#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
ACAD11	84129	genome.wustl.edu	37	3	132378481	132378481	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr3:132378481C>T	ENST00000264990.6	-	1	1086	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Missense_Mutation_p.E39K|UBA5_ENST00000473651.1_5'Flank|UBA5_ENST00000493720.2_5'Flank|ACAD11_ENST00000481970.2_Missense_Mutation_p.E39K|UBA5_ENST00000264991.4_Intron|UBA5_ENST00000494238.2_5'Flank|UBA5_ENST00000356232.4_5'UTR|ACAD11_ENST00000489991.1_5'UTR	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	39					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCCTCACGTTCGGCCCCAAAG	0.537											OREG0015804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													85.0	85.0	85.0					3																	132378481		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.115G>A	3.37:g.132378481C>T	ENSP00000264990:p.Glu39Lys	1594	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.E39K	ENST00000264990.6	37	c.115	CCDS3074.1	3	.	.	.	.	.	.	.	.	.	.	C	6.165	0.398715	0.11696	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	D;D;T	0.96554	-4.01;-4.05;1.94	5.86	-0.644	0.11479	Protein kinase-like domain (1);	.	.	.	.	D	0.92143	0.7509	L	0.50919	1.6	0.09310	N	0.999996	B;B	0.26318	0.018;0.146	B;B	0.17098	0.007;0.017	T	0.79451	-0.1798	9	0.10636	T	0.68	.	10.6509	0.45647	0.0:0.2682:0.5878:0.144	.	39;39	D6RDI8;Q709F0	.;ACD11_HUMAN	K	39	ENSP00000347636:E39K;ENSP00000264990:E39K;ENSP00000420907:E39K	ENSP00000264990:E39K	E	-	1	0	ACAD11	133861171	0.005000	0.15991	0.000000	0.03702	0.017000	0.09413	0.168000	0.16622	-0.117000	0.11872	-0.175000	0.13238	GAA	ACAD11	-	superfamily_Kinase-like_dom	ENSG00000240303		0.537	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	59	0.00	0	C	NM_032169		132378481	132378481	-1	no_errors	ENST00000264990	ensembl	human	known	69_37n	missense	36	35.71	20	SNP	0.000	T
ACADS	35	genome.wustl.edu	37	12	121177129	121177129	+	Missense_Mutation	SNP	G	G	T	rs371934737		TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr12:121177129G>T	ENST00000242592.4	+	10	1268	c.1117G>T	c.(1117-1119)Gtg>Ttg	p.V373L	ACADS_ENST00000411593.2_Missense_Mutation_p.V369L|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	373					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CATGGGCTACGTGACAGAGAT	0.642																																						dbGAP											0													27.0	29.0	28.0					12																	121177129		2200	4298	6498	-	-	-	SO:0001583	missense	0			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.1117G>T	12.37:g.121177129G>T	ENSP00000242592:p.Val373Leu		P78331	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.V373L	ENST00000242592.4	37	c.1117	CCDS9207.1	12	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491009	0.84962	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.95756	-3.8;-3.8	4.74	4.74	0.60224	Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.89196	0.6646	N	0.02685	-0.53	0.80722	D	1	P;P	0.39576	0.679;0.679	B;B	0.41440	0.357;0.357	D	0.89968	0.4091	10	0.33940	T	0.23	.	17.7425	0.88411	0.0:0.0:1.0:0.0	.	373;373	E5KSD5;P16219	.;ACADS_HUMAN	L	373;369	ENSP00000242592:V373L;ENSP00000401045:V369L	ENSP00000242592:V373L	V	+	1	0	ACADS	119661512	1.000000	0.71417	0.983000	0.44433	0.471000	0.32888	9.481000	0.97933	2.196000	0.70406	0.561000	0.74099	GTG	ACADS	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000122971		0.642	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADS	HGNC	protein_coding	OTTHUMT00000402861.1	48	0.00	0	G	NM_000017		121177129	121177129	+1	no_errors	ENST00000242592	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	1.000	T
ACO1	48	genome.wustl.edu	37	9	32427427	32427427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr9:32427427C>T	ENST00000309951.6	+	12	1615	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	ACO1_ENST00000541043.1_Nonsense_Mutation_p.Q394*|ACO1_ENST00000379923.1_Nonsense_Mutation_p.Q493*	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	493					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTATCTGTCTCAGCTTGGGTG	0.463																																						dbGAP											0													192.0	177.0	182.0					9																	32427427		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1477C>T	9.37:g.32427427C>T	ENSP00000309477:p.Gln493*		D3DRK7|Q14652|Q5VZA7	Nonsense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.Q493*	ENST00000309951.6	37	c.1477	CCDS6525.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.725603	0.98456	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000541043	.	.	.	5.93	3.9	0.45041	.	0.149076	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0694	14.8164	0.70039	0.3411:0.6589:0.0:0.0	.	.	.	.	X	529;493;493;394	.	ENSP00000309477:Q493X	Q	+	1	0	ACO1	32417427	0.912000	0.30974	1.000000	0.80357	0.985000	0.73830	1.023000	0.30065	1.498000	0.48600	-0.169000	0.13324	CAG	ACO1	-	pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000122729		0.463	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	HGNC	protein_coding	OTTHUMT00000051998.3	183	0.00	0	C	NM_002197		32427427	32427427	+1	no_errors	ENST00000309951	ensembl	human	known	69_37n	nonsense	113	34.30	59	SNP	0.991	T
ACSL5	51703	genome.wustl.edu	37	10	114172996	114172996	+	Silent	SNP	C	C	T	rs201532224		TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr10:114172996C>T	ENST00000393081.1	+	12	1321	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	ACSL5_ENST00000433418.1_Silent_p.D338D|ACSL5_ENST00000354273.4_Silent_p.D338D|ACSL5_ENST00000356116.1_Silent_p.D394D|ACSL5_ENST00000354655.4_Silent_p.D338D|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000369410.3_Silent_p.D120D	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	338					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TGCTGGCTGACGACATGAAGA	0.473													c|||	1	0.000199681	0.0	0.0	5008	,	,		19823	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													213.0	186.0	195.0					10																	114172996		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1014C>T	10.37:g.114172996C>T			A6GV77|D3DRB3|Q6UX44|Q9UIU4	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.D394	ENST00000393081.1	37	c.1182	CCDS7573.1	10																																																																																			ACSL5	-	pfam_AMP-dep_Synth/Lig	ENSG00000197142		0.473	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL5	HGNC	protein_coding	OTTHUMT00000050386.1	107	0.00	0	C	NM_016234		114172996	114172996	+1	no_errors	ENST00000356116	ensembl	human	known	69_37n	silent	85	15.00	15	SNP	0.978	T
AHNAK	79026	genome.wustl.edu	37	11	62288755	62288755	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr11:62288755C>T	ENST00000378024.4	-	5	13408	c.13134G>A	c.(13132-13134)atG>atA	p.M4378I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4378					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTGATGTTCATCTCTGGCA	0.473																																						dbGAP											0													146.0	152.0	150.0					11																	62288755		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13134G>A	11.37:g.62288755C>T	ENSP00000367263:p.Met4378Ile		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M4378I	ENST00000378024.4	37	c.13134	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	C	6.448	0.450753	0.12223	.	.	ENSG00000124942	ENST00000378024	T	0.01126	5.3	4.84	2.96	0.34315	.	0.056663	0.64402	D	0.000005	T	0.01695	0.0054	L	0.61218	1.895	0.31043	N	0.716115	B	0.13145	0.007	B	0.12156	0.007	T	0.14008	-1.0488	10	0.21014	T	0.42	.	10.8698	0.46877	0.0:0.8439:0.0:0.1561	.	4378	Q09666	AHNK_HUMAN	I	4378	ENSP00000367263:M4378I	ENSP00000367263:M4378I	M	-	3	0	AHNAK	62045331	0.984000	0.35163	1.000000	0.80357	0.141000	0.21300	1.185000	0.32065	0.562000	0.29204	0.551000	0.68910	ATG	AHNAK	-	NULL	ENSG00000124942		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	106	0.00	0	C	NM_024060		62288755	62288755	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	64	37.86	39	SNP	1.000	T
ATAD2B	54454	genome.wustl.edu	37	2	24092590	24092590	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr2:24092590G>A	ENST00000238789.5	-	9	1362	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	340						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCTCATCAGAAGAAGTTGT	0.318																																						dbGAP											0													129.0	107.0	114.0					2																	24092590		1837	4095	5932	-	-	-	SO:0001583	missense	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1019C>T	2.37:g.24092590G>A	ENSP00000238789:p.Ser340Phe		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S340F	ENST00000238789.5	37	c.1019	CCDS46227.1	2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952796	0.92660	.	.	ENSG00000119778	ENST00000238789;ENST00000442596;ENST00000439915	D;T	0.93763	-3.28;-0.67	5.3	5.3	0.74995	.	.	.	.	.	D	0.96374	0.8817	M	0.68952	2.095	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.96603	0.9446	9	0.87932	D	0	.	19.3339	0.94307	0.0:0.0:1.0:0.0	.	354;340	C9JG15;Q9ULI0	.;ATD2B_HUMAN	F	340;192;354	ENSP00000238789:S340F;ENSP00000403177:S354F	ENSP00000238789:S340F	S	-	2	0	ATAD2B	23946094	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.552000	0.98115	2.655000	0.90218	0.555000	0.69702	TCT	ATAD2B	-	NULL	ENSG00000119778		0.318	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1	87	0.00	0	G	NM_017552		24092590	24092590	-1	no_errors	ENST00000238789	ensembl	human	known	69_37n	missense	56	33.33	28	SNP	1.000	A
BAG1	573	genome.wustl.edu	37	9	33261117	33261117	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr9:33261117C>T	ENST00000379704.2	-	3	719	c.286G>A	c.(286-288)Gat>Aat	p.D96N	BAG1_ENST00000467389.2_5'Flank|BAG1_ENST00000472232.3_Missense_Mutation_p.D211N			Q99933	BAG1_HUMAN	BCL2-associated athanogene	211	7 X 6 AA tandem repeat of E-E-X(4).				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			CGGCAACCATCTTGTATTCCA	0.368																																					GBM(77;1066 1502 5858 12192)	dbGAP											0													112.0	110.0	110.0					9																	33261117		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.286G>A	9.37:g.33261117C>T	ENSP00000369026:p.Asp96Asn		O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Missense_Mutation	SNP	pfam_BAG_domain,pfam_Ubiquitin,smart_Ubiquitin,smart_BAG_domain,pfscan_BAG_domain,pfscan_Ubiquitin_supergroup	p.D211N	ENST00000379704.2	37	c.631	CCDS55301.1	9	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673823	0.47781	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704;ENST00000473781	T;T;T	0.74421	-0.84;-0.84;-0.84	4.93	2.61	0.31194	Ubiquitin supergroup (1);Ubiquitin (2);	0.334215	0.35179	N	0.003387	T	0.44932	0.1317	N	0.04746	-0.17	0.25286	N	0.989392	B;B	0.09022	0.001;0.002	B;B	0.10450	0.001;0.005	T	0.29274	-1.0017	10	0.07175	T	0.84	-8.3233	5.89	0.18904	0.0:0.2157:0.0:0.7843	.	140;211	Q99933-3;Q99933	.;BAG1_HUMAN	N	211;96;96;102	ENSP00000420514:D211N;ENSP00000369026:D96N;ENSP00000419092:D102N	ENSP00000369022:D96N	D	-	1	0	BAG1	33251117	0.996000	0.38824	0.997000	0.53966	0.819000	0.46315	0.366000	0.20365	0.380000	0.24823	-0.367000	0.07326	GAT	BAG1	-	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000107262		0.368	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG1	HGNC	protein_coding	OTTHUMT00000052042.3	31	0.00	0	C	NM_004323		33261117	33261117	-1	no_errors	ENST00000472232	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	0.998	T
C2orf69	205327	genome.wustl.edu	37	2	200790463	200790463	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr2:200790463G>A	ENST00000319974.5	+	2	1195	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	338						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						CCAAGTACGTGATCCAATGAG	0.393																																						dbGAP											0													109.0	103.0	105.0					2																	200790463		1883	4102	5985	-	-	-	SO:0001583	missense	0				CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38973"""					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.1012G>A	2.37:g.200790463G>A	ENSP00000312770:p.Asp338Asn		Q8NE30	Missense_Mutation	SNP	pfam_UPF0565	p.D338N	ENST00000319974.5	37	c.1012	CCDS46482.1	2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780393	0.90195	.	.	ENSG00000178074	ENST00000319974	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78301	-0.2257	9	0.66056	D	0.02	-23.8414	18.6669	0.91493	0.0:0.0:1.0:0.0	.	338	Q8N8R5	CB069_HUMAN	N	338	.	ENSP00000312770:D338N	D	+	1	0	C2orf69	200498708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.636000	0.89361	0.655000	0.94253	GAT	C2orf69	-	pfam_UPF0565	ENSG00000178074		0.393	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf69	HGNC	protein_coding	OTTHUMT00000335446.1	43	0.00	0	G	NM_153689		200790463	200790463	+1	no_errors	ENST00000319974	ensembl	human	known	69_37n	missense	39	17.02	8	SNP	1.000	A
C2orf69	205327	genome.wustl.edu	37	2	200790577	200790577	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr2:200790577G>C	ENST00000319974.5	+	2	1309	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	376						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						TCCTTCCATAGAGAATCACTT	0.363																																						dbGAP											0													35.0	34.0	34.0					2																	200790577		1826	4077	5903	-	-	-	SO:0001583	missense	0				CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38973"""					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.1126G>C	2.37:g.200790577G>C	ENSP00000312770:p.Glu376Gln		Q8NE30	Missense_Mutation	SNP	pfam_UPF0565	p.E376Q	ENST00000319974.5	37	c.1126	CCDS46482.1	2	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343285	0.41498	.	.	ENSG00000178074	ENST00000319974	.	.	.	5.62	4.71	0.59529	.	0.221119	0.49916	D	0.000125	T	0.39572	0.1083	L	0.29908	0.895	0.48696	D	0.999691	P	0.43477	0.808	B	0.38458	0.274	T	0.22034	-1.0228	9	0.36615	T	0.2	-7.7986	12.7852	0.57500	0.0817:0.0:0.9183:0.0	.	376	Q8N8R5	CB069_HUMAN	Q	376	.	ENSP00000312770:E376Q	E	+	1	0	C2orf69	200498822	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.939000	0.87685	1.296000	0.44742	0.650000	0.86243	GAG	C2orf69	-	NULL	ENSG00000178074		0.363	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf69	HGNC	protein_coding	OTTHUMT00000335446.1	45	0.00	0	G	NM_153689		200790577	200790577	+1	no_errors	ENST00000319974	ensembl	human	known	69_37n	missense	39	17.02	8	SNP	1.000	C
CAPN1	823	genome.wustl.edu	37	11	64974024	64974024	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr11:64974024G>A	ENST00000527323.1	+	12	1684	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	CAPN1_ENST00000524773.1_Missense_Mutation_p.E482K|CAPN1_ENST00000533820.1_Missense_Mutation_p.E482K|CAPN1_ENST00000279247.6_Missense_Mutation_p.E482K|CAPN1_ENST00000533129.1_Missense_Mutation_p.E482K			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	482	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CAACCTGCGAGAGGTCAGCAC	0.642																																						dbGAP											0													53.0	61.0	58.0					11																	64974024		2121	4229	6350	-	-	-	SO:0001583	missense	0			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1444G>A	11.37:g.64974024G>A	ENSP00000431984:p.Glu482Lys		Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E482K	ENST00000527323.1	37	c.1444	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.554347	0.96501	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.26	5.26	0.73747	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.240786	0.41500	D	0.000877	D	0.96769	0.8945	H	0.96604	3.85	0.80722	D	1	D	0.56746	0.977	D	0.64144	0.922	D	0.98063	1.0394	10	0.87932	D	0	.	16.3544	0.83230	0.0:0.0:1.0:0.0	.	482	P07384	CAN1_HUMAN	K	482;482;482;482;428;482	ENSP00000435272:E482K;ENSP00000431686:E482K;ENSP00000434176:E482K;ENSP00000279247:E482K;ENSP00000431984:E482K	ENSP00000259755:E428K	E	+	1	0	CAPN1	64730600	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.711000	0.98735	2.448000	0.82819	0.462000	0.41574	GAG	CAPN1	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III	ENSG00000014216		0.642	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	86	0.00	0	G			64974024	64974024	+1	no_errors	ENST00000279247	ensembl	human	known	69_37n	missense	94	22.95	28	SNP	1.000	A
CCDC129	223075	genome.wustl.edu	37	7	31594131	31594131	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr7:31594131G>A	ENST00000407970.3	+	3	244	c.206G>A	c.(205-207)gGa>gAa	p.G69E	CCDC129_ENST00000319386.3_Missense_Mutation_p.G69E|CCDC129_ENST00000409210.1_5'UTR|CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000451887.2_Missense_Mutation_p.G95E	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	69										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGGACTCTGGATTCTTGTAA	0.423																																						dbGAP											0													89.0	88.0	89.0					7																	31594131		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.206G>A	7.37:g.31594131G>A	ENSP00000384416:p.Gly69Glu		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	NULL	p.G95E	ENST00000407970.3	37	c.284	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271046	0.59540	.	.	ENSG00000180347	ENST00000409717;ENST00000456011;ENST00000319386;ENST00000407970;ENST00000454513;ENST00000451887;ENST00000538406	T;T;T;T;T;T	0.49139	0.79;0.85;2.15;2.36;0.82;2.33	5.15	4.26	0.50523	.	0.000000	0.42964	D	0.000621	T	0.47266	0.1436	L	0.50333	1.59	0.29277	N	0.870297	P;D;D;P	0.54047	0.933;0.964;0.964;0.93	P;P;P;B	0.48873	0.557;0.593;0.593;0.439	T	0.47586	-0.9106	10	0.41790	T	0.15	-7.8424	10.1253	0.42646	0.0919:0.0:0.9081:0.0	.	95;79;69;69	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	E	69;69;69;69;69;95;79	ENSP00000387220:G69E;ENSP00000390544:G69E;ENSP00000313062:G69E;ENSP00000384416:G69E;ENSP00000413233:G69E;ENSP00000395835:G95E	ENSP00000313062:G69E	G	+	2	0	CCDC129	31560656	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.927000	0.48900	1.508000	0.48769	0.650000	0.86243	GGA	CCDC129	-	NULL	ENSG00000180347		0.423	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	33	0.00	0	G	NM_194300		31594131	31594131	+1	no_errors	ENST00000451887	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	A
CDH4	1002	genome.wustl.edu	37	20	60485538	60485538	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr20:60485538G>A	ENST00000360469.5	+	9	1337	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	CDH4_ENST00000543233.1_Missense_Mutation_p.D343N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	417	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CACGGTGATGGACCGAGATCA	0.557																																						dbGAP											0													121.0	93.0	103.0					20																	60485538		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1249G>A	20.37:g.60485538G>A	ENSP00000353656:p.Asp417Asn		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.D417N	ENST00000360469.5	37	c.1249	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	g	23.4	4.416810	0.83449	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.61627	0.09;0.09	4.66	4.66	0.58398	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85570	0.5727	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91851	0.5491	9	.	.	.	.	17.1368	0.86742	0.0:0.0:1.0:0.0	.	417	P55283	CADH4_HUMAN	N	417;325;343	ENSP00000353656:D417N;ENSP00000443301:D343N	.	D	+	1	0	CDH4	59918933	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	9.189000	0.94928	2.145000	0.66743	0.556000	0.70494	GAC	CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179242		0.557	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	29	0.00	0	G	NM_001794		60485538	60485538	+1	no_errors	ENST00000360469	ensembl	human	known	69_37n	missense	40	24.53	13	SNP	1.000	A
CYP4F30P	100132708	genome.wustl.edu	37	2	131438382	131438382	+	RNA	SNP	G	G	C	rs62165313	byFrequency	TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr2:131438382G>C	ENST00000438109.1	+	0	760					NR_023391.1		Q9H0H9	C4F30_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 30, pseudogene																		TAAAGGAGAAGAGCAAGAGGT	0.493																																						dbGAP											0																																										-	-	-			0			AK093281		2q21.1	2013-11-11	2011-07-29	2011-07-29	ENSG00000214081	ENSG00000214081		"""Cytochrome P450s"""	25270	pseudogene	pseudogene			"""chromosome 2 open reading frame 14"""	C2orf14			Standard	NR_023391		Approved	DKFZp434F1719, 4F-se9[6:7:8]	uc002trt.3	Q9H0H9	OTTHUMG00000154046		2.37:g.131438382G>C				RNA	SNP	-	NULL	ENST00000438109.1	37	NULL		2																																																																																			CYP4F30P	-	-	ENSG00000214081		0.493	CYP4F30P-002	KNOWN	basic	processed_transcript	CYP4F30P	HGNC	pseudogene	OTTHUMT00000333660.1	37	0.00	0	G	NR_023391		131438382	131438382	+1	no_errors	ENST00000397485	ensembl	human	known	69_37n	rna	30	11.76	4	SNP	0.014	C
DBX2	440097	genome.wustl.edu	37	12	45429829	45429829	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr12:45429829G>A	ENST00000332700.6	-	2	643	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	158					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		gatgcagggcgccgacaggac	0.493																																						dbGAP											0													69.0	72.0	71.0					12																	45429829		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.472C>T	12.37:g.45429829G>A	ENSP00000331470:p.Arg158Cys			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.R158C	ENST00000332700.6	37	c.472	CCDS31781.1	12	.	.	.	.	.	.	.	.	.	.	G	6.517	0.463676	0.12402	.	.	ENSG00000185610	ENST00000332700	D	0.91237	-2.81	5.95	4.1	0.47936	.	0.308323	0.28476	N	0.015211	T	0.81702	0.4878	N	0.14661	0.345	0.44579	D	0.997541	B	0.22541	0.071	B	0.12156	0.007	T	0.75988	-0.3123	10	0.54805	T	0.06	-1.8236	11.192	0.48690	0.066:0.0:0.8055:0.1284	.	158	Q6ZNG2	DBX2_HUMAN	C	158	ENSP00000331470:R158C	ENSP00000331470:R158C	R	-	1	0	DBX2	43716096	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	4.007000	0.57093	0.824000	0.34613	-0.140000	0.14226	CGC	DBX2	-	NULL	ENSG00000185610		0.493	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBX2	HGNC	protein_coding	OTTHUMT00000404810.1	41	0.00	0	G	NM_001004329		45429829	45429829	-1	no_errors	ENST00000332700	ensembl	human	known	69_37n	missense	32	39.62	21	SNP	1.000	A
DISP1	84976	genome.wustl.edu	37	1	223176237	223176237	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr1:223176237C>T	ENST00000284476.6	+	8	1662	c.1498C>T	c.(1498-1500)Ctt>Ttt	p.L500F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	500	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCAGGATTATCTTCTAATGGA	0.398																																						dbGAP											0													102.0	97.0	99.0					1																	223176237		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1498C>T	1.37:g.223176237C>T	ENSP00000284476:p.Leu500Phe		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.L500F	ENST00000284476.6	37	c.1498	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121573	0.77436	.	.	ENSG00000154309	ENST00000284476	D	0.85339	-1.97	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.92675	0.7672	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91287	0.5056	10	0.41790	T	0.15	-17.0538	20.1336	0.98010	0.0:1.0:0.0:0.0	.	500	Q96F81	DISP1_HUMAN	F	500	ENSP00000284476:L500F	ENSP00000284476:L500F	L	+	1	0	DISP1	221242860	1.000000	0.71417	0.861000	0.33841	0.989000	0.77384	4.696000	0.61774	2.767000	0.95098	0.591000	0.81541	CTT	DISP1	-	pfam_Patched	ENSG00000154309		0.398	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	84	0.00	0	C	NM_032890		223176237	223176237	+1	no_errors	ENST00000284476	ensembl	human	known	69_37n	missense	81	25.45	28	SNP	1.000	T
DNAJB13	374407	genome.wustl.edu	37	11	73675980	73675980	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr11:73675980G>C	ENST00000339764.1	+	4	1143	c.392G>C	c.(391-393)cGa>cCa	p.R131P	DNAJB13_ENST00000543947.1_5'Flank|RP11-167N4.2_ENST00000540886.1_RNA|DNAJB13_ENST00000537753.1_5'UTR|RP11-167N4.2_ENST00000537019.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	131					protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CTCCAGGGCCGAGGGGTCAAG	0.498											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													54.0	60.0	58.0					11																	73675980		2200	4293	6493	-	-	-	SO:0001583	missense	0			AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"""Heat shock proteins / DNAJ (HSP40)"""	30718	protein-coding gene	gene with protein product	"""radial spoke 16 homolog A (Chlamydomonas)"""	610263	"""DnaJ (Hsp40) related, subfamily B, member 13"""				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.392G>C	11.37:g.73675980G>C	ENSP00000344431:p.Arg131Pro	1147	B3LEP4|Q8IZW5	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.R131P	ENST00000339764.1	37	c.392	CCDS8227.1	11	.	.	.	.	.	.	.	.	.	.	g	19.75	3.886526	0.72410	.	.	ENSG00000187726	ENST00000339764	D	0.83914	-1.78	5.35	5.35	0.76521	.	0.627610	0.15700	N	0.248989	D	0.88164	0.6363	L	0.60012	1.86	0.80722	D	1	D	0.65815	0.995	P	0.58266	0.836	D	0.86917	0.2064	10	0.42905	T	0.14	.	17.678	0.88236	0.0:0.0:1.0:0.0	.	131	P59910	DJB13_HUMAN	P	131	ENSP00000344431:R131P	ENSP00000344431:R131P	R	+	2	0	DNAJB13	73353628	0.857000	0.29778	1.000000	0.80357	0.982000	0.71751	2.942000	0.49018	2.528000	0.85240	0.449000	0.29647	CGA	DNAJB13	-	NULL	ENSG00000187726		0.498	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB13	HGNC	protein_coding	OTTHUMT00000398100.1	48	0.00	0	G	NM_153614		73675980	73675980	+1	no_errors	ENST00000339764	ensembl	human	known	69_37n	missense	18	47.06	16	SNP	1.000	C
DNM3	26052	genome.wustl.edu	37	1	172113818	172113818	+	Intron	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr1:172113818G>A	ENST00000355305.5	+	15	1846				DNM3_ENST00000367731.1_Intron|DNM3OS_ENST00000417354.1_RNA|DNM3_ENST00000358155.4_Intron|DNM3_ENST00000520906.1_Intron|MIR199A2_ENST00000385289.1_RNA			Q9UQ16	DYN3_HUMAN	dynamin 3						endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGGTCCTCAGGAAAAGCCTCC	0.532																																						dbGAP											0													39.0	36.0	37.0					1																	172113818		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1689+13390G>A	1.37:g.172113818G>A			A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	RNA	SNP	-	NULL	ENST00000355305.5	37	NULL		1																																																																																			DNM3OS	-	-	ENSG00000230630		0.532	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3OS	HGNC	protein_coding	OTTHUMT00000084531.1	46	0.00	0	G	NM_015569		172113818	172113818	-1	no_errors	ENST00000417354	ensembl	human	known	69_37n	rna	44	26.67	16	SNP	0.998	A
DPYSL3	1809	genome.wustl.edu	37	5	146778797	146778797	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr5:146778797C>T	ENST00000398514.3	-	11	1500	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	CTB-108O6.2_ENST00000607270.1_RNA|DPYSL3_ENST00000343218.5_Missense_Mutation_p.E491K|DPYSL3_ENST00000534907.1_Missense_Mutation_p.E3K	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	377					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTGGTTTTCGTCCATTTTC	0.423																																						dbGAP											0													152.0	149.0	150.0					5																	146778797		1899	4140	6039	-	-	-	SO:0001583	missense	0			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1129G>A	5.37:g.146778797C>T	ENSP00000381526:p.Glu377Lys		B3SXQ8|Q93012	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.E377K	ENST00000398514.3	37	c.1129	CCDS43381.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.589715|5.589715	0.96590|0.96590	.|.	.|.	ENSG00000113657|ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000534907|ENST00000520473	D;D;D|.	0.89875|.	-2.58;-2.58;-2.58|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76392|0.76392	0.3981|0.3981	M|M	0.70842|0.70842	2.15|2.15	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;P|.	0.74023|.	0.982;0.888|.	T|T	0.74523|0.74523	-0.3637|-0.3637	10|5	0.44086|.	T|.	0.13|.	-16.2045|-16.2045	19.6972|19.6972	0.96030|0.96030	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	491;377|.	B3SXQ8;Q14195|.	.;DPYL3_HUMAN|.	K|Q	377;491;3|75	ENSP00000381526:E377K;ENSP00000343690:E491K;ENSP00000441819:E3K|.	ENSP00000343690:E491K|.	E|R	-|-	1|2	0|0	DPYSL3|DPYSL3	146758990|146758990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.797000|7.797000	0.85911|0.85911	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GAA|CGA	DPYSL3	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000113657		0.423	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2	76	0.00	0	C	NM_001387		146778797	146778797	-1	no_errors	ENST00000398514	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	1.000	T
DSN1	79980	genome.wustl.edu	37	20	35386557	35386557	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr20:35386557A>C	ENST00000426836.1	-	8	1030	c.658T>G	c.(658-660)Tta>Gta	p.L220V	DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373750.4_Missense_Mutation_p.L220V|DSN1_ENST00000373734.4_Missense_Mutation_p.L113V|DSN1_ENST00000448110.2_Missense_Mutation_p.L204V|DSN1_ENST00000373740.3_Missense_Mutation_p.L148V|DSN1_ENST00000373745.3_Missense_Mutation_p.L220V	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	220					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TGACGTTCTAAAGAAAACCTG	0.348																																						dbGAP											0													38.0	38.0	38.0					20																	35386557		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.658T>G	20.37:g.35386557A>C	ENSP00000389810:p.Leu220Val		B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	pfam_Mtw1_DSN1	p.L220V	ENST00000426836.1	37	c.658	CCDS13286.1	20	.	.	.	.	.	.	.	.	.	.	A	15.45	2.837186	0.50951	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734;ENST00000449595;ENST00000447406;ENST00000438549	.	.	.	5.14	4.03	0.46877	.	1.223150	0.05677	N	0.589717	T	0.40119	0.1104	L	0.32530	0.975	0.25023	N	0.991323	D;P	0.56746	0.977;0.896	P;P	0.52066	0.689;0.519	T	0.19160	-1.0314	9	0.30078	T	0.28	-29.0804	8.9491	0.35779	0.8124:0.1876:0.0:0.0	.	113;220	Q5JW55;Q9H410	.;DSN1_HUMAN	V	220;220;204;153;220;148;113;204;220;120	.	ENSP00000362838:L153V	L	-	1	2	DSN1	34819971	0.994000	0.37717	0.998000	0.56505	0.874000	0.50279	1.253000	0.32886	0.953000	0.37825	-0.316000	0.08728	TTA	DSN1	-	pfam_Mtw1_DSN1	ENSG00000149636		0.348	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSN1	HGNC	protein_coding	OTTHUMT00000079043.2	22	0.00	0	A	NM_024918		35386557	35386557	-1	no_errors	ENST00000373745	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	0.998	C
F8	2157	genome.wustl.edu	37	X	154157956	154157956	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chrX:154157956G>T	ENST00000360256.4	-	14	4309	c.4109C>A	c.(4108-4110)aCc>aAc	p.T1370N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1370	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTGTGTGAGGGTGCTCGGGGT	0.443																																						dbGAP											0													231.0	199.0	210.0					X																	154157956		2203	4300	6503	-	-	-	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4109C>A	X.37:g.154157956G>T	ENSP00000353393:p.Thr1370Asn		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.T1370N	ENST00000360256.4	37	c.4109	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	g	2.405	-0.336582	0.05278	.	.	ENSG00000185010	ENST00000360256	D	0.99167	-5.51	4.53	0.372	0.16173	.	0.845483	0.10210	N	0.702262	D	0.96565	0.8879	M	0.65975	2.015	0.09310	N	1	P	0.38922	0.651	B	0.32289	0.143	D	0.92611	0.6099	10	0.39692	T	0.17	2.2267	1.762	0.02994	0.2163:0.1556:0.4687:0.1594	.	1370	P00451	FA8_HUMAN	N	1370	ENSP00000353393:T1370N	ENSP00000353393:T1370N	T	-	2	0	F8	153811150	0.001000	0.12720	0.002000	0.10522	0.037000	0.13140	0.491000	0.22419	0.239000	0.21243	0.597000	0.82753	ACC	F8	-	NULL	ENSG00000185010		0.443	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	87	0.00	0	G			154157956	154157956	-1	no_errors	ENST00000360256	ensembl	human	known	69_37n	missense	63	39.42	41	SNP	0.000	T
FAM175B	23172	genome.wustl.edu	37	10	126519945	126519945	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr10:126519945G>A	ENST00000298492.5	+	8	736	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	231					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						TGAAAAGAGTGAGCGAGTTGT	0.378																																						dbGAP											0													98.0	85.0	90.0					10																	126519945		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.691G>A	10.37:g.126519945G>A	ENSP00000298492:p.Glu231Lys		B4DKR2|Q96H11	Missense_Mutation	SNP	prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175	p.E231K	ENST00000298492.5	37	c.691	CCDS31308.2	10	.	.	.	.	.	.	.	.	.	.	G	32	5.136561	0.94517	.	.	ENSG00000165660	ENST00000298492	T	0.57436	0.4	5.7	5.7	0.88788	.	0.095704	0.64402	D	0.000001	T	0.65365	0.2684	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.66093	-0.6009	10	0.59425	D	0.04	-57.2804	19.8411	0.96685	0.0:0.0:1.0:0.0	.	231	Q15018	F175B_HUMAN	K	231	ENSP00000298492:E231K	ENSP00000298492:E231K	E	+	1	0	FAM175B	126509935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.415000	0.97375	2.683000	0.91414	0.655000	0.94253	GAG	FAM175B	-	NULL	ENSG00000165660		0.378	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM175B	HGNC	protein_coding	OTTHUMT00000050891.2	65	0.00	0	G	NM_032182		126519945	126519945	+1	no_errors	ENST00000298492	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	1.000	A
FGFR1OP2	26127	genome.wustl.edu	37	12	27107176	27107176	+	Silent	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr12:27107176C>T	ENST00000229395.3	+	2	427	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	FGFR1OP2_ENST00000546072.1_Silent_p.L29L|FGFR1OP2_ENST00000327214.5_Silent_p.L29L	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	29					wound healing (GO:0042060)	cytosol (GO:0005829)				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					AGCAGAATCTCTGATTGAGCA	0.388																																						dbGAP											0													96.0	84.0	88.0					12																	27107176		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.85C>T	12.37:g.27107176C>T			Q6R955|Q8N5L7|Q9P034|Q9UFK8	Silent	SNP	pfam_SIKE,superfamily_DNA-bd_dom_put	p.L29	ENST00000229395.3	37	c.85	CCDS8709.1	12																																																																																			FGFR1OP2	-	pfam_SIKE	ENSG00000111790		0.388	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	FGFR1OP2	HGNC	protein_coding	OTTHUMT00000402961.1	64	0.00	0	C	NM_015633		27107176	27107176	+1	no_errors	ENST00000229395	ensembl	human	known	69_37n	silent	43	30.65	19	SNP	1.000	T
GNL2	29889	genome.wustl.edu	37	1	38061424	38061424	+	5'UTR	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr1:38061424C>T	ENST00000373062.3	-	0	98					NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)						GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GCTTCACCATCTTGGCGACGA	0.607																																						dbGAP											0													125.0	98.0	107.0					1																	38061424		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.-1G>A	1.37:g.38061424C>T			Q9BWN7	RNA	SNP	-	NULL	ENST00000373062.3	37	NULL	CCDS421.1	1																																																																																			GNL2	-	-	ENSG00000134697		0.607	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1	84	0.00	0	C	NM_013285		38061424	38061424	-1	no_errors	ENST00000488496	ensembl	human	known	69_37n	rna	48	30.43	21	SNP	0.999	T
IGF2R	3482	genome.wustl.edu	37	6	160477534	160477534	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr6:160477534C>T	ENST00000356956.1	+	20	2921	c.2773C>T	c.(2773-2775)Cag>Tag	p.Q925*		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	925					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.Q925E(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTGTCCCATTCAGACAACGAC	0.552																																						dbGAP											1	Substitution - Missense(1)	lung(1)											199.0	153.0	168.0					6																	160477534		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2773C>T	6.37:g.160477534C>T	ENSP00000349437:p.Gln925*		Q7Z7G9|Q96PT5	Nonsense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.Q925*	ENST00000356956.1	37	c.2773	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.613414	0.96637	.	.	ENSG00000197081	ENST00000356956	.	.	.	4.25	3.28	0.37604	.	1.131800	0.06454	N	0.728163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-6.7431	6.5657	0.22511	0.3076:0.5275:0.1649:0.0	.	.	.	.	X	925	.	ENSP00000349437:Q925X	Q	+	1	0	IGF2R	160397524	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	1.563000	0.36364	2.314000	0.78098	0.561000	0.74099	CAG	IGF2R	-	pfam_CIMR	ENSG00000197081		0.552	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	38	0.00	0	C	NM_000876		160477534	160477534	+1	no_errors	ENST00000356956	ensembl	human	known	69_37n	nonsense	47	12.96	7	SNP	0.000	T
IL32	9235	genome.wustl.edu	37	16	3131810	3131810	+	lincRNA	SNP	T	T	C	rs148052546	byFrequency	TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr16:3131810T>C	ENST00000571404.1	-	0	210																		p.V172V(1)									GGCACGGGGTTCTGGCCTGGG	0.592													T|||	2501	0.499401	0.2564	0.5058	5008	,	,		14657	0.5417		0.6183	False		,,,				2504	0.6575					dbGAP											1	Substitution - coding silent(1)	central_nervous_system(1)																																								-	-	-			0																															16.37:g.3131810T>C				Silent	SNP	NULL	p.V172	ENST00000571404.1	37	c.516		16																																																																																			IL32	-	NULL	ENSG00000008517		0.592	RP11-473M20.9-002	KNOWN	basic	lincRNA	IL32	HGNC	lincRNA	OTTHUMT00000437122.1	18	0.00	0	T			3131810	3131810	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000525377	ensembl	human	putative	69_37n	silent	29	23.68	9	SNP	0.000	C
IMPG1	3617	genome.wustl.edu	37	6	76640797	76640797	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr6:76640797C>T	ENST00000369950.3	-	15	2305	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	Y_RNA_ENST00000363170.1_RNA|IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCCGCTTCCTCAGTCCGTTCG	0.552																																					Pancreas(37;839 1141 2599 26037)	dbGAP											0													100.0	79.0	86.0					6																	76640797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2116G>A	6.37:g.76640797C>T	ENSP00000358966:p.Glu706Lys			Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E706K	ENST00000369950.3	37	c.2116	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	C	5.319	0.244245	0.10077	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.19105	2.17;2.22	5.45	-0.817	0.10836	Epidermal growth factor-like, type 3 (1);	0.954039	0.08683	N	0.909233	T	0.02455	0.0075	N	0.08118	0	0.40611	D	0.981679	B	0.06786	0.001	B	0.06405	0.002	T	0.48445	-0.9035	10	0.12766	T	0.61	.	5.2853	0.15698	0.0:0.1459:0.3146:0.5395	.	706	Q17R60	IMPG1_HUMAN	K	706;67	ENSP00000358966:E706K;ENSP00000358968:E67K	ENSP00000358966:E706K	E	-	1	0	IMPG1	76697517	0.000000	0.05858	0.205000	0.23548	0.145000	0.21501	-1.063000	0.03465	-0.364000	0.08088	0.461000	0.40582	GAG	IMPG1	-	pfscan_EG-like_dom	ENSG00000112706		0.552	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	52	0.00	0	C	NM_001563		76640797	76640797	-1	no_errors	ENST00000369950	ensembl	human	known	69_37n	missense	41	22.64	12	SNP	0.420	T
CEP162	22832	genome.wustl.edu	37	6	84884479	84884479	+	Missense_Mutation	SNP	T	T	G	rs372206627		TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr6:84884479T>G	ENST00000403245.3	-	15	2106	c.1992A>C	c.(1990-1992)aaA>aaC	p.K664N	KIAA1009_ENST00000257766.4_Missense_Mutation_p.K588N|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTTGATTCAATTTGAAGAGTT	0.289																																						dbGAP											0													58.0	51.0	54.0					6																	84884479		2202	4295	6497	-	-	-	SO:0001583	missense	0																														ENST00000403245.3:c.1992A>C	6.37:g.84884479T>G	ENSP00000385215:p.Lys664Asn			Missense_Mutation	SNP	NULL	p.K664N	ENST00000403245.3	37	c.1992	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	T	14.62	2.588793	0.46110	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.35421	1.31;1.31	5.48	0.466	0.16716	.	0.636253	0.16537	N	0.210105	T	0.09555	0.0235	L	0.51422	1.61	0.09310	N	1	B	0.34015	0.435	B	0.33620	0.167	T	0.25537	-1.0129	10	0.19590	T	0.45	-4.0562	2.504	0.04640	0.1378:0.4021:0.1426:0.3175	.	664	Q5TB80	QN1_HUMAN	N	588;664	ENSP00000257766:K588N;ENSP00000385215:K664N	ENSP00000257766:K588N	K	-	3	2	KIAA1009	84941198	0.004000	0.15560	0.439000	0.26833	0.991000	0.79684	-0.003000	0.12901	0.134000	0.18681	0.460000	0.39030	AAA	KIAA1009	-	NULL	ENSG00000135315		0.289	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	70	0.00	0	T			84884479	84884479	-1	no_errors	ENST00000403245	ensembl	human	known	69_37n	missense	38	17.39	8	SNP	0.002	G
KIF1A	547	genome.wustl.edu	37	2	241696840	241696841	+	Intron	INS	-	-	TCC	rs143816642|rs10594016|rs533559120		TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr2:241696840_241696841insTCC	ENST00000320389.7	-	25	2714				KIF1A_ENST00000498729.2_In_Frame_Ins_p.917_918insE	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		cctcctcctcatcctcctcctc	0.678																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2555+935->GGA	2.37:g.241696847_241696849dupTCC			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	In_Frame_Ins	INS	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,prints_Kinesin_motor_dom,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom	p.918in_frame_insE	ENST00000320389.7	37	c.2754_2753	CCDS46561.1	2																																																																																			KIF1A	-	NULL	ENSG00000130294		0.678	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	23	0.00	0	-	NM_138483		241696840	241696841	-1	no_errors	ENST00000498729	ensembl	human	known	69_37n	in_frame_ins	14	30.00	6	INS	1.000:1.000	TCC
LCP1	3936	genome.wustl.edu	37	13	46705069	46705069	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr13:46705069G>A	ENST00000398576.2	-	18	2019	c.1631C>T	c.(1630-1632)cCg>cTg	p.P544L	LCP1_ENST00000323076.2_Missense_Mutation_p.P544L|LCP1_ENST00000435666.2_Missense_Mutation_p.P113L			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	544	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.		P -> A (in dbSNP:rs17067725).		actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.P544Q(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ACTAATCTTCGGGTCCTATGC	0.438			T	BCL6	NHL																																	dbGAP		Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	1	Substitution - Missense(1)	lung(1)											160.0	148.0	152.0					13																	46705069		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1631C>T	13.37:g.46705069G>A	ENSP00000381581:p.Pro544Leu		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	pfam_CH-domain,pfam_EF-hand,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.P544L	ENST00000398576.2	37	c.1631	CCDS9403.1	13	.	.	.	.	.	.	.	.	.	.	G	6.467	0.454383	0.12283	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.94862	-3.54;-3.54;-3.54	5.36	3.5	0.40072	Calponin homology domain (5);	1.088660	0.06887	N	0.803610	D	0.94739	0.8302	M	0.82056	2.57	0.25307	N	0.98923	P;B	0.36065	0.535;0.061	B;B	0.38616	0.277;0.119	D	0.87755	0.2594	10	0.62326	D	0.03	-13.255	10.6715	0.45762	0.0:0.2773:0.5945:0.1283	.	113;544	B4DUA0;P13796	.;PLSL_HUMAN	L	544;544;113	ENSP00000315757:P544L;ENSP00000381581:P544L;ENSP00000405134:P113L	ENSP00000315757:P544L	P	-	2	0	LCP1	45603070	0.172000	0.23043	0.765000	0.31456	0.012000	0.07955	0.954000	0.29175	1.387000	0.46486	-0.222000	0.12452	CCG	LCP1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000136167		0.438	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP1	HGNC	protein_coding	OTTHUMT00000044800.3	38	0.00	0	G	NM_002298		46705069	46705069	-1	no_errors	ENST00000323076	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.001	A
LILRA4	23547	genome.wustl.edu	37	19	54848842	54848842	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr19:54848842C>T	ENST00000291759.4	-	5	837	c.781G>A	c.(781-783)Gat>Aat	p.D261N	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	261	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGGAGGCCATCGGCCCCCTCC	0.667																																						dbGAP											0													23.0	26.0	25.0					19																	54848842		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.781G>A	19.37:g.54848842C>T	ENSP00000291759:p.Asp261Asn		Q32MC4	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.D261N	ENST00000291759.4	37	c.781	CCDS12890.1	19	.	.	.	.	.	.	.	.	.	.	.	8.027	0.760942	0.15914	.	.	ENSG00000239961	ENST00000291759	T	0.12147	2.71	2.51	-4.13	0.03904	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.253080	0.00465	N	0.000105	T	0.13713	0.0332	L	0.49640	1.575	0.09310	N	1	B	0.34147	0.438	B	0.35470	0.203	T	0.27020	-1.0086	10	0.30854	T	0.27	.	7.1207	0.25442	0.1336:0.6032:0.2632:0.0	.	261	P59901	LIRA4_HUMAN	N	261	ENSP00000291759:D261N	ENSP00000291759:D261N	D	-	1	0	LILRA4	59540654	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.556000	0.00924	-0.645000	0.05458	-0.519000	0.04390	GAT	LILRA4	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	ENSG00000239961		0.667	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	HGNC	protein_coding	OTTHUMT00000140229.2	62	0.00	0	C	NM_012276		54848842	54848842	-1	no_errors	ENST00000291759	ensembl	human	known	69_37n	missense	79	20.20	20	SNP	0.000	T
LTK	4058	genome.wustl.edu	37	15	41804458	41804458	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr15:41804458G>A	ENST00000263800.6	-	4	461	c.365C>T	c.(364-366)tCa>tTa	p.S122L	LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Missense_Mutation_p.S122L|LTK_ENST00000355166.5_Missense_Mutation_p.S122L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	122					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCCGTAGGCTGAGATCCTGCG	0.652										TSP Lung(18;0.14)																												dbGAP											0													23.0	29.0	27.0					15																	41804458		2203	4299	6502	-	-	-	SO:0001583	missense	0			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.365C>T	15.37:g.41804458G>A	ENSP00000263800:p.Ser122Leu		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S122L	ENST00000263800.6	37	c.365	CCDS10077.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.352303	0.95830	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.42900	0.96;0.96;0.96	4.18	4.18	0.49190	.	0.000000	0.30667	U	0.009139	T	0.61837	0.2379	M	0.68593	2.085	0.37850	D	0.929349	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.977	T	0.65524	-0.6147	10	0.35671	T	0.21	.	16.3122	0.82883	0.0:0.0:1.0:0.0	.	122;122;122	E9PFX4;P29376-4;P29376	.;.;LTK_HUMAN	L	122	ENSP00000347293:S122L;ENSP00000263800:S122L;ENSP00000392196:S122L	ENSP00000263800:S122L	S	-	2	0	LTK	39591750	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	5.707000	0.68370	2.160000	0.67779	0.561000	0.74099	TCA	LTK	-	NULL	ENSG00000062524		0.652	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2	19	0.00	0	G			41804458	41804458	-1	no_errors	ENST00000263800	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	1.000	A
MAP9	79884	genome.wustl.edu	37	4	156289820	156289820	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr4:156289820G>C	ENST00000311277.4	-	5	889	c.626C>G	c.(625-627)tCt>tGt	p.S209C	AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000600928.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S209C|AC097467.2_ENST00000597831.1_RNA|MAP9_ENST00000379248.2_Missense_Mutation_p.S136C	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	209					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AGAAGGTGCAGAATGTAACTC	0.428																																						dbGAP											0													199.0	185.0	190.0					4																	156289820		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.626C>G	4.37:g.156289820G>C	ENSP00000310593:p.Ser209Cys		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	NULL	p.S209C	ENST00000311277.4	37	c.626	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712671	0.48517	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000379248	T;T;T;T	0.46819	1.47;1.37;0.86;3.07	4.8	2.0	0.26442	.	0.323633	0.24662	N	0.036635	T	0.58694	0.2140	M	0.72894	2.215	0.09310	N	1	D;D;D;D	0.89917	0.99;1.0;0.998;0.998	P;D;D;D	0.69479	0.847;0.964;0.911;0.911	T	0.50389	-0.8834	10	0.87932	D	0	0.7186	3.5711	0.07917	0.0941:0.1671:0.5661:0.1727	.	208;136;209;209	B4DVG9;A8MSM7;B9EJB6;Q49MG5	.;.;.;MAP9_HUMAN	C	209;209;208;209;136	ENSP00000310593:S209C;ENSP00000427402:S209C;ENSP00000394048:S208C;ENSP00000368550:S136C	ENSP00000310593:S209C	S	-	2	0	MAP9	156509270	0.001000	0.12720	0.000000	0.03702	0.226000	0.24999	0.977000	0.29475	0.140000	0.18849	0.467000	0.42956	TCT	MAP9	-	NULL	ENSG00000164114		0.428	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	175	0.00	0	G	NM_001039580		156289820	156289820	-1	no_errors	ENST00000311277	ensembl	human	known	69_37n	missense	122	12.23	17	SNP	0.000	C
MED23	9439	genome.wustl.edu	37	6	131925356	131925356	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr6:131925356T>C	ENST00000368068.3	-	15	1897	c.1718A>G	c.(1717-1719)tAt>tGt	p.Y573C	MED23_ENST00000403834.3_Missense_Mutation_p.Y579C|MED23_ENST00000545957.1_Missense_Mutation_p.Y214C|MED23_ENST00000368053.4_Missense_Mutation_p.Y579C|MED23_ENST00000539158.1_Intron|MED23_ENST00000368058.1_Missense_Mutation_p.Y579C|MED23_ENST00000368060.3_Missense_Mutation_p.Y573C|MED23_ENST00000540546.1_Missense_Mutation_p.Y579C|MED23_ENST00000354577.4_Missense_Mutation_p.Y579C	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	573					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TATTTCCATATAGACCAATAA	0.393																																						dbGAP											0													107.0	110.0	109.0					6																	131925356		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1718A>G	6.37:g.131925356T>C	ENSP00000357047:p.Tyr573Cys		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.Y579C	ENST00000368068.3	37	c.1736	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183940	0.78677	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.84243	0.5429	L	0.53249	1.67	0.80722	D	1	P;D;D;P	0.76494	0.919;0.999;0.965;0.956	P;D;P;P	0.79784	0.663;0.993;0.663;0.532	D	0.84560	0.0649	10	0.44086	T	0.13	-10.9428	15.8513	0.78934	0.0:0.0:0.0:1.0	.	214;579;573;579	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	C	579;573;579;573;579;214;579;579	ENSP00000346588:Y579C;ENSP00000357047:Y573C;ENSP00000384536:Y579C;ENSP00000357039:Y573C;ENSP00000357037:Y579C;ENSP00000439977:Y214C;ENSP00000357032:Y579C;ENSP00000437818:Y579C	ENSP00000346588:Y579C	Y	-	2	0	MED23	131967049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.152000	0.67230	0.533000	0.62120	TAT	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.393	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	29	0.00	0	T			131925356	131925356	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	missense	8	63.64	14	SNP	1.000	C
MEPE	56955	genome.wustl.edu	37	4	88767897	88767897	+	3'UTR	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr4:88767897G>A	ENST00000424957.3	+	0	1950				MEPE_ENST00000497649.2_3'UTR|MEPE_ENST00000560249.1_3'UTR|MEPE_ENST00000395102.4_3'UTR|MEPE_ENST00000361056.3_3'UTR|MEPE_ENST00000540395.1_3'UTR|MEPE_ENST00000508016.1_3'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein						biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TGCCTTCTATGTTGTTTGCTC	0.299																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.*299G>A	4.37:g.88767897G>A			A1A4X9|A8MTA3|D2CFR4|F5H5C5	RNA	SNP	-	NULL	ENST00000424957.3	37	NULL	CCDS3625.1	4																																																																																			MEPE	-	-	ENSG00000152595		0.299	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	49	0.00	0	G			88767897	88767897	+1	no_errors	ENST00000508016	ensembl	human	known	69_37n	rna	33	17.50	7	SNP	0.000	A
LOC101927314	101927314	genome.wustl.edu	37	6	98472424	98472424	+	lincRNA	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr6:98472424G>A	ENST00000607823.1	+	0	267				MIR2113_ENST00000459007.1_RNA																							AGCAATGTGTGACAGGTACAG	0.378																																						dbGAP											0													101.0	107.0	105.0					6																	98472424		692	1591	2283	-	-	-			0																															6.37:g.98472424G>A				RNA	SNP	-	NULL	ENST00000607823.1	37	NULL		6																																																																																			MIR2113	-	-	ENSG00000238367		0.378	RP11-436D23.1-003	KNOWN	not_organism_supported|basic	lincRNA	MIR2113	HGNC	lincRNA	OTTHUMT00000471318.1	32	0.00	0	G			98472424	98472424	+1	no_errors	ENST00000459007	ensembl	human	known	69_37n	rna	22	51.11	23	SNP	1.000	A
MSX1	4487	genome.wustl.edu	37	4	4864568	4864568	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr4:4864568G>T	ENST00000382723.4	+	2	844	c.610G>T	c.(610-612)Gag>Tag	p.E204*	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	204					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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 negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGAGCGCGCGGAGTTCTCCAG	0.627																																						dbGAP											0													41.0	44.0	43.0					4																	4864568		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.610G>T	4.37:g.4864568G>T	ENSP00000372170:p.Glu204*		A0SZU5|A8K3M1|Q96NY4	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E204*	ENST00000382723.4	37	c.610	CCDS3378.2	4	.	.	.	.	.	.	.	.	.	.	G	39	7.826392	0.98510	.	.	ENSG00000163132	ENST00000382723	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.8401	18.3263	0.90255	0.0:0.0:1.0:0.0	.	.	.	.	X	204	.	ENSP00000372170:E204X	E	+	1	0	MSX1	4915469	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.628000	0.98415	2.391000	0.81399	0.462000	0.41574	GAG	MSX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	ENSG00000163132		0.627	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX1	HGNC	protein_coding	OTTHUMT00000206700.3	48	0.00	0	G			4864568	4864568	+1	no_errors	ENST00000382723	ensembl	human	known	69_37n	nonsense	32	61.45	51	SNP	1.000	T
MTG1	92170	genome.wustl.edu	37	10	135233088	135233088	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr10:135233088C>T	ENST00000317502.6	+	10	907	c.857C>T	c.(856-858)aCg>aTg	p.T286M	MTG1_ENST00000477902.2_Missense_Mutation_p.T245M|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.T291M	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	286					GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		AAGGTGCTCACGGGCACGGGT	0.657																																						dbGAP											0													148.0	99.0	116.0					10																	135233088		2196	4298	6494	-	-	-	SO:0001583	missense	0				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.857C>T	10.37:g.135233088C>T	ENSP00000323047:p.Thr286Met		Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	pfam_GTP_binding_domain,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF	p.T286M	ENST00000317502.6	37	c.857	CCDS31320.1	10	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250944	0.39797	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508	T;T;T	0.47869	1.4;1.42;0.83	4.95	4.04	0.47022	GTP-binding protein, orthogonal bundle domain (1);	0.207616	0.50627	D	0.000117	T	0.60728	0.2291	M	0.64997	1.995	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.75020	0.975;0.985	T	0.58194	-0.7679	10	0.36615	T	0.2	-5.572	9.2437	0.37511	0.0:0.8987:0.0:0.1013	.	235;286	E7EVK2;Q9BT17	.;MTG1_HUMAN	M	291;286;235	ENSP00000436767:T291M;ENSP00000323047:T286M;ENSP00000393480:T235M	ENSP00000323047:T286M	T	+	2	0	AL360181.1;MTG1	135083078	0.996000	0.38824	0.743000	0.31040	0.043000	0.13939	4.521000	0.60532	1.082000	0.41137	-0.148000	0.13756	ACG	MTG1	-	pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF	ENSG00000148824		0.657	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	MTG1	Clone_based_vega_gene	protein_coding	OTTHUMT00000051166.1	30	0.00	0	C	NM_138384		135233088	135233088	+1	no_errors	ENST00000317502	ensembl	human	known	69_37n	missense	41	21.15	11	SNP	0.892	T
MUC12	10071	genome.wustl.edu	37	7	100647819	100647819	+	Missense_Mutation	SNP	C	C	T	rs11766024	byFrequency	TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr7:100647819C>T	ENST00000379442.3	+	5	14404	c.14404C>T	c.(14404-14406)Cac>Tac	p.H4802Y	MUC12_ENST00000536621.1_Missense_Mutation_p.H4659Y			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4802	Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)		p.H4659Y(1)		breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TACCAGCTACCACAGCAGCCC	0.517													-|||	1939	0.387181	0.1377	0.3213	5008	,	,		16279	0.5794		0.4473	False		,,,				2504	0.5112					dbGAP											1	Substitution - Missense(1)	stomach(1)											194.0	178.0	183.0					7																	100647819		692	1591	2283	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.14404C>T	7.37:g.100647819C>T	ENSP00000368755:p.His4802Tyr		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.H4802Y	ENST00000379442.3	37	c.14404		7	858	0.39285714285714285	73	0.1483739837398374	126	0.34806629834254144	314	0.548951048951049	345	0.4551451187335092	c	0.010	-1.749812	0.00669	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12039	2.72;2.72	0.735	-0.525	0.11917	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.47142	-0.9140	5	0.02654	T	1	.	.	.	.	rs11766024	.	.	.	Y	4802;4659	ENSP00000368755:H4802Y;ENSP00000441929:H4659Y	ENSP00000368755:H4802Y	H	+	1	0	MUC12	100434539	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.503000	0.06383	-1.868000	0.01142	-1.450000	0.01041	CAC	MUC12	-	NULL	ENSG00000205277		0.517	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	75	0.00	0	C	XM_379904		100647819	100647819	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	70	10.26	8	SNP	0.002	T
MYCT1	80177	genome.wustl.edu	37	6	153043257	153043257	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr6:153043257T>A	ENST00000367245.5	+	2	585	c.577T>A	c.(577-579)Tct>Act	p.S193T	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	193						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTCCAATATCTCTCCCACCAT	0.517																																						dbGAP											0													105.0	99.0	101.0					6																	153043257		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.577T>A	6.37:g.153043257T>A	ENSP00000356214:p.Ser193Thr		Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	NULL	p.S193T	ENST00000367245.5	37	c.577	CCDS5239.1	6	.	.	.	.	.	.	.	.	.	.	T	3.277	-0.147953	0.06627	.	.	ENSG00000120279	ENST00000367245	T	0.27402	1.67	5.65	4.5	0.54988	.	0.679669	0.15903	N	0.238998	T	0.05502	0.0145	N	0.19112	0.55	0.80722	D	1	B;B	0.20671	0.047;0.047	B;B	0.19946	0.027;0.015	T	0.23332	-1.0191	10	0.06494	T	0.89	-8.0846	6.104	0.20063	0.1797:0.0815:0.0:0.7387	.	145;193	D6Q1S4;Q8N699	.;MYCT1_HUMAN	T	193	ENSP00000356214:S193T	ENSP00000356214:S193T	S	+	1	0	MYCT1	153084950	0.005000	0.15991	0.074000	0.20217	0.011000	0.07611	0.417000	0.21214	0.979000	0.38497	0.482000	0.46254	TCT	MYCT1	-	NULL	ENSG00000120279		0.517	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCT1	HGNC	protein_coding	OTTHUMT00000042750.2	55	0.00	0	T	NM_025107		153043257	153043257	+1	no_errors	ENST00000367245	ensembl	human	known	69_37n	missense	30	31.82	14	SNP	0.945	A
MYCT1	80177	genome.wustl.edu	37	6	153043356	153043356	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr6:153043356G>A	ENST00000367245.5	+	2	684	c.676G>A	c.(676-678)Gag>Aag	p.E226K	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	226						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACCTGCCTATGAGTCCATCAT	0.483																																						dbGAP											0													77.0	81.0	79.0					6																	153043356		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.676G>A	6.37:g.153043356G>A	ENSP00000356214:p.Glu226Lys		Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	NULL	p.E226K	ENST00000367245.5	37	c.676	CCDS5239.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.514778|5.514778	0.96402|0.96402	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.34472|.	1.36|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.225506|.	0.45126|.	D|.	0.000386|.	T|T	0.68869|0.68869	0.3048|0.3048	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	P;P|.	0.48503|.	0.911;0.801|.	B;B|.	0.43867|.	0.434;0.434|.	T|T	0.64774|0.64774	-0.6328|-0.6328	10|5	0.66056|.	D|.	0.02|.	-6.4688|-6.4688	20.0503|20.0503	0.97624|0.97624	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	178;226|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	K|I	226|206	ENSP00000356214:E226K|.	ENSP00000356214:E226K|.	E|M	+|+	1|3	0|0	MYCT1|MYCT1	153085049|153085049	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.893000|0.893000	0.52053|0.52053	8.101000|8.101000	0.89546|0.89546	2.736000|2.736000	0.93811|0.93811	0.591000|0.591000	0.81541|0.81541	GAG|ATG	MYCT1	-	NULL	ENSG00000120279		0.483	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCT1	HGNC	protein_coding	OTTHUMT00000042750.2	39	0.00	0	G	NM_025107		153043356	153043356	+1	no_errors	ENST00000367245	ensembl	human	known	69_37n	missense	21	43.24	16	SNP	1.000	A
OR2G2	81470	genome.wustl.edu	37	1	247752099	247752099	+	Silent	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr1:247752099C>T	ENST00000320065.1	+	1	438	c.438C>T	c.(436-438)gcC>gcT	p.A146A	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTGCATGGCCTTGGCATCTA	0.562																																						dbGAP											0													245.0	210.0	222.0					1																	247752099		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.438C>T	1.37:g.247752099C>T			Q5JQT2|Q6IEZ0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A146	ENST00000320065.1	37	c.438	CCDS31092.1	1																																																																																			OR2G2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177489		0.562	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	34	0.00	0	C			247752099	247752099	+1	no_errors	ENST00000320065	ensembl	human	known	69_37n	silent	39	13.33	6	SNP	0.001	T
OTOF	9381	genome.wustl.edu	37	2	26781363	26781363	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr2:26781363C>A	ENST00000272371.2	-	1	203	c.77G>T	c.(76-78)cGa>cTa	p.R26L	OTOF_ENST00000403946.3_Missense_Mutation_p.R26L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	26					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCCTACCTCGGAAAGTCAC	0.652																																					GBM(102;732 1451 20652 24062 31372)	dbGAP											0													56.0	56.0	56.0					2																	26781363		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.77G>T	2.37:g.26781363C>A	ENSP00000272371:p.Arg26Leu		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R26L	ENST00000272371.2	37	c.77	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736655	0.89482	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.71817	-0.6;-0.6	5.85	4.97	0.65823	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.058459	0.64402	N	0.000003	T	0.71056	0.3295	M	0.74881	2.28	0.50813	D	0.999896	B	0.10296	0.003	B	0.08055	0.003	T	0.70033	-0.4983	10	0.72032	D	0.01	-25.244	14.2003	0.65699	0.1506:0.8494:0.0:0.0	.	26	Q9HC10	OTOF_HUMAN	L	26	ENSP00000272371:R26L;ENSP00000385255:R26L	ENSP00000272371:R26L	R	-	2	0	OTOF	26634867	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.652000	0.61454	1.455000	0.47813	0.650000	0.86243	CGA	OTOF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000115155		0.652	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	75	0.00	0	C			26781363	26781363	-1	no_errors	ENST00000272371	ensembl	human	known	69_37n	missense	62	47.90	57	SNP	1.000	A
PCDHA2	56146	genome.wustl.edu	37	5	140176058	140176058	+	Silent	SNP	G	G	A	rs527553477		TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr5:140176058G>A	ENST00000526136.1	+	1	1509	c.1509G>A	c.(1507-1509)gcG>gcA	p.A503A	PCDHA2_ENST00000520672.2_Silent_p.A503A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.A503A|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A503A(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCGCGTTGTCGAGCT	0.677																																						dbGAP											2	Substitution - coding silent(2)	endometrium(2)											58.0	60.0	60.0					5																	140176058		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1509G>A	5.37:g.140176058G>A			O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A503	ENST00000526136.1	37	c.1509	CCDS54914.1	5																																																																																			PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204969		0.677	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	113	0.00	0	G	NM_018905		140176058	140176058	+1	no_errors	ENST00000526136	ensembl	human	known	69_37n	silent	104	32.03	49	SNP	0.047	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	61	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	27	50.91	28	SNP	1.000	A
PLCB1	23236	genome.wustl.edu	37	20	8665692	8665692	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr20:8665692T>C	ENST00000338037.6	+	10	1003	c.976T>C	c.(976-978)Ttc>Ctc	p.F326L	PLCB1_ENST00000378637.2_Missense_Mutation_p.F326L|PLCB1_ENST00000378641.3_Missense_Mutation_p.F326L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	326	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTCTCACTATTTCATTAATTC	0.423																																						dbGAP											0													200.0	197.0	198.0					20																	8665692		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.976T>C	20.37:g.8665692T>C	ENSP00000338185:p.Phe326Leu		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.F326L	ENST00000338037.6	37	c.976	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	T	36	5.630664	0.96682	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.62788	-0.0;-0.0;-0.0	5.76	5.76	0.90799	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.81054	0.4743	M	0.88906	2.99	0.80722	D	1	D;D	0.56521	0.967;0.976	P;P	0.62014	0.897;0.793	D	0.83990	0.0337	10	0.54805	T	0.06	.	16.3786	0.83431	0.0:0.0:0.0:1.0	.	326;326	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	L	326;326;326;246;246	ENSP00000367908:F326L;ENSP00000338185:F326L;ENSP00000367904:F326L	ENSP00000338185:F326L	F	+	1	0	PLCB1	8613692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.323000	0.78572	0.528000	0.53228	TTC	PLCB1	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000182621		0.423	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	52	0.00	0	T			8665692	8665692	+1	no_errors	ENST00000338037	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	1.000	C
PRKCB	5579	genome.wustl.edu	37	16	24226123	24226123	+	Intron	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr16:24226123G>A	ENST00000321728.7	+	17	2038				PRKCB_ENST00000303531.7_Missense_Mutation_p.E670K	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta						apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TTTAAAACCCGAAGTCAAGAG	0.403																																						dbGAP											0													81.0	84.0	83.0					16																	24226123		2197	4300	6497	-	-	-	SO:0001627	intron_variant	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1864-5159G>A	16.37:g.24226123G>A			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E670K	ENST00000321728.7	37	c.2008	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633930	0.67130	.	.	ENSG00000166501	ENST00000303531	T	0.70399	-0.48	5.85	5.85	0.93711	.	0.218239	0.41294	D	0.000908	T	0.52597	0.1744	.	.	.	0.58432	D	0.999994	P	0.46220	0.874	B	0.33042	0.157	T	0.55140	-0.8187	9	0.11485	T	0.65	.	18.7291	0.91728	0.0:0.0:1.0:0.0	.	670	P05771-2	.	K	670	ENSP00000305355:E670K	ENSP00000305355:E670K	E	+	1	0	PRKCB	24133624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.732000	0.55021	2.768000	0.95171	0.655000	0.94253	GAA	PRKCB	-	pirsf_Protein_kinase_C_a/b/g	ENSG00000166501		0.403	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	27	0.00	0	G	NM_212535		24226123	24226123	+1	no_errors	ENST00000303531	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	1.000	A
SDC1	6382	genome.wustl.edu	37	2	20403762	20403762	+	Nonsense_Mutation	SNP	C	C	A	rs267599161		TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr2:20403762C>A	ENST00000254351.4	-	3	683	c.439G>T	c.(439-441)Gag>Tag	p.E147*	SDC1_ENST00000403076.1_Nonsense_Mutation_p.E147*|SDC1_ENST00000482879.1_Splice_Site|SDC1_ENST00000381150.1_Nonsense_Mutation_p.E147*	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	147					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GTGGCGGGCTCCTGGGCCGTG	0.687																																						dbGAP											0													87.0	87.0	87.0					2																	20403762		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.439G>T	2.37:g.20403762C>A	ENSP00000254351:p.Glu147*		D6W523|Q53QV0|Q546D3|Q96HB7	Nonsense_Mutation	SNP	pfam_Syndecan,smart_Neurexin-like	p.E147*	ENST00000254351.4	37	c.439	CCDS1697.1	2	.	.	.	.	.	.	.	.	.	.	C	9.048	0.991411	0.18966	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000403076;ENST00000429035	.	.	.	3.87	3.87	0.44632	.	0.840051	0.10365	N	0.683498	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.1701	11.6253	0.51142	0.0:1.0:0.0:0.0	.	.	.	.	X	147;147;147;155	.	ENSP00000254351:E147X	E	-	1	0	SDC1	20267243	0.914000	0.31030	0.938000	0.37757	0.022000	0.10575	2.033000	0.41136	2.456000	0.83038	0.561000	0.74099	GAG	SDC1	-	pfam_Syndecan	ENSG00000115884		0.687	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC1	HGNC	protein_coding	OTTHUMT00000207495.1	42	0.00	0	C	NM_001006946		20403762	20403762	-1	no_errors	ENST00000254351	ensembl	human	known	69_37n	nonsense	57	51.28	60	SNP	0.936	A
SLC5A12	159963	genome.wustl.edu	37	11	26720016	26720016	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr11:26720016G>C	ENST00000396005.3	-	7	1197	c.888C>G	c.(886-888)atC>atG	p.I296M	SLC5A12_ENST00000280467.6_Missense_Mutation_p.I296M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	296					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GAGAGTACATGATTAAGCCAG	0.478																																						dbGAP											0													129.0	116.0	120.0					11																	26720016		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.888C>G	11.37:g.26720016G>C	ENSP00000379326:p.Ile296Met		Q86UC7	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.I296M	ENST00000396005.3	37	c.888	CCDS7860.2	11	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462072	0.63513	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.87887	-2.31;-2.31;-2.31	6.07	0.441	0.16577	.	0.245249	0.39020	N	0.001489	D	0.84192	0.5418	L	0.51914	1.62	0.35631	D	0.810202	P;P	0.40230	0.481;0.708	P;P	0.50896	0.521;0.653	T	0.80964	-0.1147	10	0.54805	T	0.06	.	1.2046	0.01892	0.2354:0.15:0.4023:0.2123	.	296;296	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	M	296;296;108	ENSP00000379326:I296M;ENSP00000280467:I296M;ENSP00000435053:I108M	ENSP00000280467:I296M	I	-	3	3	SLC5A12	26676592	1.000000	0.71417	0.943000	0.38184	0.989000	0.77384	0.830000	0.27462	0.356000	0.24157	0.650000	0.86243	ATC	SLC5A12	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000148942		0.478	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	42	0.00	0	G	NM_178498		26720016	26720016	-1	no_errors	ENST00000396005	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	0.969	C
SLC6A11	6538	genome.wustl.edu	37	3	10960032	10960032	+	Silent	SNP	T	T	C			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr3:10960032T>C	ENST00000254488.2	+	8	1080	c.1014T>C	c.(1012-1014)tgT>tgC	p.C338C		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	338					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TCATGCTCTGTTGCCTGAACA	0.602																																						dbGAP											0													120.0	94.0	103.0					3																	10960032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1014T>C	3.37:g.10960032T>C			B2R6U6|Q8IYC9	Silent	SNP	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3,pfscan_Na/ntran_symport	p.C338	ENST00000254488.2	37	c.1014	CCDS2602.1	3																																																																																			SLC6A11	-	pfam_Na/ntran_symport,prints_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000132164		0.602	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	88	0.00	0	T	NM_014229		10960032	10960032	+1	no_errors	ENST00000254488	ensembl	human	known	69_37n	silent	137	15.95	26	SNP	0.876	C
SLITRK4	139065	genome.wustl.edu	37	X	142717799	142717799	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chrX:142717799G>T	ENST00000381779.4	-	2	1351	c.1126C>A	c.(1126-1128)Cct>Act	p.P376T	SLITRK4_ENST00000338017.4_Missense_Mutation_p.P376T|SLITRK4_ENST00000356928.1_Missense_Mutation_p.P376T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	376						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCATTTAAAGGTTTCGGTATC	0.438																																						dbGAP											0													205.0	167.0	180.0					X																	142717799		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1126C>A	X.37:g.142717799G>T	ENSP00000371198:p.Pro376Thr		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P376T	ENST00000381779.4	37	c.1126	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181377	0.57800	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.61627	0.09;0.09;0.09	5.38	5.38	0.77491	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74596	0.3737	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75593	-0.3264	10	0.51188	T	0.08	-6.1089	16.8528	0.85998	0.0:0.0:1.0:0.0	.	376	Q8IW52	SLIK4_HUMAN	T	376	ENSP00000371198:P376T;ENSP00000349400:P376T;ENSP00000336627:P376T	ENSP00000336627:P376T	P	-	1	0	SLITRK4	142545465	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.384000	0.81235	0.594000	0.82650	CCT	SLITRK4	-	NULL	ENSG00000179542		0.438	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	61	0.00	0	G	NM_173078		142717799	142717799	-1	no_errors	ENST00000338017	ensembl	human	known	69_37n	missense	49	36.36	28	SNP	1.000	T
SMAD1	4086	genome.wustl.edu	37	4	146467880	146467880	+	Silent	SNP	A	A	G			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr4:146467880A>G	ENST00000515385.1	+	5	1343	c.801A>G	c.(799-801)gaA>gaG	p.E267E	SMAD1_ENST00000394092.2_Silent_p.E267E|SMAD1_ENST00000302085.4_Silent_p.E267E			Q15797	SMAD1_HUMAN	SMAD family member 1	267					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CTTATGAGGAACCAAAACACT	0.448																																					Pancreas(182;1287 2092 10326 35158 50562)	dbGAP											0													201.0	189.0	193.0					4																	146467880		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.801A>G	4.37:g.146467880A>G			A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Silent	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.E267	ENST00000515385.1	37	c.801	CCDS3765.1	4																																																																																			SMAD1	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain	ENSG00000170365		0.448	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD1	HGNC	protein_coding	OTTHUMT00000365467.1	55	0.00	0	A	NM_005900		146467880	146467880	+1	no_errors	ENST00000302085	ensembl	human	known	69_37n	silent	29	23.68	9	SNP	0.998	G
SUDS3	64426	genome.wustl.edu	37	12	118839610	118839610	+	Silent	SNP	G	G	C			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr12:118839610G>C	ENST00000543473.1	+	8	972	c.660G>C	c.(658-660)ctG>ctC	p.L220L	SUDS3_ENST00000397564.2_Silent_p.L221L	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	220	Sin3 interaction domain (SID). {ECO:0000250|UniProtKB:Q8BR65}.				apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGAGGATCTGAGAACATTAA	0.338																																						dbGAP											0													195.0	176.0	182.0					12																	118839610		1826	4082	5908	-	-	-	SO:0001819	synonymous_variant	0			AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"""sin3A-associated protein, 45kDa"""	608250	"""suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"""			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.660G>C	12.37:g.118839610G>C			Q4KMQ5|Q8N6H0|Q9H8D2	Silent	SNP	pfam_Sds3	p.L221	ENST00000543473.1	37	c.663	CCDS44993.1	12																																																																																			SUDS3	-	pfam_Sds3	ENSG00000111707		0.338	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SUDS3	HGNC	protein_coding	OTTHUMT00000401504.1	61	0.00	0	G	NM_022491		118839610	118839610	+1	no_errors	ENST00000397564	ensembl	human	known	69_37n	silent	49	14.04	8	SNP	1.000	C
SULT1B1	27284	genome.wustl.edu	37	4	70620409	70620409	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr4:70620409G>A	ENST00000310613.3	-	3	553	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	86					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.L86I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AATCCAGGGAGAGTCATTTCC	0.303																																						dbGAP											1	Substitution - Missense(1)	lung(1)											97.0	105.0	102.0					4																	70620409		2203	4298	6501	-	-	-	SO:0001583	missense	0			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.256C>T	4.37:g.70620409G>A	ENSP00000308770:p.Leu86Phe		O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.L86F	ENST00000310613.3	37	c.256	CCDS3530.1	4	.	.	.	.	.	.	.	.	.	.	G	0.249	-1.007749	0.02112	.	.	ENSG00000173597	ENST00000310613;ENST00000510821;ENST00000512870	D;D;T	0.85556	-2.0;-2.0;4.51	4.9	-6.61	0.01818	Sulfotransferase domain (1);	2.933000	0.01489	N	0.016983	T	0.77329	0.4114	L	0.31926	0.97	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.63717	-0.6574	10	0.09843	T	0.71	.	16.3979	0.83621	0.0:0.7201:0.117:0.1629	.	86	O43704	ST1B1_HUMAN	F	86;86;67	ENSP00000308770:L86F;ENSP00000425464:L86F;ENSP00000427536:L67F	ENSP00000308770:L86F	L	-	1	0	SULT1B1	70654998	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.039000	0.01418	-1.060000	0.03189	-0.234000	0.12200	CTC	SULT1B1	-	pfam_Sulfotransferase_dom	ENSG00000173597		0.303	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1B1	HGNC	protein_coding	OTTHUMT00000251563.2	39	0.00	0	G	NM_014465		70620409	70620409	-1	no_errors	ENST00000310613	ensembl	human	known	69_37n	missense	20	41.18	14	SNP	0.000	A
TBC1D2B	23102	genome.wustl.edu	37	15	78316777	78316777	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr15:78316777delA	ENST00000300584.3	-	6	1190	c.1191delT	c.(1189-1191)cttfs	p.L398fs	TBC1D2B_ENST00000409931.3_Frame_Shift_Del_p.L398fs	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	398							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TTTGGTGCAGAAGCTCGAGCG	0.537																																						dbGAP											0													143.0	144.0	144.0					15																	78316777		2196	4293	6489	-	-	-	SO:0001589	frameshift_variant	0			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1191delT	15.37:g.78316777delA	ENSP00000300584:p.Leu398fs		A7MD42|Q8N1F9|Q9NXM0	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.L398fs	ENST00000300584.3	37	c.1191	CCDS45314.1	15																																																																																			TBC1D2B	-	NULL	ENSG00000167202		0.537	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	58	0.00	0	A	NM_015079		78316777	78316777	-1	no_errors	ENST00000300584	ensembl	human	known	69_37n	frame_shift_del	51	13.56	8	DEL	0.007	-
SV2B	9899	genome.wustl.edu	37	15	91769555	91769555	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr15:91769555G>A	ENST00000394232.1	+	2	532	c.62G>A	c.(61-63)cGc>cAc	p.R21H	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.R21H	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	21					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGCTATTACCGCGGCAATGAG	0.517																																						dbGAP											0													110.0	91.0	97.0					15																	91769555		2198	4298	6496	-	-	-	SO:0001583	missense	0			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.62G>A	15.37:g.91769555G>A	ENSP00000377779:p.Arg21His		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.R21H	ENST00000394232.1	37	c.62	CCDS10370.1	15	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589581	0.46214	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.35789	1.29;1.29	5.71	3.81	0.43845	.	0.265891	0.37857	N	0.001909	T	0.28863	0.0716	L	0.40543	1.245	0.37635	D	0.921838	B	0.06786	0.001	B	0.06405	0.002	T	0.11690	-1.0577	10	0.45353	T	0.12	-5.7109	10.3588	0.43980	0.0741:0.1358:0.7901:0.0	.	21	Q7L1I2	SV2B_HUMAN	H	21	ENSP00000377779:R21H;ENSP00000332818:R21H	ENSP00000332818:R21H	R	+	2	0	SV2B	89570559	0.969000	0.33509	0.773000	0.31616	0.807000	0.45602	1.319000	0.33655	0.745000	0.32763	0.563000	0.77884	CGC	SV2B	-	tigrfam_SV2_chordata	ENSG00000185518		0.517	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	HGNC	protein_coding	OTTHUMT00000313494.3	37	0.00	0	G	NM_014848		91769555	91769555	+1	no_errors	ENST00000330276	ensembl	human	known	69_37n	missense	33	41.07	23	SNP	0.938	A
TCP1	6950	genome.wustl.edu	37	6	160210569	160210569	+	5'UTR	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr6:160210569G>A	ENST00000321394.7	-	0	212				TCP1_ENST00000546023.1_5'UTR|TCP1_ENST00000420894.2_5'UTR|TCP1_ENST00000392168.2_5'UTR|MRPL18_ENST00000367034.4_5'Flank|TCP1_ENST00000544255.1_5'UTR	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1						'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCCCTCGGCCGACCGGCGACC	0.662																																						dbGAP											0													23.0	22.0	23.0					6																	160210569		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.-69C>T	6.37:g.160210569G>A			E1P5B2|Q15556|Q5TCM3	RNA	SNP	-	NULL	ENST00000321394.7	37	NULL	CCDS5269.1	6																																																																																			TCP1	-	-	ENSG00000120438		0.662	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP1	HGNC	protein_coding	OTTHUMT00000042917.2	51	0.00	0	G	NM_030752		160210569	160210569	-1	no_errors	ENST00000543532	ensembl	human	known	69_37n	rna	16	56.76	21	SNP	0.000	A
TEX13A	56157	genome.wustl.edu	37	X	104464756	104464756	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chrX:104464756G>A	ENST00000413579.1	-	2	437	c.326C>T	c.(325-327)tCa>tTa	p.S109L	TEX13A_ENST00000372575.1_Missense_Mutation_p.S109L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.S109L			Q9BXU3	TX13A_HUMAN	testis expressed 13A	109							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CTTCAGGTCTGATGCCAAGGC	0.622																																						dbGAP											0													32.0	33.0	33.0					X																	104464756		2186	4264	6450	-	-	-	SO:0001583	missense	0			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.326C>T	X.37:g.104464756G>A	ENSP00000399753:p.Ser109Leu		B1B1G8|Q32NB6	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfscan_Znf_RanBP2	p.S109L	ENST00000413579.1	37	c.326		X	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263134	0.23051	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.84	1.92	0.25849	.	1.783270	0.04011	N	0.298236	T	0.31827	0.0809	.	.	.	0.09310	N	1	B;B	0.31599	0.33;0.33	B;B	0.27796	0.083;0.083	T	0.30592	-0.9973	8	0.62326	D	0.03	.	6.1732	0.20429	0.0:0.0:0.7007:0.2993	.	109;109	C9JWK0;Q9BXU3	.;TX13A_HUMAN	L	109	.	ENSP00000361656:S109L	S	-	2	0	TEX13A	104351412	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.372000	0.20467	0.564000	0.29238	0.506000	0.49869	TCA	TEX13A	-	NULL	ENSG00000133149		0.622	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	TEX13A	HGNC	protein_coding		58	0.00	0	G	NM_031274		104464756	104464756	-1	no_errors	ENST00000413579	ensembl	human	known	69_37n	missense	37	22.92	11	SNP	0.002	A
TFR2	7036	genome.wustl.edu	37	7	100230904	100230904	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr7:100230904delG	ENST00000462107.1	-	6	961	c.674delC	c.(673-675)ccgfs	p.P225fs	TFR2_ENST00000544242.1_5'Flank|TFR2_ENST00000431692.1_Frame_Shift_Del_p.P225fs|TFR2_ENST00000223051.3_Frame_Shift_Del_p.P225fs			Q9UP52	TFR2_HUMAN	transferrin receptor 2	225					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GTCCTCCAGCGGCAGCTGCTC	0.716																																						dbGAP											0													32.0	37.0	35.0					7																	100230904		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.674delC	7.37:g.100230904delG	ENSP00000420525:p.Pro225fs		A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Frame_Shift_Del	DEL	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.P225fs	ENST00000462107.1	37	c.674	CCDS34707.1	7																																																																																			TFR2	-	NULL	ENSG00000106327		0.716	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	HGNC	protein_coding	OTTHUMT00000356392.3	17	0.00	0	G	NM_003227		100230904	100230904	-1	no_errors	ENST00000223051	ensembl	human	known	69_37n	frame_shift_del	3	40.00	2	DEL	0.003	-
TP53	7157	genome.wustl.edu	37	17	7577077	7577077	+	Silent	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr17:7577077C>T	ENST00000269305.4	-	8	1050	c.861G>A	c.(859-861)gaG>gaA	p.E287E	TP53_ENST00000455263.2_Silent_p.E287E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Silent_p.E287E|TP53_ENST00000445888.2_Silent_p.E287E|TP53_ENST00000420246.2_Silent_p.E287E	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	287	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (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.N288fs*13(17)|p.0?(8)|p.E287E(5)|p.?(2)|p.E286fs*17(2)|p.E287D(2)|p.R283fs*16(2)|p.N288fs*18(1)|p.L265_K305del41(1)|p.N288fs*15(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	TGCGGAGATTCTCTTCCTCTG	0.567		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"""	49	Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(6)|Substitution - coding silent(5)|Unknown(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(20)|large_intestine(4)|urinary_tract(4)|breast(4)|bone(4)|liver(4)|stomach(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(1)|lung(1)											99.0	85.0	89.0					17																	7577077		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.861G>A	17.37:g.7577077C>T			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	Silent	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.E287	ENST00000269305.4	37	c.861	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	58	0.00	0	C	NM_000546		7577077	7577077	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	silent	19	54.76	23	SNP	0.910	T
TP53	7157	genome.wustl.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr17:7577085C>T	ENST00000269305.4	-	8	1042	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000420246.2_Missense_Mutation_p.E285K	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	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	TTCTCTTCCTCTGTGCGCCGG	0.562		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"""	165	Substitution - Missense(115)|Substitution - Nonsense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	urinary_tract(53)|breast(18)|large_intestine(15)|lung(11)|upper_aerodigestive_tract(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(6)|oesophagus(6)|liver(6)|skin(5)|prostate(4)|bone(4)|biliary_tract(3)|ovary(3)|adrenal_gland(1)|soft_tissue(1)|eye(1)|pancreas(1)|thyroid(1)	GRCh37	CM995136	TP53	M	rs112431538						91.0	78.0	82.0					17																	7577085		2203	4300	6503	-	-	-	SO:0001583	missense	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.853G>A	17.37:g.7577085C>T	ENSP00000269305:p.Glu285Lys		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	Missense_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.E285K	ENST00000269305.4	37	c.853	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703759	0.88924	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.89904	3.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.994;0.983;0.994;0.998	D	0.96661	0.9489	10	0.87932	D	0	-38.0538	15.807	0.78520	0.0:1.0:0.0:0.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	285;285;285;285;285;274;153	ENSP00000352610:E285K;ENSP00000269305:E285K;ENSP00000398846:E285K;ENSP00000391127:E285K;ENSP00000391478:E285K;ENSP00000425104:E153K	ENSP00000269305:E285K	E	-	1	0	TP53	7517810	1.000000	0.71417	0.900000	0.35374	0.716000	0.41182	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	54	0.00	0	C	NM_000546		7577085	7577085	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	18	56.10	23	SNP	0.995	T
TRPC6	7225	genome.wustl.edu	37	11	101342870	101342870	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr11:101342870C>G	ENST00000344327.3	-	8	2627	c.2203G>C	c.(2203-2205)Gag>Cag	p.E735Q	TRPC6_ENST00000348423.4_Missense_Mutation_p.E619Q|TRPC6_ENST00000532133.1_Missense_Mutation_p.E657Q|TRPC6_ENST00000360497.4_Missense_Mutation_p.E680Q	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	735					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GATTATACCTCAATTTCCTGG	0.353																																					Colon(166;1315 1927 11094 12848 34731)	dbGAP											0													104.0	105.0	105.0					11																	101342870		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2203G>C	11.37:g.101342870C>G	ENSP00000340913:p.Glu735Gln		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.E735Q	ENST00000344327.3	37	c.2203	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739941	0.89573	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.81	5.81	0.92471	.	0.105242	0.64402	D	0.000001	D	0.89798	0.6819	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.88680	0.3201	10	0.48119	T	0.1	-24.9376	20.0784	0.97758	0.0:1.0:0.0:0.0	.	680;619;735	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	Q	735;657;619;680	ENSP00000340913:E735Q;ENSP00000435574:E657Q;ENSP00000343672:E619Q;ENSP00000353687:E680Q	ENSP00000340913:E735Q	E	-	1	0	TRPC6	100848080	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	GAG	TRPC6	-	prints_TRPC_channel,tigrfam_TRP_channel	ENSG00000137672		0.353	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	22	0.00	0	C	NM_004621		101342870	101342870	-1	no_errors	ENST00000344327	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	1.000	G
TRPM3	80036	genome.wustl.edu	37	9	73151240	73151240	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr9:73151240C>T	ENST00000377110.3	-	25	4996	c.4753G>A	c.(4753-4755)Gag>Aag	p.E1585K	TRPM3_ENST00000360823.2_Missense_Mutation_p.E1447K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1457K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1457K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1444K|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1444K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1447K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1434K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1589K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1444K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1612K			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1610					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCTTCTCGCTCTGGATGGCAG	0.542																																						dbGAP											0													131.0	123.0	125.0					9																	73151240		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4753G>A	9.37:g.73151240C>T	ENSP00000366314:p.Glu1585Lys		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E1612K	ENST00000377110.3	37	c.4834	CCDS43835.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.94|17.94	3.512633|3.512633	0.64522|0.64522	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T|.	0.69435|.	-0.25;-0.39;-0.39;-0.38;-0.26;-0.38;-0.4;-0.39;-0.39;-0.28|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61236|0.61236	0.2331|0.2331	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D;D;D|.	0.67145|.	0.996;0.994;0.993;0.993;0.996;0.996;0.993|.	D;P;D;D;D;D;D|.	0.76071|.	0.987;0.831;0.971;0.971;0.987;0.987;0.971|.	T|T	0.52909|0.52909	-0.8512|-0.8512	10|5	0.44086|.	T|.	0.13|.	-25.6379|-25.6379	20.2182|20.2182	0.98305|0.98305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1585;1575;1589;1447;1444;1557;1444|.	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.|.	K|K	1585;1457;1447;1444;1589;1444;1444;1457;1447;1612|1433	ENSP00000366314:E1585K;ENSP00000366310:E1457K;ENSP00000354066:E1447K;ENSP00000366309:E1444K;ENSP00000350140:E1589K;ENSP00000386127:E1444K;ENSP00000379581:E1444K;ENSP00000379587:E1457K;ENSP00000350791:E1447K;ENSP00000389542:E1612K|.	ENSP00000350140:E1589K|.	E|R	-|-	1|2	0|0	TRPM3|TRPM3	72341060|72341060	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.968000|0.968000	0.65278|0.65278	7.294000|7.294000	0.78760|0.78760	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	GAG|AGA	TRPM3	-	NULL	ENSG00000083067		0.542	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214158.3	86	0.00	0	C	NM_206945		73151240	73151240	-1	no_errors	ENST00000423814	ensembl	human	known	69_37n	missense	78	15.22	14	SNP	1.000	T
TTC21A	199223	genome.wustl.edu	37	3	39180104	39180104	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr3:39180104T>C	ENST00000431162.2	+	28	4009	c.3875T>C	c.(3874-3876)aTc>aCc	p.I1292T	TTC21A_ENST00000440121.1_Missense_Mutation_p.I1244T|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000301819.6_Missense_Mutation_p.I1293T			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1292										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCCATTGAAATCTGCAACGAT	0.527																																						dbGAP											0													115.0	112.0	113.0					3																	39180104		2002	4168	6170	-	-	-	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3875T>C	3.37:g.39180104T>C	ENSP00000398211:p.Ile1292Thr		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I1293T	ENST00000431162.2	37	c.3878	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073500	0.36566	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.76839	-1.05;-1.05;-1.05	5.14	5.14	0.70334	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.186635	0.33127	N	0.005260	T	0.77232	0.4100	L	0.43757	1.38	0.33032	D	0.530284	P;P;B	0.51240	0.943;0.493;0.361	P;B;B	0.50490	0.642;0.178;0.086	T	0.82489	-0.0432	10	0.38643	T	0.18	-12.8452	13.9224	0.63940	0.0:0.0:0.0:1.0	.	1244;1293;1292	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	T	1293;1275;1292;1244	ENSP00000301819:I1293T;ENSP00000398211:I1292T;ENSP00000410882:I1244T	ENSP00000301819:I1293T	I	+	2	0	TTC21A	39155108	1.000000	0.71417	0.995000	0.50966	0.177000	0.22998	7.627000	0.83176	1.925000	0.55765	0.459000	0.35465	ATC	TTC21A	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000168026		0.527	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	55	0.00	0	T	NM_145755		39180104	39180104	+1	no_errors	ENST00000301819	ensembl	human	known	69_37n	missense	40	23.08	12	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179499204	179499204	+	Missense_Mutation	SNP	C	C	T	rs72650080		TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr2:179499204C>T	ENST00000591111.1	-	180	37605	c.37381G>A	c.(37381-37383)Gct>Act	p.A12461T	TTN_ENST00000342175.6_Missense_Mutation_p.A5229T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A5162T|TTN_ENST00000460472.2_Missense_Mutation_p.A5037T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A14102T|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A11534T			Q8WZ42	TITIN_HUMAN	titin	12461					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)			TTTCCATCAGCGATGATATCA	0.418																																						dbGAP											0													84.0	85.0	85.0					2																	179499204		1859	4110	5969	-	-	-	SO:0001583	missense	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.37381G>A	2.37:g.179499204C>T	ENSP00000465570:p.Ala12461Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A11534T	ENST00000591111.1	37	c.34600		2	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216022	0.39201	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	6.17	1.35	0.21983	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49218	0.1544	N	0.25485	0.75	0.24627	N	0.993641	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.42172	-0.9467	9	0.87932	D	0	.	4.9072	0.13804	0.2293:0.5266:0.0:0.2441	.	5037;5162;5229;12461	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	11534;5037;5229;5162;5037	ENSP00000343764:A11534T;ENSP00000434586:A5037T;ENSP00000340554:A5229T;ENSP00000352154:A5162T	ENSP00000340554:A5229T	A	-	1	0	TTN	179207449	1.000000	0.71417	0.715000	0.30552	0.964000	0.63967	1.610000	0.36869	-0.027000	0.13873	0.655000	0.94253	GCT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	33	0.00	0	C	NM_133378		179499204	179499204	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	0.925	T
USH2A	7399	genome.wustl.edu	37	1	215799148	215799148	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr1:215799148G>T	ENST00000307340.3	-	72	15970	c.15584C>A	c.(15583-15585)aCc>aAc	p.T5195N	USH2A_ENST00000366943.2_Missense_Mutation_p.T5219N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5195					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTGAATGTGGTGCGTTCCTT	0.463										HNSCC(13;0.011)																												dbGAP											0													379.0	300.0	327.0					1																	215799148		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15584C>A	1.37:g.215799148G>T	ENSP00000305941:p.Thr5195Asn		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T5219N	ENST00000307340.3	37	c.15656	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463142	0.84425	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53640	0.61;0.61	5.93	5.93	0.95920	.	0.000000	0.43919	U	0.000508	T	0.62816	0.2459	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.63193	-0.6692	10	0.87932	D	0	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	5195	O75445	USH2A_HUMAN	N	5195;5219	ENSP00000305941:T5195N;ENSP00000355910:T5219N	ENSP00000305941:T5195N	T	-	2	0	USH2A	213865771	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	7.333000	0.79214	2.818000	0.97014	0.591000	0.81541	ACC	USH2A	-	NULL	ENSG00000042781		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	62	0.00	0	G	NM_007123		215799148	215799148	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	54	22.86	16	SNP	1.000	T
WNK1	65125	genome.wustl.edu	37	12	970325	970325	+	Silent	SNP	C	C	G			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr12:970325C>G	ENST00000315939.6	+	7	2410	c.1767C>G	c.(1765-1767)ctC>ctG	p.L589L	WNK1_ENST00000535572.1_Silent_p.L589L|WNK1_ENST00000530271.2_Silent_p.L589L|WNK1_ENST00000537687.1_Silent_p.L589L|WNK1_ENST00000340908.4_Silent_p.L182L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	589					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGAGCAGTCTCAAACAGCAGG	0.473																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													109.0	97.0	101.0					12																	970325		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1767C>G	12.37:g.970325C>G			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L589	ENST00000315939.6	37	c.1767	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	43	0.00	0	C	NM_018979		970325	970325	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	silent	18	30.77	8	SNP	0.681	G
ZBTB8OS	339487	genome.wustl.edu	37	1	33099302	33099302	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A5J0-01A-11D-A27P-09	TCGA-BH-A5J0-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab	213426e8-ddbf-4920-813e-74f7f68823fe	g.chr1:33099302G>A	ENST00000468695.1	-	4	325	c.307C>T	c.(307-309)Cac>Tac	p.H103Y	ZBTB8OS_ENST00000492007.1_Intron|ZBTB8OS_ENST00000373501.2_Missense_Mutation_p.H91Y|ZBTB8OS_ENST00000341885.5_Intron	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	91					tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	extracellular vesicular exosome (GO:0070062)|tRNA-splicing ligase complex (GO:0072669)	metal ion binding (GO:0046872)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCCAAAAAGTGAAACAGAAGA	0.318																																						dbGAP											0													53.0	56.0	55.0					1																	33099302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY151084	CCDS365.1	1p35.1	2010-09-30			ENSG00000176261	ENSG00000176261			24094	protein-coding gene	gene with protein product	"""archease"""	615891				12477932	Standard	NM_178547		Approved	ARCH	uc001bvp.3	Q8IWT0	OTTHUMG00000007856	ENST00000468695.1:c.307C>T	1.37:g.33099302G>A	ENSP00000417677:p.His103Tyr		Q5TGK5|Q6PDA1|Q8IWS9|Q8NEV6|Q8NEV7	Missense_Mutation	SNP	pfam_Archease_dom,superfamily_Archease_dom	p.H103Y	ENST00000468695.1	37	c.307	CCDS365.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.61|15.61	2.884638|2.884638	0.51908|0.51908	.|.	.|.	ENSG00000176261|ENSG00000176261	ENST00000468695;ENST00000373501|ENST00000436661	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.042928|.	0.85682|.	D|.	0.000000|.	T|T	0.82235|0.82235	0.4993|0.4993	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	B;B|.	0.19583|.	0.037;0.026|.	B;B|.	0.18561|.	0.018;0.022|.	T|T	0.83208|0.83208	-0.0075|-0.0075	9|5	0.66056|.	D|.	0.02|.	-16.3216|-16.3216	18.5382|18.5382	0.91018|0.91018	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	91;103|.	Q8IWT0-2;A8K0B5|.	.;.|.	Y|L	103;91|101	.|.	ENSP00000362600:H91Y|.	H|S	-|-	1|2	0|0	ZBTB8OS|ZBTB8OS	32871889|32871889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.536000|4.536000	0.60636|0.60636	2.699000|2.699000	0.92147|0.92147	0.655000|0.655000	0.94253|0.94253	CAC|TCA	ZBTB8OS	-	pfam_Archease_dom,superfamily_Archease_dom	ENSG00000176261		0.318	ZBTB8OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB8OS	HGNC	protein_coding	OTTHUMT00000021669.3	54	0.00	0	G	NM_178547		33099302	33099302	-1	no_errors	ENST00000468695	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	1.000	A
