#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AGL	178	hgsc.bcm.edu;ucsc.edu	37	1	100349949	100349949	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr1:100349949G>T	ENST00000294724.4	+	19	2966	c.2488G>T	c.(2488-2490)Gaa>Taa	p.E830*	AGL_ENST00000370161.2_Nonsense_Mutation_p.E814*|AGL_ENST00000361915.3_Nonsense_Mutation_p.E830*|AGL_ENST00000370165.3_Nonsense_Mutation_p.E830*|AGL_ENST00000370163.3_Nonsense_Mutation_p.E830*|AGL_ENST00000361522.4_Nonsense_Mutation_p.E813*|AGL_ENST00000361302.3_Nonsense_Mutation_p.E814*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	830					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGGGCCCAATGAATATATTCA	0.284																																																	0													45.0	49.0	48.0					1																	100349949		2196	4283	6479	SO:0001587	stop_gained	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2488G>T	1.37:g.100349949G>T	ENSP00000294724:p.Glu830*	Somatic		WXS	SOLID	Phase_I	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Nonsense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	42	9.592340	0.99214	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.0425	0.97596	0.0:0.0:1.0:0.0	.	.	.	.	X	830;830;830;830;814;814;813	.	ENSP00000294724:E830X	E	+	1	0	AGL	100122537	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.405000	0.97313	2.745000	0.94114	0.650000	0.86243	GAA		0.284	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1		NM_000028	
AMN	81693	hgsc.bcm.edu	37	14	103390308	103390308	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr14:103390308T>A	ENST00000299155.5	+	3	232	c.199T>A	c.(199-201)Tca>Aca	p.S67T		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	67					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACGCCGTCTCAGACATGGT	0.647																																																	0													95.0	90.0	92.0					14																	103390308		2203	4300	6503	SO:0001583	missense	81693			AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"""amnionless homolog (mouse)"""			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.199T>A	14.37:g.103390308T>A	ENSP00000299155:p.Ser67Thr	Somatic		WXS	SOLID	Phase_I	Q6UX83	Missense_Mutation	SNP	ENST00000299155.5	37	CCDS9977.1	.	.	.	.	.	.	.	.	.	.	T	3.870	-0.028067	0.07589	.	.	ENSG00000166126	ENST00000299155;ENST00000541086	D	0.88818	-2.43	3.14	1.89	0.25635	.	0.777114	0.11425	U	0.565427	T	0.78381	0.4274	L	0.43923	1.385	0.09310	N	1	P	0.42518	0.782	B	0.34722	0.188	T	0.66156	-0.5994	10	0.06236	T	0.91	.	6.4487	0.21892	0.0:0.0:0.2514:0.7486	.	67	Q9BXJ7	AMNLS_HUMAN	T	67;13	ENSP00000299155:S67T	ENSP00000299155:S67T	S	+	1	0	AMN	102460061	0.000000	0.05858	0.053000	0.19242	0.122000	0.20287	-0.026000	0.12392	0.331000	0.23511	0.260000	0.18958	TCA		0.647	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			
BRD8	10902	hgsc.bcm.edu;ucsc.edu	37	5	137498825	137498825	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr5:137498825G>A	ENST00000254900.5	-	15	2452	c.2081C>T	c.(2080-2082)tCa>tTa	p.S694L	BRD8_ENST00000411594.2_Missense_Mutation_p.S697L|BRD8_ENST00000230901.5_Missense_Mutation_p.S767L|BRD8_ENST00000515014.1_Intron|BRD8_ENST00000402931.1_Missense_Mutation_p.S694L|BRD8_ENST00000455658.2_Missense_Mutation_p.S653L	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	694					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCACAACTGTGAAGAAGCAGG	0.493																																																	0													147.0	127.0	134.0					5																	137498825		2203	4300	6503	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2081C>T	5.37:g.137498825G>A	ENSP00000254900:p.Ser694Leu	Somatic		WXS	SOLID	Phase_I	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.282355|5.282355	0.95489|0.95489	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000441656|ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898	.|T;T;T;T;T;T;T	.|0.37058	.|1.65;1.23;1.23;1.37;1.34;1.22;1.34	5.39|5.39	5.39|5.39	0.77823|0.77823	.|Bromodomain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51500|0.51500	0.1678|0.1678	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;P;D;D	.|0.89917	.|0.997;0.974;0.997;0.995;0.999;0.947;1.0;0.999	.|D;P;P;D;D;P;D;D	.|0.85130	.|0.951;0.782;0.886;0.972;0.961;0.675;0.997;0.991	T|T	0.50988|0.50988	-0.8762|-0.8762	5|10	.|0.66056	.|D	.|0.02	-3.0372|-3.0372	18.3245|18.3245	0.90248|0.90248	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|653;678;473;767;697;588;767;694	.|F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.|.;.;.;.;.;.;.;BRD8_HUMAN	Y|L	688|694;723;692;767;694;697;588;653;162	.|ENSP00000254900:S694L;ENSP00000398067:S723L;ENSP00000398873:S692L;ENSP00000230901:S767L;ENSP00000384845:S694L;ENSP00000394330:S697L;ENSP00000408396:S653L	.|ENSP00000230901:S767L	H|S	-|-	1|2	0|0	BRD8|BRD8	137526724|137526724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.156000|9.156000	0.94705|0.94705	2.808000|2.808000	0.96608|0.96608	0.561000|0.561000	0.74099|0.74099	CAC|TCA		0.493	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3		NM_006696	
CNGA3	1261	hgsc.bcm.edu	37	2	98994251	98994251	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr2:98994251A>C	ENST00000272602.2	+	2	242	c.203A>C	c.(202-204)cAg>cCg	p.Q68P	CNGA3_ENST00000409937.1_Missense_Mutation_p.Q17P|CNGA3_ENST00000436404.2_Missense_Mutation_p.Q68P|CNGA3_ENST00000393504.1_Missense_Mutation_p.Q68P			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	68					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTCACCGGCCAGGGGATCGCC	0.602																																																	0													25.0	23.0	24.0					2																	98994251		2203	4300	6503	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.203A>C	2.37:g.98994251A>C	ENSP00000272602:p.Gln68Pro	Somatic		WXS	SOLID	Phase_I	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.919845	0.33908	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	T;T;T;D	0.98876	0.81;0.81;0.81;-5.2	5.01	-5.57	0.02521	.	10.923100	0.00357	N	0.000029	D	0.96253	0.8778	L	0.60455	1.87	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	D	0.89202	0.3558	10	0.31617	T	0.26	.	2.6542	0.05008	0.2413:0.4189:0.2253:0.1145	.	17;68;68	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	P	68;68;68;17	ENSP00000377140:Q68P;ENSP00000410070:Q68P;ENSP00000272602:Q68P;ENSP00000386761:Q17P	ENSP00000272602:Q68P	Q	+	2	0	CNGA3	98360683	0.026000	0.19158	0.000000	0.03702	0.014000	0.08584	-0.337000	0.07852	-0.992000	0.03472	0.533000	0.62120	CAG		0.602	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1		NM_001298	
CNGB1	1258	hgsc.bcm.edu	37	16	57951275	57951275	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr16:57951275A>T	ENST00000251102.8	-	21	2123	c.2063T>A	c.(2062-2064)aTc>aAc	p.I688N	CNGB1_ENST00000564448.1_Missense_Mutation_p.I682N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	688					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCAGTGGTGGATGTTGTCCGG	0.557																																					Colon(156;1293 1853 16336 28962 38659)												0													100.0	106.0	104.0					16																	57951275		2090	4218	6308	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2063T>A	16.37:g.57951275A>T	ENSP00000251102:p.Ile688Asn	Somatic		WXS	SOLID	Phase_I	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.742766	0.49151	.	.	ENSG00000070729	ENST00000251102	T	0.11385	2.78	5.25	5.25	0.73442	.	0.204955	0.39909	N	0.001231	T	0.14270	0.0345	L	0.58354	1.805	0.80722	D	1	B;B	0.26445	0.03;0.149	B;B	0.24394	0.036;0.053	T	0.01702	-1.1292	10	0.59425	D	0.04	.	14.7796	0.69756	1.0:0.0:0.0:0.0	.	60;688	Q14028-2;Q14028	.;CNGB1_HUMAN	N	688	ENSP00000251102:I688N	ENSP00000251102:I688N	I	-	2	0	CNGB1	56508776	1.000000	0.71417	0.996000	0.52242	0.438000	0.31896	9.087000	0.94110	2.333000	0.79357	0.533000	0.62120	ATC		0.557	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2		NM_001297	
DDX11	1663	hgsc.bcm.edu	37	12	31253615	31253616	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr12:31253615_31253616insTG	ENST00000407793.2	+	19	2173_2174	c.1922_1923insTG	c.(1921-1926)gctgagfs	p.E642fs	DDX11_ENST00000350437.4_Frame_Shift_Ins_p.E642fs|DDX11_ENST00000545668.1_Frame_Shift_Ins_p.E642fs|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Frame_Shift_Ins_p.E642fs|DDX11_ENST00000228264.6_Frame_Shift_Ins_p.E616fs	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	642					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGGGTGGAAGCTGAGCGCGTGG	0.629										Multiple Myeloma(12;0.14)																																							0																																										SO:0001589	frameshift_variant	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1923_1924dupTG	12.37:g.31253616_31253617dupTG	ENSP00000384703:p.Glu642fs	Somatic		WXS	SOLID	Phase_I	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Frame_Shift_Ins	INS	ENST00000407793.2	37	CCDS44856.1																																																																																				0.629	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1		NM_030653	
EPHX4	253152	hgsc.bcm.edu	37	1	92518079	92518079	+	Silent	SNP	C	C	T			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr1:92518079C>T	ENST00000370383.4	+	6	819	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	241						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTTGAAACATCTGTTTACCAG	0.348																																					GBM(140;473 1857 5172 22066 49719)												0													58.0	55.0	56.0					1																	92518079		2203	4300	6503	SO:0001819	synonymous_variant	253152			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.721C>T	1.37:g.92518079C>T		Somatic		WXS	SOLID	Phase_I	Q8NCC6	Silent	SNP	ENST00000370383.4	37	CCDS736.1																																																																																				0.348	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1		NM_173567	
EYA4	2070	hgsc.bcm.edu;ucsc.edu	37	6	133804175	133804175	+	Silent	SNP	G	G	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr6:133804175G>A	ENST00000367895.5	+	13	1577	c.1113G>A	c.(1111-1113)gtG>gtA	p.V371V	EYA4_ENST00000452339.2_Silent_p.V317V|EYA4_ENST00000525849.1_Silent_p.V348V|EYA4_ENST00000430974.2_Silent_p.V323V|EYA4_ENST00000431403.2_Silent_p.V371V|EYA4_ENST00000355167.3_Silent_p.V371V|EYA4_ENST00000531901.1_Silent_p.V377V|EYA4_ENST00000355286.6_Silent_p.V348V	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	371					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTCAGCGTGTGTTTGTCTGGG	0.368																																					Melanoma(57;398 1237 3528 4702 7415)												0													125.0	120.0	122.0					6																	133804175		2203	4300	6503	SO:0001819	synonymous_variant	2070			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1113G>A	6.37:g.133804175G>A		Somatic		WXS	SOLID	Phase_I	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	CCDS5165.1																																																																																				0.368	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2		NM_004100	
FCN3	8547	hgsc.bcm.edu	37	1	27699671	27699671	+	Missense_Mutation	SNP	G	G	A	rs28357092|rs532781899	byFrequency	TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr1:27699671G>A	ENST00000270879.4	-	5	354	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	FCN3_ENST00000354982.2_Missense_Mutation_p.L106F	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	117	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGACTGGGAGGGCCCTGCCC	0.632																																																	0			GRCh37	CD052457	FCN3	D							51.0	57.0	55.0					1																	27699671		2202	4300	6502	SO:0001583	missense	8547			D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.349C>T	1.37:g.27699671G>A	ENSP00000270879:p.Leu117Phe	Somatic		WXS	SOLID	Phase_I	Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	CCDS300.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406385	0.62288	.	.	ENSG00000142748	ENST00000270879;ENST00000354982	T;T	0.78707	-1.2;-1.2	4.26	3.34	0.38264	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.473501	0.17285	N	0.179868	T	0.74207	0.3686	N	0.10733	0.035	0.33151	D	0.545652	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.77608	-0.2524	10	0.44086	T	0.13	.	10.1946	0.43047	0.0996:0.0:0.9004:0.0	.	106;117	Q6UXM4;O75636	.;FCN3_HUMAN	F	117;106	ENSP00000270879:L117F;ENSP00000347077:L106F	ENSP00000270879:L117F	L	-	1	0	FCN3	27572258	0.002000	0.14202	0.029000	0.17559	0.987000	0.75469	0.574000	0.23714	1.010000	0.39314	0.655000	0.94253	CTC		0.632	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			
GATA5	140628	hgsc.bcm.edu	37	20	61040459	61040459	+	Silent	SNP	G	G	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr20:61040459G>A	ENST00000252997.2	-	6	1036	c.975C>T	c.(973-975)gcC>gcT	p.A325A		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	325					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CTTTCGAAGTGGCTGCTGAGC	0.662																																																	0													30.0	30.0	30.0					20																	61040459		2201	4294	6495	SO:0001819	synonymous_variant	140628			BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"""GATA zinc finger domain containing"""	15802	protein-coding gene	gene with protein product		611496	"""GATA-binding protein 5"""			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.975C>T	20.37:g.61040459G>A		Somatic		WXS	SOLID	Phase_I	D9ZGF7|Q17RE2|Q86VU4	Silent	SNP	ENST00000252997.2	37	CCDS13499.1																																																																																				0.662	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2		NM_080473	
HDAC4	9759	hgsc.bcm.edu	37	2	240011717	240011717	+	Silent	SNP	T	T	C	rs61752234	byFrequency	TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr2:240011717T>C	ENST00000345617.3	-	18	3152	c.2361A>G	c.(2359-2361)acA>acG	p.T787T	HDAC4_ENST00000543185.1_Silent_p.T371T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	787	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCAGCTCCCCTGTGGCCACCT	0.667													C|||	169	0.033746	0.0015	0.1066	5008	,	,		15025	0.0367		0.0427	False		,,,				2504	0.0133																0								C		46,4360	820.8+/-416.4	1,44,2158	74.0	73.0	73.0		2361	-8.0	0.3	2	dbSNP_129	73	379,8221	801.6+/-407.4	10,359,3931	no	coding-synonymous	HDAC4	NM_006037.3		11,403,6089	CC,CT,TT		4.407,1.044,3.2677		787/1085	240011717	425,12581	2203	4300	6503	SO:0001819	synonymous_variant	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2361A>G	2.37:g.240011717T>C		Somatic		WXS	SOLID	Phase_I	Q9UND6	Silent	SNP	ENST00000345617.3	37	CCDS2529.1																																																																																				0.667	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2		NM_006037	
IFT140	9742	hgsc.bcm.edu	37	16	1614096	1614096	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr16:1614096C>T	ENST00000426508.2	-	17	2332	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	657					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGCCGGGGCTCACTCTGGTCC	0.587																																																	0													53.0	62.0	59.0					16																	1614096		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1969G>A	16.37:g.1614096C>T	ENSP00000406012:p.Glu657Lys	Somatic		WXS	SOLID	Phase_I	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988241	0.74589	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	D	0.83506	-1.73	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.91740	0.7388	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.972;0.983	D	0.92710	0.6182	10	0.66056	D	0.02	.	18.6071	0.91271	0.0:1.0:0.0:0.0	.	657;382	Q96RY7;B4DR58	IF140_HUMAN;.	K	657	ENSP00000406012:E657K	ENSP00000380562:E657K	E	-	1	0	IFT140	1554097	1.000000	0.71417	0.852000	0.33557	0.011000	0.07611	7.044000	0.76578	2.407000	0.81776	0.467000	0.42956	GAG		0.587	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2		NM_014714	
LAD1	3898	hgsc.bcm.edu	37	1	201356002	201356004	+	In_Frame_Del	DEL	CCA	CCA	-	rs78190062|rs552300739|rs35119736|rs398053706|rs386638482	byFrequency	TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	CCA	CCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr1:201356002_201356004delCCA	ENST00000391967.2	-	3	786_788	c.485_487delTGG	c.(484-489)gtgggc>ggc	p.V162del	LAD1_ENST00000367313.3_In_Frame_Del_p.V176del	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	162						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGCTCCCTGCCCACCAAGCTCTC	0.586														301	0.0601038	0.0666	0.0504	5008	,	,		15375	0.0575		0.0686	False		,,,				2504	0.0521																0										826,3440		92,642,1399						-0.4	0.0		dbSNP_131	54	717,7533		40,637,3448	no	coding	LAD1	NM_005558.3		132,1279,4847	A1A1,A1R,RR		8.6909,19.3624,12.3282				1543,10973				SO:0001651	inframe_deletion	3898			U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.485_487delTGG	1.37:g.201356005_201356007delCCA	ENSP00000375829:p.Val162del	Somatic		WXS	SOLID	Phase_I	O95614|Q96GD8	In_Frame_Del	DEL	ENST00000391967.2	37	CCDS1410.1																																																																																				0.586	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1		NM_005558	
MEIS3	56917	hgsc.bcm.edu	37	19	47912501	47912501	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr19:47912501T>A	ENST00000558555.1	-	8	900	c.713A>T	c.(712-714)gAc>gTc	p.D238V	MEIS3_ENST00000331559.5_Missense_Mutation_p.D221V|MEIS3_ENST00000561096.1_Missense_Mutation_p.D326V|MEIS3_ENST00000559524.1_Missense_Mutation_p.D238V|MEIS3_ENST00000441740.2_Missense_Mutation_p.D221V|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561293.1_Missense_Mutation_p.D238V			Q99687	MEIS3_HUMAN	Meis homeobox 3	238	Ser/Thr-rich.			D -> V (in Ref. 5). {ECO:0000305}.	negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTCCAGCCCGTCTCCTGAGGG	0.607																																																	0													36.0	28.0	31.0					19																	47912501		2203	4299	6502	SO:0001583	missense	56917			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.713A>T	19.37:g.47912501T>A	ENSP00000454073:p.Asp238Val	Somatic		WXS	SOLID	Phase_I	A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37		.	.	.	.	.	.	.	.	.	.	T	12.47	1.946228	0.34377	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	D;D	0.88277	-2.36;-2.32	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	.	.	.	0.80722	D	1	B;D;B;D	0.89917	0.001;1.0;0.011;1.0	B;D;B;D	0.87578	0.008;0.998;0.015;0.997	D	0.92534	0.6036	9	0.40728	T	0.16	-18.3864	12.0739	0.53632	0.0:0.0:0.0:1.0	.	238;221;238;113	Q99687;Q99687-3;Q99687-2;Q59FK5	MEIS3_HUMAN;.;.;.	V	238;221	ENSP00000333552:D238V;ENSP00000388667:D221V	ENSP00000333552:D238V	D	-	2	0	MEIS3	52604313	1.000000	0.71417	0.983000	0.44433	0.480000	0.33159	7.501000	0.81600	2.008000	0.58898	0.533000	0.62120	GAC		0.607	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1		XM_085929	
MOB3B	79817	hgsc.bcm.edu;ucsc.edu	37	9	27359175	27359175	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr9:27359175G>A	ENST00000262244.5	-	3	902	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	MOB3B_ENST00000603061.1_5'UTR	NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	160							metal ion binding (GO:0046872)										ACAAAGACCCGGAAAAGGCGG	0.463																																																	0													162.0	170.0	168.0					9																	27359175		2203	4300	6503	SO:0001583	missense	0			AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.478C>T	9.37:g.27359175G>A	ENSP00000262244:p.Arg160Trp	Somatic		WXS	SOLID	Phase_I	Q8NEB4|Q9H8V4	Missense_Mutation	SNP	ENST00000262244.5	37	CCDS6520.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460748	0.84317	.	.	ENSG00000120162	ENST00000262244	.	.	.	5.22	5.22	0.72569	.	0.116572	0.38663	N	0.001618	D	0.87807	0.6270	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91715	0.5384	9	0.87932	D	0	-13.7442	17.3419	0.87299	0.0:0.0:1.0:0.0	.	160	Q86TA1	MOB3B_HUMAN	W	160	.	ENSP00000262244:R160W	R	-	1	2	MOBKL2B	27349175	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	3.829000	0.55760	2.437000	0.82529	0.313000	0.20887	CGG		0.463	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2		NM_024761	
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9047853	9047853	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr19:9047853G>C	ENST00000397910.4	-	5	33981	c.33778C>G	c.(33778-33780)Ccg>Gcg	p.P11260A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11262	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGTAAACGGCTCACCAGTG	0.483																																																	0													67.0	60.0	62.0					19																	9047853		1940	4145	6085	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33778C>G	19.37:g.9047853G>C	ENSP00000381008:p.Pro11260Ala	Somatic		WXS	SOLID	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.164	0.215872	0.09810	.	.	ENSG00000181143	ENST00000397910	T	0.03094	4.05	2.78	1.74	0.24563	.	.	.	.	.	T	0.04634	0.0126	L	0.34521	1.04	.	.	.	P	0.44659	0.84	P	0.46850	0.529	T	0.26985	-1.0087	8	0.87932	D	0	.	5.5181	0.16918	0.1586:0.0:0.8414:0.0	.	11260	B5ME49	.	A	11260	ENSP00000381008:P11260A	ENSP00000381008:P11260A	P	-	1	0	MUC16	8908853	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.238000	0.08977	0.714000	0.32081	0.556000	0.70494	CCG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
PRDM9	56979	hgsc.bcm.edu;ucsc.edu	37	5	23526898	23526898	+	Silent	SNP	C	C	T			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr5:23526898C>T	ENST00000296682.3	+	11	1883	c.1701C>T	c.(1699-1701)ctC>ctT	p.L567L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	567					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTCACACCTCCTCATTCACC	0.542										HNSCC(3;0.000094)																																							0													75.0	83.0	80.0					5																	23526898		2183	4298	6481	SO:0001819	synonymous_variant	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1701C>T	5.37:g.23526898C>T		Somatic		WXS	SOLID	Phase_I	B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	CCDS43307.1																																																																																				0.542	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1		NM_020227	
R3HCC1	203069	hgsc.bcm.edu;ucsc.edu	37	8	23147827	23147827	+	Missense_Mutation	SNP	C	C	T	rs150268828	byFrequency	TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr8:23147827C>T	ENST00000411463.1	+	5	817	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	R3HCC1_ENST00000265806.6_Missense_Mutation_p.R46W|R3HCC1_ENST00000522012.1_Intron|R3HCC1_ENST00000518454.1_Missense_Mutation_p.R46W			Q9Y3T6	R3HC1_HUMAN	R3H domain and coiled-coil containing 1	273							nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			central_nervous_system(1)|skin(2)	3						GATGGCCACACGGTTTGGGTC	0.587													C|||	5	0.000998403	0.0008	0.0	5008	,	,		19997	0.004		0.0	False		,,,				2504	0.0																0													146.0	144.0	145.0					8																	23147827		692	1591	2283	SO:0001583	missense	203069				CCDS47826.1	8p21.3	2012-05-23		2005-11-20	ENSG00000104679	ENSG00000104679			27329	protein-coding gene	gene with protein product						12477932	Standard	XM_005273427		Approved	DKFZp564N123	uc003xdf.3	Q9Y3T6	OTTHUMG00000163786	ENST00000411463.1:c.817C>T	8.37:g.23147827C>T	ENSP00000397555:p.Arg273Trp	Somatic		WXS	SOLID	Phase_I	B7ZLI1	Missense_Mutation	SNP	ENST00000411463.1	37		4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	2	0.0034965034965034965	0	0.0	C	14.94	2.684379	0.47991	.	.	ENSG00000104679	ENST00000518454;ENST00000265806;ENST00000411463;ENST00000519952;ENST00000521588	T;T;T;T	0.48522	1.87;1.87;2.42;0.81	4.91	4.91	0.64330	.	1.185880	0.05747	N	0.602399	T	0.39489	0.1080	L	0.29908	0.895	0.09310	N	1	P	0.40931	0.733	B	0.33799	0.17	T	0.39702	-0.9601	10	0.51188	T	0.08	-3.9274	13.9847	0.64326	0.0:1.0:0.0:0.0	.	273	Q9Y3T6	R3HC1_HUMAN	W	46;46;273;46;46	ENSP00000430607:R46W;ENSP00000265806:R46W;ENSP00000397555:R273W;ENSP00000429417:R46W	ENSP00000265806:R46W	R	+	1	2	R3HCC1	23203772	0.004000	0.15560	0.004000	0.12327	0.015000	0.08874	1.904000	0.39868	2.442000	0.82660	0.655000	0.94253	CGG		0.587	R3HCC1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001136108	
SCN4A	6329	hgsc.bcm.edu	37	17	62024487	62024487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr17:62024487G>T	ENST00000435607.1	-	18	3435	c.3359C>A	c.(3358-3360)tCg>tAg	p.S1120*	SCN4A_ENST00000578147.1_Nonsense_Mutation_p.S1120*	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1120					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCCAGCTCCGAGTAGCCCAG	0.667											OREG0024655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001587	stop_gained	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3359C>A	17.37:g.62024487G>T	ENSP00000396320:p.Ser1120*	Somatic	1058	WXS	SOLID	Phase_I	Q15478|Q16447|Q7Z6B1	Nonsense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	41	9.035359	0.99044	.	.	ENSG00000007314	ENST00000435607	.	.	.	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3969	0.74801	0.0:0.0:1.0:0.0	.	.	.	.	X	1120	.	ENSP00000396320:S1120X	S	-	2	0	SCN4A	59378219	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.607000	0.82883	2.291000	0.77112	0.491000	0.48974	TCG		0.667	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_000334	
SHISA5	51246	hgsc.bcm.edu;ucsc.edu	37	3	48538657	48538657	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr3:48538657C>G	ENST00000296444.2	-	2	482	c.146G>C	c.(145-147)tGt>tCt	p.C49S	SHISA5_ENST00000442747.1_Missense_Mutation_p.C18S|SHISA5_ENST00000444115.1_Missense_Mutation_p.C18S|SHISA5_ENST00000443308.2_Missense_Mutation_p.C49S	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	49					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						ACAGGTACCACAGCAGAAATC	0.552																																																	0													174.0	133.0	147.0					3																	48538657		2203	4300	6503	SO:0001583	missense	51246			AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"""Shisa homologs"""	30376	protein-coding gene	gene with protein product		607290	"""shisa homolog 5 (Xenopus laevis)"""			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.146G>C	3.37:g.48538657C>G	ENSP00000296444:p.Cys49Ser	Somatic		WXS	SOLID	Phase_I	B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Missense_Mutation	SNP	ENST00000296444.2	37	CCDS2770.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228036	0.79576	.	.	ENSG00000164054	ENST00000296444;ENST00000444115;ENST00000442747;ENST00000443308;ENST00000417841	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.90027	0.6886	M	0.79123	2.44	0.43399	D	0.995529	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	D	0.90924	0.4785	10	0.87932	D	0	0.4461	12.7168	0.57119	0.0:1.0:0.0:0.0	.	49;49	F8W9N8;Q8N114	.;SHSA5_HUMAN	S	49;18;18;49;18	ENSP00000296444:C49S;ENSP00000407957:C18S;ENSP00000408223:C18S;ENSP00000395373:C49S;ENSP00000412509:C18S	ENSP00000296444:C49S	C	-	2	0	SHISA5	48513661	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.119000	0.50422	2.467000	0.83353	0.650000	0.86243	TGT		0.552	SHISA5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257504.3		NM_016479	
SUN1	23353	hgsc.bcm.edu	37	7	897496	897496	+	Missense_Mutation	SNP	G	G	A	rs59910530	byFrequency	TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr7:897496G>A	ENST00000405266.1	+	14	1561	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	SUN1_ENST00000456758.2_Missense_Mutation_p.E665K|SUN1_ENST00000425407.2_Missense_Mutation_p.E393K|SUN1_ENST00000401592.1_Missense_Mutation_p.E476K|SUN1_ENST00000413514.2_Missense_Mutation_p.E274K|SUN1_ENST00000452783.2_Missense_Mutation_p.E373K|SUN1_ENST00000389574.3_Missense_Mutation_p.E393K			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	503					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCCACAGTCGAGCACCTCCA	0.562													G|||	843	0.168331	0.0772	0.2406	5008	,	,		15787	0.1359		0.1849	False		,,,				2504	0.2566																0								G	LYS/GLU,LYS/GLU,LYS/GLU	354,3828		19,316,1756	162.0	176.0	171.0		1426,1117,1177	-10.3	0.0	7	dbSNP_129	171	1365,7061		105,1155,2953	yes	missense,missense,missense	SUN1	NM_001130965.2,NM_001171944.1,NM_025154.5	56,56,56	124,1471,4709	AA,AG,GG		16.1999,8.4648,13.6342	benign,benign,benign	476/786,373/683,393/703	897496	1719,10889	2091	4213	6304	SO:0001583	missense	23353			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1537G>A	7.37:g.897496G>A	ENSP00000384116:p.Glu513Lys	Somatic		WXS	SOLID	Phase_I	A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37		359|359	0.16437728937728938|0.16437728937728938	49|49	0.09959349593495935|0.09959349593495935	86|86	0.23756906077348067|0.23756906077348067	89|89	0.1555944055944056|0.1555944055944056	135|135	0.17810026385224276|0.17810026385224276	G|G	8.800|8.800	0.932697|0.932697	0.18131|0.18131	0.084648|0.084648	0.161999|0.161999	ENSG00000164828|ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514|ENST00000433212	T;T;T;T;T;T;T;T|.	0.22336|.	2.31;2.31;2.32;2.31;2.31;2.31;1.99;1.96|.	5.15|5.15	-10.3|-10.3	0.00346|0.00346	.|.	1.071220|.	0.06979|.	N|.	0.819504|.	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.08118|0.08118	0|0	0.80722|0.80722	P|P	0.0|0.0	B;B;B;B;B;B|.	0.17268|.	0.002;0.002;0.003;0.021;0.003;0.005|.	B;B;B;B;B;B|.	0.09377|.	0.002;0.002;0.003;0.004;0.002;0.004|.	T|T	0.22243|0.22243	-1.0222|-1.0222	9|4	0.06236|.	T|.	0.91|.	-4.5311|-4.5311	9.0345|9.0345	0.36280|0.36280	0.2149:0.5051:0.28:0.0|0.2149:0.5051:0.28:0.0	rs59910530;rs61743533|rs59910530;rs61743533	274;373;476;665;503;393|.	E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5|.	.;.;.;.;SUN1_HUMAN;.|.	K|Q	665;393;373;513;476;503;393;401;274|324	ENSP00000388743:E665K;ENSP00000374225:E393K;ENSP00000413439:E373K;ENSP00000384116:E513K;ENSP00000384015:E476K;ENSP00000392309:E393K;ENSP00000409909:E401K;ENSP00000389313:E274K|.	ENSP00000297445:E503K|.	E|R	+|+	1|2	0|0	SUN1|SUN1	864022|864022	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.212000|-0.212000	0.09319|0.09319	-2.067000|-2.067000	0.00885|0.00885	-0.302000|-0.302000	0.09304|0.09304	GAG|CGA		0.562	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1		NM_025154	
TIMM23	100287932	hgsc.bcm.edu	37	10	51623174	51623174	+	Missense_Mutation	SNP	C	C	A	rs61847112|rs141118546		TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr10:51623174C>A	ENST00000260867.4	-	1	164	c.41G>T	c.(40-42)gGa>gTa	p.G14V	TIMM23_ENST00000374065.3_Missense_Mutation_p.G14V|TIMM23_ENST00000374064.3_Missense_Mutation_p.G14V	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	14					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			endometrium(1)|large_intestine(1)|pancreas(1)	3						GCCGGCCAATCCCCCTGTGGT	0.627																																																	0																																										SO:0001583	missense	100287932			AF030162	CCDS73091.1	10q11.21-q11.23	2010-03-17			ENSG00000138297				17312	protein-coding gene	gene with protein product		605034				10339406	Standard	NM_006327		Approved	TIM23	uc010qha.2	O14925	OTTHUMG00000018213	ENST00000260867.4:c.41G>T	10.37:g.51623174C>A	ENSP00000260867:p.Gly14Val	Somatic		WXS	SOLID	Phase_I	Q53FF8|Q5T1E6|Q6P5S5	Missense_Mutation	SNP	ENST00000260867.4	37	CCDS7238.1	.	.	.	.	.	.	.	.	.	.	C	5.921	0.353959	0.11182	.	.	ENSG00000138297	ENST00000260867;ENST00000374064;ENST00000374065	.	.	.	4.5	4.5	0.54988	.	0.054782	0.64402	D	0.000001	T	0.69637	0.3133	L	0.55481	1.735	0.09310	P	0.99999999366203	D;D	0.67145	0.996;0.991	D;P	0.70487	0.969;0.888	T	0.73748	-0.3885	8	0.44086	T	0.13	-2.234	14.5574	0.68109	0.0:1.0:0.0:0.0	.	14;14	B1APJ0;O14925	.;TIM23_HUMAN	V	14	.	ENSP00000260867:G14V	G	-	2	0	TIMM23	51293180	0.998000	0.40836	0.864000	0.33941	0.080000	0.17528	4.552000	0.60747	2.483000	0.83821	0.603000	0.83216	GGA		0.627	TIMM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048040.1		NM_006327.2	
TRIM37	4591	hgsc.bcm.edu	37	17	57181741	57181741	+	Silent	SNP	A	A	G			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr17:57181741A>G	ENST00000262294.7	-	2	295	c.36T>C	c.(34-36)gtT>gtC	p.V12V	TRIM37_ENST00000393066.3_Silent_p.V12V|TRIM37_ENST00000393065.2_Intron|TRIM37_ENST00000376149.3_5'UTR|AC099850.1_ENST00000451775.1_RNA|TRIM37_ENST00000584889.1_Silent_p.V12V	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	12					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AACATCGGAAAACCTCAGCAA	0.403									Mulibrey Nanism																																								0													91.0	81.0	84.0					17																	57181741		2203	4300	6503	SO:0001819	synonymous_variant	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.36T>C	17.37:g.57181741A>G		Somatic		WXS	SOLID	Phase_I	Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000262294.7	37	CCDS32694.1																																																																																				0.403	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1		NM_015294	
TRPM2	7226	hgsc.bcm.edu	37	21	45798894	45798894	+	Silent	SNP	C	C	A			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr21:45798894C>A	ENST00000397928.1	+	8	1474	c.1029C>A	c.(1027-1029)gcC>gcA	p.A343A	TRPM2_ENST00000300481.9_Silent_p.A343A|TRPM2_ENST00000397932.2_Silent_p.A343A|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.A343A	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	343					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCGACAACGCCACCACCAACG	0.627																																																	0													66.0	60.0	62.0					21																	45798894		2203	4300	6503	SO:0001819	synonymous_variant	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1029C>A	21.37:g.45798894C>A		Somatic		WXS	SOLID	Phase_I	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	CCDS13710.1																																																																																				0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		NM_003307	
USP9Y	8287	hgsc.bcm.edu;ucsc.edu	37	Y	14952324	14952324	+	Missense_Mutation	SNP	A	A	G	rs199530143		TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chrY:14952324A>G	ENST00000338981.3	+	36	6817	c.5872A>G	c.(5872-5874)Atg>Gtg	p.M1958V	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1958	USP.				BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTATGAACAAATGGATATGAT	0.388																																																	0													114.0	101.0	104.0					Y																	14952324		614	1964	2578	SO:0001583	missense	8287			Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.5872A>G	Y.37:g.14952324A>G	ENSP00000342812:p.Met1958Val	Somatic		WXS	SOLID	Phase_I	O14601	Missense_Mutation	SNP	ENST00000338981.3	37	CCDS14781.1																																																																																				0.388	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2		NM_004654	
WEE1	7465	hgsc.bcm.edu	37	11	9608378	9608378	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4799-01A-01D-1373-10	TCGA-BP-4799-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bda2877-8fb7-4d05-b335-5d4528a555e5	f4ecc60a-f13d-4e80-aefd-ea2518dd5d93	g.chr11:9608378A>C	ENST00000450114.2	+	10	2015	c.1762A>C	c.(1762-1764)Aag>Cag	p.K588Q	WEE1_ENST00000299613.6_Missense_Mutation_p.K374Q	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	588					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GAATGCCGAAAAGTTCAAAAA	0.328																																																	0													40.0	42.0	41.0					11																	9608378		2201	4294	6495	SO:0001583	missense	7465			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1762A>C	11.37:g.9608378A>C	ENSP00000402084:p.Lys588Gln	Somatic		WXS	SOLID	Phase_I	B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633432	0.87660	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000530712;ENST00000527848	T;T;T;T	0.60299	0.57;0.5;1.68;0.2	5.84	5.84	0.93424	Protein kinase-like domain (1);	0.103697	0.64402	D	0.000005	T	0.76673	0.4020	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.79676	-0.1704	10	0.72032	D	0.01	-18.3002	16.2055	0.82126	1.0:0.0:0.0:0.0	.	588	P30291	WEE1_HUMAN	Q	588;374;194;40	ENSP00000402084:K588Q;ENSP00000299613:K374Q;ENSP00000434148:K194Q;ENSP00000432284:K40Q	ENSP00000299613:K374Q	K	+	1	0	WEE1	9564954	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.517000	0.90555	2.226000	0.72624	0.482000	0.46254	AAG		0.328	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1		NM_003390	
