#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
ABCA9	10350	genome.wustl.edu	37	17	66987049	66987049	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr17:66987049C>T	ENST00000340001.4	-	29	3977	c.3766G>A	c.(3766-3768)Gga>Aga	p.G1256R	ABCA9_ENST00000370732.2_Missense_Mutation_p.G1256R|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000453985.2_Missense_Mutation_p.G1218R	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1256					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCCTCCTCTCCTTCAGGCTCT	0.393																																						dbGAP											0													184.0	155.0	165.0					17																	66987049		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3766G>A	17.37:g.66987049C>T	ENSP00000342216:p.Gly1256Arg		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G1256R	ENST00000340001.4	37	c.3766	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023427	0.54683	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.87179	-2.1;-2.22	5.4	5.4	0.78164	.	0.300824	0.23387	N	0.048727	D	0.92110	0.7499	M	0.73962	2.25	0.26823	N	0.968743	D;P	0.56287	0.975;0.834	P;B	0.58780	0.845;0.379	D	0.87015	0.2125	10	0.52906	T	0.07	.	17.7247	0.88362	0.0:1.0:0.0:0.0	.	1256;1256	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	R	1256;1201;1256	ENSP00000342216:G1256R;ENSP00000359767:G1256R	ENSP00000342216:G1256R	G	-	1	0	ABCA9	64498644	0.290000	0.24343	1.000000	0.80357	0.208000	0.24298	2.018000	0.40991	2.541000	0.85698	0.655000	0.94253	GGA	ABCA9	-	NULL	ENSG00000154258		0.393	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	219	0.00	0	C	NM_172386		66987049	66987049	-1	no_errors	ENST00000340001	ensembl	human	known	69_37n	missense	188	27.13	70	SNP	0.989	T
ABCD3	5825	genome.wustl.edu	37	1	94955532	94955532	+	Splice_Site	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr1:94955532G>C	ENST00000370214.4	+	15	1346		c.e15+1		ABCD3_ENST00000536817.1_Splice_Site|ABCD3_ENST00000454898.2_Splice_Site|ABCD3_ENST00000484213.1_Splice_Site|ABCD3_ENST00000394233.2_Splice_Site	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3						ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ACATTATAAAGTACGTACAGA	0.308																																						dbGAP											0													95.0	93.0	94.0					1																	94955532		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1322+1G>C	1.37:g.94955532G>C			D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Splice_Site	SNP	-	e16+1	ENST00000370214.4	37	c.1394+1	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605133	0.87157	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1454	0.98074	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCD3	94728120	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.156000	0.94705	2.748000	0.94277	0.650000	0.86243	.	ABCD3	-	-	ENSG00000117528		0.308	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	69	0.00	0	G	NM_002858	Intron	94955532	94955532	+1	no_errors	ENST00000454898	ensembl	human	known	69_37n	splice_site	61	14.08	10	SNP	1.000	C
ABCG1	9619	genome.wustl.edu	37	21	43714747	43714747	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr21:43714747G>C	ENST00000361802.2	+	14	1930	c.1785G>C	c.(1783-1785)tgG>tgC	p.W595C	ABCG1_ENST00000398437.1_Missense_Mutation_p.W741C|ABCG1_ENST00000340588.4_Missense_Mutation_p.W703C|ABCG1_ENST00000398457.2_Missense_Mutation_p.W585C|ABCG1_ENST00000343687.3_Missense_Mutation_p.W594C|ABCG1_ENST00000398449.3_Missense_Mutation_p.W583C|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.W580C	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	595	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ACCTACAGTGGATGTCCTACA	0.627																																						dbGAP											0													128.0	102.0	111.0					21																	43714747		2203	4300	6503	-	-	-	SO:0001583	missense	0			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1785G>C	21.37:g.43714747G>C	ENSP00000354995:p.Trp595Cys		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.W741C	ENST00000361802.2	37	c.2223	CCDS13682.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.392555|4.392555	0.83011|0.83011	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000489035;ENST00000469119|ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	.|T;T;T;T;T;T;T	.|0.77098	.|-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	4.56|4.56	4.56|4.56	0.56223|0.56223	.|ABC-2 type transporter (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91700|0.91700	0.7376|0.7376	H|H	0.95679|0.95679	3.705|3.705	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|0.99;0.999;1.0;0.999;0.999;0.997	D|D	0.94447|0.94447	0.7664|0.7664	5|9	.|.	.|.	.|.	-20.0376|-20.0376	17.7233|17.7233	0.88358|0.88358	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|606;594;595;583;580;585	.|B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.|.;.;ABCG1_HUMAN;.;.;.	H|C	331;319|585;580;583;595;594;741;703	.|ENSP00000381475:W585C;ENSP00000291524:W580C;ENSP00000381467:W583C;ENSP00000354995:W595C;ENSP00000339744:W594C;ENSP00000381464:W741C;ENSP00000343820:W703C	.|.	D|W	+|+	1|3	0|0	ABCG1|ABCG1	42587816|42587816	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.451000|9.451000	0.97610|0.97610	2.240000|2.240000	0.73641|0.73641	0.491000|0.491000	0.48974|0.48974	GAT|TGG	ABCG1	-	pfam_ABC_2_trans,tigrfam_Pigment_permease	ENSG00000160179		0.627	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	131	0.00	0	G	NM_207174		43714747	43714747	+1	no_errors	ENST00000398437	ensembl	human	known	69_37n	missense	138	12.66	20	SNP	1.000	C
ADAMTS18	170692	genome.wustl.edu	37	16	77398163	77398163	+	Silent	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr16:77398163G>A	ENST00000282849.5	-	5	1312	c.894C>T	c.(892-894)ctC>ctT	p.L298L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	298	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTGCCACCACGAGGGTTTCCA	0.483																																						dbGAP											0													134.0	122.0	126.0					16																	77398163		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.894C>T	16.37:g.77398163G>A			Q6P4R5|Q6ZWJ9	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L298	ENST00000282849.5	37	c.894	CCDS10926.1	16																																																																																			ADAMTS18	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000140873		0.483	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	179	0.00	0	G			77398163	77398163	-1	no_errors	ENST00000282849	ensembl	human	known	69_37n	silent	168	11.11	21	SNP	0.011	A
ANKAR	150709	genome.wustl.edu	37	2	190559825	190559825	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr2:190559825G>A	ENST00000520309.1	+	6	1514	c.1426G>A	c.(1426-1428)Gat>Aat	p.D476N	ANKAR_ENST00000438402.2_Missense_Mutation_p.D476N|ANKAR_ENST00000281412.6_Missense_Mutation_p.D240N|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Missense_Mutation_p.D476N|ANKAR_ENST00000431575.2_Missense_Mutation_p.D405N	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	476						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TCCACTGACAGATGCTCAATT	0.343																																						dbGAP											0													72.0	71.0	71.0					2																	190559825		2203	4298	6501	-	-	-	SO:0001583	missense	0			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1426G>A	2.37:g.190559825G>A	ENSP00000427882:p.Asp476Asn		Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo	p.D476N	ENST00000520309.1	37	c.1426	CCDS33351.2	2	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166395	0.57476	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.58060	0.4;0.4;0.36;0.4;0.42	5.92	5.92	0.95590	.	0.143577	0.34435	N	0.003967	T	0.65312	0.2679	L	0.53249	1.67	0.43703	D	0.996162	.	.	.	.	.	.	T	0.62006	-0.6945	8	0.48119	T	0.1	-14.6443	19.0887	0.93217	0.0:0.0:1.0:0.0	.	.	.	.	N	476;476;476;405;240	ENSP00000427882:D476N;ENSP00000313513:D476N;ENSP00000397243:D476N;ENSP00000393043:D405N;ENSP00000281412:D240N	ENSP00000281412:D240N	D	+	1	0	ANKAR	190268070	1.000000	0.71417	1.000000	0.80357	0.290000	0.27261	6.936000	0.75892	2.801000	0.96364	0.650000	0.86243	GAT	ANKAR	-	NULL	ENSG00000151687		0.343	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKAR	HGNC	protein_coding	OTTHUMT00000335045.3	97	0.00	0	G	NM_144708		190559825	190559825	+1	no_errors	ENST00000313581	ensembl	human	known	69_37n	missense	106	15.87	20	SNP	1.000	A
ALS2	57679	genome.wustl.edu	37	2	202571627	202571627	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr2:202571627C>T	ENST00000264276.6	-	29	4894	c.4522G>A	c.(4522-4524)Gtc>Atc	p.V1508I	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1508					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGTCGAAGGACACATTCCCAG	0.448																																						dbGAP											0													100.0	96.0	97.0					2																	202571627		1897	4117	6014	-	-	-	SO:0001583	missense	0			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.4522G>A	2.37:g.202571627C>T	ENSP00000264276:p.Val1508Ile		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain	p.V1508I	ENST00000264276.6	37	c.4522	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900385	0.92035	.	.	ENSG00000003393	ENST00000264276	T	0.24538	1.85	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	L	0.28274	0.84	0.80722	D	1	B	0.28713	0.22	B	0.32393	0.145	T	0.03545	-1.1026	10	0.25751	T	0.34	.	19.478	0.94996	0.0:1.0:0.0:0.0	.	1508	Q96Q42	ALS2_HUMAN	I	1508	ENSP00000264276:V1508I	ENSP00000264276:V1508I	V	-	1	0	ALS2	202279872	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.026000	0.76455	2.603000	0.88011	0.563000	0.77884	GTC	ALS2	-	NULL	ENSG00000003393		0.448	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	59	0.00	0	C	NM_020919		202571627	202571627	-1	no_errors	ENST00000264276	ensembl	human	known	69_37n	missense	83	14.29	14	SNP	1.000	T
ARHGAP26	23092	genome.wustl.edu	37	5	142283104	142283104	+	Splice_Site	SNP	G	G	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr5:142283104G>T	ENST00000274498.4	+	8	1080		c.e8-1		ARHGAP26_ENST00000378004.3_Splice_Site	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCATCCTAGACAAGAAATC	0.353																																						dbGAP											0													63.0	60.0	61.0					5																	142283104		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.703-1G>T	5.37:g.142283104G>T			O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Splice_Site	SNP	-	e8-1	ENST00000274498.4	37	c.703-1	CCDS4277.1	5	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713024	0.68730	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3843	0.94550	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP26	142263288	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.574000	0.86865	0.563000	0.77884	.	ARHGAP26	-	-	ENSG00000145819		0.353	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP26	HGNC	protein_coding	OTTHUMT00000132744.3	34	0.00	0	G	NM_015071	Intron	142283104	142283104	+1	no_errors	ENST00000274498	ensembl	human	known	69_37n	splice_site	16	30.43	7	SNP	1.000	T
ASAP3	55616	genome.wustl.edu	37	1	23763508	23763508	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr1:23763508C>A	ENST00000336689.3	-	15	1416	c.1372G>T	c.(1372-1374)Gtg>Ttg	p.V458L	ASAP3_ENST00000437606.2_Missense_Mutation_p.V449L|ASAP3_ENST00000495646.1_5'Flank	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	458	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CAGGTGAGCACGCCCAGGTTG	0.667																																						dbGAP											0													28.0	25.0	26.0					1																	23763508		2201	4296	6497	-	-	-	SO:0001583	missense	0			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1372G>T	1.37:g.23763508C>A	ENSP00000338769:p.Val458Leu		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,prints_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP	p.V458L	ENST00000336689.3	37	c.1372	CCDS235.1	1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678150	0.68042	.	.	ENSG00000088280	ENST00000336689;ENST00000437606	T;T	0.51817	0.69;0.69	4.54	2.66	0.31614	.	0.245126	0.33075	N	0.005305	T	0.44008	0.1273	M	0.76727	2.345	0.32816	D	0.502091	B;B;B	0.33637	0.367;0.347;0.42	B;B;B	0.34652	0.08;0.187;0.131	T	0.58381	-0.7646	10	0.72032	D	0.01	.	5.11	0.14804	0.0:0.6322:0.0:0.3678	.	449;327;458	Q8TDY4-3;B4DRP2;Q8TDY4	.;.;ASAP3_HUMAN	L	458;449	ENSP00000338769:V458L;ENSP00000408826:V449L	ENSP00000338769:V458L	V	-	1	0	ASAP3	23636095	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.956000	0.56722	1.269000	0.44280	0.478000	0.44815	GTG	ASAP3	-	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,prints_ArfGAP,pfscan_ArfGAP	ENSG00000088280		0.667	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP3	HGNC	protein_coding	OTTHUMT00000008916.2	14	0.00	0	C	NM_017707		23763508	23763508	-1	no_errors	ENST00000336689	ensembl	human	known	69_37n	missense	18	37.93	11	SNP	1.000	A
ASCC3	10973	genome.wustl.edu	37	6	101109699	101109699	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr6:101109699C>G	ENST00000369162.2	-	16	3030	c.2686G>C	c.(2686-2688)Gat>Cat	p.D896H		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	896	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTTAGGTTATCTGCAAGGCTT	0.383																																						dbGAP											0													140.0	138.0	139.0					6																	101109699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.2686G>C	6.37:g.101109699C>G	ENSP00000358159:p.Asp896His		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D896H	ENST00000369162.2	37	c.2686	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472991	0.84640	.	.	ENSG00000112249	ENST00000369162	T	0.43688	0.94	5.76	5.76	0.90799	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76008	-0.3116	10	0.87932	D	0	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	896	Q8N3C0	HELC1_HUMAN	H	896	ENSP00000358159:D896H	ENSP00000358159:D896H	D	-	1	0	ASCC3	101216420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.861000	0.69553	2.880000	0.98712	0.650000	0.86243	GAT	ASCC3	-	pfscan_Helicase_C	ENSG00000112249		0.383	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	123	0.00	0	C	NM_006828		101109699	101109699	-1	no_errors	ENST00000369162	ensembl	human	known	69_37n	missense	179	10.50	21	SNP	1.000	G
ATF1	466	genome.wustl.edu	37	12	51208091	51208091	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr12:51208091G>C	ENST00000262053.3	+	6	562	c.540G>C	c.(538-540)caG>caC	p.Q180H	ATF1_ENST00000539132.1_Missense_Mutation_p.Q45H	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	180					cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	AAACATATCAGATCCGAACTA	0.438			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """																																	dbGAP		Dom	yes		12	12q13	466	activating transcription factor 1		"""E, M"""	0													142.0	108.0	120.0					12																	51208091		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"""basic leucine zipper proteins"""	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.540G>C	12.37:g.51208091G>C	ENSP00000262053:p.Gln180His		B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	pfam_bZIP_1,pfam_Coactivator_CBP_pKID,pfam_bZIP_2,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB	p.Q180H	ENST00000262053.3	37	c.540	CCDS8803.1	12	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705102	0.48412	.	.	ENSG00000123268	ENST00000262053;ENST00000539132;ENST00000552487	T;T;T	0.66815	0.22;0.31;-0.23	4.79	2.9	0.33743	.	0.000000	0.85682	D	0.000000	T	0.79839	0.4515	M	0.81802	2.56	0.58432	D	0.999999	D	0.67145	0.996	D	0.75484	0.986	T	0.79843	-0.1632	10	0.87932	D	0	-0.1449	9.9845	0.41832	0.0762:0.1392:0.7846:0.0	.	180	P18846	ATF1_HUMAN	H	180;45;180	ENSP00000262053:Q180H;ENSP00000438403:Q45H;ENSP00000448921:Q180H	ENSP00000262053:Q180H	Q	+	3	2	ATF1	49494358	1.000000	0.71417	0.995000	0.50966	0.229000	0.25112	6.177000	0.71961	0.524000	0.28502	0.561000	0.74099	CAG	ATF1	-	prints_Leuzip_CREB	ENSG00000123268		0.438	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF1	HGNC	protein_coding	OTTHUMT00000404285.1	94	0.00	0	G	NM_005171		51208091	51208091	+1	no_errors	ENST00000262053	ensembl	human	known	69_37n	missense	83	11.70	11	SNP	1.000	C
ATG9A	79065	genome.wustl.edu	37	2	220088405	220088405	+	Missense_Mutation	SNP	T	T	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr2:220088405T>G	ENST00000409618.1	-	10	1940	c.1501A>C	c.(1501-1503)Att>Ctt	p.I501L	AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000396761.2_Missense_Mutation_p.I501L|ATG9A_ENST00000409422.1_Missense_Mutation_p.I440L|ATG9A_ENST00000361242.4_Missense_Mutation_p.I501L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	501					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGTCTATAATCTCCAGGGCC	0.547																																						dbGAP											0													62.0	70.0	67.0					2																	220088405		2006	4183	6189	-	-	-	SO:0001583	missense	0			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1501A>C	2.37:g.220088405T>G	ENSP00000386710:p.Ile501Leu		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3	p.I501L	ENST00000409618.1	37	c.1501	CCDS42820.1	2	.	.	.	.	.	.	.	.	.	.	T	17.01	3.278851	0.59758	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000429920	T;T;T;T;T	0.42131	1.41;1.41;1.41;0.98;1.08	5.78	4.63	0.57726	.	0.048001	0.85682	D	0.000000	T	0.46521	0.1397	M	0.71036	2.16	0.46521	D	0.999081	P	0.42357	0.777	P	0.44946	0.465	T	0.35674	-0.9779	10	0.24483	T	0.36	-8.6512	11.6972	0.51551	0.0:0.0688:0.0:0.9312	.	501	Q7Z3C6	ATG9A_HUMAN	L	501;501;501;440;60	ENSP00000379983:I501L;ENSP00000386710:I501L;ENSP00000355173:I501L;ENSP00000386535:I440L;ENSP00000400234:I60L	ENSP00000355173:I501L	I	-	1	0	ATG9A	219796649	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	7.945000	0.87732	1.020000	0.39573	0.528000	0.53228	ATT	ATG9A	-	pfam_Autophagy-rel_prot_9	ENSG00000198925		0.547	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATG9A	HGNC	protein_coding	OTTHUMT00000335930.1	44	0.00	0	T	NM_024085		220088405	220088405	-1	no_errors	ENST00000361242	ensembl	human	known	69_37n	missense	57	25.97	20	SNP	1.000	G
BBX	56987	genome.wustl.edu	37	3	107492012	107492012	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:107492012G>T	ENST00000325805.8	+	11	1731	c.1444G>T	c.(1444-1446)Gac>Tac	p.D482Y	BBX_ENST00000415149.2_Missense_Mutation_p.D482Y|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.D482Y|BBX_ENST00000402543.1_Missense_Mutation_p.D482Y			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	482	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TTCGGAATCTGACATTGAGAG	0.433																																						dbGAP											0													72.0	75.0	74.0					3																	107492012		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1444G>T	3.37:g.107492012G>T	ENSP00000319974:p.Asp482Tyr		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D482Y	ENST00000325805.8	37	c.1444	CCDS46881.1	3	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530224	0.64860	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	6.07	6.07	0.98685	.	0.092296	0.85682	D	0.000000	T	0.70081	0.3183	L	0.34521	1.04	0.49687	D	0.999816	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.85130	0.997;0.997;0.952	T	0.70761	-0.4784	10	0.87932	D	0	-13.6968	20.6525	0.99598	0.0:0.0:1.0:0.0	.	482;482;482	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	Y	482	ENSP00000408358:D482Y;ENSP00000385317:D482Y;ENSP00000319974:D482Y;ENSP00000385530:D482Y	ENSP00000319974:D482Y	D	+	1	0	BBX	108974702	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.857000	0.69525	2.890000	0.99128	0.585000	0.79938	GAC	BBX	-	NULL	ENSG00000114439		0.433	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1	31	0.00	0	G	NM_020235		107492012	107492012	+1	no_errors	ENST00000325805	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	1.000	T
C14orf159	80017	genome.wustl.edu	37	14	91671099	91671099	+	Silent	SNP	T	T	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr14:91671099T>C	ENST00000523771.1	+	12	2082	c.1479T>C	c.(1477-1479)gcT>gcC	p.A493A	C14orf159_ENST00000521077.2_Intron|C14orf159_ENST00000523816.1_Silent_p.A493A|C14orf159_ENST00000520328.1_Intron|C14orf159_ENST00000428926.2_Silent_p.A493A|C14orf159_ENST00000256324.10_Silent_p.A498A|C14orf159_ENST00000525393.2_Silent_p.A369A|C14orf159_ENST00000522322.1_Silent_p.A493A|C14orf159_ENST00000412671.2_Silent_p.A498A|C14orf159_ENST00000518868.1_Silent_p.A498A			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	493						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TCAAGGAGGCTGTGAGGAGGC	0.622																																						dbGAP											0													173.0	113.0	133.0					14																	91671099		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1479T>C	14.37:g.91671099T>C			B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	pfam_DUF1445,pirsf_UPF0317_mt	p.L483P	ENST00000523771.1	37	c.1448	CCDS32141.1	14	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326446	0.24080	.	.	ENSG00000133943	ENST00000522816	.	.	.	5.17	-7.6	0.01303	.	.	.	.	.	T	0.36220	0.0959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44345	-0.9334	4	.	.	.	.	3.3681	0.07211	0.2112:0.111:0.1058:0.572	.	.	.	.	P	94	.	.	L	+	2	0	C14orf159	90740852	0.668000	0.27493	0.246000	0.24233	0.787000	0.44495	-0.322000	0.08007	-0.903000	0.03881	0.482000	0.46254	CTG	C14orf159	-	pirsf_UPF0317_mt	ENSG00000133943		0.622	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf159	HGNC	protein_coding	OTTHUMT00000381273.1	147	0.00	0	T	NM_024952		91671099	91671099	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000523461	ensembl	human	known	69_37n	missense	134	11.26	17	SNP	0.731	C
COA6	388753	genome.wustl.edu	37	1	234510115	234510115	+	Missense_Mutation	SNP	T	T	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr1:234510115T>A	ENST00000366613.1	+	2	298	c.262T>A	c.(262-264)Tca>Aca	p.S88T	COA6_ENST00000366612.1_Missense_Mutation_p.S42T|COA6_ENST00000366615.4_Missense_Mutation_p.S118T|RP5-827C21.4_ENST00000451795.1_RNA|RP5-827C21.6_ENST00000610233.1_RNA	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	88						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										CTCTTTCGAATCAAGTTGTCC	0.458																																						dbGAP											0													107.0	105.0	105.0					1																	234510115		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"""Mitochondrial respiratory chain complex assembly factors"""	18025	protein-coding gene	gene with protein product		614772	"""chromosome 1 open reading frame 31"""	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.262T>A	1.37:g.234510115T>A	ENSP00000355572:p.Ser88Thr		Q5JTJ2|Q5JTJ4|Q8TA88	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B	p.S118T	ENST00000366613.1	37	c.352	CCDS31059.1	1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.426522	0.43020	.	.	ENSG00000168275	ENST00000366615;ENST00000424237;ENST00000366613;ENST00000366612	D;D;D	0.84070	-1.8;-1.8;-1.8	4.95	0.725	0.18242	.	0.464590	0.22125	N	0.064271	T	0.71609	0.3360	L	0.38953	1.18	0.22280	N	0.999235	P	0.37914	0.611	B	0.37731	0.257	T	0.60801	-0.7191	10	0.39692	T	0.17	.	6.9764	0.24677	0.2363:0.0:0.4774:0.2864	.	88	Q5JTJ3	CA031_HUMAN	T	118;119;88;42	ENSP00000355574:S118T;ENSP00000355572:S88T;ENSP00000355571:S42T	ENSP00000355571:S42T	S	+	1	0	C1orf31	232576738	0.737000	0.28175	0.966000	0.40874	0.875000	0.50365	0.705000	0.25675	-0.063000	0.13065	-0.313000	0.08912	TCA	C1orf31	-	pfam_Cyt_c_oxidase_su6B,superfamily_Cyt_c_oxidase_su6B	ENSG00000168275		0.458	COA6-002	NOVEL	basic|CCDS	protein_coding	C1orf31	HGNC	protein_coding	OTTHUMT00000092613.1	83	0.00	0	T	NM_001012985		234510115	234510115	+1	no_errors	ENST00000366615	ensembl	human	known	69_37n	missense	76	10.59	9	SNP	0.972	A
C2orf40	84417	genome.wustl.edu	37	2	106694341	106694341	+	Missense_Mutation	SNP	G	G	T	rs148850657		TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr2:106694341G>T	ENST00000238044.3	+	4	515	c.406G>T	c.(406-408)Ggc>Tgc	p.G136C	C2orf40_ENST00000409944.1_Missense_Mutation_p.G100C	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	136					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						GAGCCCCTACGGCTTTAGGCA	0.463																																						dbGAP											0													100.0	81.0	87.0					2																	106694341		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.406G>T	2.37:g.106694341G>T	ENSP00000238044:p.Gly136Cys		D3DVK2	Missense_Mutation	SNP	NULL	p.G136C	ENST00000238044.3	37	c.406	CCDS2072.1	2	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390486	0.25118	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.44083	0.93;0.93;0.93	5.31	-2.06	0.07298	.	0.423756	0.27117	N	0.020849	T	0.24314	0.0589	N	0.08118	0	0.09310	N	1	P	0.43857	0.819	P	0.48368	0.575	T	0.23404	-1.0189	10	0.62326	D	0.03	-8.1661	6.1141	0.20117	0.6384:0.0:0.2554:0.1062	.	136	Q9H1Z8	AUGN_HUMAN	C	100;136;138	ENSP00000386421:G100C;ENSP00000238044:G136C;ENSP00000388664:G138C	ENSP00000238044:G136C	G	+	1	0	C2orf40	106060773	0.563000	0.26594	0.010000	0.14722	0.008000	0.06430	0.651000	0.24873	-0.289000	0.09038	-1.628000	0.00784	GGC	C2orf40	-	NULL	ENSG00000119147		0.463	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf40	HGNC	protein_coding	OTTHUMT00000253515.2	82	0.00	0	G	NM_032411		106694341	106694341	+1	no_errors	ENST00000238044	ensembl	human	known	69_37n	missense	57	41.84	41	SNP	0.132	T
CARD11	84433	genome.wustl.edu	37	7	2954887	2954887	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr7:2954887C>G	ENST00000396946.4	-	21	3226	c.2823G>C	c.(2821-2823)ttG>ttC	p.L941F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	941					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTTCTCAGTCAAGAGCTTGG	0.622			Mis		DLBCL																																	dbGAP		Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0													110.0	101.0	104.0					7																	2954887		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2823G>C	7.37:g.2954887C>G	ENSP00000380150:p.Leu941Phe		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.L941F	ENST00000396946.4	37	c.2823	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740983	0.30865	.	.	ENSG00000198286	ENST00000396946	T	0.32023	1.47	4.54	4.54	0.55810	.	0.574676	0.15934	N	0.237538	T	0.14485	0.0350	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15636	-1.0430	10	0.07990	T	0.79	-9.3376	11.437	0.50074	0.1793:0.8207:0.0:0.0	.	941	Q9BXL7	CAR11_HUMAN	F	941	ENSP00000380150:L941F	ENSP00000380150:L941F	L	-	3	2	CARD11	2921413	0.000000	0.05858	0.753000	0.31225	0.916000	0.54674	0.251000	0.18257	2.067000	0.61834	0.407000	0.27541	TTG	CARD11	-	NULL	ENSG00000198286		0.622	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	83	0.00	0	C	NM_032415		2954887	2954887	-1	no_errors	ENST00000396946	ensembl	human	known	69_37n	missense	67	10.67	8	SNP	0.170	G
C7orf61	402573	genome.wustl.edu	37	7	100061589	100061589	+	Silent	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr7:100061589G>A	ENST00000332375.3	-	1	305	c.60C>T	c.(58-60)tcC>tcT	p.S20S	RN7SL161P_ENST00000582642.1_RNA|TSC22D4_ENST00000496728.1_5'UTR	NM_001004323.1	NP_001004323.1	Q8IZ16	CG061_HUMAN	chromosome 7 open reading frame 61	20						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						AACTCACCCAGGAAATAATCC	0.537																																						dbGAP											0													53.0	52.0	52.0					7																	100061589		1965	4163	6128	-	-	-	SO:0001819	synonymous_variant	0				CCDS47661.1	7q22.1	2013-10-11			ENSG00000185955	ENSG00000185955			22135	protein-coding gene	gene with protein product						12690205	Standard	NM_001004323		Approved	IMAGE:4839025	uc003uuz.1	Q8IZ16	OTTHUMG00000150234	ENST00000332375.3:c.60C>T	7.37:g.100061589G>A				Silent	SNP	NULL	p.S20	ENST00000332375.3	37	c.60	CCDS47661.1	7																																																																																			C7orf61	-	NULL	ENSG00000185955		0.537	C7orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf61	HGNC	protein_coding	OTTHUMT00000316976.2	78	0.00	0	G	NM_001004323		100061589	100061589	-1	no_errors	ENST00000332375	ensembl	human	known	69_37n	silent	79	11.24	10	SNP	0.269	A
ACKR2	1238	genome.wustl.edu	37	3	42906469	42906469	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:42906469G>C	ENST00000422265.1	+	3	650	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Missense_Mutation_p.A159P|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.A159P	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	159					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GAGGACCCGGGCCAAGAGCCT	0.507																																						dbGAP											0													76.0	80.0	78.0					3																	42906469		2203	4300	6503	-	-	-	SO:0001583	missense	0			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.475G>C	3.37:g.42906469G>C	ENSP00000416996:p.Ala159Pro		B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4	p.A159P	ENST00000422265.1	37	c.475	CCDS2706.1	3	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501538	0.44455	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.37411	1.2;1.2;1.2	5.02	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	1.137850	0.06696	N	0.770503	T	0.27454	0.0674	L	0.35644	1.08	0.09310	N	0.999995	B	0.18166	0.026	B	0.24974	0.057	T	0.31861	-0.9928	9	.	.	.	.	3.8477	0.08942	0.0848:0.1344:0.4893:0.2915	.	159	O00590	CCBP2_HUMAN	P	159	ENSP00000396150:A159P;ENSP00000416996:A159P;ENSP00000273145:A159P	.	A	+	1	0	CCBP2	42881473	0.000000	0.05858	0.474000	0.27266	0.329000	0.28539	0.524000	0.22940	0.481000	0.27557	0.563000	0.77884	GCC	CCBP2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000144648		0.507	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBP2	HGNC	protein_coding	OTTHUMT00000256645.2	68	0.00	0	G	NM_001296		42906469	42906469	+1	no_errors	ENST00000273145	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	0.024	C
CCDC88A	55704	genome.wustl.edu	37	2	55562132	55562132	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr2:55562132C>G	ENST00000436346.1	-	15	2666	c.1825G>C	c.(1825-1827)Gaa>Caa	p.E609Q	AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E609Q|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E609Q|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E609Q|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	609					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGTCTTTTTTCAAATTCAATC	0.289																																						dbGAP											0													33.0	32.0	32.0					2																	55562132		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1825G>C	2.37:g.55562132C>G	ENSP00000410608:p.Glu609Gln		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.E609Q	ENST00000436346.1	37	c.1825		2	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529824	0.64860	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.18	5.18	0.71444	.	0.000000	0.49305	U	0.000146	T	0.56292	0.1975	M	0.69823	2.125	0.80722	D	1	D;D;D	0.71674	0.974;0.998;0.957	P;D;P	0.80764	0.829;0.994;0.799	T	0.55522	-0.8128	10	0.42905	T	0.14	-18.2353	18.6882	0.91573	0.0:1.0:0.0:0.0	.	609;609;609	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Q	609	ENSP00000338728:E609Q;ENSP00000263630:E609Q;ENSP00000410608:E609Q;ENSP00000404431:E609Q	ENSP00000263630:E609Q	E	-	1	0	CCDC88A	55415636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.400000	0.81607	0.561000	0.74099	GAA	CCDC88A	-	NULL	ENSG00000115355		0.289	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		109	0.00	0	C	NM_017571		55562132	55562132	-1	no_errors	ENST00000436346	ensembl	human	known	69_37n	missense	89	17.59	19	SNP	1.000	G
CD1E	913	genome.wustl.edu	37	1	158325222	158325222	+	Missense_Mutation	SNP	T	T	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr1:158325222T>A	ENST00000368167.3	+	3	727	c.488T>A	c.(487-489)aTc>aAc	p.I163N	CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.I163N|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.I163N|CD1E_ENST00000368161.3_Missense_Mutation_p.I163N|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000444681.2_Missense_Mutation_p.I64N|CD1E_ENST00000434258.1_Missense_Mutation_p.I161N|CD1E_ENST00000368156.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	163					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGAGCAGGGATCCGGGCCCAG	0.473																																						dbGAP											0													85.0	85.0	85.0					1																	158325222		1851	4107	5958	-	-	-	SO:0001583	missense	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.488T>A	1.37:g.158325222T>A	ENSP00000357149:p.Ile163Asn		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.I163N	ENST00000368167.3	37	c.488	CCDS41417.1	1	.	.	.	.	.	.	.	.	.	.	T	3.793	-0.043187	0.07452	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000368163;ENST00000368160;ENST00000368161	T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32	4.53	1.38	0.22167	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.255590	0.28241	N	0.016073	T	0.00845	0.0028	N	0.04297	-0.235	0.09310	N	1	B;B;B;B;B;B;B	0.15719	0.008;0.003;0.0;0.002;0.001;0.005;0.014	B;B;B;B;B;B;B	0.17722	0.002;0.002;0.003;0.006;0.003;0.0;0.019	T	0.47799	-0.9089	10	0.26408	T	0.33	-2.7113	7.5181	0.27612	0.0:0.3259:0.4892:0.1849	.	64;161;64;163;163;163;163	B4E042;E7ET31;E7EP01;P15812-2;P15812;P15812-3;P15812-4	.;.;.;.;CD1E_HUMAN;.;.	N	161;64;163;163;163;163	ENSP00000401957:I161N;ENSP00000402906:I64N;ENSP00000357149:I163N;ENSP00000357145:I163N;ENSP00000357142:I163N;ENSP00000357143:I163N	ENSP00000357142:I163N	I	+	2	0	CD1E	156591846	0.021000	0.18746	0.146000	0.22360	0.181000	0.23173	0.355000	0.20163	0.186000	0.20125	-0.445000	0.05633	ATC	CD1E	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158488		0.473	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	54	0.00	0	T	NM_030893		158325222	158325222	+1	no_errors	ENST00000368167	ensembl	human	known	69_37n	missense	85	21.30	23	SNP	0.026	A
CENPE	1062	genome.wustl.edu	37	4	104066766	104066766	+	Silent	SNP	A	A	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr4:104066766A>G	ENST00000265148.3	-	31	4575	c.4486T>C	c.(4486-4488)Tta>Cta	p.L1496L	CENPE_ENST00000380026.3_Silent_p.L1471L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1496					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCACTCTTAACTCATTAATA	0.333																																						dbGAP											0													106.0	108.0	107.0					4																	104066766		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4486T>C	4.37:g.104066766A>G			A6NKY9|A8K2U7|Q4LE75	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.L1496	ENST00000265148.3	37	c.4486	CCDS34042.1	4																																																																																			CENPE	-	superfamily_Signal_recog_particl_SRP54_hlx	ENSG00000138778		0.333	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		218	0.00	0	A			104066766	104066766	-1	no_errors	ENST00000265148	ensembl	human	known	69_37n	silent	92	38.26	57	SNP	0.007	G
CHEK2P2	646096	genome.wustl.edu	37	15	20490520	20490520	+	RNA	SNP	G	G	T	rs71466675	byFrequency	TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr15:20490520G>T	ENST00000555186.1	+	0	500					NR_038836.1				checkpoint kinase 2 pseudogene 2																		ACCTTGTCAAGAAGTTGTTGG	0.433																																						dbGAP											0																																										-	-	-			0					15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20490520G>T				RNA	SNP	-	NULL	ENST00000555186.1	37	NULL		15																																																																																			CHEK2P2	-	-	ENSG00000259156		0.433	CHEK2P2-002	KNOWN	basic	processed_transcript	CHEK2P2	HGNC	pseudogene	OTTHUMT00000414654.1	11	0.00	0	G	NR_038836		20490520	20490520	+1	no_errors	ENST00000555186	ensembl	human	known	69_37n	rna	10	33.33	5	SNP	1.000	T
CLDN10	9071	genome.wustl.edu	37	13	96086130	96086130	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr13:96086130G>A	ENST00000376873.3	+	1	273	c.43G>A	c.(43-45)Ggg>Agg	p.G15R		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	17					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TGGTGTCGGAGGGTTTGGAGC	0.587																																						dbGAP											0													145.0	100.0	115.0					13																	96086130		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000376873.3:c.43G>A	13.37:g.96086130G>A	ENSP00000366069:p.Gly15Arg		Q6IBF9|Q96N78	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin10	p.G15R	ENST00000376873.3	37	c.43	CCDS9475.1	13	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047356	0.93740	.	.	ENSG00000134873	ENST00000376873	D	0.88741	-2.42	5.44	5.44	0.79542	.	.	.	.	.	D	0.94689	0.8287	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95000	0.8142	8	0.87932	D	0	.	17.8181	0.88642	0.0:0.0:1.0:0.0	.	15	Q96N78	.	R	15	ENSP00000366069:G15R	ENSP00000366069:G15R	G	+	1	0	CLDN10	94884131	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	7.301000	0.78850	2.712000	0.92718	0.563000	0.77884	GGG	CLDN10	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000134873		0.587	CLDN10-001	KNOWN	basic|CCDS	protein_coding	CLDN10	HGNC	protein_coding	OTTHUMT00000045483.3	122	0.00	0	G	NM_006984		96086130	96086130	+1	no_errors	ENST00000376873	ensembl	human	known	69_37n	missense	71	26.80	26	SNP	1.000	A
COL1A2	1278	genome.wustl.edu	37	7	94053655	94053655	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr7:94053655C>T	ENST00000297268.6	+	41	3044	c.2573C>T	c.(2572-2574)cCt>cTt	p.P858L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	858					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TAGGGACCTCCTGGCACTCCA	0.493										HNSCC(75;0.22)																												dbGAP											0													127.0	118.0	121.0					7																	94053655		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2573C>T	7.37:g.94053655C>T	ENSP00000297268:p.Pro858Leu		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.P858L	ENST00000297268.6	37	c.2573	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187433	0.57909	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.92199	-2.99	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93874	0.8040	M	0.77103	2.36	0.80722	D	1	P	0.47841	0.901	P	0.46510	0.519	D	0.94071	0.7335	10	0.66056	D	0.02	.	20.2626	0.98452	0.0:1.0:0.0:0.0	.	858	P08123	CO1A2_HUMAN	L	858;859	ENSP00000297268:P858L	ENSP00000297268:P858L	P	+	2	0	COL1A2	93891591	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	3.831000	0.55776	2.873000	0.98535	0.563000	0.77884	CCT	COL1A2	-	NULL	ENSG00000164692		0.493	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	156	0.00	0	C	NM_000089		94053655	94053655	+1	no_errors	ENST00000297268	ensembl	human	known	69_37n	missense	174	11.68	23	SNP	1.000	T
COPE	11316	genome.wustl.edu	37	19	19010527	19010528	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr19:19010527_19010528insT	ENST00000262812.4	-	10	935_936	c.887_888insA	c.(886-888)gacfs	p.D296fs	COPE_ENST00000349893.4_Frame_Shift_Ins_p.D244fs|CERS1_ENST00000542296.2_5'Flank|COPE_ENST00000351079.4_Frame_Shift_Ins_p.D245fs|COPE_ENST00000600932.1_Frame_Shift_Ins_p.D319fs|COPE_ENST00000598969.1_5'UTR	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	296					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						GCCTGTCAAAGTCGTTCTCCTT	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.888dupA	19.37:g.19010528_19010528dupT	ENSP00000262812:p.Asp296fs		A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Frame_Shift_Ins	INS	pfam_Coatomer_esu,pirsf_Coatomer_esu	p.D296fs	ENST00000262812.4	37	c.888_887	CCDS12387.1	19																																																																																			COPE	-	pfam_Coatomer_esu,pirsf_Coatomer_esu	ENSG00000105669		0.629	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1	76	0.00	0	-	NM_007263		19010527	19010528	-1	no_errors	ENST00000262812	ensembl	human	known	69_37n	frame_shift_ins	54	29.87	23	INS	0.999:1.000	T
CYP27B1	1594	genome.wustl.edu	37	12	58157933	58157933	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr12:58157933G>A	ENST00000228606.4	-	7	1372	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	388					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	TGGGACACGAGAATTTCCAGG	0.463																																						dbGAP											0													99.0	93.0	95.0					12																	58157933		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.1163C>T	12.37:g.58157933G>A	ENSP00000228606:p.Ser388Phe		B2RC61|Q548T3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S388F	ENST00000228606.4	37	c.1163	CCDS8954.1	12	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336134	0.81801	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.69306	-0.39;-0.39	4.65	4.65	0.58169	.	0.118823	0.56097	D	0.000030	T	0.71576	0.3356	L	0.28344	0.845	0.52099	D	0.999944	D	0.64830	0.994	D	0.72982	0.979	T	0.71836	-0.4472	10	0.39692	T	0.17	.	16.4335	0.83861	0.0:0.0:1.0:0.0	.	388	O15528	CP27B_HUMAN	F	388;153	ENSP00000228606:S388F;ENSP00000449472:S153F	ENSP00000228606:S388F	S	-	2	0	CYP27B1	56444200	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.994000	0.93529	2.420000	0.82092	0.462000	0.41574	TCT	CYP27B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000111012		0.463	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27B1	HGNC	protein_coding	OTTHUMT00000409248.1	58	0.00	0	G	NM_000785		58157933	58157933	-1	no_errors	ENST00000228606	ensembl	human	known	69_37n	missense	47	14.55	8	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56468688	56468688	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr6:56468688C>T	ENST00000361203.3	-	36	10112	c.10105G>A	c.(10105-10107)Gaa>Aaa	p.E3369K	DST_ENST00000446842.2_Missense_Mutation_p.E3043K|DST_ENST00000370754.5_Missense_Mutation_p.E3547K|DST_ENST00000312431.6_Missense_Mutation_p.E3369K|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.E3369K|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	3369					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAAGTACATTCCAAATGGCTT	0.403																																						dbGAP											0													67.0	62.0	63.0					6																	56468688		1864	4105	5969	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.10105G>A	6.37:g.56468688C>T	ENSP00000354508:p.Glu3369Lys		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E3547K	ENST00000361203.3	37	c.10639		6	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449742	0.26074	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81821	-0.05;-0.05;0.9;-1.54;-0.07;-0.78	5.63	4.76	0.60689	.	0.625108	0.14282	N	0.329469	T	0.52224	0.1721	.	.	.	0.27863	N	0.940314	B	0.15141	0.012	B	0.12156	0.007	T	0.39272	-0.9622	8	0.30854	T	0.27	.	7.977	0.30161	0.0:0.7836:0.0:0.2164	.	3043	Q03001-9	.	K	3547;3369;3043;3369;3369;3043	ENSP00000359790:E3547K;ENSP00000359805:E3369K;ENSP00000393645:E3043K;ENSP00000307959:E3369K;ENSP00000354508:E3369K;ENSP00000404924:E3043K	ENSP00000307959:E3369K	E	-	1	0	DST	56576647	0.822000	0.29219	0.044000	0.18714	0.060000	0.15804	3.232000	0.51302	1.381000	0.46364	0.655000	0.94253	GAA	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	82	0.00	0	C	NM_001723		56468688	56468688	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	97	14.16	16	SNP	0.048	T
DUOX2	50506	genome.wustl.edu	37	15	45392998	45392998	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr15:45392998G>T	ENST00000603300.1	-	23	3162	c.2960C>A	c.(2959-2961)gCc>gAc	p.A987D	DUOX2_ENST00000389039.6_Missense_Mutation_p.A987D	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	987	Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGCTCTGGGGCTTCTGGGGC	0.577																																						dbGAP											0													66.0	75.0	72.0					15																	45392998		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2960C>A	15.37:g.45392998G>T	ENSP00000475084:p.Ala987Asp		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.A987D	ENST00000603300.1	37	c.2960	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	G	8.841	0.942138	0.18281	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.0	-0.519	0.11939	.	2.060850	0.01697	N	0.026964	T	0.27798	0.0684	N	0.20530	0.585	0.09310	N	1	B	0.24823	0.112	B	0.22386	0.039	T	0.13683	-1.0500	9	0.12103	T	0.63	-1.2655	8.7041	0.34343	0.4407:0.0:0.5593:0.0	.	987	Q9NRD8	DUOX2_HUMAN	D	987	.	ENSP00000373691:A987D	A	-	2	0	DUOX2	43180290	0.008000	0.16893	0.004000	0.12327	0.501000	0.33797	1.162000	0.31786	-0.008000	0.14320	0.563000	0.77884	GCC	DUOX2	-	NULL	ENSG00000140279		0.577	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		119	0.00	0	G	NM_014080		45392998	45392998	-1	no_errors	ENST00000389039	ensembl	human	known	69_37n	missense	73	27.00	27	SNP	0.012	T
ELFN1	392617	genome.wustl.edu	37	7	1786622	1786623	+	Missense_Mutation	DNP	GC	GC	AA	rs200235323	byFrequency	TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr7:1786622_1786623GC>AA	ENST00000424383.2	+	3	2877_2878	c.2390_2391GC>AA	c.(2389-2391)gGC>gAA	p.G797E	ELFN1_ENST00000541472.1_Missense_Mutation_p.G775E|ELFN1_ENST00000561626.1_Missense_Mutation_p.G797E			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	797					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						ATGGCCGCGGGCCATGCCCTGC	0.644																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	Exception_encountered	7.37:g.1786622_1786623delinsAA	ENSP00000456548:p.Gly797Glu		H3BS57	Missense_Mutation|Silent	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G797D|p.G797	ENST00000424383.2	37	c.2390|c.2391	CCDS59046.1	7																																																																																			ELFN1	-	NULL	ENSG00000225968		0.644	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ELFN1	HGNC	protein_coding	OTTHUMT00000322893.2	37|36	0.00	0	G|C	NM_001128636		1786622|1786623	1786622|1786623	+1	no_errors	ENST00000424383	ensembl	human	known	69_37n	missense|silent	31	26.19	11	SNP	1.000	A
ELTD1	64123	genome.wustl.edu	37	1	79403528	79403528	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr1:79403528T>A	ENST00000370742.3	-	6	787	c.724A>T	c.(724-726)Aag>Tag	p.K242*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	242					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCTGTGGTCTTTTGGAAGCTC	0.353																																						dbGAP											0													177.0	164.0	168.0					1																	79403528		1838	4085	5923	-	-	-	SO:0001587	stop_gained	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.724A>T	1.37:g.79403528T>A	ENSP00000359778:p.Lys242*		B1AR71|Q5KU34	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.K242*	ENST00000370742.3	37	c.724	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	T	37	6.205417	0.97376	.	.	ENSG00000162618	ENST00000370742	.	.	.	5.79	5.79	0.91817	.	0.187977	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1341	0.81471	0.0:0.0:0.0:1.0	.	.	.	.	X	242	.	.	K	-	1	0	ELTD1	79176116	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.480000	0.60243	2.200000	0.70718	0.455000	0.32223	AAG	ELTD1	-	pfam_DUF3497	ENSG00000162618		0.353	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	112	0.00	0	T	NM_022159		79403528	79403528	-1	no_errors	ENST00000370742	ensembl	human	known	69_37n	nonsense	87	31.50	40	SNP	1.000	A
EPHB1	2047	genome.wustl.edu	37	3	134911476	134911476	+	Silent	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:134911476C>T	ENST00000398015.3	+	11	2311	c.1941C>T	c.(1939-1941)taC>taT	p.Y647Y	EPHB1_ENST00000493838.1_Silent_p.Y208Y	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	647	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGGAAATCTACGTGGCCATCA	0.517																																						dbGAP											0													73.0	78.0	76.0					3																	134911476		2179	4298	6477	-	-	-	SO:0001819	synonymous_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1941C>T	3.37:g.134911476C>T			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.Y647	ENST00000398015.3	37	c.1941	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_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	ENSG00000154928		0.517	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	84	0.00	0	C	NM_004441		134911476	134911476	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	silent	82	25.45	28	SNP	0.041	T
FADS2	9415	genome.wustl.edu	37	11	61630536	61630536	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr11:61630536C>A	ENST00000278840.4	+	8	1605	c.975C>A	c.(973-975)ttC>ttA	p.F325L	FADS2_ENST00000521849.1_Missense_Mutation_p.F325L|FADS2_ENST00000257261.6_Missense_Mutation_p.F303L|FADS2_ENST00000522056.1_Missense_Mutation_p.F294L	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	325					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TCCTCAACTTCATCAGGTGCC	0.587																																						dbGAP											0													162.0	137.0	145.0					11																	61630536		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.975C>A	11.37:g.61630536C>A	ENSP00000278840:p.Phe325Leu		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5	p.F325L	ENST00000278840.4	37	c.975	CCDS8012.1	11	.	.	.	.	.	.	.	.	.	.	C	8.497	0.863291	0.17250	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000278840;ENST00000521849;ENST00000521571;ENST00000355484	T;T;T;T;T;T	0.39406	1.19;1.19;1.19;1.19;1.08;1.19	4.84	0.0645	0.14353	Fatty acid desaturase, type 1 (1);	0.206057	0.33813	N	0.004530	T	0.14056	0.0340	N	0.03930	-0.32	0.41578	D	0.988723	B;B;B;B	0.16802	0.019;0.011;0.0;0.001	B;B;B;B	0.21360	0.034;0.021;0.001;0.003	T	0.07558	-1.0766	10	0.12430	T	0.62	-13.1227	3.7826	0.08686	0.0:0.2955:0.1992:0.5052	.	294;325;325;303	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	L	303;294;325;325;91;91	ENSP00000257261:F303L;ENSP00000429500:F294L;ENSP00000278840:F325L;ENSP00000431091:F325L;ENSP00000443867:F91L;ENSP00000437965:F91L	ENSP00000257261:F303L	F	+	3	2	FADS2	61387112	0.978000	0.34361	0.999000	0.59377	0.965000	0.64279	0.124000	0.15728	0.178000	0.19917	0.561000	0.74099	TTC	FADS2	-	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase	ENSG00000134824		0.587	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS2	HGNC	protein_coding	OTTHUMT00000375586.2	168	0.00	0	C	NM_004265		61630536	61630536	+1	no_errors	ENST00000278840	ensembl	human	known	69_37n	missense	153	10.53	18	SNP	0.998	A
FAM122B	159090	genome.wustl.edu	37	X	133906240	133906240	+	Missense_Mutation	SNP	C	C	T	rs200931503		TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chrX:133906240C>T	ENST00000370790.1	-	9	1601	c.673G>A	c.(673-675)Gca>Aca	p.A225T	FAM122B_ENST00000486347.1_Missense_Mutation_p.A226T|FAM122B_ENST00000343004.5_Missense_Mutation_p.A244T|FAM122B_ENST00000298090.6_Intron|FAM122B_ENST00000493333.1_5'UTR	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	225	Ser-rich.									breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GGAGACTCTGCGGTAGCGCTG	0.438																																						dbGAP											0													109.0	83.0	92.0					X																	133906240		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.673G>A	X.37:g.133906240C>T	ENSP00000359826:p.Ala225Thr		A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Missense_Mutation	SNP	NULL	p.A244T	ENST00000370790.1	37	c.730	CCDS55497.1	X	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.090	-0.664419	0.03428	.	.	ENSG00000156504	ENST00000370790;ENST00000343004;ENST00000486347	.	.	.	5.65	2.5	0.30297	.	0.179668	0.38720	N	0.001590	T	0.07638	0.0192	N	0.00841	-1.15	0.21915	N	0.999473	B;B;B	0.18741	0.03;0.03;0.013	B;B;B	0.15052	0.012;0.007;0.003	T	0.40590	-0.9555	9	0.02654	T	1	.	9.002	0.36088	0.0:0.6197:0.0:0.3803	.	226;225;244	Q7Z309-2;Q7Z309;Q7Z309-3	.;F122B_HUMAN;.	T	225;244;226	.	ENSP00000339207:A244T	A	-	1	0	FAM122B	133733906	1.000000	0.71417	0.993000	0.49108	0.925000	0.55904	1.768000	0.38511	0.202000	0.20498	-0.905000	0.02835	GCA	FAM122B	-	NULL	ENSG00000156504		0.438	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	HGNC	protein_coding	OTTHUMT00000058382.1	65	0.00	0	C	NM_145284		133906240	133906240	-1	no_errors	ENST00000343004	ensembl	human	known	69_37n	missense	108	12.90	16	SNP	0.986	T
FAM179A	165186	genome.wustl.edu	37	2	29240092	29240092	+	Missense_Mutation	SNP	C	C	T	rs200945881	byFrequency	TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr2:29240092C>T	ENST00000379558.4	+	9	1468	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Missense_Mutation_p.R373W	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	373										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGCTGCTTCGGAGGCTGGA	0.577													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15239	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													80.0	85.0	83.0					2																	29240092		2005	4183	6188	-	-	-	SO:0001583	missense	0			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1117C>T	2.37:g.29240092C>T	ENSP00000368876:p.Arg373Trp		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.R373W	ENST00000379558.4	37	c.1117	CCDS1769.2	2	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	10.23	1.293024	0.23564	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.10860	3.02;2.83	4.84	0.733	0.18289	.	.	.	.	.	T	0.04318	0.0119	N	0.17082	0.46	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.12156	0.007;0.005	T	0.36040	-0.9764	9	0.49607	T	0.09	.	6.7634	0.23552	0.0:0.6514:0.1268:0.2218	.	373;373	F8W8E4;Q6ZUX3	.;F179A_HUMAN	W	373	ENSP00000368876:R373W;ENSP00000384699:R373W	ENSP00000368876:R373W	R	+	1	2	FAM179A	29093596	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.339000	0.07832	0.201000	0.20466	-0.751000	0.03497	CGG	FAM179A	-	NULL	ENSG00000189350		0.577	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	36	0.00	0	C	NM_199280		29240092	29240092	+1	no_errors	ENST00000379558	ensembl	human	known	69_37n	missense	69	17.86	15	SNP	0.000	T
AMER3	205147	genome.wustl.edu	37	2	131520463	131520463	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr2:131520463C>T	ENST00000423981.1	+	2	928	c.818C>T	c.(817-819)aCc>aTc	p.T273I	AMER3_ENST00000321420.4_Missense_Mutation_p.T273I	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	273					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GAGAGCCCAACCCAGGCTGCT	0.647																																						dbGAP											0													29.0	34.0	32.0					2																	131520463		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.818C>T	2.37:g.131520463C>T	ENSP00000392700:p.Thr273Ile		B7ZLH6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.T273I	ENST00000423981.1	37	c.818	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	C	6.271	0.418184	0.11870	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.18016	2.24;2.24	5.21	1.11	0.20524	.	0.439653	0.22845	N	0.054936	T	0.08403	0.0209	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.33059	-0.9883	10	0.18710	T	0.47	.	4.1182	0.10092	0.1325:0.5974:0.1294:0.1408	.	273	Q8N944	F123C_HUMAN	I	273	ENSP00000314914:T273I;ENSP00000392700:T273I	ENSP00000314914:T273I	T	+	2	0	FAM123C	131236933	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.597000	0.24059	0.292000	0.22492	0.561000	0.74099	ACC	FAM123C	-	pfam_Uncharacterised_FAM123	ENSG00000178171		0.647	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123C	HGNC	protein_coding	OTTHUMT00000254531.3	24	0.00	0	C	NM_152698		131520463	131520463	+1	no_errors	ENST00000321420	ensembl	human	known	69_37n	missense	26	28.95	11	SNP	0.003	T
FAM222B	55731	genome.wustl.edu	37	17	27086539	27086539	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr17:27086539G>C	ENST00000341217.5	-	3	653	c.438C>G	c.(436-438)caC>caG	p.H146Q	FAM222B_ENST00000452648.3_Missense_Mutation_p.H146Q|FAM222B_ENST00000581407.1_Missense_Mutation_p.H146Q|FAM222B_ENST00000583953.1_3'UTR|FAM222B_ENST00000577682.1_3'UTR|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000582059.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	146																	GGGCCTGGGGGTGGGCTAAAG	0.672																																						dbGAP											0													14.0	16.0	15.0					17																	27086539		1962	4140	6102	-	-	-	SO:0001583	missense	0			AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.438C>G	17.37:g.27086539G>C	ENSP00000343115:p.His146Gln		Q9H6F3|Q9NVJ4|Q9NXN6	Missense_Mutation	SNP	NULL	p.H146Q	ENST00000341217.5	37	c.438	CCDS45637.1	17	.	.	.	.	.	.	.	.	.	.	G	5.937	0.356990	0.11239	.	.	ENSG00000173065	ENST00000341217;ENST00000452648	T;T	0.33216	1.42;1.42	4.73	1.34	0.21922	.	0.109259	0.64402	D	0.000011	T	0.31857	0.0810	L	0.29908	0.895	0.45056	D	0.998072	D	0.69078	0.997	P	0.60949	0.881	T	0.03103	-1.1072	10	0.29301	T	0.29	-6.8431	7.6494	0.28340	0.4047:0.0:0.5953:0.0	.	146	Q8WU58	CQ063_HUMAN	Q	146	ENSP00000343115:H146Q;ENSP00000413645:H146Q	ENSP00000343115:H146Q	H	-	3	2	C17orf63	24110665	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.013000	0.29937	0.536000	0.28733	0.655000	0.94253	CAC	FAM222B	-	NULL	ENSG00000173065		0.672	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM222B	HGNC	protein_coding	OTTHUMT00000446703.1	40	0.00	0	G	NM_018182		27086539	27086539	-1	no_errors	ENST00000341217	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	1.000	C
RP11-383M4.6	0	genome.wustl.edu	37	9	84562587	84562587	+	lincRNA	SNP	A	A	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr9:84562587A>G	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							AACTCATATGATGCATCTGTC	0.448																																						dbGAP											0													20.0	21.0	21.0					9																	84562587		687	1581	2268	-	-	-			0																															9.37:g.84562587A>G				RNA	SNP	-	NULL	ENST00000585776.1	37	NULL		9																																																																																			FAM75D3	-	-	ENSG00000186788		0.448	RP11-383M4.6-001	KNOWN	basic	lincRNA	FAM75D3	HGNC	lincRNA	OTTHUMT00000453562.1	71	0.00	0	A			84562587	84562587	+1	no_errors	ENST00000334208	ensembl	human	known	69_37n	rna	92	11.54	12	SNP	0.000	G
FER	2241	genome.wustl.edu	37	5	108521904	108521904	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr5:108521904G>A	ENST00000281092.4	+	19	2591	c.2207G>A	c.(2206-2208)aGa>aAa	p.R736K	FER_ENST00000438717.2_Missense_Mutation_p.R561K	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	736	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTTCCAGGGAGATACAGTTCA	0.488																																					Colon(146;1051 1799 9836 27344 47401)	dbGAP											0													329.0	310.0	316.0					5																	108521904		2202	4300	6502	-	-	-	SO:0001583	missense	0			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2207G>A	5.37:g.108521904G>A	ENSP00000281092:p.Arg736Lys		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R736K	ENST00000281092.4	37	c.2207	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923257	0.73213	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.81739	-1.53;-1.53	6.02	6.02	0.97574	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.040379	0.85682	D	0.000000	T	0.77890	0.4198	N	0.02412	-0.56	0.58432	D	0.999997	D	0.58970	0.984	D	0.72075	0.976	T	0.80320	-0.1432	10	0.27082	T	0.32	-29.2912	20.5407	0.99260	0.0:0.0:1.0:0.0	.	736	P16591	FER_HUMAN	K	736;561	ENSP00000281092:R736K;ENSP00000394297:R561K	ENSP00000281092:R736K	R	+	2	0	FER	108549803	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.853000	0.86934	2.865000	0.98341	0.655000	0.94253	AGA	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000151422		0.488	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1	182	0.00	0	G	NM_005246		108521904	108521904	+1	no_errors	ENST00000281092	ensembl	human	known	69_37n	missense	130	21.21	35	SNP	1.000	A
FBN2	2201	genome.wustl.edu	37	5	127681110	127681110	+	Silent	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr5:127681110G>A	ENST00000508053.1	-	30	4130	c.3156C>T	c.(3154-3156)tgC>tgT	p.C1052C	FBN2_ENST00000262464.4_Silent_p.C1052C|FBN2_ENST00000508989.1_Silent_p.C1019C			P35556	FBN2_HUMAN	fibrillin 2	1052	TB 5.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCCGCGGGGGCACAGCGTCT	0.617																																						dbGAP											0													85.0	89.0	88.0					5																	127681110		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3156C>T	5.37:g.127681110G>A			B4DU01|Q59ES6	Silent	SNP	pirsf_Fibrillin,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.C1052	ENST00000508053.1	37	c.3156	CCDS34222.1	5																																																																																			FBN2	-	pirsf_Fibrillin,superfamily_TB_dom	ENSG00000138829		0.617	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	43	0.00	0	G	NM_001999		127681110	127681110	-1	no_errors	ENST00000262464	ensembl	human	known	69_37n	silent	35	20.45	9	SNP	1.000	A
FMNL3	91010	genome.wustl.edu	37	12	50044490	50044490	+	Missense_Mutation	SNP	A	A	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr12:50044490A>C	ENST00000293590.5	-	17	2202	c.1969T>G	c.(1969-1971)Tcg>Gcg	p.S657A	FMNL3_ENST00000335154.5_Missense_Mutation_p.S657A|FMNL3_ENST00000550488.1_Missense_Mutation_p.S657A|FMNL3_ENST00000352151.5_Missense_Mutation_p.S606A			Q8IVF7	FMNL3_HUMAN	formin-like 3	657	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCCTCAGCCGAGCGGCCAGCC	0.582																																						dbGAP											0													97.0	95.0	95.0					12																	50044490		2049	4212	6261	-	-	-	SO:0001583	missense	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1969T>G	12.37:g.50044490A>C	ENSP00000293590:p.Ser657Ala		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.S657A	ENST00000293590.5	37	c.1969		12	.	.	.	.	.	.	.	.	.	.	A	11.52	1.661954	0.29515	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.12	3.95	0.45737	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.196713	0.42294	D	0.000723	T	0.58061	0.2096	L	0.53249	1.67	0.36162	D	0.848166	B;B;B	0.25351	0.033;0.057;0.124	B;B;B	0.25506	0.032;0.055;0.061	T	0.59553	-0.7433	10	0.31617	T	0.26	.	8.6435	0.33991	0.5837:0.0:0.0:0.4163	.	606;657;657	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	A	657;657;606;657	ENSP00000335655:S657A;ENSP00000447479:S657A;ENSP00000344311:S606A;ENSP00000293590:S657A	ENSP00000293590:S657A	S	-	1	0	FMNL3	48330757	0.996000	0.38824	1.000000	0.80357	0.968000	0.65278	3.080000	0.50112	1.045000	0.40225	0.528000	0.53228	TCG	FMNL3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000161791		0.582	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		152	0.65	1	A	NM_175736		50044490	50044490	-1	no_errors	ENST00000293590	ensembl	human	known	69_37n	missense	167	16.92	34	SNP	1.000	C
FLJ12825	440101	genome.wustl.edu	37	12	54514529	54514529	+	lincRNA	SNP	G	G	T	rs74745027		TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr12:54514529G>T	ENST00000515617.1	+	0	2453				RP11-834C11.5_ENST00000508763.1_RNA	NR_026655.1																						ttcctcgtgtgtaaattggaa	0.438																																						dbGAP											0																																										-	-	-			0																															12.37:g.54514529G>T				RNA	SNP	-	NULL	ENST00000515617.1	37	NULL		12																																																																																			RP11-834C11.3	-	-	ENSG00000248265		0.438	RP11-834C11.3-001	KNOWN	basic	lincRNA	FLJ12825	Clone_based_vega_gene	lincRNA	OTTHUMT00000358961.1	8	0.00	0	G			54514529	54514529	+1	no_errors	ENST00000515617	ensembl	human	known	69_37n	rna	7	41.67	5	SNP	0.002	T
GRIA3	2892	genome.wustl.edu	37	X	122528859	122528859	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chrX:122528859G>A	ENST00000371251.1	+	6	843	c.791G>A	c.(790-792)gGa>gAa	p.G264E	GRIA3_ENST00000542149.1_Missense_Mutation_p.G264E|GRIA3_ENST00000371256.5_Missense_Mutation_p.G264E|GRIA3_ENST00000541091.1_Missense_Mutation_p.G248E|GRIA3_ENST00000264357.5_Missense_Mutation_p.G264E			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	264					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)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.G264E(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ATGCATGGGGGAGCCAACATT	0.428																																						dbGAP											3	Substitution - Missense(3)	lung(3)											115.0	104.0	108.0					X																	122528859		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.791G>A	X.37:g.122528859G>A	ENSP00000360297:p.Gly264Glu		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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.G264E	ENST00000371251.1	37	c.791	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216321	0.39201	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.52	4.66	0.58398	Extracellular ligand-binding receptor (1);	0.096556	0.64402	D	0.000001	D	0.89691	0.6788	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.965;1.0;1.0	D	0.90234	0.4281	10	0.72032	D	0.01	.	12.7222	0.57147	0.0813:0.0:0.9187:0.0	.	248;264;264	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	E	264;264;264;264;248	ENSP00000264357:G264E;ENSP00000446146:G264E;ENSP00000360302:G264E;ENSP00000360297:G264E;ENSP00000446440:G248E	ENSP00000264357:G264E	G	+	2	0	GRIA3	122356540	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	9.813000	0.99286	1.205000	0.43262	-0.199000	0.12753	GGA	GRIA3	-	pfam_ANF_lig-bd_rcpt	ENSG00000125675		0.428	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	98	0.00	0	G	NM_000828		122528859	122528859	+1	no_errors	ENST00000264357	ensembl	human	known	69_37n	missense	97	14.91	17	SNP	1.000	A
HHATL	57467	genome.wustl.edu	37	3	42739047	42739047	+	Missense_Mutation	SNP	A	A	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:42739047A>T	ENST00000441594.1	-	7	1079	c.818T>A	c.(817-819)aTc>aAc	p.I273N	HHATL_ENST00000310417.5_Missense_Mutation_p.I273N	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	273					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GTCGCTGGGGATAGTGAGGAT	0.612																																						dbGAP											0													126.0	120.0	122.0					3																	42739047		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.818T>A	3.37:g.42739047A>T	ENSP00000405423:p.Ile273Asn		Q8TBG3|Q9ULP7	Missense_Mutation	SNP	pfam_MBOAT_fam	p.I273N	ENST00000441594.1	37	c.818	CCDS2704.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	14.84|14.84	2.656851|2.656851	0.47467|0.47467	.|.	.|.	ENSG00000010282|ENSG00000010282	ENST00000310417;ENST00000441594;ENST00000457462|ENST00000341477	D;D;D|.	0.88431|.	-2.38;-2.38;-2.38|.	4.83|4.83	3.65|3.65	0.41850|0.41850	.|.	0.146897|.	0.64402|.	D|.	0.000013|.	T|T	0.71945|0.71945	0.3400|0.3400	M|M	0.80616|0.80616	2.505|2.505	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.52316|.	0.952|.	P|.	0.57846|.	0.828|.	T|T	0.69617|0.69617	-0.5097|-0.5097	10|6	0.87932|0.30078	D|T	0|0.28	-24.6197|-24.6197	11.457|11.457	0.50187|0.50187	0.8487:0.1513:0.0:0.0|0.8487:0.1513:0.0:0.0	.|.	273|.	Q9HCP6|.	HHATL_HUMAN|.	N|T	273;273;208|181	ENSP00000310621:I273N;ENSP00000405423:I273N;ENSP00000403787:I208N|.	ENSP00000310621:I273N|ENSP00000341177:S181T	I|S	-|-	2|1	0|0	HHATL|HHATL	42714051|42714051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.001000|0.001000	0.01503|0.01503	8.774000|8.774000	0.91767|0.91767	0.866000|0.866000	0.35629|0.35629	-0.483000|-0.483000	0.04790|0.04790	ATC|TCC	HHATL	-	pfam_MBOAT_fam	ENSG00000010282		0.612	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HHATL	HGNC	protein_coding	OTTHUMT00000343627.1	98	0.00	0	A	NM_020707		42739047	42739047	-1	no_errors	ENST00000310417	ensembl	human	known	69_37n	missense	61	15.07	11	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	185902681	185902681	+	Splice_Site	SNP	A	A	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr1:185902681A>T	ENST00000271588.4	+	11	1782	c.1553A>T	c.(1552-1554)gAg>gTg	p.E518V	HMCN1_ENST00000367492.2_Splice_Site_p.E518V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	518					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTCACACAGAGCCCCCTCCG	0.403																																						dbGAP											0													69.0	67.0	68.0					1																	185902681		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1553-1A>T	1.37:g.185902681A>T			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.E518V	ENST00000271588.4	37	c.1553	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.706707	0.68615	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.26373	1.74;1.74	5.68	5.68	0.88126	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.64404	1.975	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.40040	-0.9584	9	.	.	.	.	15.933	0.79679	1.0:0.0:0.0:0.0	.	518	Q96RW7	HMCN1_HUMAN	V	518	ENSP00000271588:E518V;ENSP00000356462:E518V	.	E	+	2	0	HMCN1	184169304	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	8.560000	0.90712	2.155000	0.67459	0.460000	0.39030	GAG	HMCN1	-	NULL	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	113	0.00	0	A	NM_031935	Missense_Mutation	185902681	185902681	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	149	13.29	23	SNP	1.000	T
HOXC4	3221	genome.wustl.edu	37	12	54448714	54448714	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr12:54448714G>C	ENST00000430889.2	+	2	566	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	HOXC4_ENST00000303406.4_Missense_Mutation_p.E174Q|HOXC4_ENST00000609810.1_Missense_Mutation_p.E174Q	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	174					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						ATTAGAGAAAGAGTTTCATTA	0.537																																						dbGAP											0													48.0	47.0	47.0					12																	54448714		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.520G>C	12.37:g.54448714G>C	ENSP00000399808:p.Glu174Gln			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.E174Q	ENST00000430889.2	37	c.520	CCDS8873.1	12	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550868	0.65311	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.96491	-4.03;-4.03	3.85	3.85	0.44370	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99466	1.0944	10	0.87932	D	0	.	15.0798	0.72106	0.0:0.0:1.0:0.0	.	174	P09017	HXC4_HUMAN	Q	174	ENSP00000305973:E174Q;ENSP00000399808:E174Q	ENSP00000305973:E174Q	E	+	1	0	HOXC4	52734981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.548000	0.98103	2.139000	0.66308	0.448000	0.29417	GAG	HOXC4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000198353		0.537	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC4	HGNC	protein_coding	OTTHUMT00000358963.1	30	0.00	0	G			54448714	54448714	+1	no_errors	ENST00000303406	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	1.000	C
IFNA5	3442	genome.wustl.edu	37	9	21304986	21304986	+	Silent	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr9:21304986G>C	ENST00000259555.4	-	1	326	c.270C>G	c.(268-270)ctC>ctG	p.L90L		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	90					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTGTGCTGAAGAGATTGAAGG	0.463																																						dbGAP											0													121.0	112.0	115.0					9																	21304986		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"""Interferons"""	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.270C>G	9.37:g.21304986G>C			Q52LX3	Silent	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L90	ENST00000259555.4	37	c.270	CCDS6502.1	9																																																																																			IFNA5	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	ENSG00000147873		0.463	IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA5	HGNC	protein_coding	OTTHUMT00000051893.1	197	0.00	0	G	NM_002169		21304986	21304986	-1	no_errors	ENST00000259555	ensembl	human	known	69_37n	silent	132	12.50	19	SNP	0.631	C
IMPG2	50939	genome.wustl.edu	37	3	100962731	100962731	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:100962731G>C	ENST00000193391.7	-	13	2631	c.2444C>G	c.(2443-2445)tCt>tGt	p.S815C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	815					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CAATTTGGTAGACTGTGTCAC	0.453																																						dbGAP											0													97.0	98.0	97.0					3																	100962731		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2444C>G	3.37:g.100962731G>C	ENSP00000193391:p.Ser815Cys		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S815C	ENST00000193391.7	37	c.2444	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337131	0.60963	.	.	ENSG00000081148	ENST00000193391	T	0.20738	2.05	5.55	5.55	0.83447	.	0.453514	0.22892	N	0.054373	T	0.32315	0.0825	L	0.29908	0.895	0.39357	D	0.965851	D;D	0.71674	0.998;0.998	P;P	0.60789	0.879;0.879	T	0.03364	-1.1044	10	0.51188	T	0.08	-5.6297	16.4055	0.83662	0.0:0.0:1.0:0.0	.	815;815	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	C	815	ENSP00000193391:S815C	ENSP00000193391:S815C	S	-	2	0	IMPG2	102445421	1.000000	0.71417	0.998000	0.56505	0.670000	0.39368	5.650000	0.67944	2.607000	0.88179	0.462000	0.41574	TCT	IMPG2	-	NULL	ENSG00000081148		0.453	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	50	0.00	0	G			100962731	100962731	-1	no_errors	ENST00000193391	ensembl	human	known	69_37n	missense	66	12.00	9	SNP	0.997	C
ITPKC	80271	genome.wustl.edu	37	19	41245449	41245449	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr19:41245449G>C	ENST00000263370.2	+	7	2069	c.2036G>C	c.(2035-2037)gGg>gCg	p.G679A	C19orf54_ENST00000594163.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	679					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTCCTGCAGGGGCTGGCACAG	0.647																																						dbGAP											0													26.0	26.0	26.0					19																	41245449		2202	4300	6502	-	-	-	SO:0001583	missense	0			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.2036G>C	19.37:g.41245449G>C	ENSP00000263370:p.Gly679Ala		Q9UE25|Q9Y475	Missense_Mutation	SNP	pfam_IPK	p.G679A	ENST00000263370.2	37	c.2036	CCDS12563.1	19	.	.	.	.	.	.	.	.	.	.	G	9.657	1.143086	0.21205	.	.	ENSG00000086544	ENST00000263370	T	0.13307	2.6	5.04	4.01	0.46588	.	0.391360	0.27122	N	0.020832	T	0.05181	0.0138	N	0.04508	-0.205	0.35236	D	0.777419	B	0.32829	0.386	B	0.26693	0.072	T	0.35201	-0.9798	10	0.34782	T	0.22	-21.4229	6.8988	0.24271	0.2599:0.0:0.7401:0.0	.	679	Q96DU7	IP3KC_HUMAN	A	679	ENSP00000263370:G679A	ENSP00000263370:G679A	G	+	2	0	ITPKC	45937289	0.994000	0.37717	0.925000	0.36789	0.716000	0.41182	2.392000	0.44433	1.492000	0.48499	0.655000	0.94253	GGG	ITPKC	-	NULL	ENSG00000086544		0.647	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKC	HGNC	protein_coding	OTTHUMT00000463104.1	27	0.00	0	G	NM_025194		41245449	41245449	+1	no_errors	ENST00000263370	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	0.906	C
JMJD1C	221037	genome.wustl.edu	37	10	64967194	64967194	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr10:64967194C>A	ENST00000399262.2	-	10	4453	c.4235G>T	c.(4234-4236)gGt>gTt	p.G1412V	JMJD1C_ENST00000542921.1_Missense_Mutation_p.G1230V|JMJD1C_ENST00000402544.1_Missense_Mutation_p.G1193V|JMJD1C_ENST00000399251.1_Missense_Mutation_p.G1193V	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1412					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTCTGAACCACCCCAGCTGGA	0.413																																						dbGAP											0													124.0	123.0	123.0					10																	64967194		1937	4127	6064	-	-	-	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4235G>T	10.37:g.64967194C>A	ENSP00000382204:p.Gly1412Val		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G1412V	ENST00000399262.2	37	c.4235	CCDS41532.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.073|7.073	0.568635|0.568635	0.13560|0.13560	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921|ENST00000327520	T;T;T;T|.	0.53206|.	0.99;0.63;2.45;0.99|.	5.72|5.72	1.46|1.46	0.22682|0.22682	.|.	0.800590|.	0.12101|.	N|.	0.499488|.	T|T	0.37320|0.37320	0.0999|0.0999	N|N	0.15975|0.15975	0.35|0.35	0.42793|0.42793	D|D	0.993906|0.993906	B;B;B|.	0.11235|.	0.002;0.002;0.004|.	B;B;B|.	0.11329|.	0.001;0.002;0.006|.	T|T	0.07328|0.07328	-1.0778|-1.0778	10|5	0.46703|.	T|.	0.11|.	-2.086|-2.086	10.9956|10.9956	0.47573|0.47573	0.2312:0.5204:0.2484:0.0|0.2312:0.5204:0.2484:0.0	.|.	953;1412;1230|.	A6PW35;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	V|L	1412;1193;1193;1230|98	ENSP00000382204:G1412V;ENSP00000384990:G1193V;ENSP00000382195:G1193V;ENSP00000444682:G1230V|.	ENSP00000382195:G1193V|.	G|V	-|-	2|1	0|0	JMJD1C|JMJD1C	64637200|64637200	0.004000|0.004000	0.15560|0.15560	0.995000|0.995000	0.50966|0.50966	0.984000|0.984000	0.73092|0.73092	0.065000|0.065000	0.14466|0.14466	0.287000|0.287000	0.22375|0.22375	0.591000|0.591000	0.81541|0.81541	GGT|GTG	JMJD1C	-	NULL	ENSG00000171988		0.413	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	64	0.00	0	C	NM_004241		64967194	64967194	-1	no_errors	ENST00000399262	ensembl	human	known	69_37n	missense	57	32.94	28	SNP	0.761	A
KAT6B	23522	genome.wustl.edu	37	10	76735226	76735226	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr10:76735226G>C	ENST00000287239.4	+	8	1620	c.1131G>C	c.(1129-1131)aaG>aaC	p.K377N	KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Missense_Mutation_p.K377N|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	377	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGGGTCAAAAGACTAAAGTCT	0.498																																						dbGAP											0													98.0	92.0	94.0					10																	76735226		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1131G>C	10.37:g.76735226G>C	ENSP00000287239:p.Lys377Asn		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K377N	ENST00000287239.4	37	c.1131	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796657	0.31777	.	.	ENSG00000156650	ENST00000287239;ENST00000372711	T;T	0.78816	-1.21;-1.19	5.99	5.99	0.97316	.	0.000000	0.52532	D	0.000071	T	0.79673	0.4486	N	0.17474	0.49	0.35897	D	0.830107	D;D	0.76494	0.999;0.999	D;D	0.68943	0.961;0.915	T	0.80752	-0.1242	9	.	.	.	-13.9021	18.6293	0.91354	0.0:0.0:1.0:0.0	.	377;377	Q8WYB5-2;Q8WYB5	.;KAT6B_HUMAN	N	377	ENSP00000287239:K377N;ENSP00000361796:K377N	.	K	+	3	2	KAT6B	76405232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.219000	0.78000	2.843000	0.97960	0.655000	0.94253	AAG	KAT6B	-	NULL	ENSG00000156650		0.498	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	82	0.00	0	G	NM_012330		76735226	76735226	+1	no_errors	ENST00000287239	ensembl	human	known	69_37n	missense	99	13.91	16	SNP	1.000	C
KATNAL1	84056	genome.wustl.edu	37	13	30782679	30782679	+	Nonstop_Mutation	SNP	A	A	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr13:30782679A>C	ENST00000380615.3	-	11	1638	c.1471T>G	c.(1471-1473)Tga>Gga	p.*491G	KATNAL1_ENST00000380617.3_Nonstop_Mutation_p.*491G|AL356750.1_ENST00000579551.1_RNA	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		ACAGAAATTCAAGCAGATCCA	0.333																																						dbGAP											0													71.0	74.0	73.0					13																	30782679		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.1471T>G	13.37:g.30782679A>C	ENSP00000369989:p.*491Argext*23			Nonstop_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase	p.*491G	ENST00000380615.3	37	c.1471	CCDS31956.1	13	.	.	.	.	.	.	.	.	.	.	A	19.37	3.813806	0.70912	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5932	0.84781	1.0:0.0:0.0:0.0	.	.	.	.	G	491	.	.	X	-	1	0	KATNAL1	29680679	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.195000	0.94971	2.320000	0.78422	0.528000	0.53228	TGA	KATNAL1	-	NULL	ENSG00000102781		0.333	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KATNAL1	HGNC	protein_coding	OTTHUMT00000044346.2	58	0.00	0	A	NM_032116		30782679	30782679	-1	no_errors	ENST00000380615	ensembl	human	known	69_37n	nonstop	44	18.52	10	SNP	1.000	C
CEP170B	283638	genome.wustl.edu	37	14	105359435	105359435	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr14:105359435C>T	ENST00000414716.3	+	14	4229	c.4001C>T	c.(4000-4002)cCc>cTc	p.P1334L	CEP170B_ENST00000418279.1_Missense_Mutation_p.P1264L|CEP170B_ENST00000453495.1_Missense_Mutation_p.P1370L|CEP170B_ENST00000556508.1_Missense_Mutation_p.P1299L	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1369						cytoplasm (GO:0005737)|microtubule (GO:0005874)											AGCAACATGCCCAGCACCCCC	0.682																																						dbGAP											0													16.0	26.0	23.0					14																	105359435		2089	4203	6292	-	-	-	SO:0001583	missense	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4001C>T	14.37:g.105359435C>T	ENSP00000404151:p.Pro1334Leu		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.P1370L	ENST00000414716.3	37	c.4109	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090292	0.76756	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	T;T;T;T	0.49432	0.79;0.8;0.78;0.82	4.45	4.45	0.53987	.	0.161469	0.43919	D	0.000509	T	0.55289	0.1911	M	0.67953	2.075	0.58432	D	0.999999	P;P;P	0.45827	0.867;0.546;0.585	P;B;B	0.46629	0.522;0.136;0.319	T	0.64158	-0.6473	10	0.72032	D	0.01	-19.8935	17.1286	0.86721	0.0:1.0:0.0:0.0	.	1334;1369;1264	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	L	1299;1334;1370;1264;2	ENSP00000451249:P1299L;ENSP00000404151:P1334L;ENSP00000407238:P1370L;ENSP00000415006:P1264L	ENSP00000404151:P1334L	P	+	2	0	KIAA0284	104430480	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.742000	0.68646	2.033000	0.60031	0.423000	0.28283	CCC	KIAA0284	-	NULL	ENSG00000099814		0.682	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0284	HGNC	protein_coding	OTTHUMT00000410289.2	18	0.00	0	C	NM_001112726		105359435	105359435	+1	no_errors	ENST00000453495	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	1.000	T
LIMCH1	22998	genome.wustl.edu	37	4	41615638	41615638	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr4:41615638G>C	ENST00000313860.7	+	7	696	c.642G>C	c.(640-642)caG>caC	p.Q214H	LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q214H|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q55H|LIMCH1_ENST00000509454.1_Missense_Mutation_p.Q62H|LIMCH1_ENST00000512632.1_Missense_Mutation_p.Q214H|LIMCH1_ENST00000509638.1_Missense_Mutation_p.Q55H|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q55H|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q60H|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q55H|LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q67H|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q60H|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q60H|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q214H|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q214H	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	214					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GCTCTCGGCAGACGCCTTCAC	0.532																																						dbGAP											0													82.0	75.0	78.0					4																	41615638		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.642G>C	4.37:g.41615638G>C	ENSP00000316891:p.Gln214His		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q55H	ENST00000313860.7	37	c.165	CCDS33977.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.17|19.17	3.775164|3.775164	0.70107|0.70107	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000509638;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000446625;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000509454;ENST00000396595;ENST00000381753|ENST00000508466	T;T;T;T;T;T;T;T;T;T;T;T|.	0.50813|.	0.73;1.35;1.35;1.35;0.78;1.36;0.75;0.75;0.73;0.73;0.75;0.74|.	5.85|5.85	5.0|5.0	0.66597|0.66597	.|.	0.112616|.	0.64402|.	D|.	0.000006|.	T|T	0.51736|0.51736	0.1692|0.1692	N|N	0.25144|0.25144	0.715|0.715	0.50313|0.50313	D|D	0.999869|0.999869	B;B;P;P;B;D;P;D;D;D;D|.	0.89917|.	0.23;0.264;0.537;0.537;0.004;1.0;0.729;0.999;0.997;0.998;0.995|.	B;B;B;B;B;D;P;D;D;D;D|.	0.91635|.	0.118;0.109;0.437;0.437;0.011;0.999;0.639;0.997;0.992;0.996;0.989|.	T|T	0.47736|0.47736	-0.9094|-0.9094	10|5	0.45353|.	T|.	0.12|.	-19.463|-19.463	14.8316|14.8316	0.70153|0.70153	0.0689:0.0:0.9311:0.0|0.0689:0.0:0.9311:0.0	.|.	60;214;60;60;62;55;55;214;214;214;214|.	E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;Q6NVB9;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	H|T	55;55;214;214;214;214;214;55;55;55;54;67;60;62;60;60|49	ENSP00000425222:Q55H;ENSP00000424825:Q214H;ENSP00000424645:Q214H;ENSP00000316891:Q214H;ENSP00000427045:Q214H;ENSP00000424437:Q214H;ENSP00000425631:Q55H;ENSP00000421242:Q55H;ENSP00000426334:Q67H;ENSP00000422864:Q60H;ENSP00000379840:Q60H;ENSP00000371172:Q60H|.	ENSP00000316891:Q214H|.	Q|R	+|+	3|2	2|0	LIMCH1|LIMCH1	41310395|41310395	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	3.629000|3.629000	0.54266|0.54266	1.455000|1.455000	0.47813|0.47813	0.655000|0.655000	0.94253|0.94253	CAG|AGA	LIMCH1	-	NULL	ENSG00000064042		0.532	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	61	0.00	0	G	NM_014988		41615638	41615638	+1	no_errors	ENST00000503057	ensembl	human	known	69_37n	missense	48	12.73	7	SNP	1.000	C
LPCAT2	54947	genome.wustl.edu	37	16	55579724	55579724	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr16:55579724G>T	ENST00000262134.5	+	9	1114	c.930G>T	c.(928-930)atG>atT	p.M310I		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	310					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GGAATTTAATGGCAGAGTAAG	0.303																																						dbGAP											0													87.0	87.0	87.0					16																	55579724		2198	4299	6497	-	-	-	SO:0001583	missense	0			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.930G>T	16.37:g.55579724G>T	ENSP00000262134:p.Met310Ile		A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	pfam_EF-hand,pfam_Acyltransferase,smart_Acyltransferase,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2	p.M310I	ENST00000262134.5	37	c.930	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632679	0.87660	.	.	ENSG00000087253	ENST00000262134	D	0.90324	-2.65	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.92603	0.7650	M	0.83384	2.64	0.80722	D	1	P	0.49961	0.93	P	0.45881	0.496	D	0.90550	0.4508	10	0.22706	T	0.39	-52.6035	20.1358	0.98028	0.0:0.0:1.0:0.0	.	310	Q7L5N7	PCAT2_HUMAN	I	310	ENSP00000262134:M310I	ENSP00000262134:M310I	M	+	3	0	LPCAT2	54137225	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.225000	0.89784	2.865000	0.98341	0.655000	0.94253	ATG	LPCAT2	-	NULL	ENSG00000087253		0.303	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	HGNC	protein_coding	OTTHUMT00000256977.2	108	0.00	0	G	NM_017839		55579724	55579724	+1	no_errors	ENST00000262134	ensembl	human	known	69_37n	missense	64	35.35	35	SNP	1.000	T
LRP8	7804	genome.wustl.edu	37	1	53736931	53736931	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr1:53736931C>G	ENST00000306052.6	-	7	1195	c.1094G>C	c.(1093-1095)gGc>gCc	p.G365A	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.G365A|RP4-784A16.1_ENST00000432653.1_RNA|LRP8_ENST00000347547.2_Missense_Mutation_p.G195A|LRP8_ENST00000354412.3_Missense_Mutation_p.G236A	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	365	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GAGCTGGAAGCCTGCTGGGCA	0.592																																						dbGAP											0													97.0	87.0	90.0					1																	53736931		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1094G>C	1.37:g.53736931C>G	ENSP00000303634:p.Gly365Ala		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G365A	ENST00000306052.6	37	c.1094	CCDS578.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.028102|3.028102	0.54790|0.54790	.|.	.|.	ENSG00000157193|ENSG00000157193	ENST00000475501|ENST00000306052;ENST00000371454;ENST00000354412;ENST00000347547	.|D;D;D;T	.|0.98249	.|-4.82;-4.82;-4.82;0.48	5.38|5.38	4.46|4.46	0.54185|0.54185	.|Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.|.	.|.	.|.	.|.	D|D	0.99318|0.99318	0.9761|0.9761	H|H	0.97186|0.97186	3.955|3.955	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.998;0.999;0.969;1.0	D|D	0.98626|0.98626	1.0669|1.0669	5|9	.|0.87932	.|D	.|0	.|.	15.7029|15.7029	0.77555|0.77555	0.1377:0.8623:0.0:0.0|0.1377:0.8623:0.0:0.0	.|.	.|236;195;365;365	.|Q14114-2;Q14114-4;Q14114-3;Q14114	.|.;.;.;LRP8_HUMAN	P|A	54|365;365;236;195	.|ENSP00000303634:G365A;ENSP00000360509:G365A;ENSP00000346391:G236A;ENSP00000334522:G195A	.|ENSP00000303634:G365A	A|G	-|-	1|2	0|0	LRP8|LRP8	53509519|53509519	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.174000|0.174000	0.22865|0.22865	7.609000|7.609000	0.82925|0.82925	1.488000|1.488000	0.48433|0.48433	-0.169000|-0.169000	0.13324|0.13324	GCT|GGC	LRP8	-	superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000157193		0.592	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	HGNC	protein_coding	OTTHUMT00000024699.1	79	0.00	0	C	NM_004631		53736931	53736931	-1	no_errors	ENST00000306052	ensembl	human	known	69_37n	missense	60	14.29	10	SNP	1.000	G
MACC1	346389	genome.wustl.edu	37	7	20199064	20199064	+	Missense_Mutation	SNP	T	T	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr7:20199064T>G	ENST00000400331.5	-	5	1228	c.920A>C	c.(919-921)gAa>gCa	p.E307A	MACC1_ENST00000332878.4_Missense_Mutation_p.E307A|MACC1_ENST00000589011.1_Missense_Mutation_p.E307A	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	307					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACACACCATTTCTGTCATGAC	0.403																																						dbGAP											0													59.0	57.0	58.0					7																	20199064		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.920A>C	7.37:g.20199064T>G	ENSP00000383185:p.Glu307Ala		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_DEATH-like	p.E307A	ENST00000400331.5	37	c.920	CCDS5369.1	7	.	.	.	.	.	.	.	.	.	.	T	2.679	-0.275821	0.05679	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.10288	2.89;2.89	5.47	2.97	0.34412	.	0.497561	0.23912	N	0.043330	T	0.09423	0.0232	L	0.58101	1.795	0.23720	N	0.99702	B	0.30406	0.278	B	0.25140	0.058	T	0.23368	-1.0190	10	0.12103	T	0.63	-14.8787	9.435	0.38632	0.1185:0.0:0.1231:0.7584	.	307	Q6ZN28	MACC1_HUMAN	A	307	ENSP00000383185:E307A;ENSP00000328410:E307A	ENSP00000328410:E307A	E	-	2	0	MACC1	20165589	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	2.992000	0.49417	2.078000	0.62432	0.477000	0.44152	GAA	MACC1	-	NULL	ENSG00000183742		0.403	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5	65	0.00	0	T	NM_182762		20199064	20199064	-1	no_errors	ENST00000332878	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	0.740	G
METAP1D	254042	genome.wustl.edu	37	2	172945134	172945134	+	Nonstop_Mutation	SNP	A	A	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr2:172945134A>T	ENST00000315796.4	+	10	1395	c.1008A>T	c.(1006-1008)tgA>tgT	p.*336C	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	0					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						ATGAGGCCTGAGGAGCCGCCC	0.552																																						dbGAP											0													59.0	64.0	62.0					2																	172945134		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.1008A>T	2.37:g.172945134A>T	ENSP00000315152:p.*336Cysext*8		Q1WNX3	Nonstop_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.*336C	ENST00000315796.4	37	c.1008	CCDS2246.1	2	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236986	0.58886	.	.	ENSG00000172878	ENST00000315796	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6877	0.62526	1.0:0.0:0.0:0.0	.	.	.	.	C	336	.	.	X	+	3	0	METAP1D	172653380	1.000000	0.71417	0.995000	0.50966	0.711000	0.40976	3.871000	0.56077	2.169000	0.68431	0.533000	0.62120	TGA	METAP1D	-	NULL	ENSG00000172878		0.552	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1D	HGNC	protein_coding	OTTHUMT00000255378.2	62	0.00	0	A	NM_199227		172945134	172945134	+1	no_errors	ENST00000315796	ensembl	human	known	69_37n	nonstop	48	26.15	17	SNP	1.000	T
METTL12	751071	genome.wustl.edu	37	11	62433975	62433975	+	Nonsense_Mutation	SNP	G	G	T	rs375107020		TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr11:62433975G>T	ENST00000532971.1	+	3	432	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000524958.1_5'Flank|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000525675.1_5'Flank|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron|RP11-831H9.11_ENST00000528405.1_5'Flank	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	59						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.E59K(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						TGGATACGACGAAGTCCAGGG	0.612																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											59.0	66.0	64.0					11																	62433975		2069	4203	6272	-	-	-	SO:0001587	stop_gained	0			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.175G>T	11.37:g.62433975G>T	ENSP00000431287:p.Glu59*		B7Z4C1	Nonsense_Mutation	SNP	pfam_Methyltransf_11	p.E59*	ENST00000532971.1	37	c.175	CCDS41657.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.099005	0.94197	.	.	ENSG00000214756	ENST00000532971	.	.	.	4.53	3.6	0.41247	.	0.482489	0.15751	U	0.246413	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-18.1241	11.4027	0.49878	0.0:0.3518:0.6482:0.0	.	.	.	.	X	59	.	ENSP00000431287:E59X	E	+	1	0	METTL12	62190551	0.014000	0.17966	0.891000	0.34965	0.787000	0.44495	0.408000	0.21065	1.234000	0.43709	0.591000	0.81541	GAA	METTL12	-	NULL	ENSG00000214756		0.612	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL12	HGNC	protein_coding	OTTHUMT00000394990.1	33	0.00	0	G	NM_001043229		62433975	62433975	+1	no_errors	ENST00000532971	ensembl	human	known	69_37n	nonsense	54	11.48	7	SNP	0.609	T
FAM89A	375061	genome.wustl.edu	37	1	231155585	231155585	+	3'UTR	SNP	C	C	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr1:231155585C>A	ENST00000366654.4	-	0	613				MIR1182_ENST00000408363.1_RNA|FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A											endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGCTTCCCAACAGTCACATCC	0.587																																						dbGAP											0													42.0	40.0	40.0					1																	231155585		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC009447	CCDS1590.1	1q42.2	2008-02-05	2005-09-13	2005-09-13	ENSG00000182118	ENSG00000182118			25057	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 153"""	C1orf153		12477932	Standard	NM_198552		Approved	MGC15887	uc001hui.2	Q96GI7	OTTHUMG00000037960	ENST00000366654.4:c.*24G>T	1.37:g.231155585C>A				RNA	SNP	-	NULL	ENST00000366654.4	37	NULL	CCDS1590.1	1																																																																																			MIR1182	-	-	ENSG00000221290		0.587	FAM89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR1182	HGNC	protein_coding	OTTHUMT00000092652.1	47	0.00	0	C	NM_198552		231155585	231155585	-1	no_errors	ENST00000408363	ensembl	human	known	69_37n	rna	42	16.00	8	SNP	0.000	A
MRVI1	10335	genome.wustl.edu	37	11	10626073	10626073	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr11:10626073G>C	ENST00000436272.1	-	12	1619	c.1541C>G	c.(1540-1542)tCc>tGc	p.S514C	MRVI1_ENST00000424001.1_Missense_Mutation_p.S226C|MRVI1_ENST00000547195.1_Missense_Mutation_p.S450C|MRVI1_ENST00000531107.1_Missense_Mutation_p.S533C|MRVI1_ENST00000552103.1_Missense_Mutation_p.S450C|MRVI1_ENST00000534266.2_Missense_Mutation_p.S226C|MRVI1_ENST00000541483.1_Missense_Mutation_p.S335C|MRVI1_ENST00000421747.1_Missense_Mutation_p.S532C|MRVI1_ENST00000558540.1_Missense_Mutation_p.S226C|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.S541C|MRVI1_ENST00000527509.2_Missense_Mutation_p.S450C|MRVI1_ENST00000545852.1_Missense_Mutation_p.S226C			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	514	Interaction with ITPR1. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AAAGGCCAAGGACAGTTGCAC	0.502																																						dbGAP											0													175.0	167.0	169.0					11																	10626073		1990	4176	6166	-	-	-	SO:0001583	missense	0			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1541C>G	11.37:g.10626073G>C	ENSP00000412229:p.Ser514Cys		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.S532C	ENST00000436272.1	37	c.1595		11	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505243	0.85282	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.50871	0.1641	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.997	T	0.50808	-0.8784	10	0.62326	D	0.03	-12.0584	19.0062	0.92852	0.0:0.0:1.0:0.0	.	335;514;533;532	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	C	532;515;514;450;450;226;226;541;335;533;450	ENSP00000414598:S532C;ENSP00000412229:S514C;ENSP00000448278:S450C;ENSP00000446764:S450C;ENSP00000441971:S226C;ENSP00000401205:S226C;ENSP00000412130:S541C;ENSP00000437784:S335C;ENSP00000432436:S533C;ENSP00000432067:S450C	ENSP00000307885:S515C	S	-	2	0	MRVI1	10582649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.173000	0.94815	2.553000	0.86117	0.563000	0.77884	TCC	MRVI1	-	pfam_MRVI1	ENSG00000072952		0.502	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding		234	0.00	0	G	NM_001098579		10626073	10626073	-1	no_errors	ENST00000421747	ensembl	human	known	69_37n	missense	242	18.24	54	SNP	1.000	C
MSANTD2	79684	genome.wustl.edu	37	11	124637779	124637779	+	Missense_Mutation	SNP	T	T	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr11:124637779T>G	ENST00000374979.3	-	4	981	c.973A>C	c.(973-975)Aaa>Caa	p.K325Q	RP11-677M14.3_ENST00000532579.1_RNA|RP11-677M14.3_ENST00000504932.2_RNA|MSANTD2_ENST00000526629.1_Missense_Mutation_p.K95Q|MSANTD2_ENST00000524950.1_3'UTR|MSANTD2_ENST00000239614.4_Missense_Mutation_p.K273Q			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	325																	ATATCCTCTTTCCAACGGGTG	0.458																																						dbGAP											0													92.0	97.0	95.0					11																	124637779		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.973A>C	11.37:g.124637779T>G	ENSP00000364118:p.Lys325Gln		B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	NULL	p.K325Q	ENST00000374979.3	37	c.973		11	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284035	0.59867	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	5.63	4.51	0.55191	.	0.056609	0.64402	D	0.000001	T	0.42921	0.1224	N	0.19112	0.55	0.80722	D	1	D;B	0.56521	0.976;0.137	P;B	0.47015	0.534;0.147	T	0.44513	-0.9323	9	0.72032	D	0.01	-6.5304	11.6361	0.51204	0.0:0.0696:0.0:0.9304	.	325;273	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	Q	273;325;95	.	ENSP00000239614:K273Q	K	-	1	0	C11orf61	124142989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.859000	0.62954	1.075000	0.40932	0.482000	0.46254	AAA	MSANTD2	-	NULL	ENSG00000120458		0.458	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	MSANTD2	HGNC	protein_coding	OTTHUMT00000387084.1	66	0.00	0	T	NM_024631		124637779	124637779	-1	no_errors	ENST00000374979	ensembl	human	known	69_37n	missense	62	18.42	14	SNP	1.000	G
MSL3	10943	genome.wustl.edu	37	X	11779630	11779630	+	Missense_Mutation	SNP	T	T	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chrX:11779630T>C	ENST00000312196.4	+	5	499	c.394T>C	c.(394-396)Tcc>Ccc	p.S132P	MSL3_ENST00000398527.2_Missense_Mutation_p.S120P|MSL3_ENST00000380693.3_5'UTR|MSL3_ENST00000337339.2_Missense_Mutation_p.S132P|MSL3_ENST00000361672.2_Intron	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	132					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						ATTAAGCAGTTCCTCTGACTG	0.358																																						dbGAP											0													135.0	135.0	135.0					X																	11779630		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.394T>C	X.37:g.11779630T>C	ENSP00000312244:p.Ser132Pro		A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.S132P	ENST00000312196.4	37	c.394	CCDS14147.1	X	.	.	.	.	.	.	.	.	.	.	T	7.164	0.586331	0.13749	.	.	ENSG00000005302	ENST00000312196;ENST00000337339;ENST00000421368;ENST00000398527	T;T;T;T	0.17528	3.03;3.04;2.27;2.87	4.4	3.19	0.36642	Chromo domain-like (1);	0.806351	0.11578	N	0.550098	T	0.18718	0.0449	L	0.29908	0.895	0.80722	D	1	B;B;B;P	0.38440	0.308;0.232;0.149;0.631	B;B;B;P	0.48114	0.18;0.181;0.088;0.567	T	0.05068	-1.0908	10	0.25751	T	0.34	.	8.1164	0.30946	0.1876:0.0:0.0:0.8124	.	120;73;132;132	B4DUV8;Q8N5Y2-2;Q8N5Y2;A6NHW8	.;.;MS3L1_HUMAN;.	P	132;132;120;120	ENSP00000312244:S132P;ENSP00000338078:S132P;ENSP00000401809:S120P;ENSP00000381538:S120P	ENSP00000312244:S132P	S	+	1	0	MSL3	11689551	1.000000	0.71417	0.858000	0.33744	0.107000	0.19398	3.301000	0.51842	0.468000	0.27243	0.430000	0.28490	TCC	MSL3	-	superfamily_Chromodomain-like	ENSG00000005302		0.358	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL3	HGNC	protein_coding	OTTHUMT00000055757.1	141	0.00	0	T	NM_006800		11779630	11779630	+1	no_errors	ENST00000312196	ensembl	human	known	69_37n	missense	72	19.10	17	SNP	0.998	C
MTSS1	9788	genome.wustl.edu	37	8	125577935	125577935	+	Silent	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr8:125577935G>A	ENST00000518547.1	-	9	1265	c.792C>T	c.(790-792)agC>agT	p.S264S	MTSS1_ENST00000325064.5_Silent_p.S268S|MTSS1_ENST00000378017.3_Silent_p.S264S|MTSS1_ENST00000523587.1_5'Flank|MTSS1_ENST00000395508.2_5'UTR|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Silent_p.S64S|MTSS1_ENST00000524090.1_Silent_p.S154S|MTSS1_ENST00000431961.2_Silent_p.S64S	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	264	Ser-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACATGGTGGTGCTGGGGGAAG	0.522																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	dbGAP											0													101.0	85.0	90.0					8																	125577935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.792C>T	8.37:g.125577935G>A			J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	pfscan_WH2_dom	p.H12Y	ENST00000518547.1	37	c.34	CCDS6353.1	8	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531492	0.27387	.	.	ENSG00000170873	ENST00000519168;ENST00000523179	.	.	.	5.2	2.22	0.28083	.	.	.	.	.	T	0.55337	0.1914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47947	-0.9077	4	.	.	.	-20.6122	7.4527	0.27248	0.4702:0.0:0.5298:0.0	.	.	.	.	Y	12;112	.	.	H	-	1	0	MTSS1	125647116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.701000	0.47094	0.621000	0.30232	0.655000	0.94253	CAC	MTSS1	-	NULL	ENSG00000170873		0.522	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3	78	0.00	0	G	NM_014751		125577935	125577935	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000519168	ensembl	human	novel	69_37n	missense	79	17.71	17	SNP	1.000	A
MUC16	94025	genome.wustl.edu	37	19	9075811	9075811	+	Missense_Mutation	SNP	C	C	G	rs535174239		TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr19:9075811C>G	ENST00000397910.4	-	3	11838	c.11635G>C	c.(11635-11637)Gca>Cca	p.A3879P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3880	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCCAAGGTGCACTTGGGGTT	0.458																																						dbGAP											0													118.0	108.0	111.0					19																	9075811		2013	4183	6196	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11635G>C	19.37:g.9075811C>G	ENSP00000381008:p.Ala3879Pro		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.A3879P	ENST00000397910.4	37	c.11635	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	9.175	1.022167	0.19433	.	.	ENSG00000181143	ENST00000397910	T	0.02863	4.13	1.52	-1.85	0.07784	.	.	.	.	.	T	0.01454	0.0047	N	0.08118	0	.	.	.	B	0.23540	0.087	B	0.15870	0.014	T	0.46034	-0.9220	8	0.87932	D	0	.	2.3407	0.04259	0.0:0.3729:0.3091:0.318	.	3879	B5ME49	.	P	3879	ENSP00000381008:A3879P	ENSP00000381008:A3879P	A	-	1	0	MUC16	8936811	0.000000	0.05858	0.000000	0.03702	0.763000	0.43281	-2.005000	0.01460	-0.413000	0.07507	0.205000	0.17691	GCA	MUC16	-	NULL	ENSG00000181143		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	156	0.00	0	C	NM_024690		9075811	9075811	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	170	19.05	40	SNP	0.000	G
NLGN1	22871	genome.wustl.edu	37	3	173998377	173998377	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:173998377C>A	ENST00000457714.1	+	7	2185	c.1756C>A	c.(1756-1758)Ctc>Atc	p.L586I	NLGN1_ENST00000361589.4_Missense_Mutation_p.L586I|NLGN1_ENST00000401917.3_Missense_Mutation_p.L626I|NLGN1_ENST00000545397.1_Missense_Mutation_p.L586I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	603					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCAACTTTATCTCCATATTGG	0.393																																						dbGAP											0													105.0	101.0	103.0					3																	173998377		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1756C>A	3.37:g.173998377C>A	ENSP00000392500:p.Leu586Ile		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.L626I	ENST00000457714.1	37	c.1876	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273389	0.59649	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.67	5.67	0.87782	.	0.063876	0.64402	D	0.000005	T	0.74023	0.3662	L	0.59967	1.855	0.58432	D	0.999999	P	0.45715	0.865	D	0.63488	0.915	T	0.72766	-0.4194	10	0.54805	T	0.06	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	586	Q8N2Q7-2	.	I	586;586;586;626	ENSP00000392500:L586I;ENSP00000354541:L586I;ENSP00000441108:L586I;ENSP00000385750:L626I	ENSP00000354541:L586I	L	+	1	0	NLGN1	175481071	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.932000	0.63476	2.666000	0.90696	0.655000	0.94253	CTC	NLGN1	-	pfam_CarbesteraseB,prints_Neuroligin	ENSG00000169760		0.393	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	85	0.00	0	C	NM_014932		173998377	173998377	+1	no_errors	ENST00000401917	ensembl	human	known	69_37n	missense	87	10.31	10	SNP	1.000	A
MUC4	4585	genome.wustl.edu	37	3	195505713	195505713	+	Silent	SNP	A	A	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:195505713A>G	ENST00000463781.3	-	2	13197	c.12738T>C	c.(12736-12738)gcT>gcC	p.A4246A	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.A4246A|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1003					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGCTGAGGTAGCACTGCTGA	0.582																																						dbGAP											0													58.0	61.0	60.0					3																	195505713		2119	4202	6321	-	-	-	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12738T>C	3.37:g.195505713A>G			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.A4246	ENST00000463781.3	37	c.12738	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	237	0.00	0	A	NM_018406		195505713	195505713	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	silent	246	30.11	106	SNP	0.000	G
OR4D11	219986	genome.wustl.edu	37	11	59271565	59271565	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr11:59271565G>T	ENST00000313253.1	+	1	517	c.517G>T	c.(517-519)Gtt>Ttt	p.V173F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGACCCAATGTTCTTGACAC	0.517																																						dbGAP											0													268.0	236.0	247.0					11																	59271565		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.517G>T	11.37:g.59271565G>T	ENSP00000320077:p.Val173Phe			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V173F	ENST00000313253.1	37	c.517	CCDS31563.1	11	.	.	.	.	.	.	.	.	.	.	g	14.71	2.615946	0.46631	.	.	ENSG00000176200	ENST00000313253	T	0.00207	8.55	5.44	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.300290	0.23567	N	0.046789	T	0.00384	0.0012	M	0.74389	2.26	0.09310	N	1	P	0.49559	0.925	P	0.60682	0.878	T	0.41360	-0.9513	10	0.87932	D	0	-8.8339	5.437	0.16486	0.3067:0.1382:0.5551:0.0	.	173	Q8NGI4	OR4DB_HUMAN	F	173	ENSP00000320077:V173F	ENSP00000320077:V173F	V	+	1	0	OR4D11	59028141	0.000000	0.05858	0.691000	0.30163	0.977000	0.68977	-0.107000	0.10873	0.666000	0.31087	0.557000	0.71058	GTT	OR4D11	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176200		0.517	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D11	HGNC	protein_coding	OTTHUMT00000394236.1	244	0.81	2	G	NM_001004706		59271565	59271565	+1	no_errors	ENST00000313253	ensembl	human	known	69_37n	missense	205	14.23	34	SNP	0.013	T
OR7C2	26658	genome.wustl.edu	37	19	15052876	15052876	+	Silent	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr19:15052876C>T	ENST00000248072.3	+	1	576	c.576C>T	c.(574-576)acC>acT	p.T192T		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GTTCTGACACCTTCATCAATA	0.433																																						dbGAP											0													212.0	197.0	202.0					19																	15052876		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.576C>T	19.37:g.15052876C>T			O43881|Q6IFP9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T192	ENST00000248072.3	37	c.576	CCDS12320.1	19																																																																																			OR7C2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000127529		0.433	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	HGNC	protein_coding	OTTHUMT00000466281.1	349	0.29	1	C			15052876	15052876	+1	no_errors	ENST00000248072	ensembl	human	known	69_37n	silent	244	18.12	54	SNP	0.000	T
OTOGL	283310	genome.wustl.edu	37	12	80762042	80762042	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr12:80762042G>C	ENST00000547103.1	+	54	6511	c.6505G>C	c.(6505-6507)Gta>Cta	p.V2169L	OTOGL_ENST00000458043.2_Missense_Mutation_p.V2181L|OTOGL_ENST00000546620.1_Missense_Mutation_p.V200L			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2169					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGCAAAAATGTATCCTGCAA	0.378																																						dbGAP											0													144.0	129.0	134.0					12																	80762042		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6505G>C	12.37:g.80762042G>C	ENSP00000447211:p.Val2169Leu		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.V2181L	ENST00000547103.1	37	c.6541		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.69|13.69	2.313322|2.313322	0.40996|0.40996	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182	.|T;T;T;T	.|0.44482	.|2.32;2.33;2.22;0.92	5.47|5.47	2.65|2.65	0.31530|0.31530	.|.	.|0.300620	.|0.30177	.|N	.|0.010236	T|T	0.39886|0.39886	0.1095|0.1095	M|M	0.64997|0.64997	1.995|1.995	0.21878|0.21878	N|N	0.999498|0.999498	.|B	.|0.25007	.|0.116	.|B	.|0.28553	.|0.091	T|T	0.32745|0.32745	-0.9895|-0.9895	5|10	.|0.46703	.|T	.|0.11	.|.	10.221|10.221	0.43196|0.43196	0.2186:0.0:0.7814:0.0|0.2186:0.0:0.7814:0.0	.|.	.|546	.|Q3ZCN5	.|OTOGL_HUMAN	I|L	588|2169;2181;200;198	.|ENSP00000447211:V2169L;ENSP00000400895:V2181L;ENSP00000449094:V200L;ENSP00000449641:V198L	.|ENSP00000400895:V2181L	M|V	+|+	3|1	0|0	OTOGL|OTOGL	79286173|79286173	0.864000|0.864000	0.29904|0.29904	0.976000|0.976000	0.42696|0.42696	0.753000|0.753000	0.42808|0.42808	0.785000|0.785000	0.26830|0.26830	0.260000|0.260000	0.21731|0.21731	-0.224000|-0.224000	0.12420|0.12420	ATG|GTA	OTOGL	-	NULL	ENSG00000165899		0.378	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	170	0.00	0	G	NM_173591		80762042	80762042	+1	no_errors	ENST00000458043	ensembl	human	known	69_37n	missense	164	16.24	32	SNP	0.998	C
P2RX5	5026	genome.wustl.edu	37	17	3593433	3593433	+	Missense_Mutation	SNP	A	A	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr17:3593433A>T	ENST00000225328.5	-	6	943	c.545T>A	c.(544-546)cTg>cAg	p.L182Q	P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000547178.1_Missense_Mutation_p.L182Q|P2RX5_ENST00000345901.3_Missense_Mutation_p.L158Q|P2RX5_ENST00000552276.1_Missense_Mutation_p.L182Q|P2RX5_ENST00000435558.1_Missense_Mutation_p.L182Q|P2RX5_ENST00000551178.1_Missense_Mutation_p.L158Q|P2RX5-TAX1BP3_ENST00000550383.1_Missense_Mutation_p.L182Q|P2RX5_ENST00000552050.1_Missense_Mutation_p.L122Q	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	182					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGCCTCCTTCAGGAATGGCTC	0.587																																						dbGAP											0													150.0	167.0	161.0					17																	3593433		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.545T>A	17.37:g.3593433A>T	ENSP00000225328:p.Leu182Gln		G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor	p.L182Q	ENST00000225328.5	37	c.545	CCDS11034.1	17	.	.	.	.	.	.	.	.	.	.	A	16.61	3.172285	0.57584	.	.	ENSG00000083454	ENST00000435558;ENST00000551178;ENST00000547178;ENST00000225328;ENST00000345901;ENST00000552050	T;T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91;2.91	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.41003	0.1140	M	0.90082	3.085	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.50617	-0.8807	10	0.87932	D	0	-7.4343	14.8013	0.69919	1.0:0.0:0.0:0.0	.	122;158;182;158;182;182	B4DEG2;G5E981;Q93086-1;Q93086-2;Q93086;Q93086-4	.;.;.;.;P2RX5_HUMAN;.	Q	182;158;182;182;158;122	ENSP00000415370:L182Q;ENSP00000447545:L158Q;ENSP00000448355:L182Q;ENSP00000225328:L182Q;ENSP00000342161:L158Q;ENSP00000450006:L122Q	ENSP00000225328:L182Q	L	-	2	0	P2RX5	3540182	1.000000	0.71417	0.220000	0.23810	0.114000	0.19823	7.538000	0.82048	2.147000	0.66899	0.533000	0.62120	CTG	P2RX5	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000083454		0.587	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX5	HGNC	protein_coding	OTTHUMT00000207388.3	124	0.00	0	A	NM_002561, NM_175080, NM_175081		3593433	3593433	-1	no_errors	ENST00000435558	ensembl	human	known	69_37n	missense	83	12.63	12	SNP	0.997	T
PALB2	79728	genome.wustl.edu	37	16	23634375	23634375	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr16:23634375C>G	ENST00000261584.4	-	9	3063	c.2911G>C	c.(2911-2913)Ggc>Cgc	p.G971R	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	971	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTTGTCAGGCCAAGCACAGCT	0.408			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													145.0	131.0	136.0					16																	23634375		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2911G>C	16.37:g.23634375C>G	ENSP00000261584:p.Gly971Arg		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.G971R	ENST00000261584.4	37	c.2911	CCDS32406.1	16	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399978	0.83120	.	.	ENSG00000083093	ENST00000261584	T	0.28454	1.61	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.064324	0.64402	D	0.000008	T	0.57902	0.2085	M	0.77103	2.36	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.60388	-0.7273	10	0.87932	D	0	-12.0381	15.6323	0.76920	0.0:1.0:0.0:0.0	.	971	Q86YC2	PALB2_HUMAN	R	971	ENSP00000261584:G971R	ENSP00000261584:G971R	G	-	1	0	PALB2	23541876	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.318000	0.59190	2.765000	0.95021	0.484000	0.47621	GGC	PALB2	-	superfamily_WD40_repeat_dom	ENSG00000083093		0.408	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	146	0.00	0	C	NM_024675		23634375	23634375	-1	no_errors	ENST00000261584	ensembl	human	known	69_37n	missense	136	12.18	19	SNP	1.000	G
PCDH19	57526	genome.wustl.edu	37	X	99663461	99663461	+	Silent	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chrX:99663461G>A	ENST00000373034.4	-	1	1810	c.135C>T	c.(133-135)gaC>gaT	p.D45D	PCDH19_ENST00000255531.7_Silent_p.D45D|PCDH19_ENST00000420881.2_Silent_p.D45D	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	45	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCTCTCGCGCGTCTTTGGCCA	0.627																																						dbGAP											0													11.0	12.0	12.0					X																	99663461		1996	4123	6119	-	-	-	SO:0001819	synonymous_variant	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.135C>T	X.37:g.99663461G>A			B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D45	ENST00000373034.4	37	c.135	CCDS55462.1	X																																																																																			PCDH19	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165194		0.627	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	19	0.00	0	G	NM_020766		99663461	99663461	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	silent	9	47.06	8	SNP	1.000	A
PDILT	204474	genome.wustl.edu	37	16	20370693	20370693	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr16:20370693G>A	ENST00000302451.4	-	12	1951	c.1703C>T	c.(1702-1704)cCa>cTa	p.P568L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	568					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGGTCCCTTTGGCTTAGCCAC	0.478																																						dbGAP											0													183.0	173.0	176.0					16																	20370693		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1703C>T	16.37:g.20370693G>A	ENSP00000305465:p.Pro568Leu		Q8IVQ5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.P568L	ENST00000302451.4	37	c.1703	CCDS10584.1	16	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274061	0.40194	.	.	ENSG00000169340	ENST00000302451	T	0.03496	3.91	3.77	3.77	0.43336	.	0.489229	0.20707	N	0.087178	T	0.09730	0.0239	L	0.32530	0.975	0.25152	N	0.990411	D	0.89917	1.0	D	0.80764	0.994	T	0.03364	-1.1044	10	0.87932	D	0	.	11.3975	0.49851	0.0:0.0:1.0:0.0	.	568	Q8N807	PDILT_HUMAN	L	568	ENSP00000305465:P568L	ENSP00000305465:P568L	P	-	2	0	PDILT	20278194	0.652000	0.27349	0.232000	0.24009	0.127000	0.20565	1.556000	0.36288	2.406000	0.81754	0.573000	0.79308	CCA	PDILT	-	NULL	ENSG00000169340		0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	113	0.00	0	G	NM_174924		20370693	20370693	-1	no_errors	ENST00000302451	ensembl	human	known	69_37n	missense	91	14.95	16	SNP	0.241	A
PEAK1	79834	genome.wustl.edu	37	15	77471191	77471191	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr15:77471191C>A	ENST00000560626.2	-	4	3553	c.3078G>T	c.(3076-3078)caG>caT	p.Q1026H	PEAK1_ENST00000558305.1_Missense_Mutation_p.Q1026H|PEAK1_ENST00000312493.4_Missense_Mutation_p.Q1026H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1026					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCTCTGAGTCCTGTAGTAATG	0.453																																						dbGAP											0													133.0	122.0	125.0					15																	77471191		1989	4179	6168	-	-	-	SO:0001583	missense	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3078G>T	15.37:g.77471191C>A	ENSP00000452796:p.Gln1026His		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.Q1026H	ENST00000560626.2	37	c.3078	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236462	0.22711	.	.	ENSG00000173517	ENST00000312493	T	0.68903	-0.36	6.02	2.57	0.30868	.	0.414518	0.22827	N	0.055156	T	0.45458	0.1343	N	0.08118	0	0.09310	N	1	P	0.38642	0.641	B	0.41723	0.365	T	0.36939	-0.9727	10	0.51188	T	0.08	-0.2684	7.3931	0.26921	0.0:0.6806:0.1344:0.1851	.	1026	Q9H792	PEAK1_HUMAN	H	1026	ENSP00000309230:Q1026H	ENSP00000309230:Q1026H	Q	-	3	2	AC087465.1	75258246	0.000000	0.05858	0.027000	0.17364	0.707000	0.40811	0.101000	0.15251	1.572000	0.49736	0.655000	0.94253	CAG	PEAK1	-	NULL	ENSG00000173517		0.453	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Clone_based_vega_gene	protein_coding	OTTHUMT00000419483.3	153	0.00	0	C			77471191	77471191	-1	no_errors	ENST00000312493	ensembl	human	known	69_37n	missense	163	19.31	39	SNP	0.001	A
PEG3	5178	genome.wustl.edu	37	19	57328017	57328017	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr19:57328017C>T	ENST00000326441.9	-	10	2156	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R474H|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	598					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R598H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ttcacgttcacgttcatgttc	0.458																																						dbGAP											2	Substitution - Missense(2)	ovary(2)											106.0	83.0	91.0					19																	57328017		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1793G>A	19.37:g.57328017C>T	ENSP00000326581:p.Arg598His		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R598H	ENST00000326441.9	37	c.1793	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775804	0.02951	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02863	4.13;4.13	1.08	-0.0769	0.13721	.	.	.	.	.	T	0.02193	0.0068	L	0.50333	1.59	.	.	.	B;B;P	0.40107	0.055;0.291;0.703	B;B;B	0.23150	0.001;0.013;0.044	T	0.41251	-0.9519	8	0.56958	D	0.05	.	3.4582	0.07523	0.0:0.7126:0.0:0.2874	.	474;598;533	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	598	ENSP00000326581:R598H;ENSP00000403051:R598H	ENSP00000326581:R598H	R	-	2	0	ZIM2	62019829	0.000000	0.05858	0.010000	0.14722	0.165000	0.22458	-0.044000	0.12023	0.063000	0.16370	0.525000	0.51046	CGT	PEG3	-	NULL	ENSG00000198300		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	97	0.00	0	C			57328017	57328017	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	missense	81	13.83	13	SNP	0.011	T
PEX5L	51555	genome.wustl.edu	37	3	179592153	179592153	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:179592153C>T	ENST00000467460.1	-	7	1018	c.688G>A	c.(688-690)Gag>Aag	p.E230K	PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000465751.1_Missense_Mutation_p.E206K|PEX5L_ENST00000485199.1_Missense_Mutation_p.E195K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.E38K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E228K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E171K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E122K|PEX5L_ENST00000392649.3_Missense_Mutation_p.E122K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E187K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	230					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GAAGCCGACTCAGAGTTGAGG	0.403																																						dbGAP											0													108.0	105.0	106.0					3																	179592153		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.688G>A	3.37:g.179592153C>T	ENSP00000419975:p.Glu230Lys		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E230K	ENST00000467460.1	37	c.688	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606899	0.66558	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721	D;D;D;D;D;D;D;D;D	0.87809	-2.29;-2.3;-2.27;-2.26;-2.27;-2.27;-2.27;-2.26;-2.28	5.55	5.55	0.83447	.	0.320976	0.33631	N	0.004712	T	0.75867	0.3908	N	0.22421	0.69	0.40127	D	0.976672	B;B;B;B;B;B	0.29301	0.094;0.039;0.01;0.152;0.241;0.156	B;B;B;B;B;B	0.21917	0.016;0.011;0.007;0.037;0.037;0.016	T	0.71794	-0.4485	10	0.12103	T	0.63	-16.2068	12.3912	0.55360	0.0:0.9224:0.0:0.0776	.	171;206;122;228;195;230	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	K	230;228;195;228;122;38;187;118;171;122;206;38	ENSP00000419975:E230K;ENSP00000263962:E228K;ENSP00000418440:E195K;ENSP00000376420:E122K;ENSP00000418665:E38K;ENSP00000420555:E187K;ENSP00000418054:E171K;ENSP00000417270:E122K;ENSP00000419348:E206K	ENSP00000263962:E228K	E	-	1	0	PEX5L	181074847	0.908000	0.30866	0.995000	0.50966	0.964000	0.63967	1.632000	0.37102	2.773000	0.95371	0.650000	0.86243	GAG	PEX5L	-	NULL	ENSG00000114757		0.403	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	124	0.80	1	C	NM_016559		179592153	179592153	-1	no_errors	ENST00000467460	ensembl	human	known	69_37n	missense	200	20.32	51	SNP	0.998	T
PHACTR1	221692	genome.wustl.edu	37	6	13283809	13283809	+	Silent	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr6:13283809G>A	ENST00000379329.1	+	3	377	c.357G>A	c.(355-357)gaG>gaA	p.E119E	RP1-257A7.4_ENST00000606150.1_RNA|RP1-257A7.4_ENST00000399446.2_RNA|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379335.3_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCAGAGGGGAGTGCTGGAGAG	0.652																																						dbGAP											0													53.0	58.0	56.0					6																	13283809		2025	4190	6215	-	-	-	SO:0001819	synonymous_variant	0			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379329.1:c.357G>A	6.37:g.13283809G>A			A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.E119	ENST00000379329.1	37	c.357		6																																																																																			PHACTR1	-	NULL	ENSG00000112137		0.652	PHACTR1-004	KNOWN	basic|appris_candidate	protein_coding	PHACTR1	HGNC	protein_coding	OTTHUMT00000039879.1	39	0.00	0	G	XM_166420		13283809	13283809	+1	no_errors	ENST00000379329	ensembl	human	known	69_37n	silent	33	15.38	6	SNP	0.001	A
PIK3CA	5290	genome.wustl.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	rs397517201		TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	53	Substitution - Missense(53)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)											61.0	61.0	61.0					3																	178936095		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q546R	ENST00000263967.3	37	c.1637	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	62	0.00	0	A			178936095	178936095	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	104	44.97	85	SNP	1.000	G
PPP2R3A	5523	genome.wustl.edu	37	3	135720977	135720977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:135720977C>T	ENST00000264977.3	+	2	1254	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	213					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTTGGTTACTCAGATTTTGGA	0.343																																						dbGAP											0													50.0	56.0	54.0					3																	135720977		2196	4296	6492	-	-	-	SO:0001587	stop_gained	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.637C>T	3.37:g.135720977C>T	ENSP00000264977:p.Gln213*		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Nonsense_Mutation	SNP	pfscan_EF_HAND_2	p.Q213*	ENST00000264977.3	37	c.637	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	C	41	9.000232	0.99031	.	.	ENSG00000073711	ENST00000264977	.	.	.	5.17	5.17	0.71159	.	0.134473	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.6584	0.88184	0.0:1.0:0.0:0.0	.	.	.	.	X	213	.	ENSP00000264977:Q213X	Q	+	1	0	PPP2R3A	137203667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.495000	0.53280	2.375000	0.81037	0.655000	0.94253	CAG	PPP2R3A	-	NULL	ENSG00000073711		0.343	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	45	0.00	0	C	NM_002718		135720977	135720977	+1	no_errors	ENST00000264977	ensembl	human	known	69_37n	nonsense	52	11.86	7	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178951964	178951964	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:178951964G>C	ENST00000263967.3	+	21	3176	c.3019G>C	c.(3019-3021)Ggc>Cgc	p.G1007R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1007	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> R (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G1007R(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCTTGGCTCTGGAAT	0.378		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	8	Substitution - Missense(8)	lung(3)|endometrium(3)|urinary_tract(1)|large_intestine(1)											114.0	103.0	106.0					3																	178951964		1886	4108	5994	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3019G>C	3.37:g.178951964G>C	ENSP00000263967:p.Gly1007Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.G1007R	ENST00000263967.3	37	c.3019	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856328	0.71834	.	.	ENSG00000121879	ENST00000263967	T	0.79749	-1.3	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.112145	0.64402	D	0.000010	D	0.84844	0.5562	L	0.46947	1.48	0.80722	D	1	D	0.62365	0.991	P	0.56398	0.797	D	0.83385	0.0014	10	0.41790	T	0.15	-8.1028	20.0716	0.97726	0.0:0.0:1.0:0.0	.	1007	P42336	PK3CA_HUMAN	R	1007	ENSP00000263967:G1007R	ENSP00000263967:G1007R	G	+	1	0	PIK3CA	180434658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.237000	0.95368	2.741000	0.93983	0.585000	0.79938	GGC	PIK3CA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	115	0.00	0	G			178951964	178951964	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	149	22.40	43	SNP	1.000	C
PRUNE2	158471	genome.wustl.edu	37	9	79322731	79322731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr9:79322731G>A	ENST00000376718.3	-	8	4582	c.4459C>T	c.(4459-4461)Cga>Tga	p.R1487*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.R1128*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1487					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCAAGACTTCGGGGAACTCTG	0.438																																						dbGAP											0													40.0	41.0	40.0					9																	79322731		1568	3582	5150	-	-	-	SO:0001587	stop_gained	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4459C>T	9.37:g.79322731G>A	ENSP00000365908:p.Arg1487*		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.R1128*	ENST00000376718.3	37	c.3382	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.093400|7.093400	0.98059|0.98059	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	T|.	0.54071|.	0.59|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|1.216660	.|0.05996	.|N	.|0.646938	T|.	0.62368|.	0.2422|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33445|.	-0.9868|.	6|.	0.06365|0.22706	T|T	0.9|0.39	0.6036|0.6036	15.1094|15.1094	0.72343|0.72343	0.0:0.1403:0.8597:0.0|0.0:0.1403:0.8597:0.0	.|.	.|.	.|.	.|.	L|X	808|1487;1128;1486	ENSP00000389706:P808L|.	ENSP00000389706:P808L|ENSP00000365908:R1487X	P|R	-|-	2|1	0|2	PRUNE2|PRUNE2	78512551|78512551	1.000000|1.000000	0.71417|0.71417	0.187000|0.187000	0.23214|0.23214	0.011000|0.011000	0.07611|0.07611	3.358000|3.358000	0.52284|0.52284	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	CCG|CGA	PRUNE2	-	NULL	ENSG00000106772		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	43	0.00	0	G	NM_138818		79322731	79322731	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	nonsense	29	25.00	10	SNP	0.629	A
PTPRB	5787	genome.wustl.edu	37	12	70938401	70938401	+	Silent	SNP	C	C	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr12:70938401C>G	ENST00000261266.5	-	20	4805	c.4776G>C	c.(4774-4776)ctG>ctC	p.L1592L	PTPRB_ENST00000550857.1_Silent_p.L1502L|PTPRB_ENST00000538708.1_Silent_p.L1502L|PTPRB_ENST00000550358.1_Silent_p.L1722L|PTPRB_ENST00000334414.6_Silent_p.L1810L|PTPRB_ENST00000451516.2_Silent_p.L1502L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1592					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAATTCCTTCAGGTCCTCAT	0.358																																						dbGAP											0													111.0	108.0	109.0					12																	70938401		1845	4090	5935	-	-	-	SO:0001819	synonymous_variant	0			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4776G>C	12.37:g.70938401C>G			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L1810	ENST00000261266.5	37	c.5430	CCDS44944.1	12																																																																																			PTPRB	-	superfamily_Fibronectin_type3	ENSG00000127329		0.358	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	131	0.00	0	C			70938401	70938401	-1	no_errors	ENST00000334414	ensembl	human	known	69_37n	silent	145	14.20	24	SNP	0.998	G
RAD54L2	23132	genome.wustl.edu	37	3	51664762	51664762	+	Missense_Mutation	SNP	A	A	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:51664762A>C	ENST00000409535.2	+	6	765	c.640A>C	c.(640-642)Att>Ctt	p.I214L	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	214						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CACTCTGCACATTGTGGACAG	0.473																																						dbGAP											0													92.0	78.0	83.0					3																	51664762		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.640A>C	3.37:g.51664762A>C	ENSP00000386520:p.Ile214Leu		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I214L	ENST00000409535.2	37	c.640	CCDS33765.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.56|18.56	3.650596|3.650596	0.67472|0.67472	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535	T|T	0.21543|0.42131	2.0|0.98	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.154899	.|0.56097	.|D	.|0.000034	T|T	0.30448|0.30448	0.0765|0.0765	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	.|P	.|0.39831	.|0.69	.|B	.|0.33454	.|0.164	T|T	0.07539|0.07539	-1.0767|-1.0767	7|10	0.28530|0.21540	T|T	0.3|0.41	-11.7451|-11.7451	15.3408|15.3408	0.74296|0.74296	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|214	.|Q9Y4B4	.|ARIP4_HUMAN	P|L	42|214	ENSP00000410283:H42P|ENSP00000386520:I214L	ENSP00000410283:H42P|ENSP00000386520:I214L	H|I	+|+	2|1	0|0	RAD54L2|RAD54L2	51639802|51639802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	4.798000|4.798000	0.62510|0.62510	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	CAT|ATT	RAD54L2	-	NULL	ENSG00000164080		0.473	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	57	0.00	0	A	NM_015106		51664762	51664762	+1	no_errors	ENST00000409535	ensembl	human	known	69_37n	missense	67	16.25	13	SNP	1.000	C
RNF113A	7737	genome.wustl.edu	37	X	119005194	119005194	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chrX:119005194C>T	ENST00000371442.2	-	1	597	c.383G>A	c.(382-384)cGc>cAc	p.R128H	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	128							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TTGTGCATCGCGCTCTTTCTC	0.527																																						dbGAP											0													265.0	251.0	256.0					X																	119005194		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.383G>A	X.37:g.119005194C>T	ENSP00000360497:p.Arg128His		B2RBR7	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.R128H	ENST00000371442.2	37	c.383	CCDS14589.1	X	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418606	0.42918	.	.	ENSG00000125352	ENST00000371442	T	0.33438	1.41	5.49	2.32	0.28847	.	0.194987	0.39759	N	0.001270	T	0.24890	0.0604	L	0.54323	1.7	0.37858	D	0.929611	B	0.19817	0.039	B	0.09377	0.004	T	0.08932	-1.0698	10	0.35671	T	0.21	-16.6406	7.4643	0.27312	0.0:0.5998:0.0:0.4002	.	128	O15541	R113A_HUMAN	H	128	ENSP00000360497:R128H	ENSP00000360497:R128H	R	-	2	0	RNF113A	118889222	0.998000	0.40836	0.846000	0.33378	0.973000	0.67179	3.129000	0.50500	0.524000	0.28502	0.600000	0.82982	CGC	RNF113A	-	NULL	ENSG00000125352		0.527	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	HGNC	protein_coding	OTTHUMT00000058071.1	124	0.00	0	C	NM_006978		119005194	119005194	-1	no_errors	ENST00000371442	ensembl	human	known	69_37n	missense	96	13.39	15	SNP	0.901	T
RNF217	154214	genome.wustl.edu	37	6	125379112	125379112	+	Missense_Mutation	SNP	G	G	T	rs475076	byFrequency	TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr6:125379112G>T	ENST00000521654.2	+	3	1141	c.1141G>T	c.(1141-1143)Gtc>Ttc	p.V381F	RNF217_ENST00000275184.6_Missense_Mutation_p.V25F|RNF217_ENST00000560949.1_Missense_Mutation_p.V146F|RNF217_ENST00000359704.2_Missense_Mutation_p.V89F|RNF217_ENST00000368414.2_5'UTR			Q8TC41	RN217_HUMAN	ring finger protein 217	381			V -> I (in dbSNP:rs475076).		protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CTGCCAATTCGTCTGGTGTTT	0.408																																						dbGAP											0													132.0	128.0	129.0					6																	125379112		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"""RING-type (C3HC4) zinc fingers"""	21487	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 172"", ""IBR domain containing 1"""	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1141G>T	6.37:g.125379112G>T	ENSP00000428698:p.Val381Phe		H7C5V4|Q5TCA4|Q9BX48	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_C6HC	p.V146F	ENST00000521654.2	37	c.436		6	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829443	0.50845	.	.	ENSG00000146373	ENST00000521654;ENST00000359704;ENST00000275184	T;T;T	0.80909	1.16;-1.43;-1.43	5.76	0.941	0.19519	Zinc finger, C6HC-type (2);	0.174445	0.50627	D	0.000117	T	0.66307	0.2776	L	0.50333	1.59	0.26524	P	0.9743804	P;P	0.43542	0.81;0.624	P;B	0.45794	0.493;0.397	T	0.64245	-0.6453	9	0.56958	D	0.05	.	9.9629	0.41708	0.4762:0.0:0.5238:0.0	.	89;146	Q8TC41;F2Z2M4	RN217_HUMAN;.	F	146;89;25	ENSP00000428698:V146F;ENSP00000352734:V89F;ENSP00000275184:V25F	ENSP00000275184:V25F	V	+	1	0	RNF217	125420811	0.999000	0.42202	0.933000	0.37362	0.975000	0.68041	1.298000	0.33412	-0.047000	0.13423	-1.003000	0.02500	GTC	RNF217	-	pfam_Znf_C6HC,smart_Znf_C6HC	ENSG00000146373		0.408	RNF217-002	NOVEL	basic|appris_principal	protein_coding	RNF217	HGNC	protein_coding	OTTHUMT00000042063.3	156	0.00	0	G	NM_152553		125379112	125379112	+1	no_errors	ENST00000560949	ensembl	human	known	69_37n	missense	109	42.63	81	SNP	0.835	T
RPS6KC1	26750	genome.wustl.edu	37	1	213405469	213405469	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr1:213405469C>G	ENST00000366960.3	+	10	1246	c.1096C>G	c.(1096-1098)Cta>Gta	p.L366V	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L154V|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L69V|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L354V	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	366	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTGTCAGGGTCTAAGGAAAAG	0.463																																						dbGAP											0													143.0	118.0	126.0					1																	213405469		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1096C>G	1.37:g.213405469C>G	ENSP00000355927:p.Leu366Val		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_cat_dom	p.L366V	ENST00000366960.3	37	c.1096	CCDS1513.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990017	0.74589	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000005	T	0.56124	0.1964	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.996	T	0.56757	-0.7926	10	0.87932	D	0	-8.6699	19.6602	0.95864	0.0:1.0:0.0:0.0	.	154;366;354	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	V	154;366;354;69	ENSP00000442306:L154V;ENSP00000355927:L366V;ENSP00000355926:L354V;ENSP00000439282:L69V	ENSP00000355926:L354V	L	+	1	2	RPS6KC1	211472092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.458000	0.60095	2.729000	0.93468	0.460000	0.39030	CTA	RPS6KC1	-	superfamily_Kinase-like_dom	ENSG00000136643		0.463	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	120	0.00	0	C	NM_012424		213405469	213405469	+1	no_errors	ENST00000366960	ensembl	human	known	69_37n	missense	114	11.63	15	SNP	1.000	G
SACS	26278	genome.wustl.edu	37	13	23909580	23909580	+	Missense_Mutation	SNP	T	T	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr13:23909580T>G	ENST00000382292.3	-	9	8708	c.8435A>C	c.(8434-8436)gAa>gCa	p.E2812A	SACS_ENST00000382298.3_Missense_Mutation_p.E2812A|SACS_ENST00000402364.1_Missense_Mutation_p.E2062A			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2812					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGATTTCCTTCAGAGTCCTC	0.348																																						dbGAP											0													100.0	94.0	96.0					13																	23909580		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8435A>C	13.37:g.23909580T>G	ENSP00000371729:p.Glu2812Ala		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.E2812A	ENST00000382292.3	37	c.8435	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	T	18.82	3.704124	0.68615	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88664	-2.24;-2.41;-2.24	5.65	5.65	0.86999	.	0.051530	0.85682	D	0.000000	D	0.84442	0.5473	L	0.38175	1.15	0.43835	D	0.996412	B	0.29716	0.255	B	0.29598	0.104	T	0.81976	-0.0686	10	0.34782	T	0.22	.	15.9242	0.79603	0.0:0.0:0.0:1.0	.	2812	Q9NZJ4	SACS_HUMAN	A	2812;2062;2812	ENSP00000371729:E2812A;ENSP00000385844:E2062A;ENSP00000371735:E2812A	ENSP00000371729:E2812A	E	-	2	0	SACS	22807580	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.698000	0.84413	2.167000	0.68274	0.454000	0.30748	GAA	SACS	-	NULL	ENSG00000151835		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	105	0.00	0	T	NM_014363		23909580	23909580	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	111	14.62	19	SNP	1.000	G
SCAF8	22828	genome.wustl.edu	37	6	155124751	155124751	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr6:155124751C>T	ENST00000367178.3	+	8	1433	c.857C>T	c.(856-858)tCa>tTa	p.S286L	SCAF8_ENST00000417268.1_Missense_Mutation_p.S286L|SCAF8_ENST00000367186.4_Missense_Mutation_p.S352L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	286	Gln-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ATTCCAGCTTCACAACTGTAA	0.348																																						dbGAP											0													90.0	90.0	90.0					6																	155124751		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.857C>T	6.37:g.155124751C>T	ENSP00000356146:p.Ser286Leu		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.S352L	ENST00000367178.3	37	c.1055	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205363	0.79127	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.05139	3.49;3.49;3.49	5.72	5.72	0.89469	.	0.239338	0.36234	U	0.002706	T	0.04092	0.0114	L	0.36672	1.1	0.48762	D	0.999704	B;B;B;B	0.26635	0.115;0.115;0.023;0.155	B;B;B;B	0.28916	0.086;0.086;0.032;0.096	T	0.36648	-0.9739	10	0.49607	T	0.09	.	18.0229	0.89260	0.0:1.0:0.0:0.0	.	331;352;364;286	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	L	286;286;352	ENSP00000356146:S286L;ENSP00000413098:S286L;ENSP00000356154:S352L	ENSP00000356146:S286L	S	+	2	0	SCAF8	155166443	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.794000	0.75135	2.850000	0.98022	0.650000	0.86243	TCA	SCAF8	-	NULL	ENSG00000213079		0.348	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	137	0.00	0	C	NM_014892		155124751	155124751	+1	no_errors	ENST00000367186	ensembl	human	known	69_37n	missense	106	29.14	44	SNP	1.000	T
SCN11A	11280	genome.wustl.edu	37	3	38889049	38889049	+	Silent	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:38889049G>C	ENST00000302328.3	-	26	4710	c.4512C>G	c.(4510-4512)ctC>ctG	p.L1504L	SCN11A_ENST00000450244.1_Silent_p.L1504L|SCN11A_ENST00000456224.3_Silent_p.L1466L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1504					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAATCAGAAAGAGTAGAAGAC	0.443																																						dbGAP											0													81.0	82.0	82.0					3																	38889049		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4512C>G	3.37:g.38889049G>C			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.L1504	ENST00000302328.3	37	c.4512	CCDS33737.1	3																																																																																			SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.443	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	73	0.00	0	G	NM_014139		38889049	38889049	-1	no_errors	ENST00000302328	ensembl	human	known	69_37n	silent	73	13.10	11	SNP	0.996	C
SIM1	6492	genome.wustl.edu	37	6	100897298	100897298	+	Silent	SNP	G	G	A	rs442333		TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr6:100897298G>A	ENST00000369208.3	-	6	1266	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	SIM1_ENST00000262901.4_Silent_p.L162L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	162					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTCATCCTCAGGAAGAAGGAG	0.622																																						dbGAP											0													51.0	45.0	47.0					6																	100897298		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.484C>T	6.37:g.100897298G>A			Q5TDP7	Silent	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd	p.L162	ENST00000369208.3	37	c.484	CCDS5045.1	6																																																																																			SIM1	-	NULL	ENSG00000112246		0.622	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	39	0.00	0	G	NM_005068		100897298	100897298	-1	no_errors	ENST00000262901	ensembl	human	known	69_37n	silent	23	39.47	15	SNP	1.000	A
SLC8A1	6546	genome.wustl.edu	37	2	40392055	40392055	+	Missense_Mutation	SNP	C	C	A	rs370151382		TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr2:40392055C>A	ENST00000403092.1	-	8	2141	c.2108G>T	c.(2107-2109)cGc>cTc	p.R703L	SLC8A1_ENST00000405269.1_Missense_Mutation_p.R667L|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R698L|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R667L|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R695L|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R667L|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R698L|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R667L|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R703L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R667L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	703					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R703H(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAGGATGGGGCGCCCCATTTC	0.512																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											190.0	179.0	183.0					2																	40392055		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2108G>T	2.37:g.40392055C>A	ENSP00000384763:p.Arg703Leu		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.R703L	ENST00000403092.1	37	c.2108	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746811	0.89663	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.63	5.63	0.86233	.	0.055504	0.64402	D	0.000003	T	0.40791	0.1131	L	0.57536	1.79	0.80722	D	1	P;P;P;P	0.49862	0.927;0.91;0.929;0.881	P;B;P;B	0.51999	0.687;0.34;0.611;0.441	T	0.19549	-1.0302	10	0.87932	D	0	.	17.2034	0.86912	0.0:1.0:0.0:0.0	.	667;690;698;703	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	L	667;703;698;703;698;667;667;703;695;690;667;667	ENSP00000383886:R667L;ENSP00000440727:R698L;ENSP00000384763:R703L;ENSP00000385678:R698L;ENSP00000385188:R667L;ENSP00000385535:R667L;ENSP00000332931:R703L;ENSP00000384908:R695L;ENSP00000385811:R667L;ENSP00000443515:R667L	ENSP00000332931:R703L	R	-	2	0	SLC8A1	40245559	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.857000	0.69525	2.652000	0.90054	0.655000	0.94253	CGC	SLC8A1	-	tigrfam_Na_Ca_Ex	ENSG00000183023		0.512	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	148	0.00	0	C	NM_021097		40392055	40392055	-1	no_errors	ENST00000332839	ensembl	human	known	69_37n	missense	142	28.28	56	SNP	1.000	A
SMG1	23049	genome.wustl.edu	37	16	18887618	18887618	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr16:18887618G>C	ENST00000446231.2	-	13	2130	c.1718C>G	c.(1717-1719)aCt>aGt	p.T573S	SMG1_ENST00000389467.3_Missense_Mutation_p.T573S|SMG1_ENST00000565224.1_Missense_Mutation_p.T547S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	573	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAGGGCACAAGTCATTTCTCC	0.403																																						dbGAP											0													45.0	42.0	43.0					16																	18887618		1815	4075	5890	-	-	-	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1718C>G	16.37:g.18887618G>C	ENSP00000402515:p.Thr573Ser		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.T573S	ENST00000446231.2	37	c.1718	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971646	0.34754	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01015	5.44;5.44	5.49	5.49	0.81192	Armadillo-type fold (1);	0.077091	0.51477	U	0.000098	T	0.00906	0.0030	N	0.12182	0.205	0.34168	D	0.669411	B	0.16603	0.018	B	0.14578	0.011	T	0.60193	-0.7311	10	0.14252	T	0.57	.	19.3528	0.94395	0.0:0.0:1.0:0.0	.	573	Q96Q15	SMG1_HUMAN	S	573	ENSP00000402515:T573S;ENSP00000374118:T573S	ENSP00000374118:T573S	T	-	2	0	SMG1	18795119	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.257000	0.72480	2.565000	0.86533	0.491000	0.48974	ACT	SMG1	-	superfamily_ARM-type_fold	ENSG00000157106		0.403	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	94	0.00	0	G	NM_015092		18887618	18887618	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	missense	77	23.00	23	SNP	1.000	C
SPTA1	6708	genome.wustl.edu	37	1	158637828	158637828	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr1:158637828C>G	ENST00000368147.4	-	15	2038	c.1858G>C	c.(1858-1860)Gtt>Ctt	p.V620L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	620					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCTTTTGAACCCTGCTCTTC	0.378																																						dbGAP											0													187.0	173.0	178.0					1																	158637828		1832	4086	5918	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1858G>C	1.37:g.158637828C>G	ENSP00000357129:p.Val620Leu		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.V620L	ENST00000368147.4	37	c.1858	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409994	0.42715	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37411	1.2;1.2	5.13	3.24	0.37175	.	0.304822	0.17989	N	0.155275	T	0.08980	0.0222	L	0.33093	0.98	0.39059	D	0.960491	B	0.12630	0.006	B	0.21546	0.035	T	0.17561	-1.0365	10	0.02654	T	1	.	9.7024	0.40196	0.0:0.781:0.1414:0.0776	.	620	P02549	SPTA1_HUMAN	L	620	ENSP00000357130:V620L;ENSP00000357129:V620L	ENSP00000357129:V620L	V	-	1	0	SPTA1	156904452	1.000000	0.71417	0.756000	0.31282	0.974000	0.67602	4.959000	0.63666	0.735000	0.32537	0.650000	0.86243	GTT	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.378	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	166	0.00	0	C	NM_003126		158637828	158637828	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	190	14.41	32	SNP	0.993	G
SRPK2	6733	genome.wustl.edu	37	7	104808475	104808475	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr7:104808475C>T	ENST00000393651.3	-	5	493	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	SRPK2_ENST00000357311.3_Missense_Mutation_p.E125K|SRPK2_ENST00000489828.1_Missense_Mutation_p.E125K	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AATTTTATTTCATCCAAGGCT	0.284																																						dbGAP											0													40.0	40.0	40.0					7																	104808475		2202	4297	6499	-	-	-	SO:0001583	missense	0			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.406G>A	7.37:g.104808475C>T	ENSP00000377262:p.Glu136Lys			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E136K	ENST00000393651.3	37	c.406	CCDS34724.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.591624	0.96590	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897;ENST00000460391	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82637	0.5080	M	0.92077	3.27	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.994;0.995	D	0.86416	0.1751	10	0.87932	D	0	-23.9938	19.6676	0.95898	0.0:1.0:0.0:0.0	.	136;125	P78362-2;P78362	.;SRPK2_HUMAN	K	136;125;125;173;125	ENSP00000377262:E136K;ENSP00000349863:E125K;ENSP00000419791:E125K;ENSP00000419240:E173K;ENSP00000417357:E125K	ENSP00000349863:E125K	E	-	1	0	SRPK2	104595711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.722000	0.84778	2.656000	0.90262	0.563000	0.77884	GAA	SRPK2	-	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	ENSG00000135250		0.284	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	99	0.00	0	C	NM_182691		104808475	104808475	-1	no_errors	ENST00000393651	ensembl	human	known	69_37n	missense	74	20.21	19	SNP	1.000	T
TAT	6898	genome.wustl.edu	37	16	71604626	71604626	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr16:71604626C>G	ENST00000355962.4	-	8	1001	c.868G>C	c.(868-870)Ggc>Cgc	p.G290R	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	290					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)	p.G290C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	AGGATCCAGCCCAACCTCCAG	0.488																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	dbGAP											1	Substitution - Missense(1)	lung(1)											81.0	73.0	76.0					16																	71604626		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.868G>C	16.37:g.71604626C>G	ENSP00000348234:p.Gly290Arg		B2R8I1|D3DWS2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,prints_ACC_synthase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.G290R	ENST00000355962.4	37	c.868	CCDS10903.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.170816	0.94807	.	.	ENSG00000198650	ENST00000355962	D	0.98717	-5.09	5.44	5.44	0.79542	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99477	0.9814	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98304	1.0520	10	0.87932	D	0	-19.9617	19.2736	0.94021	0.0:1.0:0.0:0.0	.	290	P17735	ATTY_HUMAN	R	290	ENSP00000348234:G290R	ENSP00000348234:G290R	G	-	1	0	TAT	70162127	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.783000	0.85696	2.546000	0.85860	0.563000	0.77884	GGC	TAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	ENSG00000198650		0.488	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	HGNC	protein_coding	OTTHUMT00000268989.1	119	0.00	0	C			71604626	71604626	-1	no_errors	ENST00000355962	ensembl	human	known	69_37n	missense	104	21.21	28	SNP	1.000	G
TCEANC	170082	genome.wustl.edu	37	X	13680946	13680946	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chrX:13680946C>G	ENST00000380600.1	+	2	406	c.319C>G	c.(319-321)Cat>Gat	p.H107D	TCEANC_ENST00000314720.4_Missense_Mutation_p.H137D|TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000544987.1_Missense_Mutation_p.H107D|TCEANC_ENST00000545566.1_Missense_Mutation_p.H107D			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	107					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGGACCTTCTCATGACCCAAG	0.428																																						dbGAP											0													35.0	31.0	33.0					X																	13680946		1862	4103	5965	-	-	-	SO:0001583	missense	0				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.319C>G	X.37:g.13680946C>G	ENSP00000369974:p.His107Asp		A6NI06|B2RDM3	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFS2M,pirsf_TF_IIS-rel	p.H137D	ENST00000380600.1	37	c.409		X	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.146214	0.00328	.	.	ENSG00000176896	ENST00000545566;ENST00000544987;ENST00000314720;ENST00000380600	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.98	3.2	0.36748	.	1.107710	0.06808	N	0.789870	T	0.26268	0.0641	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.29397	-1.0013	10	0.15066	T	0.55	.	5.6063	0.17381	0.1225:0.3566:0.4394:0.0815	.	137;107	Q8N8B7-2;Q8N8B7	.;TEANC_HUMAN	D	107;107;137;107	ENSP00000438952:H107D;ENSP00000440038:H107D;ENSP00000313886:H137D;ENSP00000369974:H107D	ENSP00000313886:H137D	H	+	1	0	TCEANC	13590867	0.047000	0.20315	0.225000	0.23894	0.042000	0.13812	2.303000	0.43646	0.445000	0.26639	-0.217000	0.12591	CAT	TCEANC	-	pirsf_TF_IIS-rel	ENSG00000176896		0.428	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	TCEANC	HGNC	protein_coding	OTTHUMT00000055796.1	35	0.00	0	C	NM_152634		13680946	13680946	+1	no_errors	ENST00000314720	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	0.002	G
TDRD6	221400	genome.wustl.edu	37	6	46657345	46657345	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr6:46657345G>C	ENST00000316081.6	+	1	1480	c.1480G>C	c.(1480-1482)Gag>Cag	p.E494Q	TDRD6_ENST00000544460.1_Missense_Mutation_p.E494Q|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	494					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGCGCAGGTAGAGTTTGTTAA	0.418																																						dbGAP											0													105.0	101.0	102.0					6																	46657345		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1480G>C	6.37:g.46657345G>C	ENSP00000346065:p.Glu494Gln		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.E494Q	ENST00000316081.6	37	c.1480	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735081	0.30774	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09255	3.0;3.0	5.88	5.01	0.66863	Maternal tudor protein (1);	0.223513	0.47093	D	0.000257	T	0.03348	0.0097	L	0.34521	1.04	0.27455	N	0.953325	P;P	0.41498	0.708;0.752	B;P	0.44860	0.332;0.462	T	0.33471	-0.9867	10	0.15952	T	0.53	-12.1733	6.7011	0.23225	0.0704:0.1307:0.6632:0.1356	.	494;494	F5H5M3;O60522	.;TDRD6_HUMAN	Q	494	ENSP00000443299:E494Q;ENSP00000346065:E494Q	ENSP00000346065:E494Q	E	+	1	0	TDRD6	46765304	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	2.372000	0.44257	1.475000	0.48197	0.655000	0.94253	GAG	TDRD6	-	pfam_Tudor	ENSG00000180113		0.418	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	52	0.00	0	G	XM_166443		46657345	46657345	+1	no_errors	ENST00000316081	ensembl	human	known	69_37n	missense	76	11.63	10	SNP	1.000	C
TELO2	9894	genome.wustl.edu	37	16	1555502	1555502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr16:1555502delT	ENST00000262319.6	+	16	2213	c.1934delT	c.(1933-1935)ctgfs	p.L645fs	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	645					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				ACCCCGTGCCTGCCAGAGGCA	0.672																																						dbGAP											0													34.0	38.0	36.0					16																	1555502		2198	4297	6495	-	-	-	SO:0001589	frameshift_variant	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1934delT	16.37:g.1555502delT	ENSP00000262319:p.Leu645fs		D3DU73|O75168|Q7LDV4|Q9BR21	Frame_Shift_Del	DEL	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.L645fs	ENST00000262319.6	37	c.1934	CCDS32363.1	16																																																																																			TELO2	-	NULL	ENSG00000100726		0.672	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	49	0.00	0	T	NM_016111		1555502	1555502	+1	no_errors	ENST00000262319	ensembl	human	known	69_37n	frame_shift_del	33	19.05	8	DEL	0.000	-
TESC	54997	genome.wustl.edu	37	12	117486929	117486929	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr12:117486929C>G	ENST00000335209.7	-	4	430	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	TESC_ENST00000535198.1_5'UTR|TESC_ENST00000541210.1_Missense_Mutation_p.E55Q|TESC_ENST00000392545.4_Missense_Mutation_p.E135Q			Q96BS2	CHP3_HUMAN	tescalcin	82					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		AAATTGATCTCATCAGCCAGG	0.537																																						dbGAP											0													158.0	135.0	143.0					12																	117486929		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.244G>C	12.37:g.117486929C>G	ENSP00000334785:p.Glu82Gln		F5H1Y5|Q9NWT9	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E135Q	ENST00000335209.7	37	c.403	CCDS9183.3	12	.	.	.	.	.	.	.	.	.	.	C	19.71	3.879199	0.72294	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210	T;T;T	0.50277	0.75;0.75;1.16	5.92	5.92	0.95590	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	M	0.66439	2.03	0.80722	D	1	P	0.34615	0.459	B	0.37387	0.248	T	0.42565	-0.9444	10	0.20046	T	0.44	-41.3794	19.0956	0.93249	0.0:1.0:0.0:0.0	.	82	Q96BS2	TESC_HUMAN	Q	82;135;55	ENSP00000334785:E82Q;ENSP00000376328:E135Q;ENSP00000445689:E55Q	ENSP00000334785:E82Q	E	-	1	0	TESC	115971312	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.285000	0.72658	2.811000	0.96726	0.555000	0.69702	GAG	TESC	-	NULL	ENSG00000088992		0.537	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESC	HGNC	protein_coding	OTTHUMT00000291363.2	88	0.00	0	C	NM_017899		117486929	117486929	-1	no_errors	ENST00000392545	ensembl	human	known	69_37n	missense	84	17.65	18	SNP	1.000	G
TG	7038	genome.wustl.edu	37	8	134030036	134030036	+	Silent	SNP	C	C	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr8:134030036C>A	ENST00000220616.4	+	38	6616	c.6576C>A	c.(6574-6576)ctC>ctA	p.L2192L	TG_ENST00000542445.1_Silent_p.L562L|TG_ENST00000377869.1_Silent_p.L2135L|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Silent_p.L325L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2192					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTCTCTGCTCAGCTATGAGG	0.562																																						dbGAP											0													89.0	81.0	84.0					8																	134030036		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6576C>A	8.37:g.134030036C>A			O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_CarbesteraseB,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.Q648K	ENST00000220616.4	37	c.1942	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012020	0.75046	.	.	ENSG00000042832	ENST00000519178	.	.	.	5.53	-2.45	0.06481	.	.	.	.	.	T	0.18257	0.0438	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26326	-1.0106	4	.	.	.	.	1.1576	0.01799	0.1317:0.2487:0.258:0.3615	.	.	.	.	K	648	.	.	Q	+	1	0	TG	134099218	0.000000	0.05858	0.000000	0.03702	0.617000	0.37484	-1.803000	0.01740	-0.133000	0.11537	-0.126000	0.14955	CAG	TG	-	NULL	ENSG00000042832		0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	55	0.00	0	C	NM_003235		134030036	134030036	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000519178	ensembl	human	novel	69_37n	missense	60	16.67	12	SNP	0.000	A
TMED2	10959	genome.wustl.edu	37	12	124069325	124069325	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr12:124069325G>C	ENST00000262225.3	+	1	248	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	TMED2_ENST00000509052.2_5'Flank|RP11-486O12.2_ENST00000498967.2_lincRNA	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	48	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		CCTCATCTTCGAGGTGGCGGA	0.647																																						dbGAP											0													59.0	57.0	58.0					12																	124069325		2203	4300	6503	-	-	-	SO:0001583	missense	0			X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.142G>C	12.37:g.124069325G>C	ENSP00000262225:p.Glu48Gln			Missense_Mutation	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.E48Q	ENST00000262225.3	37	c.142	CCDS9250.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.193840	0.94960	.	.	ENSG00000086598	ENST00000262225;ENST00000438031;ENST00000541504	T;T	0.15718	2.4;2.4	4.29	4.29	0.51040	GOLD (3);	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	N	0.20401	0.57	0.80722	D	1	P	0.37708	0.606	P	0.50934	0.654	T	0.01198	-1.1421	10	0.05833	T	0.94	-5.8335	17.2745	0.87111	0.0:0.0:1.0:0.0	.	48	Q15363	TMED2_HUMAN	Q	48	ENSP00000262225:E48Q;ENSP00000405845:E48Q	ENSP00000262225:E48Q	E	+	1	0	TMED2	122635278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.579000	0.74036	2.371000	0.80710	0.591000	0.81541	GAG	TMED2	-	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	ENSG00000086598		0.647	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED2	HGNC	protein_coding	OTTHUMT00000400606.1	49	0.00	0	G	NM_006815		124069325	124069325	+1	no_errors	ENST00000262225	ensembl	human	known	69_37n	missense	43	17.31	9	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr17:7576855G>A	ENST00000269305.4	-	9	1180	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*	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	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)	CTTAGTACCTGAAGGGTGAAA	0.448		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"""	34	Substitution - Nonsense(23)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)	lung(6)|large_intestine(4)|urinary_tract(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|skin(2)|ovary(2)|stomach(1)|breast(1)|oesophagus(1)											115.0	108.0	110.0					17																	7576855		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.991C>T	17.37:g.7576855G>A	ENSP00000269305:p.Gln331*		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	Nonsense_Mutation	SNP	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.Q331*	ENST00000269305.4	37	c.991	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117678	0.77323	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.95	2.88	0.33553	.	0.253251	0.40469	N	0.001098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-17.7352	9.751	0.40475	0.0:0.0:0.4869:0.5131	.	.	.	.	X	331;331;331;331;331;320;199	.	ENSP00000269305:Q331X	Q	-	1	0	TP53	7517580	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.858000	0.39408	0.557000	0.29117	-0.314000	0.08810	CAG	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.448	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	105	0.00	0	G	NM_000546		7576855	7576855	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	77	34.19	40	SNP	0.999	A
TPH1	7166	genome.wustl.edu	37	11	18042690	18042690	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr11:18042690G>A	ENST00000250018.2	-	10	1745	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C	TPH1_ENST00000525406.1_5'UTR|RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Missense_Mutation_p.R395C	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	395					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CCAAATGGACGCTTAATTGTT	0.348																																						dbGAP											0													169.0	172.0	171.0					11																	18042690		2200	4293	6493	-	-	-	SO:0001583	missense	0			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.1183C>T	11.37:g.18042690G>A	ENSP00000250018:p.Arg395Cys		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.R395C	ENST00000250018.2	37	c.1183	CCDS7829.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.276467	0.95459	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99791	-6.76;-6.76	5.53	5.53	0.82687	Aromatic amino acid hydroxylase, C-terminal (4);	0.051173	0.85682	D	0.000000	D	0.99873	0.9940	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96750	0.9553	10	0.87932	D	0	-17.5844	19.8304	0.96632	0.0:0.0:1.0:0.0	.	395	P17752	TPH1_HUMAN	C	395	ENSP00000250018:R395C;ENSP00000343550:R395C	ENSP00000250018:R395C	R	-	1	0	TPH1	17999266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.775000	0.95449	0.585000	0.79938	CGT	TPH1	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	ENSG00000129167		0.348	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH1	HGNC	protein_coding	OTTHUMT00000389696.1	147	0.00	0	G	NM_004179		18042690	18042690	-1	no_errors	ENST00000341556	ensembl	human	known	69_37n	missense	132	15.92	25	SNP	1.000	A
TREML3P	340206	genome.wustl.edu	37	6	41185634	41185634	+	RNA	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr6:41185634G>C	ENST00000564680.1	-	0	51									triggering receptor expressed on myeloid cells-like 3, pseudogene																		GATTTGGGCTGATAGGACCCT	0.517																																						dbGAP											0																																										-	-	-			0			AF534825		6p21.1	2012-04-20	2012-04-20	2012-04-20	ENSG00000184106	ENSG00000184106			30806	pseudogene	pseudogene	"""TREM like transcript 3"""	609716	"""triggering receptor expressed on myeloid cells-like 3"""	TREML3		12645956	Standard	NR_027256		Approved	TLT3	uc003oqb.3		OTTHUMG00000177313		6.37:g.41185634G>C				RNA	SNP	-	NULL	ENST00000564680.1	37	NULL		6																																																																																			TREML3P	-	-	ENSG00000184106		0.517	TREML3P-002	KNOWN	basic	processed_transcript	TREML3P	HGNC	pseudogene	OTTHUMT00000436224.1	50	0.00	0	G			41185634	41185634	-1	no_errors	ENST00000564680	ensembl	human	known	69_37n	rna	60	14.29	10	SNP	0.000	C
TRIM72	493829	genome.wustl.edu	37	16	31235541	31235541	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr16:31235541C>A	ENST00000322122.3	+	7	1183	c.899C>A	c.(898-900)cCg>cAg	p.P300Q	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TCTGCGCACCCGAGCCTGGTG	0.672																																						dbGAP											0													22.0	24.0	23.0					16																	31235541		2193	4288	6481	-	-	-	SO:0001583	missense	0			AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32671	protein-coding gene	gene with protein product	"""mitsugumin 53"""	613288	"""tripartite motif-containing 72"", ""tripartite motif containing 72"""			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.899C>A	16.37:g.31235541C>A	ENSP00000312675:p.Pro300Gln			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.P300Q	ENST00000322122.3	37	c.899	CCDS32437.1	16	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408212	0.62399	.	.	ENSG00000177238	ENST00000322122	T	0.14266	2.52	5.44	5.44	0.79542	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.085531	0.51477	D	0.000097	T	0.29321	0.0730	M	0.66506	2.035	0.42372	D	0.992454	D	0.71674	0.998	P	0.58454	0.839	T	0.00817	-1.1554	10	0.38643	T	0.18	.	13.0452	0.58922	0.1613:0.8387:0.0:0.0	.	300	Q6ZMU5	TRI72_HUMAN	Q	300	ENSP00000312675:P300Q	ENSP00000312675:P300Q	P	+	2	0	TRIM72	31143042	0.313000	0.24554	0.987000	0.45799	0.803000	0.45373	1.019000	0.30014	2.570000	0.86706	0.491000	0.48974	CCG	TRIM72	-	superfamily_ConA-like_lec_gl,smart_PRY,prints_Butyrophylin,pfscan_B30.2/SPRY	ENSG00000177238		0.672	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM72	HGNC	protein_coding	OTTHUMT00000433567.1	21	0.00	0	C	NM_001008274		31235541	31235541	+1	no_errors	ENST00000322122	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	0.867	A
TRIT1	54802	genome.wustl.edu	37	1	40348988	40348988	+	Splice_Site	SNP	A	A	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr1:40348988A>T	ENST00000316891.5	-	1	189		c.e1+1		TRIT1_ENST00000545233.1_Splice_Site|TRIT1_ENST00000491865.1_Splice_Site|TRIT1_ENST00000541099.1_Splice_Site|TRIT1_ENST00000372818.1_Splice_Site|TRIT1_ENST00000537440.1_Splice_Site|TRIT1_ENST00000537223.1_Splice_Site|TRIT1_ENST00000544981.1_Splice_Site|TRIT1_ENST00000441669.2_Splice_Site|Y_RNA_ENST00000365352.1_RNA	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1						tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCACTGCCATACCTGCATGGA	0.677																																						dbGAP											0													17.0	20.0	19.0					1																	40348988		2195	4294	6489	-	-	-	SO:0001630	splice_region_variant	0			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.174+1T>A	1.37:g.40348988A>T			A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Splice_Site	SNP	-	e1+2	ENST00000316891.5	37	c.174+2	CCDS30681.1	1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.970976	0.92919	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000544981	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6794	0.69006	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIT1	40121575	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.521000	0.81832	2.153000	0.67306	0.374000	0.22700	.	TRIT1	-	-	ENSG00000043514		0.677	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TRIT1	HGNC	protein_coding	OTTHUMT00000025627.2	26	0	0	A	NM_017646	Intron	40348988	40348988	-1	no_errors	ENST00000316891	ensembl	human	known	69_37n	splice_site	28	17.65	6	SNP	1.000	T
TRMT61B	55006	genome.wustl.edu	37	2	29092829	29092829	+	Silent	SNP	C	C	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr2:29092829C>G	ENST00000306108.5	-	1	338	c.315G>C	c.(313-315)tcG>tcC	p.S105S		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	105					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GGTCTCCGCTCGAGTCCTCGA	0.622																																						dbGAP											0													48.0	51.0	50.0					2																	29092829		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.315G>C	2.37:g.29092829C>G			Q9H0Q9|Q9NWS7	Silent	SNP	pfam_tRNA_MeTrfase_GCD14,pfam_PCMT	p.S105	ENST00000306108.5	37	c.315	CCDS1768.1	2																																																																																			TRMT61B	-	NULL	ENSG00000171103		0.622	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT61B	HGNC	protein_coding	OTTHUMT00000250224.1	73	0.00	0	C	NM_017910		29092829	29092829	-1	no_errors	ENST00000306108	ensembl	human	known	69_37n	silent	57	19.72	14	SNP	0.000	G
TRPC5	7224	genome.wustl.edu	37	X	111025166	111025166	+	Silent	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chrX:111025166G>A	ENST00000262839.2	-	8	3015	c.2097C>T	c.(2095-2097)ttC>ttT	p.F699F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	699					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTCTTACTGTGAAACTTCTCA	0.458																																						dbGAP											0													78.0	76.0	77.0					X																	111025166		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2097C>T	X.37:g.111025166G>A			B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.F699	ENST00000262839.2	37	c.2097	CCDS14561.1	X																																																																																			TRPC5	-	tigrfam_TRP_channel	ENSG00000072315		0.458	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	75	0.00	0	G	NM_012471		111025166	111025166	-1	no_errors	ENST00000262839	ensembl	human	known	69_37n	silent	48	17.24	10	SNP	1.000	A
TRPM6	140803	genome.wustl.edu	37	9	77403596	77403596	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr9:77403596C>A	ENST00000360774.1	-	20	2838	c.2601G>T	c.(2599-2601)caG>caT	p.Q867H	TRPM6_ENST00000361255.3_Missense_Mutation_p.Q862H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q862H|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q867H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q867H|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	867					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCACGCTGGGCTGGGGCTGCA	0.502																																						dbGAP											0													127.0	103.0	111.0					9																	77403596		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2601G>T	9.37:g.77403596C>A	ENSP00000354006:p.Gln867His		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.Q867H	ENST00000360774.1	37	c.2601	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664359	0.29604	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.68	1.46	0.22682	.	0.472153	0.24823	N	0.035318	T	0.61299	0.2336	L	0.42245	1.32	0.29710	N	0.839449	P;P	0.48016	0.904;0.903	P;P	0.52217	0.497;0.693	T	0.61068	-0.7137	10	0.87932	D	0	.	9.6194	0.39712	0.0:0.5104:0.0:0.4896	.	867;862	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	H	867;867;862;862;867;530;530	ENSP00000354006:Q867H;ENSP00000407341:Q867H;ENSP00000396672:Q862H;ENSP00000354962:Q862H;ENSP00000366060:Q867H	ENSP00000309693:Q530H	Q	-	3	2	TRPM6	76593416	0.004000	0.15560	1.000000	0.80357	0.914000	0.54420	-0.054000	0.11826	0.244000	0.21351	0.563000	0.77884	CAG	TRPM6	-	NULL	ENSG00000119121		0.502	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	78	0.00	0	C	NM_017662		77403596	77403596	-1	no_errors	ENST00000451710	ensembl	human	known	69_37n	missense	57	29.63	24	SNP	0.059	A
TRPM6	140803	genome.wustl.edu	37	9	77415343	77415343	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr9:77415343G>A	ENST00000360774.1	-	17	2302	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000361255.3_Missense_Mutation_p.R684C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R684C|TRPM6_ENST00000451710.3_Missense_Mutation_p.R689C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R689C|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	689					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATGGCCATGCGCTCATTCTGC	0.512																																						dbGAP											0													112.0	93.0	100.0					9																	77415343		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2065C>T	9.37:g.77415343G>A	ENSP00000354006:p.Arg689Cys		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.R689C	ENST00000360774.1	37	c.2065	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375448	0.82682	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	6.06	2.7	0.31948	.	0.489513	0.24247	N	0.040205	D	0.84170	0.5413	L	0.43152	1.355	0.29420	N	0.860646	D;D;D	0.69078	0.989;0.997;0.989	P;P;P	0.54924	0.764;0.586;0.764	T	0.81970	-0.0689	10	0.72032	D	0.01	.	15.4779	0.75501	0.0:0.0:0.5498:0.4502	.	352;689;684	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	C	689;689;684;684;689;352;352	ENSP00000354006:R689C;ENSP00000407341:R689C;ENSP00000396672:R684C;ENSP00000354962:R684C;ENSP00000366060:R689C	ENSP00000309693:R352C	R	-	1	0	TRPM6	76605163	0.636000	0.27207	0.992000	0.48379	0.988000	0.76386	1.996000	0.40776	0.744000	0.32741	0.650000	0.86243	CGC	TRPM6	-	NULL	ENSG00000119121		0.512	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	47	0.00	0	G	NM_017662		77415343	77415343	-1	no_errors	ENST00000451710	ensembl	human	known	69_37n	missense	57	38.04	35	SNP	0.978	A
TTC29	83894	genome.wustl.edu	37	4	147830218	147830218	+	Silent	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr4:147830218C>T	ENST00000325106.4	-	5	586	c.360G>A	c.(358-360)ctG>ctA	p.L120L	TTC29_ENST00000513335.1_Silent_p.L146L|TTC29_ENST00000398886.4_Silent_p.L146L	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	120										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGTAATGGTACAGGTAATCCA	0.597																																						dbGAP											0													111.0	111.0	111.0					4																	147830218		1960	4148	6108	-	-	-	SO:0001819	synonymous_variant	0			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.360G>A	4.37:g.147830218C>T			A4GU95|Q9BXB6	Silent	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.L146	ENST00000325106.4	37	c.438	CCDS47141.1	4																																																																																			TTC29	-	NULL	ENSG00000137473		0.597	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC29	HGNC	protein_coding		99	0.00	0	C	NM_031956		147830218	147830218	-1	no_errors	ENST00000398886	ensembl	human	known	69_37n	silent	64	37.86	39	SNP	0.998	T
TTN	7273	genome.wustl.edu	37	2	179435073	179435073	+	Silent	SNP	G	G	C			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr2:179435073G>C	ENST00000591111.1	-	276	71087	c.70863C>G	c.(70861-70863)ctC>ctG	p.L23621L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L16322L|TTN_ENST00000460472.2_Silent_p.L16197L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.L22694L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.L25262L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L16389L|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23621	Fibronectin type-III 71. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGCAGCTGAGAGTCTGCA	0.428																																						dbGAP											0													61.0	58.0	59.0					2																	179435073		1943	4139	6082	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70863C>G	2.37:g.179435073G>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L22694	ENST00000591111.1	37	c.68082		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	83	0.00	0	G	NM_133378		179435073	179435073	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	102	14.29	17	SNP	0.503	C
TTN	7273	genome.wustl.edu	37	2	179616522	179616522	+	Intron	SNP	C	C	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr2:179616522C>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.M3535I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAACCAAGTCATTTCTGGAG	0.378																																						dbGAP											0													83.0	85.0	84.0					2																	179616522		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1328G>A	2.37:g.179616522C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.M3535I	ENST00000591111.1	37	c.10605		2	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.529294	0.00951	.	.	ENSG00000155657	ENST00000360870;ENST00000446208	T	0.60424	0.19	5.86	1.56	0.23342	.	.	.	.	.	T	0.12475	0.0303	N	0.00034	-2.565	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.06144	-1.0843	9	0.15066	T	0.55	.	5.3571	0.16067	0.2118:0.4944:0.0:0.2937	.	3535	Q8WZ42-6	.	I	3535;140	ENSP00000354117:M3535I	ENSP00000354117:M3535I	M	-	3	0	TTN	179324767	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	0.185000	0.16958	0.399000	0.25367	0.655000	0.94253	ATG	TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	45	0.00	0	C	NM_133378		179616522	179616522	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	missense	48	34.25	25	SNP	0.925	T
TYRP1	7306	genome.wustl.edu	37	9	12704689	12704689	+	Silent	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr9:12704689G>A	ENST00000388918.5	+	6	1374	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	TYRP1_ENST00000381137.2_Silent_p.L124L|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Silent_p.L125L	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	415					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ATGAATGGCTGAGGAGATACA	0.438									Oculocutaneous Albinism																													dbGAP											0													119.0	103.0	108.0					9																	12704689		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1245G>A	9.37:g.12704689G>A			P78468|P78469|Q13721|Q15679	Silent	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.L415	ENST00000388918.5	37	c.1245	CCDS34990.1	9																																																																																			TYRP1	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre	ENSG00000107165		0.438	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRP1	HGNC	protein_coding	OTTHUMT00000055502.3	30	0.00	0	G	NM_000550		12704689	12704689	+1	no_errors	ENST00000388918	ensembl	human	known	69_37n	silent	62	13.89	10	SNP	0.992	A
U2SURP	23350	genome.wustl.edu	37	3	142775289	142775289	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr3:142775289C>A	ENST00000473835.2	+	28	3177	c.3087C>A	c.(3085-3087)caC>caA	p.H1029Q	U2SURP_ENST00000493598.2_Missense_Mutation_p.H1028Q|U2SURP_ENST00000397933.2_Missense_Mutation_p.H620Q	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	1029					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AAAACAAACACTGACGTAAAT	0.368																																						dbGAP											0													58.0	58.0	58.0					3																	142775289		1844	4084	5928	-	-	-	SO:0001583	missense	0			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.3087C>A	3.37:g.142775289C>A	ENSP00000418563:p.His1029Gln		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom	p.H1029Q	ENST00000473835.2	37	c.3087	CCDS46928.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.68|15.68	2.904443|2.904443	0.52333|0.52333	.|.	.|.	ENSG00000163714|ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598|ENST00000467348	T;T|.	0.15834|.	2.39;2.39|.	5.63|5.63	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61540|0.61540	0.2355|0.2355	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D;D;P|.	0.53462|.	0.96;0.96;0.932|.	D;D;P|.	0.66497|.	0.944;0.944;0.88|.	T|T	0.58978|0.58978	-0.7540|-0.7540	10|5	0.72032|.	D|.	0.01|.	.|.	14.5371|14.5371	0.67969|0.67969	0.0:0.9297:0.0:0.0703|0.0:0.9297:0.0:0.0703	.|.	1028;620;1029|.	O15042-2;O15042-3;O15042|.	.;.;SR140_HUMAN|.	Q|M	1029;1029;620;1028|290	ENSP00000418563:H1029Q;ENSP00000422011:H1028Q|.	ENSP00000322376:H1029Q|.	H|L	+|+	3|1	2|2	U2SURP|U2SURP	144257979|144257979	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	5.778000|5.778000	0.68940|0.68940	1.386000|1.386000	0.46466|0.46466	0.650000|0.650000	0.86243|0.86243	CAC|CTG	U2SURP	-	NULL	ENSG00000163714		0.368	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	HGNC	protein_coding	OTTHUMT00000354603.2	66	0.00	0	C	NM_001080415		142775289	142775289	+1	no_errors	ENST00000319822	ensembl	human	known	69_37n	missense	58	28.40	23	SNP	1.000	A
WDPCP	51057	genome.wustl.edu	37	2	63380681	63380681	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr2:63380681C>G	ENST00000272321.7	-	16	2634	c.2107G>C	c.(2107-2109)Gaa>Caa	p.E703Q	WDPCP_ENST00000398544.3_Missense_Mutation_p.E544Q|WDPCP_ENST00000409120.1_Missense_Mutation_p.E511Q|WDPCP_ENST00000409199.1_Missense_Mutation_p.E511Q	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	703					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						ATGTCTTTTTCAAGTTCATTC	0.294																																						dbGAP											0													92.0	86.0	88.0					2																	63380681		1802	4058	5860	-	-	-	SO:0001583	missense	0				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.2107G>C	2.37:g.63380681C>G	ENSP00000272321:p.Glu703Gln		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.E703Q	ENST00000272321.7	37	c.2107	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	C	8.327	0.825592	0.16749	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.76578	-1.03;-0.45;-0.45;-0.45	4.57	4.57	0.56435	.	.	.	.	.	T	0.78898	0.4356	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.986;0.994	T	0.79843	-0.1632	9	0.46703	T	0.11	-8.7499	13.2459	0.60024	0.0:1.0:0.0:0.0	.	703;544	O95876;O95876-3	FRITZ_HUMAN;.	Q	703;511;511;544	ENSP00000272321:E703Q;ENSP00000386592:E511Q;ENSP00000386769:E511Q;ENSP00000381552:E544Q	ENSP00000272321:E703Q	E	-	1	0	WDPCP	63234185	0.999000	0.42202	0.961000	0.40146	0.380000	0.30137	3.360000	0.52299	2.236000	0.73375	0.650000	0.86243	GAA	WDPCP	-	NULL	ENSG00000143951		0.294	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	90	0.00	0	C	NM_015910		63380681	63380681	-1	no_errors	ENST00000272321	ensembl	human	known	69_37n	missense	82	21.15	22	SNP	0.993	G
ZFP30	22835	genome.wustl.edu	37	19	38126353	38126353	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr19:38126353G>T	ENST00000351218.2	-	6	1646	c.1089C>A	c.(1087-1089)ttC>ttA	p.F363L	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.F363L|ZFP30_ENST00000392144.1_Missense_Mutation_p.F363L	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCACGACTGAAAGTCTTCC	0.433																																						dbGAP											0													70.0	71.0	71.0					19																	38126353		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1089C>A	19.37:g.38126353G>T	ENSP00000343581:p.Phe363Leu		Q58EY8	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.F363L	ENST00000351218.2	37	c.1089	CCDS33005.1	19	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021041	0.54576	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.46063	0.88;0.88;0.88	3.99	-3.87	0.04218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35646	N	0.003062	T	0.66277	0.2773	M	0.91561	3.22	0.29335	N	0.866441	D;D	0.67145	0.996;0.996	D;D	0.77557	0.99;0.99	T	0.68002	-0.5524	10	0.87932	D	0	.	14.8044	0.69942	0.3215:0.0:0.6785:0.0	.	363;363	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	L	363;363;363;278	ENSP00000343581:F363L;ENSP00000422930:F363L;ENSP00000375988:F363L	ENSP00000343581:F363L	F	-	3	2	ZFP30	42818193	0.075000	0.21258	0.977000	0.42913	0.887000	0.51463	0.391000	0.20784	-0.894000	0.03925	-1.851000	0.00568	TTC	ZFP30	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000120784		0.433	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP30	HGNC	protein_coding	OTTHUMT00000109601.2	80	0.00	0	G	NM_014898		38126353	38126353	-1	no_errors	ENST00000351218	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	0.955	T
ZIK1	284307	genome.wustl.edu	37	19	58101385	58101385	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr19:58101385G>A	ENST00000597850.1	+	4	421	c.206G>A	c.(205-207)gGc>gAc	p.G69D	ZIK1_ENST00000536878.2_Missense_Mutation_p.G56D|ZIK1_ENST00000599456.1_Missense_Mutation_p.G14D|ZIK1_ENST00000307468.4_Missense_Mutation_p.A14T	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCAGGTTGTGGCCATGGAACA	0.453																																						dbGAP											0													73.0	65.0	67.0					19																	58101385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.206G>A	19.37:g.58101385G>A	ENSP00000472867:p.Gly69Asp		O43339|Q3SY51|Q3SY53	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.G69D	ENST00000597850.1	37	c.206	CCDS33135.1	19	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839251	0.32513	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.00784	5.7	2.97	-1.28	0.09318	Krueppel-associated box (3);	.	.	.	.	T	0.00440	0.0014	N	0.04355	-0.22	0.09310	N	1	B;P	0.41947	0.444;0.766	B;B	0.37198	0.141;0.243	T	0.51663	-0.8677	9	0.38643	T	0.18	.	5.9492	0.19235	0.4982:0.0:0.5018:0.0	.	56;69	F5H435;Q3SY52	.;ZIK1_HUMAN	D	56;50;69	ENSP00000438487:G56D	ENSP00000303820:G69D	G	+	2	0	ZIK1	62793197	0.000000	0.05858	0.000000	0.03702	0.615000	0.37417	-0.394000	0.07296	-0.201000	0.10284	0.555000	0.69702	GGC	ZIK1	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000171649		0.453	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZIK1	HGNC	protein_coding	OTTHUMT00000466791.1	55	0.00	0	G	NM_001010879		58101385	58101385	+1	no_errors	ENST00000307468	ensembl	human	known	69_37n	missense	69	13.75	11	SNP	0.001	A
ZNF407	55628	genome.wustl.edu	37	18	72775342	72775342	+	Missense_Mutation	SNP	A	A	T			TCGA-GM-A2DH-01A-11D-A17W-09	TCGA-GM-A2DH-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3925c12c-b388-40ab-addf-2c3bf2c8398b	7f09df95-48bb-490a-9937-9a3d604760f2	g.chr18:72775342A>T	ENST00000299687.5	+	8	5665	c.5665A>T	c.(5665-5667)Acg>Tcg	p.T1889S		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1889					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCCGCCGCCACGCTGCAGAC	0.692																																						dbGAP											0													10.0	14.0	13.0					18																	72775342		2057	4183	6240	-	-	-	SO:0001583	missense	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5665A>T	18.37:g.72775342A>T	ENSP00000299687:p.Thr1889Ser		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.T1889S	ENST00000299687.5	37	c.5665	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	A	29.2	4.987065	0.93106	.	.	ENSG00000215421	ENST00000299687	T	0.16597	2.33	4.96	4.96	0.65561	.	.	.	.	.	T	0.40719	0.1128	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.26780	-1.0093	9	0.62326	D	0.03	.	14.6628	0.68885	1.0:0.0:0.0:0.0	.	1889	Q9C0G0	ZN407_HUMAN	S	1889	ENSP00000299687:T1889S	ENSP00000299687:T1889S	T	+	1	0	ZNF407	70904330	1.000000	0.71417	0.992000	0.48379	0.940000	0.58332	8.492000	0.90471	2.293000	0.77203	0.650000	0.86243	ACG	ZNF407	-	NULL	ENSG00000215421		0.692	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	23	0.00	0	A	NM_017757		72775342	72775342	+1	no_errors	ENST00000299687	ensembl	human	known	69_37n	missense	28	25.64	10	SNP	0.999	T
