#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA5	23461	genome.wustl.edu	37	17	67283782	67283782	+	Silent	SNP	A	A	G			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr17:67283782A>G	ENST00000392676.3	-	15	2077	c.2013T>C	c.(2011-2013)caT>caC	p.H671H	ABCA5_ENST00000392677.2_Silent_p.H671H|ABCA5_ENST00000588877.1_Silent_p.H671H			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	671	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CATCCATGAAATGAGTACTGA	0.393																																						dbGAP											0													160.0	157.0	158.0					17																	67283782		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2013T>C	17.37:g.67283782A>G			Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H671	ENST00000392676.3	37	c.2013	CCDS11685.1	17																																																																																			ABCA5	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154265		0.393	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	236	0.00	0	A	NM_018672		67283782	67283782	-1	no_errors	ENST00000392677	ensembl	human	known	69_37n	silent	147	10.91	18	SNP	0.975	G
ACTN3	89	genome.wustl.edu	37	11	66322680	66322680	+	RNA	SNP	G	G	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr11:66322680G>T	ENST00000502692.1	+	0	881				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						ACTGCGAAAGGTAGAGGCCCC	0.617																																						dbGAP											0													73.0	82.0	79.0					11																	66322680		2193	4292	6485	-	-	-			0			M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66322680G>T			A6NP77|Q4KKV2	Splice_Site	SNP	-	e6+1	ENST00000502692.1	37	c.765+1		11																																																																																			ACTN3	-	-	ENSG00000248746		0.617	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	ACTN3	HGNC	polymorphic_pseudogene	OTTHUMT00000362465.1	283	0.00	0	G	NM_001104		66322680	66322680	+1	pseudogene	ENST00000502692	ensembl	human	known	69_37n	splice_site	225	20.77	59	SNP	1.000	T
AKR1C2	1646	genome.wustl.edu	37	10	5043762	5043762	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr10:5043762G>A	ENST00000380753.4	-	2	383	c.196C>T	c.(196-198)Cga>Tga	p.R66*	AKR1C2_ENST00000455190.1_Nonsense_Mutation_p.R66*|AKR1C2_ENST00000421196.3_Nonsense_Mutation_p.R66*|AKR1C2_ENST00000407674.1_Nonsense_Mutation_p.R66*	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	66					cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	ATCTTGCTTCGGATGGCCAGT	0.438																																						dbGAP											0													134.0	117.0	123.0					10																	5043762		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"""Aldo-keto reductases"""	385	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"""	600450	"""aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)"", ""testicular 17,20-desmolase deficiency"""	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.196C>T	10.37:g.5043762G>A	ENSP00000370129:p.Arg66*		A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Nonsense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.R66*	ENST00000380753.4	37	c.196	CCDS7062.1	10	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754085	0.69648	.	.	ENSG00000151632	ENST00000380753;ENST00000421196;ENST00000407674;ENST00000455190	.	.	.	2.31	-3.83	0.04269	.	0.283918	0.22745	N	0.056158	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.09	0.48110	0.0:0.0:0.2186:0.7814	.	.	.	.	X	66	.	ENSP00000370129:R66X	R	-	1	2	AKR1C2	5033762	0.000000	0.05858	0.013000	0.15412	0.337000	0.28794	0.421000	0.21280	-0.837000	0.04223	0.194000	0.17425	CGA	AKR1C2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000151632		0.438	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C2	HGNC	protein_coding	OTTHUMT00000046531.1	478	0.00	0	G	NM_001354		5043762	5043762	-1	no_errors	ENST00000380753	ensembl	human	known	69_37n	nonsense	249	16.94	51	SNP	0.007	A
ALDH18A1	5832	genome.wustl.edu	37	10	97386504	97386504	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr10:97386504C>T	ENST00000371224.2	-	10	1245	c.1108G>A	c.(1108-1110)Gcg>Acg	p.A370T	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.A368T	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	370	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CCAGATCGCGCCATTTCTCCC	0.448																																						dbGAP											0													148.0	115.0	126.0					10																	97386504		2203	4300	6503	-	-	-	SO:0001583	missense	0			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1108G>A	10.37:g.97386504C>T	ENSP00000360268:p.Ala370Thr		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.A370T	ENST00000371224.2	37	c.1108	CCDS7443.1	10	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543463	0.86022	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	D;D	0.90324	-2.65;-2.65	5.96	5.96	0.96718	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Gamma-glutamyl phosphate reductase GPR (1);	0.137910	0.64402	D	0.000004	D	0.94026	0.8086	M	0.90252	3.1	0.80722	D	1	B;B	0.33103	0.397;0.345	B;B	0.40741	0.339;0.229	D	0.93763	0.7068	10	0.87932	D	0	-14.826	17.9158	0.88950	0.0:1.0:0.0:0.0	.	370;368	P54886;P54886-2	P5CS_HUMAN;.	T	370;368	ENSP00000360268:A370T;ENSP00000360265:A368T	ENSP00000360265:A368T	A	-	1	0	ALDH18A1	97376494	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.388000	0.66249	2.832000	0.97577	0.655000	0.94253	GCG	ALDH18A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	ENSG00000059573		0.448	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	515	0.00	0	C	NM_002860		97386504	97386504	-1	no_errors	ENST00000371224	ensembl	human	known	69_37n	missense	234	11.70	31	SNP	1.000	T
ANGPT1	284	genome.wustl.edu	37	8	108359218	108359218	+	IGR	SNP	G	G	C			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr8:108359218G>C								ANGPT1 (10468 upstream) : RNA5SP275 (537503 downstream)																							CAGTCTGAGAGAGGAGGCTGG	0.483																																						dbGAP											0													152.0	136.0	141.0					8																	108359218		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0																															8.37:g.108359218G>C				Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.L135		37	c.405		8																																																																																			ANGPT1	-	NULL	ENSG00000154188	0	0.483					ANGPT1	HGNC			438	0.00	0	G			108359218	108359218	-1	no_errors	ENST00000517746	ensembl	human	known	69_37n	silent	302	15.41	55	SNP	0.835	C
ANGPTL3	27329	genome.wustl.edu	37	1	63066808	63066808	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr1:63066808G>C	ENST00000371129.3	+	3	742	c.662G>C	c.(661-663)aGa>aCa	p.R221T	DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	221					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						TCCAAGCCAAGAGCACCAAGA	0.328																																						dbGAP											0													90.0	89.0	89.0					1																	63066808		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.662G>C	1.37:g.63066808G>C	ENSP00000360170:p.Arg221Thr		A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.R221T	ENST00000371129.3	37	c.662	CCDS622.1	1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717453	0.30413	.	.	ENSG00000132855	ENST00000371129	T	0.53206	0.63	5.36	5.36	0.76844	.	0.261461	0.27429	N	0.019411	T	0.18964	0.0455	L	0.32530	0.975	0.28720	N	0.903086	P	0.46064	0.872	B	0.39503	0.301	T	0.11155	-1.0599	10	0.12766	T	0.61	.	14.5811	0.68292	0.0:0.0:1.0:0.0	.	221	Q9Y5C1	ANGL3_HUMAN	T	221	ENSP00000360170:R221T	ENSP00000360170:R221T	R	+	2	0	ANGPTL3	62839396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.079000	0.41577	2.496000	0.84212	0.591000	0.81541	AGA	ANGPTL3	-	NULL	ENSG00000132855		0.328	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL3	HGNC	protein_coding	OTTHUMT00000025344.1	61	0.00	0	G	NM_014495		63066808	63066808	+1	no_errors	ENST00000371129	ensembl	human	known	69_37n	missense	95	12.84	14	SNP	1.000	C
BPHL	670	genome.wustl.edu	37	6	3119540	3119540	+	Intron	SNP	C	C	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr6:3119540C>A	ENST00000380379.5	+	1	156				BPHL_ENST00000380375.3_5'UTR|BPHL_ENST00000380368.2_5'UTR|BPHL_ENST00000434640.1_5'UTR	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)						cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AGCCTGAGTACCGCTAAGGCT	0.458																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.107+459C>A	6.37:g.3119540C>A			Q00306|Q13855|Q3KP51	Nonsense_Mutation	SNP	NULL	p.Y43*	ENST00000380379.5	37	c.129	CCDS4483.2	6																																																																																			BPHL	-	NULL	ENSG00000137274		0.458	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPHL	HGNC	protein_coding	OTTHUMT00000039670.5	45	0.00	0	C			3119540	3119540	+1	no_errors	ENST00000424847	ensembl	human	known	69_37n	nonsense	37	19.57	9	SNP	0.001	A
B3GALT4	8705	genome.wustl.edu	37	6	33245414	33245414	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr6:33245414T>G	ENST00000451237.1	+	1	498	c.218T>G	c.(217-219)cTg>cGg	p.L73R		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	73					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CCTCCCTTCCTGCTCATCCTG	0.711																																						dbGAP											0													45.0	57.0	53.0					6																	33245414		2190	4290	6480	-	-	-	SO:0001583	missense	0			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.218T>G	6.37:g.33245414T>G	ENSP00000390784:p.Leu73Arg			Missense_Mutation	SNP	pfam_Glyco_trans_31	p.L73R	ENST00000451237.1	37	c.218	CCDS34425.1	6	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352180	0.82132	.	.	ENSG00000235863	ENST00000451237	T	0.62232	0.04	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000009	T	0.57666	0.2069	N	0.24115	0.695	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.66324	-0.5952	10	0.87932	D	0	.	11.8874	0.52610	0.0:0.0:0.0:1.0	.	73	O96024	B3GT4_HUMAN	R	73	ENSP00000390784:L73R	ENSP00000390784:L73R	L	+	2	0	B3GALT4	33353392	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.196000	0.65136	1.910000	0.55303	0.448000	0.29417	CTG	B3GALT4	-	NULL	ENSG00000235863		0.711	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT4	HGNC	protein_coding	OTTHUMT00000076162.2	40	0.00	0	T			33245414	33245414	+1	no_errors	ENST00000451237	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	1.000	G
CAPN1	823	genome.wustl.edu	37	11	64973997	64973997	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr11:64973997C>T	ENST00000527323.1	+	12	1657	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	CAPN1_ENST00000533129.1_Missense_Mutation_p.R473C|CAPN1_ENST00000533820.1_Missense_Mutation_p.R473C|CAPN1_ENST00000279247.6_Missense_Mutation_p.R473C|CAPN1_ENST00000524773.1_Missense_Mutation_p.R473C			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	473	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GTCTCGGGCGCGCTCAGAGCA	0.657																																						dbGAP											0													64.0	72.0	70.0					11																	64973997		2105	4218	6323	-	-	-	SO:0001583	missense	0			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1417C>T	11.37:g.64973997C>T	ENSP00000431984:p.Arg473Cys		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R473C	ENST00000527323.1	37	c.1417	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793449	0.70452	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.26	5.26	0.73747	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.177347	0.49916	D	0.000128	D	0.94742	0.8303	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.95186	0.8304	10	0.62326	D	0.03	.	16.3544	0.83230	0.0:1.0:0.0:0.0	.	473	P07384	CAN1_HUMAN	C	473;473;473;473;419;473	ENSP00000435272:R473C;ENSP00000431686:R473C;ENSP00000434176:R473C;ENSP00000279247:R473C;ENSP00000431984:R473C	ENSP00000259755:R419C	R	+	1	0	CAPN1	64730573	1.000000	0.71417	0.125000	0.21846	0.265000	0.26407	7.696000	0.84270	2.448000	0.82819	0.462000	0.41574	CGC	CAPN1	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III	ENSG00000014216		0.657	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	89	0.00	0	C			64973997	64973997	+1	no_errors	ENST00000279247	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	1.000	T
CARNS1	57571	genome.wustl.edu	37	11	67186344	67186344	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr11:67186344C>A	ENST00000307823.3	+	4	565	c.113C>A	c.(112-114)aCa>aAa	p.T38K	CARNS1_ENST00000531040.1_Missense_Mutation_p.T161K|CARNS1_ENST00000445895.2_Missense_Mutation_p.T161K|CARNS1_ENST00000423745.2_Missense_Mutation_p.T38K	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	38					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GGGGGCCTGACATTCCTGGAT	0.677																																						dbGAP											0													27.0	30.0	29.0					11																	67186344		1936	4125	6061	-	-	-	SO:0001583	missense	0				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.113C>A	11.37:g.67186344C>A	ENSP00000308268:p.Thr38Lys		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	superfamily_PreATP-grasp_fold,superfamily_TIL_dom,pfscan_ATP-grasp	p.T161K	ENST00000307823.3	37	c.482	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143652	0.77888	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000539452;ENST00000423745;ENST00000445895	T;T;T;T	0.40476	1.1;1.03;1.03;1.22	3.98	3.98	0.46160	.	.	.	.	.	T	0.51415	0.1673	L	0.27053	0.805	0.37837	D	0.928911	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.61461	-0.7058	9	0.87932	D	0	.	14.9825	0.71321	0.0:1.0:0.0:0.0	.	161;38;177	F5H427;A5YM72;A5YM72-3	.;CRNS1_HUMAN;.	K	161;38;161;177;38;161	ENSP00000431670:T161K;ENSP00000308268:T38K;ENSP00000401519:T38K;ENSP00000389009:T161K	ENSP00000308268:T38K	T	+	2	0	CARNS1	66942920	0.989000	0.36119	1.000000	0.80357	0.926000	0.56050	2.445000	0.44899	2.055000	0.61198	0.561000	0.74099	ACA	CARNS1	-	NULL	ENSG00000172508		0.677	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	HGNC	protein_coding	OTTHUMT00000395501.1	78	0.00	0	C	NM_020811		67186344	67186344	+1	no_errors	ENST00000445895	ensembl	human	known	69_37n	missense	55	23.61	17	SNP	1.000	A
CDH4	1002	genome.wustl.edu	37	20	60419731	60419731	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr20:60419731C>A	ENST00000360469.5	+	5	672	c.584C>A	c.(583-585)tCc>tAc	p.S195Y	CDH4_ENST00000543233.1_Missense_Mutation_p.S121Y	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	195	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S195F(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CAGATCCGGTCCGACAAAGAC	0.592																																						dbGAP											1	Substitution - Missense(1)	skin(1)											92.0	81.0	85.0					20																	60419731		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.584C>A	20.37:g.60419731C>A	ENSP00000353656:p.Ser195Tyr		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.S195Y	ENST00000360469.5	37	c.584	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622917	0.66901	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53640	0.61;0.61	3.68	3.68	0.42216	Cadherin (4);Cadherin-like (1);	0.064498	0.64402	D	0.000005	T	0.72740	0.3498	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79936	-0.1593	9	.	.	.	.	15.7299	0.77792	0.0:1.0:0.0:0.0	.	195	P55283	CADH4_HUMAN	Y	195;103;121	ENSP00000353656:S195Y;ENSP00000443301:S121Y	.	S	+	2	0	CDH4	59853126	1.000000	0.71417	0.990000	0.47175	0.526000	0.34562	7.491000	0.81471	1.753000	0.51906	0.313000	0.20887	TCC	CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179242		0.592	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	140	0.00	0	C	NM_001794		60419731	60419731	+1	no_errors	ENST00000360469	ensembl	human	known	69_37n	missense	81	18.81	19	SNP	0.996	A
CHRNB2	1141	genome.wustl.edu	37	1	154542778	154542778	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr1:154542778C>G	ENST00000368476.3	+	4	564	c.300C>G	c.(298-300)gaC>gaG	p.D100E		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	100					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	AAGAGTTTGACAACATGAAGA	0.532																																						dbGAP											0													77.0	65.0	69.0					1																	154542778		2203	4300	6503	-	-	-	SO:0001583	missense	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.300C>G	1.37:g.154542778C>G	ENSP00000357461:p.Asp100Glu		Q9UEH9	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D100E	ENST00000368476.3	37	c.300	CCDS1070.1	1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786619	0.31593	.	.	ENSG00000160716	ENST00000368476	T	0.78481	-1.18	5.03	3.18	0.36537	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	N	0.21240	0.645	0.44562	D	0.997523	B	0.13594	0.008	B	0.21546	0.035	T	0.44283	-0.9338	10	0.41790	T	0.15	.	8.2348	0.31620	0.0:0.7571:0.0:0.2428	.	100	P17787	ACHB2_HUMAN	E	100	ENSP00000357461:D100E	ENSP00000357461:D100E	D	+	3	2	CHRNB2	152809402	0.998000	0.40836	0.999000	0.59377	0.973000	0.67179	0.557000	0.23454	0.720000	0.32209	0.563000	0.77884	GAC	CHRNB2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000160716		0.532	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	181	0.00	0	C	NM_000748		154542778	154542778	+1	no_errors	ENST00000368476	ensembl	human	known	69_37n	missense	126	16.99	26	SNP	1.000	G
COL1A1	1277	genome.wustl.edu	37	17	48273322	48273322	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr17:48273322C>T	ENST00000225964.5	-	16	1136	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	340	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGAGGACCAGCGGGGCCGGTG	0.592			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	0													34.0	33.0	34.0					17																	48273322		2200	4295	6495	-	-	-	SO:0001583	missense	0			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1018G>A	17.37:g.48273322C>T	ENSP00000225964:p.Ala340Thr	953	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.A340T	ENST00000225964.5	37	c.1018	CCDS11561.1	17	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186414	0.57909	.	.	ENSG00000108821	ENST00000225964	D	0.94330	-3.4	5.5	4.52	0.55395	.	0.066446	0.64402	N	0.000015	D	0.88680	0.6502	L	0.35593	1.075	0.41172	D	0.986174	B	0.10296	0.003	B	0.10450	0.005	D	0.84451	0.0588	10	0.39692	T	0.17	.	12.3598	0.55197	0.0:0.9158:0.0:0.0842	.	340	P02452	CO1A1_HUMAN	T	340	ENSP00000225964:A340T	ENSP00000225964:A340T	A	-	1	0	COL1A1	45628321	0.995000	0.38212	1.000000	0.80357	0.940000	0.58332	3.075000	0.50073	1.307000	0.44944	0.650000	0.86243	GCT	COL1A1	-	pfam_Collagen	ENSG00000108821		0.592	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	HGNC	protein_coding	OTTHUMT00000309036.2	61	0.00	0	C			48273322	48273322	-1	no_errors	ENST00000225964	ensembl	human	known	69_37n	missense	89	10.10	10	SNP	0.998	T
COL9A1	1297	genome.wustl.edu	37	6	70942386	70942386	+	Silent	SNP	G	G	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr6:70942386G>A	ENST00000357250.6	-	36	2561	c.2403C>T	c.(2401-2403)ccC>ccT	p.P801P	RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Silent_p.P558P|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Silent_p.P558P	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	801	Collagen-like 9.|Triple-helical region (COL1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CAGGAGGGCCGGGGGGACCAG	0.582																																						dbGAP											0													39.0	45.0	43.0					6																	70942386		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2403C>T	6.37:g.70942386G>A			Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.P801	ENST00000357250.6	37	c.2403	CCDS4971.1	6																																																																																			COL9A1	-	pfam_Collagen	ENSG00000112280		0.582	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	67	0.00	0	G			70942386	70942386	-1	no_errors	ENST00000357250	ensembl	human	known	69_37n	silent	54	19.40	13	SNP	0.008	A
CTSF	8722	genome.wustl.edu	37	11	66335472	66335472	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr11:66335472C>T	ENST00000310325.5	-	2	404	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	99					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTCTTGGACACGGGGAGCCGG	0.637																																						dbGAP											0													50.0	57.0	54.0					11																	66335472		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.295G>A	11.37:g.66335472C>T	ENSP00000310832:p.Val99Met		B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.V99M	ENST00000310325.5	37	c.295	CCDS8144.1	11	.	.	.	.	.	.	.	.	.	.	C	9.206	1.029653	0.19512	.	.	ENSG00000174080	ENST00000310325;ENST00000526010	T;T	0.72051	-0.62;0.82	4.45	1.26	0.21427	.	0.840438	0.10148	N	0.710044	T	0.50837	0.1639	L	0.27053	0.805	0.09310	N	1	P	0.51240	0.943	B	0.37047	0.24	T	0.38887	-0.9640	10	0.46703	T	0.11	.	6.2384	0.20776	0.2892:0.3814:0.3294:0.0	.	99	Q9UBX1	CATF_HUMAN	M	99;7	ENSP00000310832:V99M;ENSP00000435822:V7M	ENSP00000310832:V99M	V	-	1	0	CTSF	66092048	0.745000	0.28261	0.088000	0.20740	0.389000	0.30415	1.185000	0.32065	0.222000	0.20900	0.462000	0.41574	GTG	CTSF	-	NULL	ENSG00000174080		0.637	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSF	HGNC	protein_coding	OTTHUMT00000393047.1	52	0.00	0	C	NM_003793		66335472	66335472	-1	no_errors	ENST00000310325	ensembl	human	known	69_37n	missense	106	17.19	22	SNP	0.007	T
EIF3G	8666	genome.wustl.edu	37	19	10229782	10229782	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr19:10229782G>A	ENST00000253108.4	-	3	175	c.133C>T	c.(133-135)Cca>Tca	p.P45S	EIF3G_ENST00000587168.1_5'UTR	NM_003755.3	NP_003746.2			eukaryotic translation initiation factor 3, subunit G											central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGTAGCTCTGGCTCTGGGCTG	0.637																																					Colon(124;1100 1638 3822 4510 4876)	dbGAP											0													29.0	26.0	27.0					19																	10229782		2203	4299	6502	-	-	-	SO:0001583	missense	0			U96074	CCDS12227.1	19p13.2	2013-02-12	2007-07-27	2007-07-27		ENSG00000130811		"""RNA binding motif (RRM) containing"""	3274	protein-coding gene	gene with protein product		603913	"""eukaryotic translation initiation factor 3, subunit 4 delta, 44kDa"""	EIF3S4		9822659	Standard	NM_003755		Approved	eIF3-delta, eIF3-p44, eIF3g	uc002mnd.3	O75821		ENST00000253108.4:c.133C>T	19.37:g.10229782G>A	ENSP00000253108:p.Pro45Ser			Missense_Mutation	SNP	pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom	p.P45S	ENST00000253108.4	37	c.133	CCDS12227.1	19	.	.	.	.	.	.	.	.	.	.	G	7.456	0.643709	0.14451	.	.	ENSG00000130811	ENST00000253108	T	0.10960	2.82	4.95	4.95	0.65309	.	0.185033	0.37577	N	0.002037	T	0.12987	0.0315	N	0.08118	0	0.40125	D	0.976645	D;P	0.89917	1.0;0.909	D;P	0.79108	0.992;0.901	T	0.32241	-0.9914	10	0.09843	T	0.71	-4.5547	13.6731	0.62438	0.0:0.0:1.0:0.0	.	45;45	B0AZV5;O75821	.;EIF3G_HUMAN	S	45	ENSP00000253108:P45S	ENSP00000253108:P45S	P	-	1	0	EIF3G	10090782	0.999000	0.42202	0.544000	0.28141	0.093000	0.18481	2.665000	0.46791	2.304000	0.77564	0.591000	0.81541	CCA	EIF3G	-	pirsf_Transl_init_eIF-3_G	ENSG00000130811		0.637	EIF3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3G	HGNC	protein_coding	OTTHUMT00000451144.1	185	0.00	0	G			10229782	10229782	-1	no_errors	ENST00000253108	ensembl	human	known	69_37n	missense	61	23.46	19	SNP	0.792	A
EML4	27436	genome.wustl.edu	37	2	42472741	42472742	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr2:42472741_42472742insA	ENST00000318522.5	+	2	384_385	c.122_123insA	c.(121-126)ctaaagfs	p.LK41fs	EML4_ENST00000402711.2_Frame_Shift_Ins_p.LK41fs|EML4_ENST00000482660.1_3'UTR|EML4_ENST00000401738.3_Frame_Shift_Ins_p.LK41fs	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	41					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATCACTGTGCTAAAGGCGGCTT	0.416			T	ALK	NSCLC																																	dbGAP		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0																																										-	-	-	SO:0001589	frameshift_variant	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.125dupA	2.37:g.42472744_42472744dupA	ENSP00000320663:p.Leu41fs		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Frame_Shift_Ins	INS	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A43fs	ENST00000318522.5	37	c.122_123	CCDS1807.1	2																																																																																			EML4	-	NULL	ENSG00000143924		0.416	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	351	0.00	0	-	NM_019063		42472741	42472742	+1	no_errors	ENST00000318522	ensembl	human	known	69_37n	frame_shift_ins	226	19.00	53	INS	0.999:0.353	A
ERBB2	2064	genome.wustl.edu	37	17	37880261	37880261	+	Missense_Mutation	SNP	G	G	C	rs121913468		TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr17:37880261G>C	ENST00000269571.5	+	19	2464	c.2305G>C	c.(2305-2307)Gac>Cac	p.D769H	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.D754H|ERBB2_ENST00000445658.2_Missense_Mutation_p.D493H|ERBB2_ENST00000584601.1_Missense_Mutation_p.D739H|ERBB2_ENST00000406381.2_Missense_Mutation_p.D739H|ERBB2_ENST00000584450.1_Missense_Mutation_p.D769H|ERBB2_ENST00000540147.1_Missense_Mutation_p.D739H			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.D769H(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	AGAAATCTTAGACGTAAGCCC	0.532		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												dbGAP		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	2	Substitution - Missense(2)	stomach(1)|lung(1)											95.0	82.0	86.0					17																	37880261		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2305G>C	17.37:g.37880261G>C	ENSP00000269571:p.Asp769His		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D769H	ENST00000269571.5	37	c.2305	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.182232	0.94885	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.83198	0.5202	N	0.05441	-0.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87787	0.2616	9	0.87932	D	0	.	17.957	0.89072	0.0:0.0:1.0:0.0	.	493;754;769	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	H	739;754;493;769;739	ENSP00000385185:D739H;ENSP00000446466:D754H;ENSP00000404047:D493H;ENSP00000269571:D769H;ENSP00000443562:D739H	ENSP00000269571:D769H	D	+	1	0	ERBB2	35133787	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	9.869000	0.99810	2.329000	0.79093	0.462000	0.41574	GAC	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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	ENSG00000141736		0.532	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	211	0.00	0	G			37880261	37880261	+1	no_errors	ENST00000269571	ensembl	human	known	69_37n	missense	223	53.59	261	SNP	1.000	C
SPATA31D1	389763	genome.wustl.edu	37	9	84608727	84608727	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr9:84608727G>T	ENST00000344803.2	+	4	3389	c.3342G>T	c.(3340-3342)gaG>gaT	p.E1114D		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1114					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCAGCGCAGAGCTGCCCATAA	0.507																																						dbGAP											0													65.0	66.0	65.0					9																	84608727		1978	4169	6147	-	-	-	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3342G>T	9.37:g.84608727G>T	ENSP00000341988:p.Glu1114Asp			Missense_Mutation	SNP	NULL	p.E1114D	ENST00000344803.2	37	c.3342	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	7.240	0.601016	0.13939	.	.	ENSG00000214929	ENST00000344803	T	0.06218	3.33	2.59	-0.472	0.12115	.	.	.	.	.	T	0.02533	0.0077	N	0.14661	0.345	0.09310	N	1	P	0.41450	0.75	B	0.36335	0.222	T	0.35051	-0.9804	9	0.15066	T	0.55	0.1926	1.3729	0.02214	0.1375:0.2142:0.4292:0.2191	.	1114	Q6ZQQ2	F75D1_HUMAN	D	1114	ENSP00000341988:E1114D	ENSP00000341988:E1114D	E	+	3	2	FAM75D1	83798547	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.076000	0.11412	-0.098000	0.12285	0.603000	0.83216	GAG	FAM75D1	-	NULL	ENSG00000214929		0.507	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	90	0.00	0	G	NM_001001670		84608727	84608727	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	missense	52	25.71	18	SNP	0.000	T
GAD2	2572	genome.wustl.edu	37	10	26534920	26534920	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr10:26534920G>T	ENST00000376261.3	+	8	1414	c.911G>T	c.(910-912)tGt>tTt	p.C304F	GAD2_ENST00000259271.3_Missense_Mutation_p.C304F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	304					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTGATTAAATGTGATGAGAGG	0.408																																						dbGAP											0													120.0	113.0	115.0					10																	26534920		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.911G>T	10.37:g.26534920G>T	ENSP00000365437:p.Cys304Phe		Q9UD87	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.C304F	ENST00000376261.3	37	c.911	CCDS7149.1	10	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131148	0.56828	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.38401	1.14;1.14	5.13	5.13	0.70059	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.158966	0.53938	D	0.000045	T	0.57373	0.2049	M	0.88450	2.955	0.80722	D	1	P	0.43788	0.817	P	0.55923	0.787	T	0.59857	-0.7375	10	0.37606	T	0.19	-14.0299	8.9623	0.35854	0.0:0.16:0.6747:0.1653	.	304	Q05329	DCE2_HUMAN	F	304	ENSP00000365437:C304F;ENSP00000259271:C304F	ENSP00000259271:C304F	C	+	2	0	GAD2	26574926	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.541000	0.45735	2.362000	0.80069	0.650000	0.86243	TGT	GAD2	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000136750		0.408	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	HGNC	protein_coding	OTTHUMT00000047255.1	319	0.00	0	G	NM_000818		26534920	26534920	+1	no_errors	ENST00000259271	ensembl	human	known	69_37n	missense	195	23.85	62	SNP	1.000	T
GRIA4	2893	genome.wustl.edu	37	11	105481779	105481779	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr11:105481779G>A	ENST00000530497.1	+	1	55	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	GRIA4_ENST00000428631.2_Missense_Mutation_p.A19T|GRIA4_ENST00000282499.5_Missense_Mutation_p.A19T|GRIA4_ENST00000525187.1_Missense_Mutation_p.A19T|GRIA4_ENST00000527669.1_Missense_Mutation_p.A19T|GRIA4_ENST00000393125.2_Missense_Mutation_p.A19T|GRIA4_ENST00000393127.2_Missense_Mutation_p.A19T			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	19					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TTGGGGACTCGCCATGGGAGC	0.498																																						dbGAP											0													128.0	117.0	121.0					11																	105481779		2202	4299	6501	-	-	-	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.55G>A	11.37:g.105481779G>A	ENSP00000435775:p.Ala19Thr		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A19T	ENST00000530497.1	37	c.55	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312645	0.60414	.	.	ENSG00000152578	ENST00000527177;ENST00000393125;ENST00000531986;ENST00000282499;ENST00000393127;ENST00000527669;ENST00000525921;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.19250	2.16;2.77;2.61;2.16;2.77;2.61	4.91	4.91	0.64330	.	0.000000	0.56097	D	0.000035	T	0.15132	0.0365	N	0.17082	0.46	0.52501	D	0.999951	B;B;B;B;B	0.13145	0.003;0.002;0.003;0.001;0.007	B;B;B;B;B	0.10450	0.002;0.005;0.002;0.001;0.001	T	0.08472	-1.0720	10	0.20046	T	0.44	.	18.6535	0.91440	0.0:0.0:1.0:0.0	.	19;19;49;19;19	P48058;G3V164;Q59GL7;Q86XE8;E9PQN1	GRIA4_HUMAN;.;.;.;.	T	19	ENSP00000376833:A19T;ENSP00000282499:A19T;ENSP00000376835:A19T;ENSP00000415551:A19T;ENSP00000435775:A19T;ENSP00000432180:A19T	ENSP00000282499:A19T	A	+	1	0	GRIA4	104986989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.735000	0.68587	2.710000	0.92621	0.563000	0.77884	GCC	GRIA4	-	NULL	ENSG00000152578		0.498	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	248	0.00	0	G			105481779	105481779	+1	no_errors	ENST00000282499	ensembl	human	known	69_37n	missense	138	29.08	57	SNP	1.000	A
HNRNPH1	3187	genome.wustl.edu	37	5	179043881	179043881	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr5:179043881C>T	ENST00000356731.5	-	10	2731	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D	HNRNPH1_ENST00000511300.2_Intron|HNRNPH1_ENST00000510411.1_Intron|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.G399D|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.G399D|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.G399D			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	399	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CAAGCCCATGCCTCCCATCAT	0.328																																						dbGAP											0													101.0	99.0	100.0					5																	179043881		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1196G>A	5.37:g.179043881C>T	ENSP00000349168:p.Gly399Asp		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.G399D	ENST00000356731.5	37	c.1196	CCDS4446.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.23|18.23	3.577054|3.577054	0.65878|0.65878	.|.	.|.	ENSG00000169045|ENSG00000169045	ENST00000521173|ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000523921	.|T;T;T;T;T	.|0.13307	.|2.6;2.6;2.6;2.6;2.6	5.69|5.69	4.82|4.82	0.62117|0.62117	.|.	.|0.047521	.|0.85682	.|D	.|0.000000	T|T	0.15176|0.15176	0.0366|0.0366	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|P	.|0.37061	.|0.58	.|B	.|0.34722	.|0.188	T|T	0.01894|0.01894	-1.1252|-1.1252	5|10	.|0.66056	.|D	.|0.02	-7.4954|-7.4954	10.9134|10.9134	0.47122|0.47122	0.0:0.7612:0.1644:0.0744|0.0:0.7612:0.1644:0.0744	.|.	.|399	.|P31943	.|HNRH1_HUMAN	T|D	274|399;399;399;399;193	.|ENSP00000377082:G399D;ENSP00000397797:G399D;ENSP00000349168:G399D;ENSP00000327539:G399D;ENSP00000429270:G193D	.|ENSP00000327539:G399D	A|G	-|-	1|2	0|0	HNRNPH1|HNRNPH1	178976487|178976487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.196000|2.196000	0.42686|0.42686	1.413000|1.413000	0.46997|0.46997	-0.128000|-0.128000	0.14901|0.14901	GCA|GGC	HNRNPH1	-	NULL	ENSG00000169045		0.328	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HNRNPH1	HGNC	protein_coding	OTTHUMT00000253497.3	174	0.00	0	C	NM_005520		179043881	179043881	-1	no_errors	ENST00000356731	ensembl	human	known	69_37n	missense	106	24.29	34	SNP	1.000	T
HRNR	388697	genome.wustl.edu	37	1	152191856	152191856	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr1:152191856G>T	ENST00000368801.2	-	3	2324	c.2249C>A	c.(2248-2250)tCc>tAc	p.S750Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	750					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATAGCTGGAAGACAAACC	0.572																																						dbGAP											0													170.0	166.0	167.0					1																	152191856		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2249C>A	1.37:g.152191856G>T	ENSP00000357791:p.Ser750Tyr		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S750Y	ENST00000368801.2	37	c.2249	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	4.263	0.047785	0.08243	.	.	ENSG00000197915	ENST00000368801	T	0.11604	2.76	2.83	1.88	0.25563	.	.	.	.	.	T	0.09379	0.0231	L	0.39898	1.24	0.09310	N	1	D	0.76494	0.999	D	0.65987	0.94	T	0.14035	-1.0487	9	0.56958	D	0.05	.	7.709	0.28667	0.0:0.2625:0.7375:0.0	.	750	Q86YZ3	HORN_HUMAN	Y	750	ENSP00000357791:S750Y	ENSP00000357791:S750Y	S	-	2	0	HRNR	150458480	0.004000	0.15560	0.002000	0.10522	0.012000	0.07955	1.381000	0.34362	0.504000	0.28082	0.508000	0.49915	TCC	HRNR	-	NULL	ENSG00000197915		0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	602	0.00	0	G	XM_373868		152191856	152191856	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	251	18.77	58	SNP	0.004	T
RABGEF1	27342	genome.wustl.edu	37	7	66236971	66236974	+	Frame_Shift_Del	DEL	CCTG	CCTG	-			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	CCTG	CCTG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr7:66236971_66236974delCCTG	ENST00000284957.5	+	2	162_165	c.85_88delCCTG	c.(85-90)cctgccfs	p.PA29fs	KCTD7_ENST00000510829.2_Frame_Shift_Del_p.PA29fs|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000380828.2_Frame_Shift_Del_p.PA29fs|RABGEF1_ENST00000450873.2_Frame_Shift_Del_p.PA29fs|KCTD7_ENST00000451741.2_Frame_Shift_Del_p.PA29fs|RABGEF1_ENST00000437078.2_Frame_Shift_Del_p.PA43fs|RABGEF1_ENST00000439720.2_Frame_Shift_Del_p.PA42fs			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	167					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CTACGGCAACCCTGCCTGGCAGGG	0.534																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.85_88delCCTG	7.37:g.66236975_66236978delCCTG	ENSP00000284957:p.Pro29fs		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Frame_Shift_Del	DEL	pfam_VPS9,pfam_Znf_A20,smart_Znf_A20,smart_VPS9_subgr,pfscan_VPS9,pfscan_Znf_A20	p.A30fs	ENST00000284957.5	37	c.85_88	CCDS5535.1	7																																																																																			KCTD7	-	pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20	ENSG00000243335		0.534	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD7	HGNC	protein_coding	OTTHUMT00000251737.3	230	0.00	0	CCTG	NM_014504		66236971	66236974	+1	no_errors	ENST00000380828	ensembl	human	known	69_37n	frame_shift_del	73	30.48	32	DEL	0.996:0.997:0.757:1.000	-
KRT5	3852	genome.wustl.edu	37	12	52913583	52913583	+	Silent	SNP	G	G	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr12:52913583G>T	ENST00000252242.4	-	1	888	c.498C>A	c.(496-498)acC>acA	p.T166T		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	166	Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCGCTCCTCGGTCCTCACCC	0.517																																						dbGAP											0													179.0	171.0	174.0					12																	52913583		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.498C>A	12.37:g.52913583G>T			Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.T166	ENST00000252242.4	37	c.498	CCDS8830.1	12																																																																																			KRT5	-	NULL	ENSG00000186081		0.517	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1	668	0.00	0	G			52913583	52913583	-1	no_errors	ENST00000252242	ensembl	human	known	69_37n	silent	367	10.46	43	SNP	0.003	T
KRTAP9-1	728318	genome.wustl.edu	37	17	39346593	39346595	+	In_Frame_Del	DEL	CCT	CCT	-	rs377187211|rs148036927|rs11283848	byFrequency	TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr17:39346593_39346595delCCT	ENST00000398470.1	+	1	455_457	c.455_457delCCT	c.(454-459)acctgc>agc	p.152_153TC>S	KRTAP9-1_ENST00000318329.5_In_Frame_Del_p.69_70TC>S|KRTAP9-1_ENST00000377723.3_Intron	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	152	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)		p.T152_C153>S(2)		breast(1)|lung(3)	4						TGCCAGCCCACCTGCTGTGGGTC	0.581																																						dbGAP											2	Complex - deletion inframe(2)	breast(2)																																								-	-	-	SO:0001651	inframe_deletion	0			AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.455_457delCCT	17.37:g.39346593_39346595delCCT	ENSP00000381488:p.Thr152_Cys153delinsSer			In_Frame_Del	DEL	NULL	p.TC152in_frame_delS	ENST00000398470.1	37	c.455_457	CCDS56029.1	17																																																																																			KRTAP9-1	-	NULL	ENSG00000240542		0.581	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRTAP9-1	HGNC	protein_coding	OTTHUMT00000257781.1	176	0.43	1	CCT			39346593	39346595	+1	no_errors	ENST00000398470	ensembl	human	known	69_37n	in_frame_del	28	17.65	6	DEL	0.001:0.010:0.140	-
MLC1	23209	genome.wustl.edu	37	22	50502593	50502595	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	AGC	AGC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr22:50502593_50502595delAGC	ENST00000311597.5	-	11	1533_1535	c.927_929delGCT	c.(925-930)ctgcta>cta	p.309_310LL>L	MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000431262.2_In_Frame_Del_p.279_280LL>L|MLC1_ENST00000538737.1_In_Frame_Del_p.275_276LL>L|MLC1_ENST00000395876.2_In_Frame_Del_p.309_310LL>L|MLC1_ENST00000450140.2_In_Frame_Del_p.257_258LL>L|MLC1_ENST00000535444.1_In_Frame_Del_p.230_231LL>L	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	309			L -> M (in a pedigree affected by schizophrenia; dbSNP:rs80358240). {ECO:0000269|PubMed:11326298}.		caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		caggagcactagcagcagcagca	0.655																																						dbGAP											0			GRCh37	CD030152	MLC1	D																																				-	-	-	SO:0001651	inframe_deletion	0			D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.927_929delGCT	22.37:g.50502602_50502604delAGC	ENSP00000310375:p.Leu310del		B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	In_Frame_Del	DEL	NULL	p.L310in_frame_del	ENST00000311597.5	37	c.929_927	CCDS14083.1	22																																																																																			MLC1	-	NULL	ENSG00000100427		0.655	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLC1	HGNC	protein_coding	OTTHUMT00000316979.2	63	0.00	0	AGC	NM_015166		50502593	50502595	-1	no_errors	ENST00000311597	ensembl	human	known	69_37n	in_frame_del	29	12.12	4	DEL	1.000:1.000:1.000	-
MTMR8	55613	genome.wustl.edu	37	X	63488918	63488918	+	Silent	SNP	T	T	C			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chrX:63488918T>C	ENST00000374852.3	-	14	1681	c.1614A>G	c.(1612-1614)ctA>ctG	p.L538L	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	538						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CACGGACTTTTAGTTTCTGCC	0.438																																						dbGAP											2	Whole gene deletion(2)	ovary(1)|large_intestine(1)											43.0	42.0	42.0					X																	63488918		2195	4285	6480	-	-	-	SO:0001819	synonymous_variant	0			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1614A>G	X.37:g.63488918T>C			Q5JT99|Q9NXP6	Missense_Mutation	SNP	smart_Tyr_Pase_cat	p.K342E	ENST00000374852.3	37	c.1024	CCDS14379.1	X	.	.	.	.	.	.	.	.	.	.	T	2.114	-0.403035	0.04865	.	.	ENSG00000102043	ENST00000442913	.	.	.	2.48	-1.68	0.08212	.	.	.	.	.	T	0.28962	0.0719	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29852	-0.9998	4	.	.	.	.	6.7479	0.23472	0.0:0.2983:0.0:0.7017	.	.	.	.	E	342	.	.	K	-	1	0	MTMR8	63405643	0.006000	0.16342	0.020000	0.16555	0.701000	0.40568	-0.635000	0.05471	-0.655000	0.05387	-0.395000	0.06472	AAA	MTMR8	-	NULL	ENSG00000102043		0.438	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	HGNC	protein_coding	OTTHUMT00000056949.2	51	0.00	0	T	NM_017677		63488918	63488918	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000442913	ensembl	human	known	69_37n	missense	41	21.15	11	SNP	0.020	C
MYT1L	23040	genome.wustl.edu	37	2	1906950	1906950	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr2:1906950G>A	ENST00000399161.2	-	14	2681	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	MYT1L_ENST00000428368.2_Missense_Mutation_p.S643L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	645					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTATTCAAACGAGGTCTTGGA	0.483																																						dbGAP											0													150.0	136.0	140.0					2																	1906950		1927	4137	6064	-	-	-	SO:0001583	missense	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1934C>T	2.37:g.1906950G>A	ENSP00000382114:p.Ser645Leu		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.S645L	ENST00000399161.2	37	c.1934		2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427671	0.83667	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.48522	0.81;0.81	5.51	5.51	0.81932	Myelin transcription factor 1 (1);	0.212629	0.46442	D	0.000300	T	0.51975	0.1706	M	0.66939	2.045	0.40320	D	0.97881	P;P	0.48589	0.886;0.912	B;B	0.41412	0.356;0.308	T	0.61594	-0.7031	10	0.72032	D	0.01	-15.0931	19.4196	0.94715	0.0:0.0:1.0:0.0	.	645;643	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	L	645;591;643	ENSP00000382114:S645L;ENSP00000396103:S643L	ENSP00000295067:S591L	S	-	2	0	MYT1L	1885957	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	5.148000	0.64857	2.599000	0.87857	0.561000	0.74099	TCG	MYT1L	-	pfam_Myelin_TF	ENSG00000186487		0.483	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	444	0.00	0	G	NM_015025		1906950	1906950	-1	no_errors	ENST00000399161	ensembl	human	known	69_37n	missense	230	21.50	63	SNP	1.000	A
NCKAP1	10787	genome.wustl.edu	37	2	183800041	183800041	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr2:183800041C>T	ENST00000361354.4	-	25	3130	c.2758G>A	c.(2758-2760)Gca>Aca	p.A920T	NCKAP1_ENST00000478449.1_5'UTR|NCKAP1_ENST00000360982.2_Missense_Mutation_p.A926T	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	920					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCTTCTTGTGCCAATGATCGG	0.323																																						dbGAP											0													131.0	128.0	129.0					2																	183800041		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2758G>A	2.37:g.183800041C>T	ENSP00000355348:p.Ala920Thr		O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	pfam_Nck-associated_protein-1	p.A926T	ENST00000361354.4	37	c.2776	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447463	0.84101	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.33438	1.41;1.41	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.36054	0.0953	M	0.66506	2.035	0.80722	D	1	P;P	0.36483	0.555;0.499	B;B	0.34242	0.178;0.112	T	0.21143	-1.0254	10	0.42905	T	0.14	-13.8222	19.2877	0.94085	0.0:1.0:0.0:0.0	.	920;926	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	T	920;926	ENSP00000355348:A920T;ENSP00000354251:A926T	ENSP00000354251:A926T	A	-	1	0	NCKAP1	183508286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.638000	0.89438	0.585000	0.79938	GCA	NCKAP1	-	pfam_Nck-associated_protein-1	ENSG00000061676		0.323	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	206	0.00	0	C	NM_205842		183800041	183800041	-1	no_errors	ENST00000360982	ensembl	human	known	69_37n	missense	225	18.18	50	SNP	1.000	T
OR2T11	127077	genome.wustl.edu	37	1	248789815	248789815	+	Silent	SNP	G	G	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr1:248789815G>T	ENST00000330803.2	-	1	676	c.615C>A	c.(613-615)ctC>ctA	p.L205L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGGGGATGAGCAACATGA	0.483																																						dbGAP											0													73.0	75.0	74.0					1																	248789815		2050	4234	6284	-	-	-	SO:0001819	synonymous_variant	0			BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.615C>A	1.37:g.248789815G>T			Q6IEY6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L205	ENST00000330803.2	37	c.615	CCDS31122.1	1																																																																																			OR2T11	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000183130		0.483	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T11	HGNC	protein_coding	OTTHUMT00000097134.1	106	0.00	0	G	NM_001001964		248789815	248789815	-1	no_errors	ENST00000330803	ensembl	human	known	69_37n	silent	38	26.92	14	SNP	0.001	T
OR6B3	150681	genome.wustl.edu	37	2	240985219	240985219	+	Missense_Mutation	SNP	G	G	A	rs535624583		TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr2:240985219G>A	ENST00000319423.4	-	1	270	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R91C(2)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AAAGAGATGCGTTTCTGCTGG	0.557													g|||	1	0.000199681	0.0008	0.0	5008	,	,		22478	0.0		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - Missense(2)	ovary(1)|large_intestine(1)											37.0	39.0	38.0					2																	240985219		1923	4115	6038	-	-	-	SO:0001583	missense	0				CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.271C>T	2.37:g.240985219G>A	ENSP00000322435:p.Arg91Cys		Q6IFH3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R91C	ENST00000319423.4	37	c.271	CCDS42837.1	2	.	.	.	.	.	.	.	.	.	.	G	3.917	-0.018940	0.07681	.	.	ENSG00000178586	ENST00000319423	T	0.01359	4.98	3.96	-2.58	0.06228	GPCR, rhodopsin-like superfamily (1);	1.116300	0.07024	N	0.827325	T	0.01558	0.0050	L	0.45352	1.415	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.46555	-0.9183	10	0.52906	T	0.07	.	4.3807	0.11293	0.2511:0.0:0.2314:0.5174	.	91	Q8NGW1	OR6B3_HUMAN	C	91	ENSP00000322435:R91C	ENSP00000322435:R91C	R	-	1	0	OR6B3	240633892	0.000000	0.05858	0.000000	0.03702	0.624000	0.37722	-0.700000	0.05081	-0.593000	0.05844	-0.319000	0.08680	CGC	OR6B3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000178586		0.557	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B3	HGNC	protein_coding	OTTHUMT00000326078.1	380	0.00	0	G			240985219	240985219	-1	no_errors	ENST00000319423	ensembl	human	known	69_37n	missense	151	12.72	22	SNP	0.000	A
PIK3R1	5295	genome.wustl.edu	37	5	67589556	67589556	+	Missense_Mutation	SNP	A	A	G	rs3730091		TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr5:67589556A>G	ENST00000521381.1	+	11	1935	c.1319A>G	c.(1318-1320)gAt>gGt	p.D440G	PIK3R1_ENST00000521657.1_Missense_Mutation_p.D440G|PIK3R1_ENST00000274335.5_Missense_Mutation_p.D440G|PIK3R1_ENST00000320694.8_Missense_Mutation_p.D140G|PIK3R1_ENST00000336483.5_Missense_Mutation_p.D170G|PIK3R1_ENST00000396611.1_Missense_Mutation_p.D440G|PIK3R1_ENST00000523872.1_Missense_Mutation_p.D77G	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	440					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)|p.E439del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GTCAAAGAAGATAATATTGAA	0.274			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												dbGAP		Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	3	Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	large_intestine(1)|lung(1)|central_nervous_system(1)											39.0	44.0	42.0					5																	67589556		2182	4268	6450	-	-	-	SO:0001583	missense	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1319A>G	5.37:g.67589556A>G	ENSP00000428056:p.Asp440Gly		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.D440G	ENST00000521381.1	37	c.1319	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	A	15.65	2.895094	0.52121	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;D;T;D	0.82167	-0.5;-0.5;-0.37;-0.5;-1.51;0.86;-1.53;0.41;-1.58	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	L	0.53671	1.685	0.80722	D	1	B;B;B;B	0.19331	0.003;0.001;0.001;0.035	B;B;B;B	0.22753	0.004;0.004;0.004;0.041	T	0.76405	-0.2971	10	0.37606	T	0.19	-28.0516	15.3459	0.74337	1.0:0.0:0.0:0.0	.	110;170;140;440	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	G	440;440;440;440;140;77;170;113;77	ENSP00000428056:D440G;ENSP00000429277:D440G;ENSP00000379855:D440G;ENSP00000274335:D440G;ENSP00000323512:D140G;ENSP00000431058:D77G;ENSP00000338554:D170G;ENSP00000429156:D113G;ENSP00000430098:D77G	ENSP00000274335:D440G	D	+	2	0	PIK3R1	67625312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.709000	0.91379	2.277000	0.76020	0.528000	0.53228	GAT	PIK3R1	-	superfamily_Guanylate-bd_C,prints_PI3kinase_P85	ENSG00000145675		0.274	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	24	0.00	0	A	NM_181504		67589556	67589556	+1	no_errors	ENST00000396611	ensembl	human	known	69_37n	missense	58	21.62	16	SNP	1.000	G
PLCH2	9651	genome.wustl.edu	37	1	2430266	2430266	+	Splice_Site	SNP	C	C	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr1:2430266C>T	ENST00000419816.2	+	18	2707	c.2433C>T	c.(2431-2433)aaC>aaT	p.N811N	PLCH2_ENST00000378486.3_Splice_Site_p.N811N|PLCH2_ENST00000288766.5_Splice_Site_p.N99N|PLCH2_ENST00000449969.1_Splice_Site_p.N784N|PLCH2_ENST00000378488.3_Splice_Site_p.N775N			O75038	PLCH2_HUMAN	phospholipase C, eta 2	811	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGGACGACAACGGTGAGGCTG	0.657																																						dbGAP											0													29.0	33.0	32.0					1																	2430266		2111	4229	6340	-	-	-	SO:0001630	splice_region_variant	0			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.2434+1C>T	1.37:g.2430266C>T			A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PLipase_C_Pinositol-sp_Y,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_Pinositol-sp_Y	p.T106M	ENST00000419816.2	37	c.317		1	.	.	.	.	.	.	.	.	.	.	C	3.457	-0.110815	0.06924	.	.	ENSG00000149527	ENST00000419816	.	.	.	4.93	-7.14	0.01527	.	.	.	.	.	T	0.62405	0.2425	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66724	-0.5851	4	.	.	.	.	15.4406	0.75178	0.0:0.1644:0.0:0.8356	.	.	.	.	M	106	.	.	T	+	2	0	PLCH2	2420126	0.000000	0.05858	0.882000	0.34594	0.720000	0.41350	-4.817000	0.00182	-1.292000	0.02366	-0.459000	0.05422	ACG	PLCH2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000149527		0.657	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PLCH2	HGNC	protein_coding	OTTHUMT00000467514.1	67	0.00	0	C	NM_014638	Silent	2430266	2430266	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000419816	ensembl	human	known	69_37n	missense	25	30.56	11	SNP	0.914	T
PROP1	5626	genome.wustl.edu	37	5	177421244	177421244	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr5:177421244G>A	ENST00000308304.2	-	2	513	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	69					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCGGCGCCGGGAGTGCGGG	0.657																																						dbGAP											0													35.0	38.0	37.0					5																	177421244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.205C>T	5.37:g.177421244G>A	ENSP00000311290:p.Arg69Trp			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif	p.R69W	ENST00000308304.2	37	c.205	CCDS4430.1	5	.	.	.	.	.	.	.	.	.	.	.	14.61	2.587616	0.46110	.	.	ENSG00000175325	ENST00000308304	D	0.95788	-3.81	3.33	2.43	0.29744	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.37483	N	0.002063	D	0.95303	0.8476	L	0.36672	1.1	0.51012	D	0.999902	D	0.89917	1.0	D	0.77557	0.99	D	0.94206	0.7454	10	0.72032	D	0.01	-15.7293	9.647	0.39875	0.0:0.0:0.7891:0.2109	.	69	O75360	PROP1_HUMAN	W	69	ENSP00000311290:R69W	ENSP00000311290:R69W	R	-	1	2	PROP1	177353850	1.000000	0.71417	0.991000	0.47740	0.272000	0.26649	3.724000	0.54962	0.730000	0.32425	0.485000	0.47835	CGG	PROP1	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000175325		0.657	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROP1	HGNC	protein_coding	OTTHUMT00000253472.1	67	0.00	0	G	NM_006261		177421244	177421244	-1	no_errors	ENST00000308304	ensembl	human	known	69_37n	missense	30	13.89	5	SNP	1.000	A
PSMC2	5701	genome.wustl.edu	37	7	103004751	103004751	+	Silent	SNP	T	T	C			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr7:103004751T>C	ENST00000435765.1	+	9	1164	c.753T>C	c.(751-753)ggT>ggC	p.G251G	PSMC2_ENST00000544811.1_Silent_p.G114G|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.G251G	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	251					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AATACGTCGGTGAGGTAAAGT	0.418																																						dbGAP											0													84.0	84.0	84.0					7																	103004751		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.753T>C	7.37:g.103004751T>C			A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.G251	ENST00000435765.1	37	c.753	CCDS5731.1	7																																																																																			PSMC2	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	ENSG00000161057		0.418	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC2	HGNC	protein_coding	OTTHUMT00000347922.1	179	0.00	0	T	NM_002803		103004751	103004751	+1	no_errors	ENST00000292644	ensembl	human	known	69_37n	silent	68	32.00	32	SNP	0.991	C
SCLT1	132320	genome.wustl.edu	37	4	129880840	129880840	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr4:129880840T>A	ENST00000281142.5	-	12	1465	c.962A>T	c.(961-963)gAa>gTa	p.E321V	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	321					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						ATTTTCTAATTCATTGCACTT	0.363																																						dbGAP											0													171.0	160.0	164.0					4																	129880840		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.962A>T	4.37:g.129880840T>A	ENSP00000281142:p.Glu321Val		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.E321V	ENST00000281142.5	37	c.962	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	T	13.09	2.133702	0.37630	.	.	ENSG00000151466	ENST00000281142	T	0.09255	3.0	5.05	3.89	0.44902	.	0.758295	0.12850	N	0.433987	T	0.18676	0.0448	L	0.54323	1.7	0.09310	N	1	D	0.57571	0.98	P	0.53649	0.731	T	0.06570	-1.0819	9	.	.	.	-3.0302	8.4829	0.33054	0.0:0.1489:0.0:0.8511	.	321	Q96NL6	SCLT1_HUMAN	V	321	ENSP00000281142:E321V	.	E	-	2	0	SCLT1	130100290	0.030000	0.19436	0.886000	0.34754	0.318000	0.28184	0.167000	0.16602	1.895000	0.54865	0.383000	0.25322	GAA	SCLT1	-	NULL	ENSG00000151466		0.363	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	335	0.00	0	T	NM_144643		129880840	129880840	-1	no_errors	ENST00000281142	ensembl	human	known	69_37n	missense	262	21.73	73	SNP	0.006	A
KIAA0100	9703	genome.wustl.edu	37	17	26938661	26938661	+	IGR	SNP	C	C	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr17:26938661C>T	ENST00000528896.2	-	0	7407				SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.6_ENST00000579019.2_RNA|RP11-192H23.4_ENST00000577790.1_Intron|SGK494_ENST00000301037.5_Silent_p.L245L|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_3'UTR|SGK494_ENST00000469832.3_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAAAGTCTGTCAGTTTCAGAT	0.507																																						dbGAP											0													149.0	129.0	136.0					17																	26938661		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26938661C>T			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L245	ENST00000528896.2	37	c.735	CCDS32595.1	17																																																																																			SGK494	-	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	ENSG00000167524		0.507	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK494	Clone_based_vega_gene	protein_coding	OTTHUMT00000390571.3	260	0.00	0	C	NM_014680		26938661	26938661	-1	no_errors	ENST00000301037	ensembl	human	known	69_37n	silent	117	27.61	45	SNP	1.000	T
SGPP2	130367	genome.wustl.edu	37	2	223423433	223423433	+	Missense_Mutation	SNP	G	G	A	rs201625866		TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr2:223423433G>A	ENST00000321276.7	+	5	1102	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	339					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CTCTTGGTTCGTCAGCTTGTA	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		20381	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													125.0	115.0	118.0					2																	223423433		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.1016G>A	2.37:g.223423433G>A	ENSP00000315137:p.Arg339His		A3KPB4|Q8N8Q6	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.R339H	ENST00000321276.7	37	c.1016	CCDS2453.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	27.1	4.796664	0.90453	.	.	ENSG00000163082	ENST00000321276	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.83036	0.5167	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84981	0.0888	9	0.87932	D	0	-14.0727	19.2014	0.93713	0.0:0.0:1.0:0.0	.	339	Q8IWX5	SGPP2_HUMAN	H	339	.	ENSP00000315137:R339H	R	+	2	0	SGPP2	223131677	1.000000	0.71417	0.844000	0.33320	0.931000	0.56810	8.191000	0.89716	2.533000	0.85409	0.655000	0.94253	CGT	SGPP2	-	NULL	ENSG00000163082		0.468	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPP2	HGNC	protein_coding	OTTHUMT00000256856.2	354	0.00	0	G			223423433	223423433	+1	no_errors	ENST00000321276	ensembl	human	known	69_37n	missense	171	15.61	32	SNP	0.997	A
SH2B1	25970	genome.wustl.edu	37	16	28880551	28880551	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr16:28880551C>T	ENST00000322610.8	+	7	1595	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.R386C|SH2B1_ENST00000538342.1_Missense_Mutation_p.R50C|SH2B1_ENST00000545570.1_Missense_Mutation_p.R76C|SH2B1_ENST00000395532.4_Missense_Mutation_p.R386C|SH2B1_ENST00000359285.5_Missense_Mutation_p.R386C			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	386	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TACCAGTCCCCGCCCCATGAC	0.612																																						dbGAP											0													65.0	65.0	65.0					16																	28880551		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1156C>T	16.37:g.28880551C>T	ENSP00000321221:p.Arg386Cys		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_SH2	p.R386C	ENST00000322610.8	37	c.1156	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984391	0.53934	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	T;T;T;T;T;T	0.46819	0.86;1.56;0.86;1.48;0.86;0.86	5.36	3.29	0.37713	.	0.913562	0.09247	N	0.828375	T	0.34279	0.0892	N	0.08118	0	0.43199	D	0.995047	D;P;D;D;D	0.60575	0.988;0.894;0.968;0.986;0.975	B;B;B;P;B	0.50708	0.353;0.231;0.319;0.648;0.165	T	0.23476	-1.0187	10	0.56958	D	0.05	-30.9061	5.4335	0.16466	0.1735:0.6601:0.0:0.1665	.	50;76;386;386;386	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	C	386;76;386;50;386;386	ENSP00000321221:R386C;ENSP00000440354:R76C;ENSP00000352232:R386C;ENSP00000438784:R50C;ENSP00000378903:R386C;ENSP00000337163:R386C	ENSP00000321221:R386C	R	+	1	0	SH2B1	28788052	0.135000	0.22499	1.000000	0.80357	0.984000	0.73092	0.430000	0.21428	2.504000	0.84457	0.467000	0.42956	CGC	SH2B1	-	NULL	ENSG00000178188		0.612	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	212	0.00	0	C	NM_015503		28880551	28880551	+1	no_errors	ENST00000322610	ensembl	human	known	69_37n	missense	125	13.19	19	SNP	0.995	T
SLC25A19	60386	genome.wustl.edu	37	17	73274371	73274371	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr17:73274371C>T	ENST00000402418.3	-	4	1414	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	SLC25A19_ENST00000442286.2_Missense_Mutation_p.E169K|SLC25A19_ENST00000375261.4_Missense_Mutation_p.E112K|SLC25A19_ENST00000416858.2_Missense_Mutation_p.E169K|SLC25A19_ENST00000320362.3_Missense_Mutation_p.E169K|SLC25A19_ENST00000580994.1_Missense_Mutation_p.E169K			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	169					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			TGGGGGCCTTCGCTCCTATAC	0.552																																						dbGAP											0													109.0	103.0	105.0					17																	73274371		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.505G>A	17.37:g.73274371C>T	ENSP00000385312:p.Glu169Lys		E9PF74|Q6V9R7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E169K	ENST00000402418.3	37	c.505	CCDS11720.1	17	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273617	0.40194	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.63	5.63	0.86233	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	M	0.93016	3.37	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.68039	0.955;0.944	D	0.94160	0.7413	10	0.66056	D	0.02	-28.2527	19.3082	0.94173	0.0:1.0:0.0:0.0	.	112;169	E9PF74;Q9HC21	.;TPC_HUMAN	K	169;169;169;169;112	ENSP00000397818:E169K;ENSP00000402202:E169K;ENSP00000319574:E169K;ENSP00000385312:E169K;ENSP00000364410:E112K	ENSP00000319574:E169K	E	-	1	0	SLC25A19	70785966	1.000000	0.71417	0.974000	0.42286	0.013000	0.08279	5.681000	0.68175	2.649000	0.89929	0.650000	0.86243	GAA	SLC25A19	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000125454		0.552	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC25A19	HGNC	protein_coding	OTTHUMT00000447282.1	121	0.00	0	C	NM_021734		73274371	73274371	-1	no_errors	ENST00000320362	ensembl	human	known	69_37n	missense	107	10.83	13	SNP	1.000	T
SLC4A2	6522	genome.wustl.edu	37	7	150761705	150761705	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr7:150761705C>T	ENST00000485713.1	+	4	1350	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	SLC4A2_ENST00000413384.2_Missense_Mutation_p.R104W|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R95W|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R22W|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R90W	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	104	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCCCAGGACGGAAGCCTCG	0.687																																						dbGAP											0													42.0	51.0	48.0					7																	150761705		2201	4295	6496	-	-	-	SO:0001583	missense	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.310C>T	7.37:g.150761705C>T	ENSP00000419412:p.Arg104Trp		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.R104W	ENST00000485713.1	37	c.310	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549774	0.86127	.	.	ENSG00000164889	ENST00000483786;ENST00000485713;ENST00000413384;ENST00000490898;ENST00000482950;ENST00000463414;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T;T;T;T;T	0.78924	0.45;-1.22;-1.22;1.07;0.49;0.46;-1.01;-1.21;-1.2	5.29	3.4	0.38934	.	0.071133	0.53938	D	0.000043	T	0.82213	0.4988	M	0.70275	2.135	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.53861	0.736;0.736;0.68	D	0.84511	0.0622	10	0.87932	D	0	.	12.4975	0.55937	0.301:0.699:0.0:0.0	.	95;90;104	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	W	104;104;104;104;104;104;22;95;90	ENSP00000417808:R104W;ENSP00000419412:R104W;ENSP00000405600:R104W;ENSP00000418114:R104W;ENSP00000419379:R104W;ENSP00000418584:R104W;ENSP00000311402:R22W;ENSP00000376571:R95W;ENSP00000419164:R90W	ENSP00000311402:R22W	R	+	1	2	SLC4A2	150392638	0.951000	0.32395	1.000000	0.80357	0.994000	0.84299	1.747000	0.38298	1.213000	0.43380	0.557000	0.71058	CGG	SLC4A2	-	NULL	ENSG00000164889		0.687	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	219	0.00	0	C	NM_003040		150761705	150761705	+1	no_errors	ENST00000413384	ensembl	human	known	69_37n	missense	77	14.29	13	SNP	1.000	T
SPIRE1	56907	genome.wustl.edu	37	18	12479722	12479722	+	Silent	SNP	G	G	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr18:12479722G>A	ENST00000409402.4	-	10	1647	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Silent_p.A446A|SPIRE1_ENST00000309836.5_Silent_p.A249A|SPIRE1_ENST00000383356.2_Silent_p.A287A|SPIRE1_ENST00000453447.2_Silent_p.A326A	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TGTCCAGTTCGGCCAGAGTTG	0.512																																						dbGAP											0													91.0	77.0	81.0					18																	12479722		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1380C>T	18.37:g.12479722G>A				Silent	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.A460	ENST00000409402.4	37	c.1380	CCDS45829.1	18																																																																																			SPIRE1	-	NULL	ENSG00000134278		0.512	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIRE1	HGNC	protein_coding	OTTHUMT00000333109.2	220	0.00	0	G	XM_290818		12479722	12479722	-1	no_errors	ENST00000409402	ensembl	human	known	69_37n	silent	120	11.03	15	SNP	0.881	A
TEK	7010	genome.wustl.edu	37	9	27209143	27209143	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr9:27209143G>A	ENST00000380036.4	+	16	3042	c.2600G>A	c.(2599-2601)aGg>aAg	p.R867K	TEK_ENST00000519097.1_Missense_Mutation_p.R719K|TEK_ENST00000406359.4_Missense_Mutation_p.R824K	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	867	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GATGATCACAGGGACTTTGCA	0.438																																						dbGAP											0													124.0	102.0	109.0					9																	27209143		2203	4300	6503	-	-	-	SO:0001583	missense	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2600G>A	9.37:g.27209143G>A	ENSP00000369375:p.Arg867Lys		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R867K	ENST00000380036.4	37	c.2600	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.875491	0.97055	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	D;D;D	0.81908	-1.55;-1.55;-1.55	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000041	T	0.81484	0.4832	N	0.02960	-0.455	0.80722	D	1	P;P;P;D	0.55605	0.927;0.764;0.932;0.972	D;P;D;D	0.66979	0.919;0.551;0.925;0.948	D	0.85954	0.1466	10	0.52906	T	0.07	.	20.437	0.99096	0.0:0.0:1.0:0.0	.	719;900;824;867	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	K	719;867;824	ENSP00000430686:R719K;ENSP00000369375:R867K;ENSP00000383977:R824K	ENSP00000369375:R867K	R	+	2	0	TEK	27199143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.831000	0.97527	0.643000	0.83706	AGG	TEK	-	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	ENSG00000120156		0.438	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	208	0.00	0	G			27209143	27209143	+1	no_errors	ENST00000380036	ensembl	human	known	69_37n	missense	134	18.79	31	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577558	7577558	+	Frame_Shift_Del	DEL	G	G	-	rs397516437		TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr17:7577558delG	ENST00000269305.4	-	7	912	c.723delC	c.(721-723)tccfs	p.S241fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.S241fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242fs*5(9)|p.0?(8)|p.?(5)|p.S241del(5)|p.S241F(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGCCCATGCAGGAACTGTTAC	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	50	Deletion - In frame(13)|Deletion - Frameshift(13)|Whole gene deletion(8)|Unknown(5)|Substitution - Missense(5)|Substitution - coding silent(3)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	large_intestine(8)|biliary_tract(6)|breast(5)|upper_aerodigestive_tract(4)|stomach(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|central_nervous_system(2)|urinary_tract(2)|oesophagus(2)|skin(2)|eye(2)|pancreas(2)|liver(1)											138.0	107.0	117.0					17																	7577558		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.723delC	17.37:g.7577558delG	ENSP00000269305:p.Ser241fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C242fs	ENST00000269305.4	37	c.723	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	274	0.00	0	G	NM_000546		7577558	7577558	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	66	25.84	23	DEL	1.000	-
VPS54	51542	genome.wustl.edu	37	2	64147047	64147047	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr2:64147047T>C	ENST00000272322.4	-	15	2288	c.2134A>G	c.(2134-2136)Aag>Gag	p.K712E	VPS54_ENST00000409558.4_Missense_Mutation_p.K700E|VPS54_ENST00000354504.3_Missense_Mutation_p.K559E			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	712					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AAAGCAATCTTCCCATCTGAC	0.358																																						dbGAP											0													70.0	68.0	69.0					2																	64147047		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.2134A>G	2.37:g.64147047T>C	ENSP00000272322:p.Lys712Glu		Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	pfam_Vps54,pfam_Vacuolar_sorting-assoc_54	p.K712E	ENST00000272322.4	37	c.2134	CCDS33208.1	2	.	.	.	.	.	.	.	.	.	.	T	15.52	2.858554	0.51376	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.33438	1.41;1.42;1.42	5.15	5.15	0.70609	.	0.242027	0.47093	D	0.000249	T	0.23330	0.0564	L	0.38531	1.155	0.33857	D	0.633276	B;B;B	0.28055	0.199;0.006;0.004	B;B;B	0.26969	0.075;0.009;0.02	T	0.20371	-1.0277	10	0.08599	T	0.76	.	14.9829	0.71324	0.0:0.0:0.0:1.0	.	559;712;700	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	E	559;712;700;700;712	ENSP00000346499:K559E;ENSP00000272322:K712E;ENSP00000386980:K700E	ENSP00000272322:K712E	K	-	1	0	VPS54	64000551	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.847000	0.55895	1.928000	0.55862	0.528000	0.53228	AAG	VPS54	-	NULL	ENSG00000143952		0.358	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS54	HGNC	protein_coding	OTTHUMT00000327062.2	123	0.00	0	T	NM_016516		64147047	64147047	-1	no_errors	ENST00000272322	ensembl	human	known	69_37n	missense	118	17.36	25	SNP	1.000	C
ZFPM2	23414	genome.wustl.edu	37	8	106815514	106815514	+	Silent	SNP	G	G	A			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr8:106815514G>A	ENST00000407775.2	+	8	3454	c.3204G>A	c.(3202-3204)caG>caA	p.Q1068Q	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.Q936Q|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.Q936Q|ZFPM2_ENST00000378472.4_Silent_p.Q799Q	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1068					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAATCCTCAGCACGAAGACG	0.483																																						dbGAP											0													67.0	66.0	67.0					8																	106815514		1943	4142	6085	-	-	-	SO:0001819	synonymous_variant	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3204G>A	8.37:g.106815514G>A			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1068	ENST00000407775.2	37	c.3204	CCDS47908.1	8																																																																																			ZFPM2	-	NULL	ENSG00000169946		0.483	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	142	0.70	1	G			106815514	106815514	+1	no_errors	ENST00000407775	ensembl	human	known	69_37n	silent	149	21.16	40	SNP	1.000	A
ZNF12	7559	genome.wustl.edu	37	7	6730822	6730822	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr7:6730822T>C	ENST00000405858.1	-	5	2292	c.1751A>G	c.(1750-1752)aAa>aGa	p.K584R	AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.K546R|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.K510R	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	584					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCAGAAGGTTTTCCCACATTC	0.408																																						dbGAP											0													58.0	62.0	61.0					7																	6730822		2195	4298	6493	-	-	-	SO:0001583	missense	0			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1751A>G	7.37:g.6730822T>C	ENSP00000385939:p.Lys584Arg		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K584R	ENST00000405858.1	37	c.1751	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	T	18.11	3.551110	0.65311	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	T;T;T	0.26223	1.75;1.75;1.75	4.0	4.0	0.46444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40728	N	0.001035	T	0.45538	0.1347	M	0.65320	2	0.41553	D	0.988585	D;D	0.89917	0.998;1.0	D;D	0.87578	0.996;0.998	T	0.43294	-0.9400	10	0.56958	D	0.05	.	11.5083	0.50479	0.0:0.0:0.0:1.0	.	584;546	P17014;P17014-5	ZNF12_HUMAN;.	R	510;584;546;642	ENSP00000384405:K510R;ENSP00000385939:K584R;ENSP00000344745:K546R	ENSP00000344745:K546R	K	-	2	0	ZNF12	6697347	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	4.053000	0.57427	2.039000	0.60335	0.533000	0.62120	AAA	ZNF12	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164631		0.408	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	267	0.00	0	T	NM_016265		6730822	6730822	-1	no_errors	ENST00000405858	ensembl	human	known	69_37n	missense	102	30.61	45	SNP	1.000	C
ZNF469	84627	genome.wustl.edu	37	16	88505324	88505324	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr16:88505324A>C	ENST00000437464.1	+	2	11362	c.11362A>C	c.(11362-11364)Aag>Cag	p.K3788Q	ZNF469_ENST00000565624.1_Missense_Mutation_p.K3816Q	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	3788					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GAGCAGTACGAAGAGGAAAAA	0.662																																						dbGAP											0													33.0	47.0	43.0					16																	88505324		692	1591	2283	-	-	-	SO:0001583	missense	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.11362A>C	16.37:g.88505324A>C	ENSP00000402343:p.Lys3788Gln			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K3788Q	ENST00000437464.1	37	c.11362	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	A	6.005	0.369271	0.11352	.	.	ENSG00000225614	ENST00000437464	T	0.12672	2.66	4.01	2.9	0.33743	.	.	.	.	.	T	0.17874	0.0429	L	0.32530	0.975	0.09310	N	1	D	0.62365	0.991	P	0.55667	0.781	T	0.09207	-1.0685	9	0.59425	D	0.04	-2.8593	6.9754	0.24672	0.8916:0.0:0.1084:0.0	.	3788	Q96JG9	ZN469_HUMAN	Q	3788	ENSP00000402343:K3788Q	ENSP00000402343:K3788Q	K	+	1	0	ZNF469	87032825	0.963000	0.33076	0.001000	0.08648	0.015000	0.08874	1.228000	0.32588	0.431000	0.26258	0.379000	0.24179	AAG	ZNF469	-	NULL	ENSG00000225614		0.662	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		51	0.00	0	A	NG_012236		88505324	88505324	+1	no_errors	ENST00000437464	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	0.210	C
ZSCAN18	65982	genome.wustl.edu	37	19	58601320	58601320	+	Silent	SNP	G	G	C			TCGA-C8-A135-01A-11D-A10Y-09	TCGA-C8-A135-10A-02D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6b47c22f-8b4e-40fd-9a12-18b539521224	4fef2aff-1a1d-434a-910b-ce94fff48677	g.chr19:58601320G>C	ENST00000240727.6	-	2	714	c.315C>G	c.(313-315)gtC>gtG	p.V105V	ZSCAN18_ENST00000600404.1_Silent_p.V161V|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Silent_p.V105V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	105	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCAGGGCCGGACCTTATCAG	0.647																																						dbGAP											0													68.0	69.0	69.0					19																	58601320		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.315C>G	19.37:g.58601320G>C			B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.V161	ENST00000240727.6	37	c.483	CCDS12971.1	19																																																																																			ZSCAN18	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000121413		0.647	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1	126	0.00	0	G	NM_023926		58601320	58601320	-1	no_errors	ENST00000433686	ensembl	human	known	69_37n	silent	56	26.32	20	SNP	0.063	C
