#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
AADACL3	126767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12785730	12785730	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:12785730G>C	ENST00000359318.5	+	4	1025	c.820G>C	c.(820-822)Gac>Cac	p.D274H	AADACL3_ENST00000332530.3_Missense_Mutation_p.D204H	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	274							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGAAGATGACATAGTGTC	0.507																																																	0													105.0	105.0	105.0					1																	12785730		2072	4215	6287	SO:0001583	missense	126767				CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.820G>C	1.37:g.12785730G>C	ENSP00000352268:p.Asp274His	Somatic		WXS	Illumina HiSeq	Phase_I	B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484217	0.44147	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.14144	2.53;2.53	5.56	1.48	0.22813	Alpha/beta hydrolase fold-3 (1);	0.899096	0.09639	N	0.775167	T	0.20333	0.0489	L	0.39898	1.24	0.09310	N	1	D;P	0.53619	0.961;0.942	D;P	0.64687	0.928;0.831	T	0.17561	-1.0365	10	0.34782	T	0.22	-2.7368	1.9439	0.03352	0.2942:0.1242:0.4542:0.1274	.	274;204	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	H	204;274	ENSP00000333352:D204H;ENSP00000352268:D274H	ENSP00000333352:D204H	D	+	1	0	AADACL3	12708317	0.008000	0.16893	0.000000	0.03702	0.080000	0.17528	1.614000	0.36911	0.018000	0.15052	-0.494000	0.04653	GAC		0.507	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2		NM_001103170	
ABCA12	26154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	215868936	215868936	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:215868936G>T	ENST00000272895.7	-	20	2899	c.2680C>A	c.(2680-2682)Ctc>Atc	p.L894I	ABCA12_ENST00000389661.4_Missense_Mutation_p.L576I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	894					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GACTCACCGAGTTCATCTATC	0.363																																					Ovarian(66;664 1488 5121 34295)												0													62.0	62.0	62.0					2																	215868936		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2680C>A	2.37:g.215868936G>T	ENSP00000272895:p.Leu894Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661272	0.67700	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.85484	-1.99;-1.99	5.7	5.7	0.88788	.	0.231983	0.30428	N	0.009646	D	0.88573	0.6473	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.99	D;P	0.74674	0.984;0.854	D	0.86669	0.1909	10	0.35671	T	0.21	.	12.3443	0.55111	0.0773:0.0:0.9227:0.0	.	894;576	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	I	894;576	ENSP00000272895:L894I;ENSP00000374312:L576I	ENSP00000272895:L894I	L	-	1	0	ABCA12	215577181	1.000000	0.71417	0.966000	0.40874	0.979000	0.70002	3.740000	0.55082	2.687000	0.91594	0.563000	0.77884	CTC		0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1		NM_173076	
ABCA2	20	broad.mit.edu;hgsc.bcm.edu	37	9	139916407	139916407	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:139916407G>C	ENST00000371605.3	-	6	758	c.611C>G	c.(610-612)tCt>tGt	p.S204C	ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000265662.5_Missense_Mutation_p.S205C|ABCA2_ENST00000341511.6_Missense_Mutation_p.S205C			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	204					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGGAGGCCAGACTGTGAATC	0.632																																																	0													35.0	42.0	40.0					9																	139916407		1978	4150	6128	SO:0001583	missense	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.611C>G	9.37:g.139916407G>C	ENSP00000360666:p.Ser204Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37		.	.	.	.	.	.	.	.	.	.	g	10.44	1.351398	0.24512	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.87412	-2.25;-2.25;-2.25	3.69	1.55	0.23275	.	3.264110	0.02668	U	0.108281	T	0.75766	0.3894	N	0.08118	0	0.09310	N	1	B;P;B	0.39624	0.187;0.681;0.327	B;B;B	0.39971	0.109;0.315;0.125	T	0.69540	-0.5118	10	0.36615	T	0.2	.	4.1294	0.10143	0.2198:0.0:0.5979:0.1823	.	204;234;235	Q9BZC7;E7EU84;E7ETC3	ABCA2_HUMAN;.;.	C	205;204;235;205	ENSP00000265662:S205C;ENSP00000360666:S204C;ENSP00000344155:S205C	ENSP00000265662:S205C	S	-	2	0	ABCA2	139036228	0.003000	0.15002	0.002000	0.10522	0.081000	0.17604	1.327000	0.33746	0.632000	0.30432	0.306000	0.20318	TCT		0.632	ABCA2-202	KNOWN	basic	protein_coding	protein_coding			NM_001606	
ADAMTS7	11173	broad.mit.edu;hgsc.bcm.edu	37	15	79058756	79058756	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:79058756G>C	ENST00000388820.4	-	19	3707	c.3497C>G	c.(3496-3498)gCc>gGc	p.A1166G	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1166					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AAGATCTGGGGCCCCTATGGG	0.632																																																	0													8.0	10.0	9.0					15																	79058756		1978	3882	5860	SO:0001583	missense	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3497C>G	15.37:g.79058756G>C	ENSP00000373472:p.Ala1166Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	g	8.864	0.947671	0.18356	.	.	ENSG00000136378	ENST00000388820	T	0.60299	0.2	3.65	3.65	0.41850	.	1.106010	0.06848	N	0.796914	T	0.51024	0.1650	M	0.63428	1.95	0.09310	N	1	P	0.38922	0.651	B	0.33521	0.165	T	0.40001	-0.9586	10	0.23302	T	0.38	.	7.7868	0.29097	0.1249:0.0:0.8751:0.0	.	1166	Q9UKP4	ATS7_HUMAN	G	1166	ENSP00000373472:A1166G	ENSP00000373472:A1166G	A	-	2	0	ADAMTS7	76845811	0.000000	0.05858	0.239000	0.24122	0.326000	0.28443	-0.121000	0.10643	1.961000	0.56991	0.472000	0.43445	GCC		0.632	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1		NM_014272	
ADCYAP1R1	117	hgsc.bcm.edu;ucsc.edu	37	7	31142950	31142959	+	Frame_Shift_Del	DEL	CGTGTTTGAG	CGTGTTTGAG	-	rs527816186	byFrequency	TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	CGTGTTTGAG	CGTGTTTGAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:31142950_31142959delCGTGTTTGAG	ENST00000304166.4	+	14	1435_1444	c.1146_1155delCGTGTTTGAG	c.(1144-1155)ctcgtgtttgagfs	p.LVFE382fs	ADCYAP1R1_ENST00000409363.1_Frame_Shift_Del_p.LVFE361fs|ADCYAP1R1_ENST00000396211.2_Frame_Shift_Del_p.LVFE410fs|ADCYAP1R1_ENST00000409489.1_Frame_Shift_Del_p.LVFE438fs	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	382					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGGAAAGACTCGTGTTTGAGCTGGGGCTGG	0.586																																					Ovarian(44;225 1186 2158 11092)												0																																										SO:0001589	frameshift_variant	117				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1146_1155delCGTGTTTGAG	7.37:g.31142950_31142959delCGTGTTTGAG	ENSP00000306620:p.Leu382fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Frame_Shift_Del	DEL	ENST00000304166.4	37	CCDS5433.1																																																																																				0.586	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3		NM_001118	
AICDA	57379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	8758017	8758017	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:8758017C>T	ENST00000229335.6	-	3	324	c.221G>A	c.(220-222)cGc>cAc	p.R74H	AICDA_ENST00000537228.1_Missense_Mutation_p.R74H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	74					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GCGGTAGCAGCGGCCAGGGTC	0.602																																					GBM(62;896 1067 5527 26594 30137)												0													49.0	55.0	53.0					12																	8758017		2103	4239	6342	SO:0001583	missense	57379			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.221G>A	12.37:g.8758017C>T	ENSP00000229335:p.Arg74His	Somatic		WXS	Illumina HiSeq	Phase_I	Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.907280|2.907280	0.52333|0.52333	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000543081;ENST00000545512|ENST00000229335;ENST00000537228	.|T;T	.|0.65549	.|-0.16;-0.16	5.43|5.43	4.54|4.54	0.55810|0.55810	.|APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.|0.118717	.|0.56097	.|D	.|0.000028	T|T	0.61451|0.61451	0.2348|0.2348	M|M	0.69823|0.69823	2.125|2.125	0.41943|0.41943	D|D	0.99062|0.99062	.|B;B;B	.|0.16396	.|0.009;0.017;0.009	.|B;B;B	.|0.15484	.|0.013;0.013;0.013	T|T	0.61792|0.61792	-0.6990|-0.6990	5|10	.|0.56958	.|D	.|0.05	-22.3214|-22.3214	12.8945|12.8945	0.58091|0.58091	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.	.|74;74;74	.|Q9GZX7;Q6QJ80;Q6QJ81	.|AICDA_HUMAN;.;.	T|H	73|74	.|ENSP00000229335:R74H;ENSP00000445691:R74H	.|ENSP00000229335:R74H	A|R	-|-	1|2	0|0	AICDA|AICDA	8649284|8649284	0.997000|0.997000	0.39634|0.39634	0.858000|0.858000	0.33744|0.33744	0.806000|0.806000	0.45545|0.45545	4.017000|4.017000	0.57167|0.57167	1.295000|1.295000	0.44724|0.44724	0.462000|0.462000	0.41574|0.41574	GCT|CGC		0.602	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1		NM_020661	
ANGPTL7	10218	hgsc.bcm.edu;ucsc.edu	37	1	11249984	11249984	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:11249984delA	ENST00000376819.3	+	1	587	c.348delA	c.(346-348)gcafs	p.A117fs	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	117					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AGCTGCAGGCAGCACAGACGG	0.562																																																	0													79.0	73.0	75.0					1																	11249984		2203	4300	6503	SO:0001589	frameshift_variant	10218			Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.348delA	1.37:g.11249984delA	ENSP00000366015:p.Ala117fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9B2|F1T0A6|Q4ZGK4	Frame_Shift_Del	DEL	ENST00000376819.3	37	CCDS128.1																																																																																				0.562	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1		NM_021146	
ANKRD44	91526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	197953472	197953473	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:197953472_197953473insT	ENST00000328737.2	-	12	1210_1211	c.1134_1135insA	c.(1132-1137)aaatttfs	p.F379fs	ANKRD44_ENST00000539527.1_Frame_Shift_Ins_p.F332fs|ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000409153.1_Frame_Shift_Ins_p.F404fs|ANKRD44_ENST00000337207.5_Frame_Shift_Ins_p.F379fs|ANKRD44_ENST00000282272.8_Frame_Shift_Ins_p.F396fs|ANKRD44_ENST00000450567.1_Frame_Shift_Ins_p.F379fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	404										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTCTTCCAAATTTATCTGGGG	0.381																																																	0																																										SO:0001589	frameshift_variant	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1135dupA	2.37:g.197953475_197953475dupT	ENSP00000331516:p.Phe379fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Ins	INS	ENST00000328737.2	37																																																																																					0.381	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1		NM_153697	
ARNTL	406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	13375946	13375946	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:13375946A>G	ENST00000403290.1	+	5	446	c.91A>G	c.(91-93)Agt>Ggt	p.S31G	RN7SKP151_ENST00000410230.1_RNA|ARNTL_ENST00000403510.3_5'UTR|ARNTL_ENST00000361003.4_Missense_Mutation_p.S31G|ARNTL_ENST00000396441.3_Missense_Mutation_p.S31G|ARNTL_ENST00000389708.3_Missense_Mutation_p.S31G|ARNTL_ENST00000401424.1_5'UTR|ARNTL_ENST00000389707.4_Missense_Mutation_p.S31G|ARNTL_ENST00000403482.3_5'Flank			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	31					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TCTTGGTACCAGTGGTGTGGA	0.512																																																	0													87.0	75.0	79.0					11																	13375946		2200	4294	6494	SO:0001583	missense	406			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.91A>G	11.37:g.13375946A>G	ENSP00000384517:p.Ser31Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37		.	.	.	.	.	.	.	.	.	.	A	8.949	0.967792	0.18659	.	.	ENSG00000133794	ENST00000534544;ENST00000527998;ENST00000396441;ENST00000533520;ENST00000389707;ENST00000529388;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000531665	T;T;T;T;T;T	0.46063	3.08;3.08;0.88;3.08;2.72;3.05	5.71	0.571	0.17352	.	0.430351	0.27866	N	0.017527	T	0.18299	0.0439	N	0.12182	0.205	0.23126	N	0.998257	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.15206	-1.0445	9	.	.	.	.	4.5732	0.12219	0.5026:0.0:0.329:0.1684	.	31;31	O00327;O00327-8	BMAL1_HUMAN;.	G	31	ENSP00000379718:S31G;ENSP00000374357:S31G;ENSP00000433571:S31G;ENSP00000384517:S31G;ENSP00000354278:S31G;ENSP00000374358:S31G	.	S	+	1	0	ARNTL	13332522	0.976000	0.34144	0.237000	0.24090	0.606000	0.37113	0.492000	0.22435	-0.140000	0.11394	0.533000	0.62120	AGT		0.512	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1		NM_001178	
ATP1A1	476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	116932982	116932982	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:116932982A>G	ENST00000295598.5	+	9	1423	c.1171A>G	c.(1171-1173)Atg>Gtg	p.M391V	ATP1A1_ENST00000537345.1_Missense_Mutation_p.M391V|ATP1A1_ENST00000369496.4_Missense_Mutation_p.M360V	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	391					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGTGGCCCACATGTGGTTTGA	0.507																																																	0													74.0	69.0	71.0					1																	116932982		2203	4300	6503	SO:0001583	missense	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1171A>G	1.37:g.116932982A>G	ENSP00000295598:p.Met391Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	CCDS887.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.272851	0.59649	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	T;T;T	0.77620	-1.11;-1.11;-1.11	4.87	4.87	0.63330	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.069535	0.85682	D	0.000000	T	0.43478	0.1249	N	0.02011	-0.69	0.80722	D	1	B;B	0.19200	0.028;0.034	B;B	0.31390	0.079;0.129	T	0.49495	-0.8934	10	0.38643	T	0.18	.	14.6423	0.68734	1.0:0.0:0.0:0.0	.	391;391	F5H3A1;P05023	.;AT1A1_HUMAN	V	391;391;390;360	ENSP00000295598:M391V;ENSP00000445306:M391V;ENSP00000358508:M360V	ENSP00000295598:M391V	M	+	1	0	ATP1A1	116734505	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.305000	0.78891	2.068000	0.61886	0.528000	0.53228	ATG		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5		NM_001160233	
ATPAF2	91647	hgsc.bcm.edu;ucsc.edu	37	17	17927959	17927961	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	ATT	ATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:17927959_17927961delATT	ENST00000474627.3	-	5	634_636	c.480_482delAAT	c.(478-483)ccaatc>ccc	p.I162del	ATPAF2_ENST00000585101.1_3'UTR|ATPAF2_ENST00000469327.1_5'UTR	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	162					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CCATTCGATGATTGGATCCCACT	0.468																																																	0																																										SO:0001651	inframe_deletion	91647			AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.480_482delAAT	17.37:g.17927959_17927961delATT	ENSP00000417190:p.Ile162del	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDE5|A8K2J2|Q6XYC7	In_Frame_Del	DEL	ENST00000474627.3	37	CCDS32585.1																																																																																				0.468	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3		NM_145691	
B9D1	27077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	19250621	19250621	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:19250621A>C	ENST00000261499.4	-	5	508	c.365T>G	c.(364-366)tTt>tGt	p.F122C	B9D1_ENST00000477478.2_Missense_Mutation_p.L98V|B9D1_ENST00000461069.2_Missense_Mutation_p.F122C|MIR1180_ENST00000408613.1_RNA|B9D1_ENST00000395615.1_Missense_Mutation_p.F122C|B9D1_ENST00000268841.6_Missense_Mutation_p.F122C|B9D1_ENST00000575403.1_Missense_Mutation_p.L98V|B9D1_ENST00000395616.3_Missense_Mutation_p.F122C	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	122	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TTCTGGGACAAACATGGGGAT	0.463																																																	0													135.0	121.0	126.0					17																	19250621		2203	4300	6503	SO:0001583	missense	27077			BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"""endothelial precursor protein B9"""	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.365T>G	17.37:g.19250621A>C	ENSP00000261499:p.Phe122Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BU22	Missense_Mutation	SNP	ENST00000261499.4	37	CCDS11205.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474337	0.84640	.	.	ENSG00000108641	ENST00000395615;ENST00000261499;ENST00000395616;ENST00000268841;ENST00000440841	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.87075	0.6087	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89717	0.3916	10	0.66056	D	0.02	.	13.3685	0.60698	1.0:0.0:0.0:0.0	.	122	Q9UPM9	B9D1_HUMAN	C	122;122;122;122;113	ENSP00000378977:F122C;ENSP00000261499:F122C;ENSP00000378978:F122C;ENSP00000268841:F122C;ENSP00000410835:F113C	ENSP00000261499:F122C	F	-	2	0	B9D1	19191214	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.986000	0.88173	2.197000	0.70478	0.533000	0.62120	TTT		0.463	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132494.1		NM_015681	
C16orf71	146562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4787820	4787820	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:4787820A>C	ENST00000299320.5	+	3	627	c.149A>C	c.(148-150)gAg>gCg	p.E50A	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.E50A	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	50										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGGGAAGAGGAGCTGTTCATC	0.597																																																	0													83.0	81.0	82.0					16																	4787820		2197	4300	6497	SO:0001583	missense	146562			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.149A>C	16.37:g.4787820A>C	ENSP00000299320:p.Glu50Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844596	0.71488	.	.	ENSG00000166246	ENST00000299320	T	0.13196	2.61	4.51	4.51	0.55191	.	0.000000	0.42420	D	0.000720	T	0.31918	0.0812	L	0.58101	1.795	0.31336	N	0.684262	D	0.89917	1.0	D	0.87578	0.998	T	0.25398	-1.0133	10	0.87932	D	0	-23.9907	12.0245	0.53362	1.0:0.0:0.0:0.0	.	50	Q8IYS4	CP071_HUMAN	A	50	ENSP00000299320:E50A	ENSP00000299320:E50A	E	+	2	0	C16orf71	4727821	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.900000	0.63252	2.050000	0.60909	0.529000	0.55759	GAG		0.597	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1		NM_139170	
RSRP1	57035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	25573155	25573160	+	In_Frame_Del	DEL	GAACCC	GAACCC	-	rs201238140		TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	GAACCC	GAACCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:25573155_25573160delGAACCC	ENST00000243189.7	-	2	571_576	c.295_300delGGGTTC	c.(295-300)gggttcdel	p.GF99del	C1orf63_ENST00000417642.2_In_Frame_Del_p.GF92del|RP3-465N24.6_ENST00000607698.1_lincRNA|C1orf63_ENST00000431849.2_In_Frame_Del_p.GF99del	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		99	Arg/Ser-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATCTCCTGGTGAACCCGTAGCGCCTC	0.67																																																	0																																										SO:0001651	inframe_deletion	57035																														ENST00000243189.7:c.295_300delGGGTTC	1.37:g.25573155_25573160delGAACCC	ENSP00000243189:p.Gly99_Phe100del	Somatic		WXS	Illumina HiSeq	Phase_I	A8K917|Q49AA4|Q5TH71|Q9GZP6	In_Frame_Del	DEL	ENST00000243189.7	37	CCDS260.1																																																																																				0.670	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2			
CASP10	843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	202060612	202060612	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:202060612C>A	ENST00000272879.5	+	5	809	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	CASP10_ENST00000448480.1_Missense_Mutation_p.Q209K|CASP10_ENST00000313728.7_Missense_Mutation_p.Q209K|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000374650.3_Missense_Mutation_p.Q209K|CASP10_ENST00000346817.5_Missense_Mutation_p.Q209K|CASP10_ENST00000286186.6_Missense_Mutation_p.Q209K|CASP10_ENST00000360132.3_Missense_Mutation_p.Q209K	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	209					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CGAGTCGTATCAAGGAGAGGA	0.433																																																	0													225.0	210.0	215.0					2																	202060612		2203	4300	6503	SO:0001583	missense	843			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.625C>A	2.37:g.202060612C>A	ENSP00000272879:p.Gln209Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507895	0.27036	.	.	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T;T;T	0.44083	4.5;0.93;4.42;0.94;4.45;4.17;4.39	3.42	2.52	0.30459	.	1.988590	0.02064	N	0.051008	T	0.19287	0.0463	N	0.08118	0	0.09310	N	1	B;B;B;B;B;P	0.37781	0.009;0.023;0.085;0.148;0.006;0.608	B;B;B;B;B;B	0.27380	0.009;0.013;0.01;0.053;0.006;0.079	T	0.23368	-1.0190	10	0.05351	T	0.99	.	8.9003	0.35490	0.0:0.7725:0.2275:0.0	.	209;209;209;209;209;209	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	K	209	ENSP00000286186:Q209K;ENSP00000353250:Q209K;ENSP00000272879:Q209K;ENSP00000363781:Q209K;ENSP00000237865:Q209K;ENSP00000314599:Q209K;ENSP00000396835:Q209K	ENSP00000272879:Q209K	Q	+	1	0	CASP10	201768857	0.001000	0.12720	0.001000	0.08648	0.286000	0.27126	1.171000	0.31896	0.992000	0.38840	0.655000	0.94253	CAA		0.433	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1		NM_032977	
CDK2	1017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56363264	56363265	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56363264_56363265delGA	ENST00000266970.4	+	5	732_733	c.492_493delGA	c.(490-495)gtgaccfs	p.T165fs	CDK2_ENST00000354056.4_Intron|PMEL_ENST00000548747.1_5'Flank|RP11-973D8.4_ENST00000554022.1_RNA|PMEL_ENST00000548493.1_5'Flank|PMEL_ENST00000552882.1_5'Flank|CDK2_ENST00000553376.1_Frame_Shift_Del_p.T165fs|PMEL_ENST00000539511.1_5'Flank|CDK2_ENST00000440311.2_Intron|CDK2_ENST00000556656.1_3'UTR|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000360714.4_5'Flank|PMEL_ENST00000536427.1_5'Flank	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	CTCAGGTGGTGACCCTGTGGTA	0.535																																																	0																																										SO:0001589	frameshift_variant	1017			M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"""Cyclin-dependent kinases"""	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.492_493delGA	12.37:g.56363264_56363265delGA	ENSP00000266970:p.Thr165fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7C6|O75100	Frame_Shift_Del	DEL	ENST00000266970.4	37	CCDS8898.1																																																																																				0.535	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409650.1			
CDK2	1017	hgsc.bcm.edu	37	12	56363267	56363267	+	Silent	SNP	C	C	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:56363267C>A	ENST00000266970.4	+	5	735	c.495C>A	c.(493-495)acC>acA	p.T165T	CDK2_ENST00000354056.4_Intron|PMEL_ENST00000548747.1_5'Flank|RP11-973D8.4_ENST00000554022.1_RNA|PMEL_ENST00000548493.1_5'Flank|PMEL_ENST00000552882.1_5'Flank|CDK2_ENST00000553376.1_Silent_p.T165T|PMEL_ENST00000539511.1_5'Flank|CDK2_ENST00000440311.2_Intron|CDK2_ENST00000556656.1_3'UTR|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000360714.4_5'Flank|PMEL_ENST00000536427.1_5'Flank	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|blood coagulation (GO:0007596)|cellular response to nitric oxide (GO:0071732)|centrosome duplication (GO:0051298)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone phosphorylation (GO:0016572)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transport (GO:0006813)|Ras protein signal transduction (GO:0007265)|regulation of gene silencing (GO:0060968)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	Cajal body (GO:0015030)|centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|condensed chromosome (GO:0000793)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|X chromosome (GO:0000805)|Y chromosome (GO:0000806)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		Bosutinib(DB06616)	AGGTGGTGACCCTGTGGTACC	0.532																																																	0													87.0	79.0	82.0					12																	56363267		2203	4300	6503	SO:0001819	synonymous_variant	1017			M68520	CCDS8898.1, CCDS8899.1	12q13	2011-11-08				ENSG00000123374		"""Cyclin-dependent kinases"""	1771	protein-coding gene	gene with protein product		116953				1717994, 8275715	Standard	NM_001798		Approved		uc001sit.4	P24941		ENST00000266970.4:c.495C>A	12.37:g.56363267C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7C6|O75100	Silent	SNP	ENST00000266970.4	37	CCDS8898.1																																																																																				0.532	CDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409650.1			
CEP83	51134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	94772668	94772668	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:94772668A>T	ENST00000397809.5	-	7	1249	c.700T>A	c.(700-702)Tta>Ata	p.L234I	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000339839.5_Missense_Mutation_p.L234I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L201I|CCDC41_ENST00000547575.1_Missense_Mutation_p.L234I	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		226					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TCAGCCTTTAATTCCGCTACT	0.438																																																	0													149.0	142.0	144.0					12																	94772668		1841	4105	5946	SO:0001583	missense	51134																														ENST00000397809.5:c.700T>A	12.37:g.94772668A>T	ENSP00000380911:p.Leu234Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894832	0.33442	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.69	3.32	0.38043	.	.	.	.	.	T	0.21022	0.0506	M	0.63843	1.955	0.31115	N	0.709521	P;P;P	0.35628	0.513;0.513;0.513	B;B;B	0.34873	0.103;0.191;0.103	T	0.26710	-1.0095	9	0.32370	T	0.25	0.0297	0.9418	0.01357	0.4746:0.154:0.2235:0.1478	.	234;201;226	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	I	234;234;201;234	ENSP00000344655:L234I;ENSP00000380911:L234I;ENSP00000380909:L201I;ENSP00000448913:L234I	ENSP00000344655:L234I	L	-	1	2	CCDC41	93296799	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.721000	0.47260	0.429000	0.26202	0.477000	0.44152	TTA		0.438	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			
CHD5	26038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	6170533	6170533	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:6170533A>T	ENST00000262450.3	-	37	5402	c.5303T>A	c.(5302-5304)cTc>cAc	p.L1768H	CHD5_ENST00000378021.1_Missense_Mutation_p.L625H	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGCTCGTTGAGGATCATGTA	0.572																																																	0													144.0	142.0	143.0					1																	6170533		2203	4300	6503	SO:0001583	missense	26038			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5303T>A	1.37:g.6170533A>T	ENSP00000262450:p.Leu1768His	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	a	35	5.579667	0.96565	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.93859	-3.3;1.7	5.41	5.41	0.78517	CHD, C-terminal 2 (1);	0.000000	0.64402	D	0.000010	D	0.95121	0.8419	L	0.42245	1.32	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.979	D	0.95747	0.8788	10	0.87932	D	0	-32.2848	15.7289	0.77788	1.0:0.0:0.0:0.0	.	1768;625	Q8TDI0;Q5TG85	CHD5_HUMAN;.	H	1768;625;625	ENSP00000262450:L1768H;ENSP00000367260:L625H	ENSP00000262450:L1768H	L	-	2	0	CHD5	6093120	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.211000	0.95120	2.187000	0.69744	0.418000	0.28097	CTC		0.572	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2		NM_015557	
CPLX2	10814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	175306865	175306865	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:175306865G>T	ENST00000359546.4	+	5	865	c.222G>T	c.(220-222)aaG>aaT	p.K74N	CPLX2_ENST00000393745.3_Missense_Mutation_p.K74N|CPLX2_ENST00000515094.1_Missense_Mutation_p.K74N	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	74	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCTGAAGAAGAAGGAGGAGA	0.647																																																	0													25.0	30.0	28.0					5																	175306865		2200	4300	6500	SO:0001583	missense	10814			U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.222G>T	5.37:g.175306865G>T	ENSP00000352544:p.Lys74Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Missense_Mutation	SNP	ENST00000359546.4	37	CCDS4396.1	.	.	.	.	.	.	.	.	.	.	g	19.22	3.785293	0.70337	.	.	ENSG00000145920	ENST00000359546;ENST00000509837;ENST00000393745;ENST00000393746;ENST00000514150;ENST00000502265;ENST00000515094	.	.	.	5.38	3.6	0.41247	.	0.000000	0.85682	U	0.000000	T	0.80555	0.4645	M	0.89715	3.055	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.81722	-0.0803	9	0.72032	D	0.01	-3.5723	10.2542	0.43388	0.1638:0.0:0.8362:0.0	.	74	Q6PUV4	CPLX2_HUMAN	N	74	.	ENSP00000352544:K74N	K	+	3	2	CPLX2	175239471	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.843000	0.62838	0.659000	0.30945	0.552000	0.68991	AAG		0.647	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			
CTSE	1510	broad.mit.edu;hgsc.bcm.edu	37	1	206325277	206325277	+	Missense_Mutation	SNP	A	A	T	rs201675695	byFrequency	TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:206325277A>T	ENST00000358184.2	+	5	620	c.502A>T	c.(502-504)Agt>Tgt	p.S168C	CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000361052.3_Missense_Mutation_p.S173C|CTSE_ENST00000432969.2_Missense_Mutation_p.S93C|CTSE_ENST00000360218.2_Missense_Mutation_p.S168C	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	173					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GTTTGGAGAAAGTGTCACAGA	0.547																																																	0													163.0	147.0	153.0					1																	206325277		2203	4300	6503	SO:0001583	missense	1510			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.502A>T	1.37:g.206325277A>T	ENSP00000350911:p.Ser168Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340507	0.60963	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.24	4.12	0.48240	.	0.127697	0.53938	D	0.000047	T	0.76842	0.4044	M	0.87328	2.875	0.45415	D	0.99839	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79050	-0.1962	10	0.62326	D	0.03	.	10.7631	0.46277	0.925:0.0:0.075:0.0	.	93;168;168	B4DNU8;P14091-2;P14091-1	.;.;.	C	168;173;168;93	ENSP00000350911:S168C;ENSP00000354337:S173C;ENSP00000353350:S168C;ENSP00000394607:S93C	ENSP00000350911:S168C	S	+	1	0	CTSE	204491900	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	4.478000	0.60230	1.017000	0.39495	-0.256000	0.11100	AGT		0.547	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1		NM_001910	
CYFIP2	26999	broad.mit.edu;hgsc.bcm.edu	37	5	156746796	156746796	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:156746796G>A	ENST00000442283.2	+	0	1520				CYFIP2_ENST00000377576.3_Silent_p.Q461Q|CYFIP2_ENST00000318218.6_Silent_p.Q461Q|CYFIP2_ENST00000521420.1_Silent_p.Q435Q|CYFIP2_ENST00000522463.1_Silent_p.Q265Q|CYFIP2_ENST00000541131.1_Silent_p.Q386Q|CYFIP2_ENST00000435847.2_Silent_p.Q135Q|CYFIP2_ENST00000347377.6_Silent_p.Q461Q	NM_001037333.1	NP_001032410.1			cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGCCTGCAGGTGCTCATGG	0.602																																																	0													85.0	86.0	85.0					5																	156746796		2203	4300	6503			26999			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07			5.37:g.156746796G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000442283.2	37																																																																																					0.602	CYFIP2-205	KNOWN	basic	protein_coding	protein_coding			NM_001037332	
DCDC1	341019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	30953424	30953424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:30953424C>A	ENST00000597505.1	-	20	2790	c.2791G>T	c.(2791-2793)Gag>Tag	p.E931*	DCDC1_ENST00000339794.5_Nonsense_Mutation_p.E10*|DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	279					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCATATGGCTCTGTTGTCTTA	0.443																																																	0													86.0	83.0	84.0					11																	30953424		2202	4299	6501	SO:0001587	stop_gained	100506627			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2791G>T	11.37:g.30953424C>A	ENSP00000472625:p.Glu931*	Somatic		WXS	Illumina HiSeq	Phase_I	A6PVL6|B7WNX6|Q6ZU04	Nonsense_Mutation	SNP	ENST00000597505.1	37		.	.	.	.	.	.	.	.	.	.	C	19.49	3.837571	0.71373	.	.	ENSG00000170959	ENST00000339794;ENST00000437348	.	.	.	4.55	2.66	0.31614	.	1.017930	0.07864	N	0.966744	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.0017	8.3862	0.32501	0.0:0.8081:0.0:0.1919	.	.	.	.	X	10	.	ENSP00000341700:E10X	E	-	1	0	DCDC5	30910000	0.001000	0.12720	0.000000	0.03702	0.058000	0.15608	0.488000	0.22371	0.614000	0.30107	0.455000	0.32223	GAG		0.443	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1		NM_181807	
DMD	1756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	31241191	31241191	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:31241191G>T	ENST00000357033.4	-	64	9540	c.9334C>A	c.(9334-9336)Ctc>Atc	p.L3112I	DMD_ENST00000474231.1_Missense_Mutation_p.L652I|DMD_ENST00000378677.2_Missense_Mutation_p.L3108I|DMD_ENST00000361471.4_Missense_Mutation_p.L44I|DMD_ENST00000378723.3_Missense_Mutation_p.L44I|DMD_ENST00000541735.1_Missense_Mutation_p.L652I|DMD_ENST00000378707.3_Missense_Mutation_p.L652I|DMD_ENST00000378702.4_Missense_Mutation_p.L44I|DMD_ENST00000378680.2_Missense_Mutation_p.L44I|DMD_ENST00000359836.1_Missense_Mutation_p.L652I|DMD_ENST00000343523.2_Missense_Mutation_p.L652I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3112	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGTCTTCGGAGTTTCATGGCA	0.383																																																	0													96.0	91.0	92.0					X																	31241191		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9334C>A	X.37:g.31241191G>T	ENSP00000354923:p.Leu3112Ile	Somatic		WXS	Illumina HiSeq	Phase_I	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.13|16.13	3.036996|3.036996	0.54896|0.54896	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680|ENST00000465285	T;T;T;T;T;T;T;T;T;T;T;T|.	0.77877|.	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13|.	5.23|5.23	5.23|5.23	0.72850|0.72850	EF-hand domain, type 1 (1);|.	0.629831|.	0.11896|.	U|.	0.519141|.	T|T	0.59622|0.59622	0.2207|0.2207	L|L	0.39085|0.39085	1.19|1.19	0.58432|0.58432	D|D	0.999997|0.999997	P;P;D;D;D;D;B;B;B;P;P;B;P;B;B;D|.	0.65815|.	0.786;0.778;0.995;0.986;0.995;0.995;0.022;0.009;0.179;0.902;0.88;0.194;0.897;0.018;0.102;0.965|.	D;P;D;D;D;D;B;B;B;P;P;B;D;B;P;D|.	0.87578|.	0.974;0.887;0.998;0.992;0.998;0.998;0.148;0.083;0.279;0.849;0.688;0.291;0.97;0.128;0.472;0.988|.	T|T	0.56329|0.56329	-0.7997|-0.7997	10|5	0.33940|.	T|.	0.23|.	.|.	16.6745|16.6745	0.85275|0.85275	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	44;3104;3112;3108;1771;1768;652;652;652;652;652;2989;44;44;44;44|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	I|N	3104;1771;1768;44;808;3108;3112;652;652;3112;2989;652;652;44;652;44;44|840	ENSP00000367997:L44I;ENSP00000350765:L808I;ENSP00000367948:L3108I;ENSP00000354923:L3112I;ENSP00000352894:L652I;ENSP00000340057:L652I;ENSP00000367979:L652I;ENSP00000444119:L652I;ENSP00000367974:L44I;ENSP00000417123:L652I;ENSP00000354464:L44I;ENSP00000367951:L44I|.	ENSP00000340057:L652I|.	L|T	-|-	1|2	0|0	DMD|DMD	31151112|31151112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.284000|5.284000	0.65627|0.65627	2.196000|2.196000	0.70406|0.70406	0.540000|0.540000	0.68198|0.68198	CTC|ACT		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006	
DMXL2	23312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51791649	51791649	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:51791649C>G	ENST00000251076.5	-	18	4059	c.3772G>C	c.(3772-3774)Ggg>Cgg	p.G1258R	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.G1258R|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1258						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.G1258W(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACCAATATCCCATCTCTTACC	0.413																																																	1	Substitution - Missense(1)	lung(1)											182.0	168.0	173.0					15																	51791649		2195	4293	6488	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3772G>C	15.37:g.51791649C>G	ENSP00000251076:p.Gly1258Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056144	0.76074	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.52983	0.64;0.64	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75915	-0.3149	10	0.87932	D	0	.	19.4131	0.94683	0.0:1.0:0.0:0.0	.	1258;1258	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	R	1258	ENSP00000251076:G1258R;ENSP00000441858:G1258R	ENSP00000251076:G1258R	G	-	1	0	DMXL2	49578941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.588000	0.87417	0.591000	0.81541	GGG		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263	
DNAH3	55567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	21123085	21123085	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:21123085G>T	ENST00000261383.3	-	14	1960	c.1961C>A	c.(1960-1962)tCc>tAc	p.S654Y	DNAH3_ENST00000415178.1_Missense_Mutation_p.S654Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	654	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S654C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATGTTCATGGATGCAATTTC	0.458																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(2)											169.0	130.0	143.0					16																	21123085		2201	4300	6501	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1961C>A	16.37:g.21123085G>T	ENSP00000261383:p.Ser654Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	5.790	0.330002	0.10956	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.24151	1.87;2.02	5.62	5.62	0.85841	.	0.000000	0.43919	D	0.000516	T	0.43590	0.1254	L	0.58810	1.83	0.53688	D	0.999979	B;D	0.53151	0.046;0.958	B;P	0.56163	0.011;0.793	T	0.12502	-1.0545	10	0.46703	T	0.11	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	654;594	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	Y	654;654;594	ENSP00000261383:S654Y;ENSP00000394245:S654Y	ENSP00000261383:S654Y	S	-	2	0	DNAH3	21030586	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.781000	0.62389	2.652000	0.90054	0.585000	0.79938	TCC		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539	
DNAJB4	11080	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	78478852	78478852	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:78478852T>C	ENST00000370763.5	+	2	586	c.329T>C	c.(328-330)aTt>aCt	p.I110T	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	110					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCCTTTGAAATTTTCTTTGGA	0.448																																																	0													128.0	133.0	132.0					1																	78478852		2203	4300	6503	SO:0001583	missense	11080			U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.329T>C	1.37:g.78478852T>C	ENSP00000359799:p.Ile110Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	CCDS684.1	.	.	.	.	.	.	.	.	.	.	T	8.222	0.802791	0.16397	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.72942	-0.7;-0.7	5.38	4.24	0.50183	.	0.165132	0.56097	D	0.000026	T	0.35653	0.0939	N	0.25789	0.76	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19321	-1.0309	10	0.15066	T	0.55	.	11.2203	0.48851	0.0:0.0721:0.0:0.9279	.	110	Q9UDY4	DNJB4_HUMAN	T	110	ENSP00000399494:I110T;ENSP00000359799:I110T	ENSP00000359799:I110T	I	+	2	0	DNAJB4	78251440	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.110000	0.64622	0.867000	0.35654	0.524000	0.50904	ATT		0.448	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			
E2F8	79733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	19247052	19247052	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:19247052C>T	ENST00000527884.1	-	12	2369	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R	E2F8_ENST00000250024.4_Missense_Mutation_p.G713R|E2F8_ENST00000529188.1_5'Flank|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	713					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGCTGTTCCCGACAGGTACG	0.522																																																	0													79.0	74.0	76.0					11																	19247052		2199	4293	6492	SO:0001583	missense	79733				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.2137G>A	11.37:g.19247052C>T	ENSP00000434199:p.Gly713Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267982	0.59540	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.21361	2.01;2.01	5.98	5.98	0.97165	.	0.639220	0.16959	N	0.192585	T	0.27798	0.0684	L	0.46157	1.445	0.29841	N	0.829239	D	0.61697	0.99	P	0.51055	0.657	T	0.16247	-1.0409	10	0.51188	T	0.08	-17.8016	10.0214	0.42046	0.0:0.7878:0.1394:0.0728	.	713	A0AVK6	E2F8_HUMAN	R	713	ENSP00000434199:G713R;ENSP00000250024:G713R	ENSP00000250024:G713R	G	-	1	0	E2F8	19203628	0.903000	0.30736	1.000000	0.80357	0.994000	0.84299	1.956000	0.40382	2.838000	0.97847	0.591000	0.81541	GGG		0.522	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1		NM_024680	
EHD3	30845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	31484438	31484438	+	Silent	SNP	T	T	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:31484438T>C	ENST00000322054.5	+	5	1224	c.939T>C	c.(937-939)tcT>tcC	p.S313S	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	313					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TCATCAGCTCTCTGAAGAAGG	0.562																																																	0													139.0	126.0	130.0					2																	31484438		2203	4300	6503	SO:0001819	synonymous_variant	30845			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.939T>C	2.37:g.31484438T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	CCDS1774.1																																																																																				0.562	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1		NM_014600	
ENHO	375704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	34521629	34521629	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:34521629A>C	ENST00000399775.2	-	2	490	c.65T>G	c.(64-66)tTg>tGg	p.L22W	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	22						extracellular region (GO:0005576)				endometrium(1)|lung(1)	2						CAGCAGCAGCAAGAAGCCCAC	0.632																																																	0													49.0	65.0	60.0					9																	34521629		2193	4281	6474	SO:0001583	missense	375704			BC022101	CCDS43795.1	9p13.3	2008-12-10	2008-12-10	2008-12-10	ENSG00000168913	ENSG00000168913			24838	protein-coding gene	gene with protein product	"""adropin"""		"""chromosome 9 open reading frame 165"""	C9orf165		12975309, 19041763	Standard	NM_198573		Approved	UNQ470	uc003zun.1	Q6UWT2	OTTHUMG00000159589	ENST00000399775.2:c.65T>G	9.37:g.34521629A>C	ENSP00000382675:p.Leu22Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N666	Missense_Mutation	SNP	ENST00000399775.2	37	CCDS43795.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.607487	0.46527	.	.	ENSG00000168913	ENST00000399775;ENST00000303992	.	.	.	4.46	4.46	0.54185	.	0.000000	0.31542	N	0.007471	T	0.64438	0.2598	.	.	.	0.26634	N	0.972413	D	0.76494	0.999	D	0.78314	0.991	T	0.58584	-0.7611	8	0.87932	D	0	.	10.0515	0.42219	1.0:0.0:0.0:0.0	.	22	Q6UWT2	ENHO_HUMAN	W	22	.	ENSP00000305955:L22W	L	-	2	0	ENHO	34511629	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.609000	0.67661	1.874000	0.54306	0.374000	0.22700	TTG		0.632	ENHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356348.1		NM_198573	
ENO1	2023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	8926510	8926510	+	Missense_Mutation	SNP	C	C	A	rs11544509		TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:8926510C>A	ENST00000234590.4	-	7	614	c.495G>T	c.(493-495)atG>atT	p.M165I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	165	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGAACTCCTGCATGGCCAGCT	0.547																																					Esophageal Squamous(21;302 608 19946 22210 33560)												0													113.0	108.0	109.0					1																	8926510		2203	4300	6503	SO:0001583	missense	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.495G>T	1.37:g.8926510C>A	ENSP00000234590:p.Met165Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	CCDS97.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914938	0.92178	.	.	ENSG00000074800	ENST00000234590	T	0.49432	0.78	5.33	5.33	0.75918	Enolase, C-terminal (1);	0.039097	0.85682	N	0.000000	T	0.54854	0.1884	L	0.44542	1.39	0.58432	D	0.999995	B;B;P;B;B	0.44986	0.234;0.352;0.847;0.196;0.146	B;P;P;B;B	0.51101	0.385;0.652;0.659;0.266;0.385	T	0.57997	-0.7714	10	0.87932	D	0	-31.7932	18.013	0.89230	0.0:1.0:0.0:0.0	.	69;132;3;72;165	E2DRY6;A4UCS8;Q9BT62;P06733-2;P06733	.;.;.;.;ENOA_HUMAN	I	165	ENSP00000234590:M165I	ENSP00000234590:M165I	M	-	3	0	ENO1	8849097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.784000	0.85713	2.492000	0.84095	0.563000	0.77884	ATG		0.547	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1		NM_001428	
EPYC	1833	broad.mit.edu;hgsc.bcm.edu	37	12	91366748	91366748	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:91366748G>C	ENST00000261172.3	-	4	442	c.350C>G	c.(349-351)aCc>aGc	p.T117S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	117	LRRNT.				female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CAAAAGACAGGTTGGAAAGTC	0.343																																																	0													94.0	98.0	97.0					12																	91366748		2203	4300	6503	SO:0001583	missense	1833			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.350C>G	12.37:g.91366748G>C	ENSP00000261172:p.Thr117Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246295	0.59103	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.02158	4.42;4.42	5.79	5.79	0.91817	Leucine-rich repeat-containing N-terminal (1);	0.091769	0.85682	D	0.000000	T	0.04679	0.0127	L	0.55103	1.725	0.49389	D	0.999784	P	0.42357	0.777	B	0.39562	0.303	T	0.43750	-0.9372	10	0.48119	T	0.1	.	20.0417	0.97594	0.0:0.0:1.0:0.0	.	117	Q99645	EPYC_HUMAN	S	117	ENSP00000261172:T117S;ENSP00000448272:T117S	ENSP00000261172:T117S	T	-	2	0	EPYC	89890879	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	3.584000	0.53936	2.736000	0.93811	0.655000	0.94253	ACC		0.343	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2		NM_004950	
FBF1	85302	broad.mit.edu;hgsc.bcm.edu	37	17	73913852	73913852	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:73913852C>T	ENST00000586717.1	-	22	2697	c.2424G>A	c.(2422-2424)atG>atA	p.M808I	FBF1_ENST00000319129.5_Missense_Mutation_p.M807I|FBF1_ENST00000389570.4_Missense_Mutation_p.M808I			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	808					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GCCGTGCCTCCATCTTCCCGA	0.697																																																	0													33.0	37.0	35.0					17																	73913852		2094	4217	6311	SO:0001583	missense	85302			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2424G>A	17.37:g.73913852C>T	ENSP00000465132:p.Met808Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37		.	.	.	.	.	.	.	.	.	.	C	18.42	3.621184	0.66787	.	.	ENSG00000188878	ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.26067	1.76;1.76	4.92	4.92	0.64577	.	.	.	.	.	T	0.43299	0.1241	M	0.72894	2.215	0.53688	D	0.99997	P;P;P	0.50943	0.925;0.94;0.873	P;P;P	0.52109	0.453;0.69;0.461	T	0.44205	-0.9343	9	0.56958	D	0.05	-17.665	17.7122	0.88325	0.0:1.0:0.0:0.0	.	822;808;807	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	I	808;807;821	ENSP00000374221:M808I;ENSP00000324292:M807I	ENSP00000324292:M807I	M	-	3	0	FBF1	71425447	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	7.161000	0.77505	2.281000	0.76405	0.491000	0.48974	ATG		0.697	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2		NM_001080542	
FOLH1B	219595	hgsc.bcm.edu	37	11	89424222	89424223	+	RNA	INS	-	-	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:89424222_89424223insT	ENST00000532352.1	+	0	1685_1686							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GATTGTCGAGATTATGCTGTAG	0.376																																																	0																																												219595			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424224_89424224dupT		Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000532352.1	37																																																																																					0.376	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1		NM_153696	
FOXK1	221937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	4796681	4796681	+	Silent	SNP	C	C	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:4796681C>G	ENST00000328914.4	+	5	1107	c.1107C>G	c.(1105-1107)tcC>tcG	p.S369S	FOXK1_ENST00000446823.1_Silent_p.S206S	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCCCACGTTCCCAGGAGGAGC	0.527																																																	0													75.0	81.0	79.0					7																	4796681		2203	4300	6503	SO:0001819	synonymous_variant	221937			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1107C>G	7.37:g.4796681C>G		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000328914.4	37	CCDS34591.1																																																																																				0.527	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			
FRS2	10818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	69965989	69965989	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:69965989delT	ENST00000550389.1	+	6	750	c.504delT	c.(502-504)cctfs	p.P168fs	FRS2_ENST00000299293.2_Frame_Shift_Del_p.P168fs|FRS2_ENST00000397997.2_Frame_Shift_Del_p.P168fs|FRS2_ENST00000549921.1_Frame_Shift_Del_p.P168fs	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	168					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCAGACATCCTTCTGTGGGAA	0.478																																																	0													130.0	124.0	126.0					12																	69965989		1979	4158	6137	SO:0001589	frameshift_variant	10818			AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.504delT	12.37:g.69965989delT	ENSP00000447241:p.Pro168fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0LPF2|B2R684|O43558|Q7LDQ6	Frame_Shift_Del	DEL	ENST00000550389.1	37	CCDS41809.1																																																																																				0.478	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1		NM_006654	
MAD1L1	8379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	2274853	2274853	+	5'Flank	SNP	T	T	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:2274853T>A	ENST00000406869.1	-	0	0				FTSJ2_ENST00000407040.1_Silent_p.V121V|FTSJ2_ENST00000486040.1_5'UTR|MAD1L1_ENST00000402746.1_5'Flank|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000242257.8_Silent_p.V215V|MAD1L1_ENST00000399654.2_5'Flank|MAD1L1_ENST00000265854.7_5'Flank			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TGATGATCCTTACATTCTGGA	0.502																																																	0													116.0	107.0	110.0					7																	2274853		2203	4300	6503	SO:0001631	upstream_gene_variant	29960			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2274853T>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	CCDS43539.1																																																																																				0.502	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1		NM_003550	
GALNT3	2591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	166611170	166611170	+	Silent	SNP	A	A	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:166611170A>T	ENST00000392701.3	-	9	2368	c.1593T>A	c.(1591-1593)atT>atA	p.I531I	GALNT3_ENST00000409882.1_Silent_p.I269I	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	531	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ATGTATACATAATTAATGGTT	0.368																																																	0													100.0	95.0	97.0					2																	166611170		2203	4300	6503	SO:0001819	synonymous_variant	2591				CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1593T>A	2.37:g.166611170A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q53TG9|Q7Z476	Silent	SNP	ENST00000392701.3	37	CCDS2226.1																																																																																				0.368	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2		NM_004482	
GLCCI1	113263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	8126006	8126006	+	Silent	SNP	T	T	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:8126006T>G	ENST00000223145.5	+	8	2039	c.1482T>G	c.(1480-1482)gtT>gtG	p.V494V		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	494						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CTCTGACCGTTGAGCAGCTCT	0.557																																																	0													191.0	209.0	203.0					7																	8126006		2203	4300	6503	SO:0001819	synonymous_variant	113263			BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1482T>G	7.37:g.8126006T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A4D103|Q96FD0	Silent	SNP	ENST00000223145.5	37	CCDS34601.1																																																																																				0.557	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1		NM_138426	
GOLIM4	27333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	167750471	167750471	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:167750471T>G	ENST00000470487.1	-	9	1702	c.1013A>C	c.(1012-1014)gAg>gCg	p.E338A	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E310A	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	338	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTTTCTGTGCTCCTCTTCCAC	0.552																																																	0													176.0	164.0	168.0					3																	167750471		2203	4300	6503	SO:0001583	missense	27333			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1013A>C	3.37:g.167750471T>G	ENSP00000417354:p.Glu338Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000470487.1	37	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.453888	0.84209	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.24	5.24	0.73138	.	0.094831	0.64402	D	0.000001	T	0.71771	0.3379	M	0.74881	2.28	0.58432	D	0.999997	D;D	0.63046	0.984;0.992	P;P	0.57152	0.701;0.814	T	0.69892	-0.5022	9	0.12103	T	0.63	-21.2002	14.832	0.70156	0.0:0.0:0.0:1.0	.	310;338	F8W785;O00461	.;GOLI4_HUMAN	A	338;310	.	ENSP00000309893:E310A	E	-	2	0	GOLIM4	169233165	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.365000	0.66116	1.993000	0.58246	0.449000	0.29647	GAG		0.552	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			
GULP1	51454	broad.mit.edu;hgsc.bcm.edu	37	2	189458666	189458666	+	Splice_Site	SNP	G	G	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:189458666G>A	ENST00000409580.1	+	13	1557		c.e13-1		GULP1_ENST00000409805.1_Splice_Site|GULP1_ENST00000409609.1_Splice_Site|GULP1_ENST00000409843.1_Splice_Site|GULP1_ENST00000409830.1_Splice_Site|GULP1_ENST00000359135.3_Splice_Site			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1						apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CTGTTTTACAGGAGGGGTTCA	0.338																																					Pancreas(178;563 2065 20199 42378 52815)												0													89.0	92.0	91.0					2																	189458666		2203	4300	6503	SO:0001630	splice_region_variant	51454			AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.844-1G>A	2.37:g.189458666G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Splice_Site	SNP	ENST00000409580.1	37	CCDS2295.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400570	0.83120	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609;ENST00000433052	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7667	0.91876	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GULP1	189166911	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.476000	0.97823	2.675000	0.91044	0.655000	0.94253	.		0.338	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1		NM_016315	Intron
HEPH	9843	hgsc.bcm.edu	37	X	65393494	65393495	+	Frame_Shift_Ins	INS	-	-	C	rs200581468		TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chrX:65393494_65393495insC	ENST00000343002.2	+	3	1140_1141	c.476_477insC	c.(475-480)ggcagcfs	p.S160fs	HEPH_ENST00000441993.2_Frame_Shift_Ins_p.S163fs|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000374727.3_Frame_Shift_Ins_p.S163fs|HEPH_ENST00000519389.1_Frame_Shift_Ins_p.S214fs|HEPH_ENST00000419594.1_Frame_Shift_Ins_p.S163fs			Q9BQS7	HEPH_HUMAN	hephaestin	160	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCCCGGGGGGCAGCCATATCT	0.535																																																	0																																										SO:0001589	frameshift_variant	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.477dupC	X.37:g.65393495_65393495dupC	ENSP00000343939:p.Ser160fs	Somatic		WXS	Illumina HiSeq	Phase_I	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Frame_Shift_Ins	INS	ENST00000343002.2	37																																																																																					0.535	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1		NM_138737	
HFM1	164045	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	91818686	91818686	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:91818686A>G	ENST00000370425.3	-	15	1851	c.1753T>C	c.(1753-1755)Tat>Cat	p.Y585H	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.Y264H|HFM1_ENST00000462405.1_5'Flank	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	585	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCATGATGATAAGCAGCACCA	0.328																																																	0													90.0	82.0	85.0					1																	91818686		1821	4078	5899	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1753T>C	1.37:g.91818686A>G	ENSP00000359454:p.Tyr585His	Somatic		WXS	Illumina HiSeq	Phase_I	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395686	0.83011	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;T	0.57273	0.41;0.41	5.93	5.93	0.95920	Helicase, C-terminal (3);	0.000000	0.38720	U	0.001583	T	0.63522	0.2518	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	T	0.66520	-0.5903	10	0.59425	D	0.04	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	264;585	A6NGI5;A2PYH4	.;HFM1_HUMAN	H	585;264;269;618	ENSP00000359454:Y585H;ENSP00000359453:Y264H	ENSP00000359450:Y269H	Y	-	1	0	HFM1	91591274	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	8.877000	0.92386	2.263000	0.75096	0.533000	0.62120	TAT		0.328	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2		NM_001017975	
HSP90AB1	3326	broad.mit.edu;hgsc.bcm.edu	37	6	44218220	44218220	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:44218220G>A	ENST00000371554.1	+	6	1055	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E281K|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E281K			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	281					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGATCAGGAAGAACTAAACAA	0.423																																																	0													80.0	77.0	78.0					6																	44218220		2203	4300	6503	SO:0001583	missense	3326			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.841G>A	6.37:g.44218220G>A	ENSP00000360609:p.Glu281Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072379	0.76415	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.10005	2.92;2.92;2.92	4.41	4.41	0.53225	ATPase-like, ATP-binding domain (1);	0.000000	0.64402	U	0.000002	T	0.16599	0.0399	M	0.78344	2.41	0.80722	D	1	P;P;B	0.50369	0.934;0.616;0.359	P;B;B	0.50049	0.629;0.444;0.261	T	0.03060	-1.1077	10	0.72032	D	0.01	-17.0994	17.0182	0.86425	0.0:0.0:1.0:0.0	.	243;271;281	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	K	281	ENSP00000360709:E281K;ENSP00000325875:E281K;ENSP00000360609:E281K	ENSP00000325875:E281K	E	+	1	0	HSP90AB1	44326198	1.000000	0.71417	0.881000	0.34555	0.748000	0.42578	9.773000	0.98989	2.018000	0.59344	0.460000	0.39030	GAA		0.423	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1		NM_007355	
HSPA12A	259217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	118434631	118434631	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:118434631C>G	ENST00000369209.3	-	12	1793	c.1689G>C	c.(1687-1689)tgG>tgC	p.W563C	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	563						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CGTCGGTGCACCACCGAGTGC	0.642																																																	0													47.0	54.0	52.0					10																	118434631		2132	4226	6358	SO:0001583	missense	259217			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1689G>C	10.37:g.118434631C>G	ENSP00000358211:p.Trp563Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000369209.3	37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283595	0.80803	.	.	ENSG00000165868	ENST00000369209	T	0.46063	0.88	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69331	-0.5173	10	0.66056	D	0.02	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	563	O43301	HS12A_HUMAN	C	563	ENSP00000358211:W563C	ENSP00000358211:W563C	W	-	3	0	HSPA12A	118424621	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	TGG		0.642	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1		NM_025015	
HTT	3064	hgsc.bcm.edu;ucsc.edu	37	4	3117148	3117160	+	Frame_Shift_Del	DEL	AGTTGGCTACTAA	AGTTGGCTACTAA	-			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	AGTTGGCTACTAA	AGTTGGCTACTAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:3117148_3117160delAGTTGGCTACTAA	ENST00000355072.5	+	7	1010_1022	c.865_877delAGTTGGCTACTAA	c.(865-879)agttggctactaaatfs	p.SWLLN289fs		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	289					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATATTTCTATAGTTGGCTACTAAATGTGCTCTT	0.469																																																	0																																										SO:0001589	frameshift_variant	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.865_877delAGTTGGCTACTAA	4.37:g.3117148_3117160delAGTTGGCTACTAA	ENSP00000347184:p.Ser289fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UQB7	Frame_Shift_Del	DEL	ENST00000355072.5	37	CCDS43206.1																																																																																				0.469	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		NM_002111	
IPP	3652	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	46180107	46180115	+	In_Frame_Del	DEL	ATTGCTGAT	ATTGCTGAT	-			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	ATTGCTGAT	ATTGCTGAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:46180107_46180115delATTGCTGAT	ENST00000396478.3	-	8	1435_1443	c.1333_1341delATCAGCAAT	c.(1333-1341)atcagcaatdel	p.ISN445del	IPP_ENST00000495072.1_5'Flank	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	445						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CTATTCCTTCATTGCTGATGCCCCCAATT	0.388																																																	0																																										SO:0001651	inframe_deletion	3652			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1333_1341delATCAGCAAT	1.37:g.46180107_46180115delATTGCTGAT	ENSP00000379739:p.Ile445_Asn447del	Somatic		WXS	Illumina HiSeq	Phase_I	A2A6V4|D3DQ11|Q8N5C3	In_Frame_Del	DEL	ENST00000396478.3	37	CCDS30702.1																																																																																				0.388	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3		NM_005897	
KIF16B	55614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	16359478	16359478	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:16359478G>C	ENST00000354981.2	-	19	3326	c.3169C>G	c.(3169-3171)Cag>Gag	p.Q1057E	KIF16B_ENST00000378003.2_Missense_Mutation_p.Q283E|KIF16B_ENST00000408042.1_Missense_Mutation_p.Q1057E|KIF16B_ENST00000355755.3_Missense_Mutation_p.Q1057E	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1057	Glu-rich.			EQ -> SE (in Ref. 6; AAH34984). {ECO:0000305}.	ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.Q1057*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGGGCTTCCTGCTCAGCCTCC	0.557																																																	1	Substitution - Nonsense(1)	large_intestine(1)											106.0	105.0	105.0					20																	16359478		2203	4300	6503	SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3169C>G	20.37:g.16359478G>C	ENSP00000347076:p.Gln1057Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.584941	0.28268	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.70282	-0.4;-0.36;2.47;-0.47	5.39	4.42	0.53409	.	0.536274	0.21158	N	0.079215	T	0.60702	0.2289	L	0.46157	1.445	0.26759	N	0.970039	B;B;B;B	0.33883	0.091;0.43;0.018;0.025	B;B;B;B	0.33254	0.073;0.16;0.029;0.036	T	0.51639	-0.8680	10	0.05833	T	0.94	.	15.6417	0.77009	0.0:0.1428:0.8572:0.0	.	1057;1057;1057;1057	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	E	1057;1057;901;283;1057	ENSP00000347076:Q1057E;ENSP00000347995:Q1057E;ENSP00000367242:Q283E;ENSP00000384164:Q1057E	ENSP00000347076:Q1057E	Q	-	1	0	KIF16B	16307478	0.995000	0.38212	0.254000	0.24359	0.687000	0.40016	3.352000	0.52239	1.366000	0.46076	0.643000	0.83706	CAG		0.557	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2		NM_017683	
KLHL26	55295	hgsc.bcm.edu	37	19	18778933	18778937	+	Frame_Shift_Del	DEL	GCGCG	GCGCG	-	rs377060784|rs200541637		TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	GCGCG	GCGCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:18778933_18778937delGCGCG	ENST00000300976.4	+	3	816_820	c.726_730delGCGCG	c.(724-732)ccgcgcgccfs	p.RA243fs	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	243	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						cccggcggccgcgcgccAGCCACGT	0.673																																																	0										15,4021		2,11,2005						2.9	0.4			15	37,7813		3,31,3891	no	frameshift	KLHL26	NM_018316.1		5,42,5896	A1A1,A1R,RR		0.4713,0.3717,0.4375				52,11834				SO:0001589	frameshift_variant	55295				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.726_730delGCGCG	19.37:g.18778933_18778937delGCGCG	ENSP00000300976:p.Arg243fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TAP0|Q9NUX3	Frame_Shift_Del	DEL	ENST00000300976.4	37	CCDS12384.1																																																																																				0.673	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1		NM_018316	
LDHAL6B	92483	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59499176	59499176	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:59499176A>T	ENST00000307144.4	+	1	135	c.37A>T	c.(37-39)Aga>Tga	p.R13*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	13					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GGCCAGCCAGAGAGTGAGCTC	0.587																																																	0													39.0	37.0	38.0					15																	59499176		2191	4290	6481	SO:0001587	stop_gained	92483			AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.37A>T	15.37:g.59499176A>T	ENSP00000302393:p.Arg13*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6DUY4|Q96LI2	Nonsense_Mutation	SNP	ENST00000307144.4	37	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780536	0.49891	.	.	ENSG00000171989	ENST00000307144	.	.	.	1.49	-1.85	0.07784	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.0825	0.03638	0.3868:0.3445:0.2687:0.0	.	.	.	.	X	13	.	ENSP00000302393:R13X	R	+	1	2	LDHAL6B	57286468	0.095000	0.21747	0.001000	0.08648	0.093000	0.18481	0.391000	0.20784	-0.315000	0.08703	0.254000	0.18369	AGA		0.587	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1		NM_033195	
LILRB4	11006	hgsc.bcm.edu	37	19	55179244	55179244	+	Splice_Site	DEL	G	G	-	rs571881532|rs386810941	byFrequency	TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:55179244delG	ENST00000391736.1	+	13	1515	c.1200delG	c.(1198-1200)gag>ga	p.E400fs	LILRB4_ENST00000270452.2_Splice_Site_p.E400fs|LILRB4_ENST00000391733.3_Splice_Site_p.E401fs|LILRB4_ENST00000430952.2_Splice_Site_p.E399fs|LILRB4_ENST00000391734.3_Intron	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	400					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGGACACTGAGGTGAGTCCTT	0.617													?|GG|G|unsure	97	0.019369	0.0461	0.0144	5008	,	,		16664	0.002		0.0169	False		,,,				2504	0.0072																0									,	175,4085		12,151,1967	99.0	93.0	95.0		,	1.0	0.0	19		95	101,8151		5,91,4030	no	frameshift-near-splice,frameshift-near-splice	LILRB4	NM_006847.3,NM_001081438.1	,	17,242,5997	A1A1,A1R,RR		1.2239,4.108,2.2059	,	,	55179244	276,12236	2193	4296	6489	SO:0001630	splice_region_variant	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1200+1G>-	19.37:g.55179244delG		Somatic		WXS	Illumina HiSeq	Phase_I	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Frame_Shift_Del	DEL	ENST00000391736.1	37	CCDS12902.1																																																																																				0.617	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			Frame_Shift_Del
LRRC32	2615	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	76371567	76371567	+	Missense_Mutation	SNP	C	C	T	rs370963014		TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:76371567C>T	ENST00000407242.2	-	3	1312	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.R357Q|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.R357Q	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	357					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCCTAAGCGCCGGGCCTCAAA	0.592																																																	0								C	GLN/ARG,GLN/ARG	0,4400		0,0,2200	27.0	27.0	27.0		1070,1070	-5.7	0.0	11		27	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense	LRRC32	NM_001128922.1,NM_005512.2	43,43	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	357/663,357/663	76371567	1,12983	2200	4292	6492	SO:0001583	missense	2615			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1070G>A	11.37:g.76371567C>T	ENSP00000384126:p.Arg357Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	4.845	0.157125	0.09236	0.0	1.16E-4	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.04454	3.62;3.62;3.62	4.26	-5.69	0.02428	.	1.370670	0.04641	N	0.405255	T	0.02342	0.0072	N	0.04636	-0.2	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47018	-0.9149	10	0.26408	T	0.33	.	8.6358	0.33948	0.0:0.223:0.1952:0.5819	.	357	Q14392	LRC32_HUMAN	Q	357	ENSP00000260061:R357Q;ENSP00000384126:R357Q;ENSP00000385766:R357Q	ENSP00000260061:R357Q	R	-	2	0	LRRC32	76049215	0.000000	0.05858	0.001000	0.08648	0.749000	0.42624	-3.183000	0.00568	-1.172000	0.02762	0.484000	0.47621	CGG		0.592	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2		NM_005512	
MAP2K7	5609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7977212	7977212	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:7977212C>A	ENST00000397979.3	+	11	1210	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M	MAP2K7_ENST00000397981.3_Missense_Mutation_p.L393M|MAP2K7_ENST00000397983.3_Missense_Mutation_p.L402M|MAP2K7_ENST00000545011.1_Missense_Mutation_p.L428M|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	386	DVD domain.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CTACGAGACGCTGGAGGTGGA	0.652																																																	0													54.0	66.0	62.0					19																	7977212		2157	4245	6402	SO:0001583	missense	5609			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.1156C>A	19.37:g.7977212C>A	ENSP00000381066:p.Leu386Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556650	0.45487	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	T;T;T;T	0.71341	-0.43;-0.56;-0.51;-0.56	4.54	3.47	0.39725	Protein kinase-like domain (1);	0.332170	0.25708	N	0.028825	T	0.52980	0.1768	N	0.14661	0.345	0.21579	N	0.999631	P;P	0.41102	0.738;0.62	B;B	0.43889	0.435;0.252	T	0.46952	-0.9154	10	0.51188	T	0.08	-8.1728	5.8257	0.18552	0.1906:0.7091:0.0:0.1003	.	393;386	O14733-4;O14733	.;MP2K7_HUMAN	M	393;402;428;402;386	ENSP00000381068:L393M;ENSP00000381070:L402M;ENSP00000443946:L428M;ENSP00000381066:L386M	ENSP00000381066:L386M	L	+	1	2	MAP2K7	7883212	0.727000	0.28069	0.988000	0.46212	0.672000	0.39443	0.911000	0.28584	2.356000	0.79943	0.511000	0.50034	CTG		0.652	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			
MAP4	4134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	48019414	48019414	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:48019414G>A	ENST00000360240.6	-	3	751	c.233C>T	c.(232-234)tCt>tTt	p.S78F	MAP4_ENST00000434267.1_Missense_Mutation_p.S78F|MAP4_ENST00000395734.3_Missense_Mutation_p.S78F|MAP4_ENST00000426837.2_Missense_Mutation_p.S95F|MAP4_ENST00000439356.1_Missense_Mutation_p.S78F|MAP4_ENST00000383737.4_Missense_Mutation_p.S78F	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	78					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGTTTAGAAGATGGAGTATC	0.408																																																	0													208.0	186.0	193.0					3																	48019414		2203	4300	6503	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.233C>T	3.37:g.48019414G>A	ENSP00000353375:p.Ser78Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	CCDS33750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.003567|4.003567	0.74932|0.74932	.|.	.|.	ENSG00000047849|ENSG00000047849	ENST00000423088|ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000434267;ENST00000439356	.|T;T;T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86;1.23;1.23	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|.	.|.	.|.	.|.	T|T	0.62356|0.62356	0.2421|0.2421	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.995;0.997;0.996	.|P;D;P	.|0.66847	.|0.742;0.947;0.862	T|T	0.65038|0.65038	-0.6265|-0.6265	5|9	.|0.87932	.|D	.|0	-2.3186|-2.3186	13.2732|13.2732	0.60172|0.60172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|78;78;78	.|Q86V26;P27816-6;P27816	.|.;.;MAP4_HUMAN	F|F	85|78;78;95;78;78;78	.|ENSP00000373243:S78F;ENSP00000379083:S78F;ENSP00000407602:S95F;ENSP00000353375:S78F;ENSP00000402767:S78F;ENSP00000397414:S78F	.|ENSP00000353375:S78F	L|S	-|-	1|2	0|0	MAP4|MAP4	47994418|47994418	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.879000|0.879000	0.50718|0.50718	5.255000|5.255000	0.65462|0.65462	2.587000|2.587000	0.87381|0.87381	0.460000|0.460000	0.39030|0.39030	CTT|TCT		0.408	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1		NM_002375	
MAVS	57506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3845153	3845153	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:3845153C>T	ENST00000428216.2	+	6	1004	c.876C>T	c.(874-876)aaC>aaT	p.N292N	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.N151N	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	292					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACCTGCCAACTCTCTGCCCT	0.602																																																	0													87.0	75.0	79.0					20																	3845153		2203	4300	6503	SO:0001819	synonymous_variant	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.876C>T	20.37:g.3845153C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	37	CCDS33437.1																																																																																				0.602	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3		NM_020746	
MFSD6	54842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	191301590	191301590	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:191301590T>C	ENST00000392328.1	+	3	1159	c.835T>C	c.(835-837)Tat>Cat	p.Y279H	MFSD6_ENST00000281416.7_Missense_Mutation_p.Y279H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	279					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CATGCTTGTTTATGATCAACA	0.428																																																	0													242.0	227.0	232.0					2																	191301590		2203	4300	6503	SO:0001583	missense	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.835T>C	2.37:g.191301590T>C	ENSP00000376141:p.Tyr279His	Somatic		WXS	Illumina HiSeq	Phase_I	D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150078	0.57151	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	D;D	0.81908	-1.55;-1.55	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.113338	0.64402	D	0.000007	D	0.89143	0.6631	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88192	0.2878	10	0.39692	T	0.17	-16.7878	15.8088	0.78538	0.0:0.0:0.0:1.0	.	279	Q6ZSS7	MFSD6_HUMAN	H	279	ENSP00000376141:Y279H;ENSP00000281416:Y279H	ENSP00000281416:Y279H	Y	+	1	0	MFSD6	191009835	1.000000	0.71417	0.990000	0.47175	0.357000	0.29423	8.040000	0.89188	2.330000	0.79161	0.528000	0.53228	TAT		0.428	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			
MSC	9242	broad.mit.edu;hgsc.bcm.edu	37	8	72756043	72756043	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr8:72756043C>G	ENST00000325509.4	-	1	660	c.371G>C	c.(370-372)aGc>aCc	p.S124T	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000524152.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	124	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GAAGGCTTTGCTCAGCACGCG	0.667											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													31.0	32.0	31.0					8																	72756043		2203	4300	6503	SO:0001583	missense	9242				CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.371G>C	8.37:g.72756043C>G	ENSP00000321445:p.Ser124Thr	Somatic	1140	WXS	Illumina HiSeq	Phase_I	O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279587	0.80692	.	.	ENSG00000178860	ENST00000325509	D	0.97906	-4.6	4.87	3.99	0.46301	Helix-loop-helix DNA-binding (5);	0.087210	0.85682	D	0.000000	D	0.97476	0.9174	L	0.41492	1.28	0.80722	D	1	D	0.67145	0.996	D	0.63488	0.915	D	0.97794	1.0240	10	0.72032	D	0.01	.	14.5247	0.67878	0.1477:0.8523:0.0:0.0	.	124	O60682	MUSC_HUMAN	T	124	ENSP00000321445:S124T	ENSP00000321445:S124T	S	-	2	0	MSC	72918597	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.164000	0.50770	1.034000	0.39945	0.555000	0.69702	AGC		0.667	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1		NM_005098	
KAT6B	23522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	76748798	76748798	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:76748798T>A	ENST00000287239.4	+	13	3046	c.2557T>A	c.(2557-2559)Tat>Aat	p.Y853N	KAT6B_ENST00000372725.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y561N|KAT6B_ENST00000372711.1_Missense_Mutation_p.Y670N|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372714.1_Missense_Mutation_p.Y561N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	853	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCAGCAGAAGTATAATGTCTC	0.448																																																	0													158.0	156.0	157.0					10																	76748798		2203	4300	6503	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2557T>A	10.37:g.76748798T>A	ENSP00000287239:p.Tyr853Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245887	0.39697	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.79141	-1.17;-1.17;-1.24;-1.17;-1.21	5.85	4.71	0.59529	.	0.150617	0.30879	N	0.008689	D	0.82379	0.5024	L	0.49513	1.565	0.58432	D	0.999999	D;P;D	0.71674	0.997;0.915;0.998	P;B;P	0.62491	0.903;0.403;0.835	T	0.82633	-0.0361	10	0.59425	D	0.04	-10.4689	11.9333	0.52860	0.0:0.0683:0.0:0.9317	.	670;561;853	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	N	561;561;853;561;670	ENSP00000361810:Y561N;ENSP00000361809:Y561N;ENSP00000287239:Y853N;ENSP00000361799:Y561N;ENSP00000361796:Y670N	ENSP00000287239:Y853N	Y	+	1	0	KAT6B	76418804	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.036000	0.88901	1.022000	0.39626	0.528000	0.53228	TAT		0.448	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1		NM_012330	
NCOA1	8648	hgsc.bcm.edu;ucsc.edu	37	2	24929598	24929598	+	Missense_Mutation	SNP	G	G	A	rs371834198		TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:24929598G>A	ENST00000406961.1	+	13	1911	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	NCOA1_ENST00000405141.1_Missense_Mutation_p.R420H|NCOA1_ENST00000348332.3_Missense_Mutation_p.R420H|NCOA1_ENST00000288599.5_Missense_Mutation_p.R420H|NCOA1_ENST00000407230.1_Missense_Mutation_p.R269H|NCOA1_ENST00000395856.3_Missense_Mutation_p.R420H|NCOA1_ENST00000538539.1_Missense_Mutation_p.R420H			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	420	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAATAAACCGCCAGCAGAGC	0.488			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	82.0	81.0	82.0		1259,1259,1259	3.6	1.0	2		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NCOA1	NM_003743.4,NM_147223.2,NM_147233.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	420/1442,420/1400,420/1441	24929598	1,13005	2203	4300	6503	SO:0001583	missense	8648			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1259G>A	2.37:g.24929598G>A	ENSP00000385216:p.Arg420His	Somatic		WXS	Illumina HiSeq	Phase_I	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	7.291	0.611093	0.14066	0.0	1.16E-4	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.01963	4.63;4.63;4.53;4.63;4.63;4.63;4.63	4.49	3.61	0.41365	.	0.370230	0.28952	N	0.013613	T	0.01353	0.0044	N	0.16478	0.41	0.28936	N	0.891275	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.45279	-0.9272	10	0.15499	T	0.54	.	4.4026	0.11393	0.2998:0.0:0.7002:0.0	.	420;420;420;269	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	H	420;420;269;420;420;420;420	ENSP00000385216:R420H;ENSP00000385097:R420H;ENSP00000385195:R269H;ENSP00000444039:R420H;ENSP00000320940:R420H;ENSP00000288599:R420H;ENSP00000379197:R420H	ENSP00000288599:R420H	R	+	2	0	NCOA1	24783102	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.412000	0.59787	2.485000	0.83878	0.655000	0.94253	CGC		0.488	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3		NM_147223	
NF1	4763	broad.mit.edu;hgsc.bcm.edu	37	17	29556075	29556075	+	Silent	SNP	G	G	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:29556075G>A	ENST00000358273.4	+	21	2825	c.2442G>A	c.(2440-2442)aaG>aaA	p.K814K	NF1_ENST00000356175.3_Silent_p.K814K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	814					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCATTGTTAAGAGGCGAATGT	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)											38.0	35.0	36.0					17																	29556075		2202	4299	6501	SO:0001819	synonymous_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2442G>A	17.37:g.29556075G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																				0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267	
NF1	4763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	29687570	29687570	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:29687570C>G	ENST00000358273.4	+	57	8609	c.8226C>G	c.(8224-8226)taC>taG	p.Y2742*	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Nonsense_Mutation_p.Y535*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Y2721*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2742					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGACACGTACCTGCCTGGAA	0.428			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											175.0	167.0	169.0					17																	29687570		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8226C>G	17.37:g.29687570C>G	ENSP00000351015:p.Tyr2742*	Somatic		WXS	Illumina HiSeq	Phase_I	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271494	0.80469	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.	.	.	5.27	3.11	0.35812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	6.5522	0.22440	0.0:0.387:0.0:0.613	.	.	.	.	X	2742;2721;2387;535	.	ENSP00000348498:Y2721X	Y	+	3	2	NF1	26711696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.829000	0.39121	1.014000	0.39417	0.655000	0.94253	TAC		0.428	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267	
OR10S1	219873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123848361	123848361	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:123848361G>T	ENST00000531945.1	-	1	127	c.38C>A	c.(37-39)aCa>aAa	p.T13K		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTTCTCCGTTGTCATGGTCAT	0.478																																																	0													89.0	89.0	89.0					11																	123848361		2201	4299	6500	SO:0001583	missense	219873			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.38C>A	11.37:g.123848361G>T	ENSP00000431914:p.Thr13Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	0.492	-0.875094	0.02550	.	.	ENSG00000196248	ENST00000531945	T	0.00245	8.45	4.75	-0.793	0.10922	.	1.403140	0.05487	N	0.555868	T	0.00073	0.0002	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.02464	-1.1155	10	0.15066	T	0.55	0.0165	8.2595	0.31777	0.0:0.146:0.5028:0.3511	.	13	Q8NGN2	O10S1_HUMAN	K	13	ENSP00000431914:T13K	ENSP00000431914:T13K	T	-	2	0	OR10S1	123353571	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.147000	0.16202	-0.290000	0.09025	-0.919000	0.02742	ACA		0.478	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2		NM_001004474	
OR2L8	391190	broad.mit.edu;hgsc.bcm.edu	37	1	248112339	248112339	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:248112339C>G	ENST00000357191.3	+	1	180	c.180C>G	c.(178-180)ttC>ttG	p.F60L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATGTATTTCCTACTGAGTC	0.413																																																	0													377.0	330.0	346.0					1																	248112339		2203	4300	6503	SO:0001583	missense	391190			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.180C>G	1.37:g.248112339C>G	ENSP00000349719:p.Phe60Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800048	0.31869	.	.	ENSG00000196936	ENST00000357191	T	0.00768	5.72	1.48	-0.801	0.10893	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01353	0.0044	M	0.78344	2.41	0.09310	N	1	B	0.28667	0.219	B	0.30782	0.12	T	0.32851	-0.9891	9	0.52906	T	0.07	.	6.896	0.24257	0.0:0.5792:0.0:0.4208	.	60	Q8NGY9	OR2L8_HUMAN	L	60	ENSP00000349719:F60L	ENSP00000349719:F60L	F	+	3	2	OR2L8	246178962	0.000000	0.05858	0.145000	0.22337	0.779000	0.44077	-0.903000	0.04084	-0.037000	0.13646	0.298000	0.19748	TTC		0.413	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			
OR2T27	403239	broad.mit.edu;hgsc.bcm.edu	37	1	248813490	248813490	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:248813490C>T	ENST00000344889.3	-	1	695	c.696G>A	c.(694-696)gaG>gaA	p.E232E		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCCCTCCCCTCTGCCTCGC	0.502																																																	0													45.0	29.0	34.0					1																	248813490		2182	4248	6430	SO:0001819	synonymous_variant	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.696G>A	1.37:g.248813490C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000344889.3	37	CCDS31124.1																																																																																				0.502	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1		NM_001001824	
OTOF	9381	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	26703722	26703722	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:26703722C>G	ENST00000272371.2	-	15	1861	c.1735G>C	c.(1735-1737)Gac>Cac	p.D579H	OTOF_ENST00000403946.3_Missense_Mutation_p.D579H|OTOF_ENST00000402415.3_5'Flank|OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000339598.3_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	579					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)					TTGGAGGTGTCTACGATCTCC	0.662																																					GBM(102;732 1451 20652 24062 31372)												0													53.0	51.0	52.0					2																	26703722		2203	4300	6503	SO:0001583	missense	9381			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.1735G>C	2.37:g.26703722C>G	ENSP00000272371:p.Asp579His	Somatic		WXS	Illumina HiSeq	Phase_I	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616640	0.87359	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.81415	-1.49;-1.49	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	D	0.91558	0.5262	10	0.72032	D	0.01	-38.9833	18.3623	0.90379	0.0:1.0:0.0:0.0	.	579	Q9HC10	OTOF_HUMAN	H	579	ENSP00000272371:D579H;ENSP00000385255:D579H	ENSP00000272371:D579H	D	-	1	0	OTOF	26557226	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.651000	0.83577	2.435000	0.82474	0.462000	0.41574	GAC		0.662	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52662912	52662912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:52662912G>A	ENST00000296302.7	-	12	1442	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q449*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q481*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q481*			Q86U86	PB1_HUMAN	polybromo 1	481					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATCACACCTGCATAACTTGC	0.358			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													89.0	84.0	86.0					3																	52662912		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1441C>T	3.37:g.52662912G>A	ENSP00000296302:p.Gln481*	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	37	6.065041	0.97251	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	0.9419	18.7389	0.91767	0.0:0.0:1.0:0.0	.	.	.	.	X	449;481;481;481;481;481;481;481;481;425	.	ENSP00000296302:Q481X	Q	-	1	0	PBRM1	52637952	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	9.476000	0.97823	2.430000	0.82344	0.563000	0.77884	CAG		0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu	37	1	144857634	144857634	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:144857634C>T	ENST00000369354.3	-	39	6609	c.6420G>A	c.(6418-6420)acG>acA	p.T2140T	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.T2225T|PDE4DIP_ENST00000369356.4_Silent_p.T2140T|PDE4DIP_ENST00000313382.9_Silent_p.T2034T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Silent_p.T2276T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2140					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGATTATGGGCGTTTCTGAGC	0.483			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													256.0	282.0	273.0					1																	144857634		2203	4296	6499	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6420G>A	1.37:g.144857634C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	10.12	1.261815	0.23051	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.89	-9.79	0.00494	.	.	.	.	.	T	0.04003	0.0112	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09509	-1.0671	4	.	.	.	.	1.5879	0.02648	0.1528:0.1687:0.3577:0.3208	.	.	.	.	H	217	.	.	R	-	2	0	PDE4DIP	143568991	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.813000	0.01725	-3.163000	0.00227	-0.410000	0.06199	CGC		0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359	
PDLIM4	8572	broad.mit.edu;hgsc.bcm.edu	37	5	131598428	131598428	+	Missense_Mutation	SNP	G	G	T	rs138635559	byFrequency	TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:131598428G>T	ENST00000253754.3	+	2	284	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.D74Y	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	74	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.						zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCTGCCACGATCACCTCAC	0.597																																																	0													97.0	69.0	78.0					5																	131598428		2203	4300	6503	SO:0001583	missense	8572			AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.220G>T	5.37:g.131598428G>T	ENSP00000253754:p.Asp74Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	ENST00000253754.3	37	CCDS4152.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091780	0.55968	.	.	ENSG00000131435	ENST00000253754;ENST00000379018;ENST00000418373	T;T;T	0.39997	1.6;1.6;1.05	5.62	5.62	0.85841	PDZ/DHR/GLGF (4);	0.175857	0.49305	D	0.000154	T	0.61324	0.2338	L	0.59967	1.855	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.81914	0.986;0.995;0.955	T	0.57545	-0.7793	10	0.40728	T	0.16	-25.7237	17.141	0.86752	0.0:0.0:1.0:0.0	.	74;15;74	P50479-2;C9J542;P50479	.;.;PDLI4_HUMAN	Y	74;74;15	ENSP00000253754:D74Y;ENSP00000368303:D74Y;ENSP00000411753:D15Y	ENSP00000253754:D74Y	D	+	1	0	PDLIM4	131626327	1.000000	0.71417	0.971000	0.41717	0.945000	0.59286	6.552000	0.73914	2.642000	0.89623	0.655000	0.94253	GAT		0.597	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2		NM_003687	
PHF12	57649	broad.mit.edu;hgsc.bcm.edu	37	17	27250942	27250942	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:27250942T>C	ENST00000332830.4	-	4	1510	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.T234A|PHF12_ENST00000577226.1_Missense_Mutation_p.T234A|RP11-20B24.5_ENST00000580782.1_RNA	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGTGCAGTGGTACAAGTCAGT	0.562																																																	0													52.0	49.0	50.0					17																	27250942		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.700A>G	17.37:g.27250942T>C	ENSP00000329933:p.Thr234Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371357	0.82573	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94576	-3.44;-3.46;-3.46	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.95554	0.8555	L	0.53249	1.67	0.80722	D	1	P;P;D;D;P	0.67145	0.93;0.919;0.972;0.996;0.93	P;P;P;D;P	0.65140	0.676;0.699;0.69;0.932;0.676	D	0.93794	0.7095	10	0.17369	T	0.5	-9.5897	15.3307	0.74208	0.0:0.0:0.0:1.0	.	216;234;234;234;234	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	A	234	ENSP00000329933:T234A;ENSP00000368157:T234A;ENSP00000268756:T234A	ENSP00000268756:T234A	T	-	1	0	PHF12	24275068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.298000	0.77334	0.528000	0.53228	ACC		0.562	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1		NM_020889	
PHTF1	10745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	114252891	114252891	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:114252891C>A	ENST00000369604.1	-	11	1737	c.1254G>T	c.(1252-1254)gaG>gaT	p.E418D	PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000393357.2_Missense_Mutation_p.E418D|PHTF1_ENST00000369596.2_Missense_Mutation_p.E365D|PHTF1_ENST00000357783.2_Missense_Mutation_p.E418D|PHTF1_ENST00000369600.1_Missense_Mutation_p.E365D|PHTF1_ENST00000369598.1_Missense_Mutation_p.E373D|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	418					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAAACATCCTCTTTGGGGT	0.473																																																	0													74.0	65.0	68.0					1																	114252891		2203	4300	6503	SO:0001583	missense	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1254G>T	1.37:g.114252891C>A	ENSP00000358617:p.Glu418Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.405377|2.405377	0.42715|0.42715	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.73|5.73	1.01|1.01	0.19927|0.19927	.|.	0.122068|.	0.64402|.	D|.	0.000014|.	T|T	0.21022|0.21022	0.0506|0.0506	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	P;D;D|.	0.63880|.	0.731;0.993;0.991|.	B;P;P|.	0.56434|.	0.304;0.775;0.798|.	T|T	0.05370|0.05370	-1.0889|-1.0889	9|5	0.13853|.	T|.	0.58|.	-24.2844|-24.2844	10.1583|10.1583	0.42836|0.42836	0.0:0.5021:0.0:0.4979|0.0:0.5021:0.0:0.4979	.|.	418;173;418|.	Q9UMS5;Q5TCR1;Q9UMS5-2|.	PHTF1_HUMAN;.;.|.	D|M	373;418;365;373;365;418;418|174	.|.	ENSP00000350428:E418D|.	E|R	-|-	3|2	2|0	PHTF1|PHTF1	114054414|114054414	0.880000|0.880000	0.30214|0.30214	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	-0.200000|-0.200000	0.09478|0.09478	-0.070000|-0.070000	0.12908|0.12908	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.473	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1		NM_006608	
PLTP	5360	broad.mit.edu;hgsc.bcm.edu	37	20	44531163	44531163	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:44531163G>T	ENST00000477313.1	-	10	1617	c.1023C>A	c.(1021-1023)ggC>ggA	p.G341G	PLTP_ENST00000354050.4_Silent_p.G289G|PLTP_ENST00000372431.3_Silent_p.G341G|PLTP_ENST00000542937.1_Silent_p.G361G|PLTP_ENST00000372420.1_Silent_p.G253G|PLTP_ENST00000420868.2_Silent_p.G246G			P55058	PLTP_HUMAN	phospholipid transfer protein	341					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGATGGTGGTGCCAGAGGGCT	0.627																																																	0													60.0	54.0	56.0					20																	44531163		2203	4300	6503	SO:0001819	synonymous_variant	5360			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.1023C>A	20.37:g.44531163G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	ENST00000477313.1	37	CCDS13386.1																																																																																				0.627	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1		NM_006227	
POLK	51426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	74889874	74889874	+	Splice_Site	SNP	G	G	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:74889874G>A	ENST00000241436.4	+	12	1700	c.1528G>A	c.(1528-1530)Ggt>Agt	p.G510S	POLK_ENST00000508526.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Intron|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Splice_Site_p.G420S	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	510					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAGGCTTATGGGTATGACTTT	0.353								DNA polymerases (catalytic subunits)																																									0													111.0	109.0	110.0					5																	74889874		2202	4300	6502	SO:0001630	splice_region_variant	51426			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1528+1G>A	5.37:g.74889874G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	G	35	5.587397	0.96590	.	.	ENSG00000122008	ENST00000241436;ENST00000380481	D;D	0.82344	-1.6;-1.6	5.83	5.83	0.93111	DNA polymerase IV/DinB homologue, little finger domain (1);DNA polymerase, Y-family, little finger domain (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94982	0.8126	10	0.87932	D	0	-17.3401	20.1238	0.97972	0.0:0.0:1.0:0.0	.	510	Q9UBT6	POLK_HUMAN	S	510;420	ENSP00000241436:G510S;ENSP00000369848:G420S	ENSP00000241436:G510S	G	+	1	0	POLK	74925630	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.790000	0.99075	2.756000	0.94617	0.585000	0.79938	GGT		0.353	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3		NM_016218	Missense_Mutation
RNH1	6050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	499015	499015	+	Splice_Site	SNP	T	T	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:499015T>C	ENST00000534797.1	-	4	2021	c.614A>G	c.(613-615)aAg>aGg	p.K205R	RNH1_ENST00000533410.1_Splice_Site_p.K205R|RNH1_ENST00000356187.5_Splice_Site_p.K205R|RNH1_ENST00000397604.3_Splice_Site_p.K205R|RNH1_ENST00000533592.1_5'Flank|RNH1_ENST00000354420.2_Splice_Site_p.K205R|RNH1_ENST00000397614.1_Splice_Site_p.K205R|RNH1_ENST00000438658.2_Splice_Site_p.K205R|RNH1_ENST00000397615.2_Splice_Site_p.K205R			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGTGCCTACTTGAGCGCCTC	0.662																																																	0													33.0	29.0	31.0					11																	499015		2203	4300	6503	SO:0001630	splice_region_variant	6050				CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.614+1A>G	11.37:g.499015T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000534797.1	37	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	T	6.337	0.430260	0.12045	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187	T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	3.9	-0.0708	0.13746	.	1.178850	0.06174	N	0.678266	T	0.20941	0.0504	N	0.02539	-0.55	0.26397	N	0.97649	B	0.18863	0.031	B	0.12837	0.008	T	0.20874	-1.0262	9	.	.	.	.	7.4182	0.27057	0.0:0.317:0.0:0.683	.	205	P13489	RINI_HUMAN	R	205	ENSP00000433999:K205R;ENSP00000380738:K205R;ENSP00000380739:K205R;ENSP00000380729:K205R;ENSP00000435594:K205R;ENSP00000416589:K205R;ENSP00000346402:K205R;ENSP00000348515:K205R	.	K	-	2	0	RNH1	489015	0.007000	0.16637	0.158000	0.22627	0.332000	0.28634	-0.608000	0.05641	-0.099000	0.12263	0.448000	0.29417	AAG		0.662	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1		NM_203389	Missense_Mutation
SALL3	27164	hgsc.bcm.edu	37	18	76752151	76752151	+	Missense_Mutation	SNP	G	G	A	rs572244272	byFrequency	TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr18:76752151G>A	ENST00000537592.2	+	2	160	c.160G>A	c.(160-162)Gag>Aag	p.E54K	SALL3_ENST00000575389.2_Missense_Mutation_p.E54K|SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000572928.1_3'UTR	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	54					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAGCGTGTGCGAGAAATGCTG	0.687																																																	0													31.0	35.0	34.0					18																	76752151		2198	4299	6497	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.160G>A	18.37:g.76752151G>A	ENSP00000441823:p.Glu54Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626130	0.66901	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.44083	0.93	4.44	3.55	0.40652	Zinc finger, C2H2-like (1);	0.220948	0.29830	N	0.011089	T	0.39145	0.1067	M	0.73598	2.24	0.80722	D	1	P	0.41131	0.739	B	0.28553	0.091	T	0.48352	-0.9043	10	0.52906	T	0.07	-21.6364	14.546	0.68030	0.0:0.1476:0.8524:0.0	.	54	Q9BXA9	SALL3_HUMAN	K	54	ENSP00000441823:E54K	ENSP00000299466:E54K	E	+	1	0	SALL3	74853139	1.000000	0.71417	0.669000	0.29828	0.974000	0.67602	6.576000	0.74023	0.979000	0.38497	0.561000	0.74099	GAG		0.687	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1		NM_171999	
SCN10A	6336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38797338	38797338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:38797338C>A	ENST00000449082.2	-	10	1401	c.1402G>T	c.(1402-1404)Gag>Tag	p.E468*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	468					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTGGAGCCCTCTGACACTCTT	0.478																																																	0													319.0	267.0	285.0					3																	38797338		2203	4300	6503	SO:0001587	stop_gained	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1402G>T	3.37:g.38797338C>A	ENSP00000390600:p.Glu468*	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674110	0.67928	.	.	ENSG00000185313	ENST00000449082	.	.	.	5.77	4.89	0.63831	.	0.658638	0.15084	N	0.281499	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	10.0196	0.42035	0.1554:0.6948:0.1498:0.0	.	.	.	.	X	468	.	ENSP00000390600:E468X	E	-	1	0	SCN10A	38772342	1.000000	0.71417	0.976000	0.42696	0.005000	0.04900	3.178000	0.50879	1.558000	0.49541	-0.176000	0.13171	GAG		0.478	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3		NM_006514	
SCNN1A	6337	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6457292	6457292	+	Missense_Mutation	SNP	C	C	T	rs545954539		TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr12:6457292C>T	ENST00000228916.2	-	13	1855	c.1757G>A	c.(1756-1758)cGa>cAa	p.R586Q	SCNN1A_ENST00000540037.1_Missense_Mutation_p.R286Q|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R645Q|SCNN1A_ENST00000358945.3_Missense_Mutation_p.R608Q|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R609Q	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	586					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCGGAACCTTCGGAGCAGCAT	0.622																																																	0													53.0	53.0	53.0					12																	6457292		2203	4300	6503	SO:0001583	missense	6337			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1757G>A	12.37:g.6457292C>T	ENSP00000228916:p.Arg586Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563445	0.45694	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.72615	-0.63;-0.67;-0.42;-0.63;-0.62	4.54	3.62	0.41486	.	0.121926	0.37178	N	0.002204	T	0.60051	0.2239	L	0.58669	1.825	0.27237	N	0.959242	D;P;B	0.52996	0.957;0.858;0.414	B;B;B	0.36378	0.223;0.163;0.084	T	0.56141	-0.8028	10	0.35671	T	0.21	-15.5739	10.7741	0.46340	0.0:0.9035:0.0:0.0965	.	609;586;645	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Q	645;608;286;586;609	ENSP00000353292:R645Q;ENSP00000351825:R608Q;ENSP00000440876:R286Q;ENSP00000228916:R586Q;ENSP00000438739:R609Q	ENSP00000228916:R586Q	R	-	2	0	SCNN1A	6327553	1.000000	0.71417	0.996000	0.52242	0.632000	0.37999	1.091000	0.30915	0.879000	0.35944	0.561000	0.74099	CGA		0.622	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			
SFRP4	6424	hgsc.bcm.edu	37	7	37947147	37947148	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:37947147_37947148insG	ENST00000436072.2	-	6	1351_1352	c.974_975insC	c.(973-975)ccafs	p.P325fs	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	325					brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGGGACTGGCTGGTTTGGGAGC	0.505																																																	0																																										SO:0001589	frameshift_variant	6424			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.975dupC	7.37:g.37947149_37947149dupG	ENSP00000410715:p.Pro325fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Frame_Shift_Ins	INS	ENST00000436072.2	37	CCDS5453.1																																																																																				0.505	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2		NM_003014	
SLC26A4	5172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107329537	107329537	+	Silent	SNP	G	G	A	rs140778437		TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:107329537G>A	ENST00000265715.3	+	9	1265	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S	SLC26A4_ENST00000541474.1_5'Flank|SLC26A4_ENST00000544569.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	347					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.S347S(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTTGTTCTCGGAGATGCTGG	0.438									Pendred syndrome																																								1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	165.0	153.0	157.0		1041	-11.2	0.1	7	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC26A4	NM_000441.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		347/781	107329537	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1041G>A	7.37:g.107329537G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	CCDS5746.1																																																																																				0.438	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1		NM_000441	
SMC3	9126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	112335137	112335137	+	Silent	SNP	A	A	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr10:112335137A>G	ENST00000361804.4	+	4	300	c.174A>G	c.(172-174)ccA>ccG	p.P58P	SMC3_ENST00000462899.1_3'UTR|snoU13_ENST00000458966.1_RNA	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	58					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATCTTCGTCCAGAACAGCGGT	0.299																																																	0													138.0	133.0	135.0					10																	112335137		2203	4300	6503	SO:0001819	synonymous_variant	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.174A>G	10.37:g.112335137A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K156|O60464|Q5T482	Silent	SNP	ENST00000361804.4	37	CCDS31285.1																																																																																				0.299	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1		NM_005445	
SNED1	25992	broad.mit.edu;hgsc.bcm.edu	37	2	241974046	241974046	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:241974046A>G	ENST00000310397.8	+	4	704	c.704A>G	c.(703-705)gAc>gGc	p.D235G	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.D235G|SNED1_ENST00000401884.1_Missense_Mutation_p.D235G|SNED1_ENST00000405547.3_Missense_Mutation_p.D235G	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	235	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGCACAGCAGACATGGCCGAG	0.672																																																	0													25.0	30.0	28.0					2																	241974046		2068	4201	6269	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.704A>G	2.37:g.241974046A>G	ENSP00000308893:p.Asp235Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.443285	0.63067	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	4.43	4.43	0.53597	Nidogen, extracellular domain (3);	.	.	.	.	T	0.80633	0.4660	M	0.64170	1.965	0.46774	D	0.999197	D	0.76494	0.999	D	0.68943	0.961	T	0.82321	-0.0515	9	0.59425	D	0.04	.	13.6859	0.62515	1.0:0.0:0.0:0.0	.	235	Q8TER0	SNED1_HUMAN	G	235	ENSP00000384871:D235G;ENSP00000386007:D235G;ENSP00000308893:D235G;ENSP00000342992:D235G	ENSP00000308893:D235G	D	+	2	0	SNED1	241622719	1.000000	0.71417	0.692000	0.30179	0.206000	0.24218	6.043000	0.71004	1.610000	0.50200	0.260000	0.18958	GAC		0.672	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2		XM_059482	
C6orf48	50854	broad.mit.edu;hgsc.bcm.edu	37	6	31804867	31804867	+	5'UTR	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:31804867C>T	ENST00000395788.3	+	0	248				C6orf48_ENST00000375642.2_Intron|C6orf48_ENST00000375640.3_Intron|SNORD52_ENST00000364884.1_RNA|C6orf48_ENST00000395789.1_Intron|C6orf48_ENST00000375638.3_Intron|C6orf48_ENST00000375641.2_Intron|SNORD48_ENST00000364953.1_RNA|C6orf48_ENST00000375633.1_Intron|C6orf48_ENST00000375635.2_Intron|C6orf48_ENST00000375639.2_Intron			Q9UBA6	G8_HUMAN	chromosome 6 open reading frame 48											breast(1)|large_intestine(1)|lung(1)|skin(1)	4						ATGATGATTTCACAGACTAGA	0.443																																																	0													78.0	74.0	75.0					6																	31804867		876	1991	2867	SO:0001623	5_prime_UTR_variant	26797			AJ249732	CCDS34416.1	6p21.33	2011-12-13			ENSG00000204387	ENSG00000204387			19078	protein-coding gene	gene with protein product		605447				8096093	Standard	NM_001287483		Approved	D6S57, G8	uc003rjy.2	Q9UBA6	OTTHUMG00000031175	ENST00000395788.3:c.-239C>T	6.37:g.31804867C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BW21|Q9UBA7|Q9UBA8	RNA	SNP	ENST00000395788.3	37	CCDS34416.1																																																																																				0.443	C6orf48-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268463.1		NM_001040437	
SNRPB	6628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	2448399	2448399	+	Silent	SNP	C	C	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:2448399C>A	ENST00000438552.2	-	2	171	c.9G>T	c.(7-9)gtG>gtT	p.V3V	SNRPB_ENST00000339610.6_5'UTR|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.G104W|SNRPB_ENST00000381342.2_Silent_p.V3V	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	3					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TGCTCTTGCCCACCGTCTGCA	0.532																																																	0													114.0	99.0	104.0					20																	2448399		2203	4300	6503	SO:0001819	synonymous_variant	6628				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.9G>T	20.37:g.2448399C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q15490|Q6IB35|Q9UIS5	Silent	SNP	ENST00000438552.2	37	CCDS13026.1																																																																																				0.532	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			
SOHLH1	402381	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	138586216	138586217	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:138586216_138586217CC>AT	ENST00000298466.5	-	7	1022_1023	c.962_963GG>AT	c.(961-963)gGG>gAT	p.G321D	SOHLH1_ENST00000425225.1_Intron	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	321					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CAGCCCTGAACCCAGGGCCCCA	0.649																																																	0																																										SO:0001583	missense	402381			BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.962_963delinsAT	9.37:g.138586216_138586217delinsAT	ENSP00000298466:p.Gly321Asp	Somatic		WXS	Illumina HiSeq	Phase_I	C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent|Missense_Mutation	SNP	ENST00000298466.5	37	CCDS35174.1																																																																																				0.649	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2		NM_001012415	
SORD	6652	hgsc.bcm.edu	37	15	45361216	45361216	+	Missense_Mutation	SNP	C	C	T	rs55901542|rs397787697		TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr15:45361216C>T	ENST00000267814.9	+	7	932	c.752C>T	c.(751-753)aCg>aTg	p.T251M	SORD_ENST00000558580.1_Missense_Mutation_p.T230M	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	251					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		ATCGAGTGCACGGGGGCAGAG	0.587																																																	0													45.0	42.0	43.0					15																	45361216		2198	4298	6496	SO:0001583	missense	6652				CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.752C>T	15.37:g.45361216C>T	ENSP00000267814:p.Thr251Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Missense_Mutation	SNP	ENST00000267814.9	37	CCDS10116.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500938	0.64298	.	.	ENSG00000140263	ENST00000267814	T	0.04603	3.59	4.74	4.74	0.60224	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.103279	0.64402	D	0.000004	T	0.30262	0.0759	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.962	T	0.44667	-0.9313	10	0.72032	D	0.01	-15.406	16.7098	0.85382	0.0:1.0:0.0:0.0	.	172;251	B4DKI2;Q00796	.;DHSO_HUMAN	M	251	ENSP00000267814:T251M	ENSP00000267814:T251M	T	+	2	0	SORD	43148508	1.000000	0.71417	0.931000	0.37212	0.243000	0.25628	7.520000	0.81821	2.177000	0.69029	0.462000	0.41574	ACG		0.587	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			
SPEF2	79925	hgsc.bcm.edu;ucsc.edu	37	5	35700726	35700726	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:35700726delA	ENST00000356031.3	+	16	2424	c.2270delA	c.(2269-2271)caafs	p.Q757fs	SPEF2_ENST00000440995.2_Frame_Shift_Del_p.Q752fs|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.Q752fs|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	757					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAAAGCACAAAAATCCACA	0.388																																																	0													126.0	113.0	117.0					5																	35700726		1841	4082	5923	SO:0001589	frameshift_variant	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2270delA	5.37:g.35700726delA	ENSP00000348314:p.Gln757fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Del	DEL	ENST00000356031.3	37	CCDS43309.1																																																																																				0.388	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1		NM_144722	
STARD7	56910	broad.mit.edu;hgsc.bcm.edu	37	2	96861119	96861119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:96861119C>T	ENST00000337288.5	-	2	842	c.459G>A	c.(457-459)tgG>tgA	p.W153*	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	153	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TTGGGCGCCGCCACAGCTTAA	0.498																																																	0													112.0	87.0	95.0					2																	96861119		2203	4300	6503	SO:0001587	stop_gained	56910			AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.459G>A	2.37:g.96861119C>T	ENSP00000338030:p.Trp153*	Somatic		WXS	Illumina HiSeq	Phase_I	D3DXG9|Q53T44|Q6GU43|Q969M6	Nonsense_Mutation	SNP	ENST00000337288.5	37	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	C	39	7.870970	0.98537	.	.	ENSG00000084090	ENST00000337288;ENST00000443962	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4484	18.1532	0.89682	0.0:1.0:0.0:0.0	.	.	.	.	X	153;52	.	ENSP00000338030:W153X	W	-	3	0	STARD7	96224846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.206000	0.72154	2.885000	0.99019	0.655000	0.94253	TGG		0.498	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			
STRBP	55342	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125936121	125936121	+	Splice_Site	SNP	C	C	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr9:125936121C>A	ENST00000348403.5	-	5	654	c.225G>T	c.(223-225)aaG>aaT	p.K75N	STRBP_ENST00000447404.2_Splice_Site_p.K75N|STRBP_ENST00000360998.3_Splice_Site_p.K61N	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	75	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CACCTTGATCCCTAAAAATAA	0.388																																																	0													142.0	133.0	136.0					9																	125936121		2203	4300	6503	SO:0001630	splice_region_variant	55342			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.225-1G>T	9.37:g.125936121C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482569	0.84747	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.19938	2.38;2.38;2.11	5.16	5.16	0.70880	.	0.278803	0.39615	N	0.001305	T	0.16854	0.0405	L	0.33485	1.01	0.80722	D	1	P	0.36789	0.57	B	0.25987	0.065	T	0.03212	-1.1060	10	0.41790	T	0.15	.	19.0076	0.92857	0.0:1.0:0.0:0.0	.	75	Q96SI9	STRBP_HUMAN	N	75;75;61	ENSP00000415968:K75N;ENSP00000321347:K75N;ENSP00000354271:K61N	ENSP00000321347:K75N	K	-	3	2	STRBP	124975942	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.792000	0.47837	2.571000	0.86741	0.591000	0.81541	AAG		0.388	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			Missense_Mutation
TARS2	80222	broad.mit.edu;hgsc.bcm.edu	37	1	150476838	150476838	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:150476838G>A	ENST00000369064.3	+	14	1679	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S	TARS2_ENST00000369054.2_Missense_Mutation_p.G419S|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.G467S	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	549					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CGATGCCCTGGGCCGGCCACA	0.502																																																	0													80.0	63.0	69.0					1																	150476838		2203	4300	6503	SO:0001583	missense	80222			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1645G>A	1.37:g.150476838G>A	ENSP00000358060:p.Gly549Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205524	0.79127	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.05	4.11	0.48088	Aminoacyl-tRNA synthetase, class II (1);	0.060536	0.64402	D	0.000004	T	0.80954	0.4723	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85659	0.1287	9	0.72032	D	0.01	-6.6972	14.2191	0.65812	0.0:0.1505:0.8495:0.0	.	419;274;549	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	S	419;549;274;274	.	ENSP00000358047:G274S	G	+	1	0	TARS2	148743462	1.000000	0.71417	0.975000	0.42487	0.410000	0.31052	5.282000	0.65615	1.324000	0.45282	0.655000	0.94253	GGC		0.502	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1		NM_025150	
TCOF1	6949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149749096	149749096	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:149749096G>T	ENST00000504761.2	+	6	570	c.570G>T	c.(568-570)atG>atT	p.M190I	TCOF1_ENST00000377797.3_Missense_Mutation_p.M190I|TCOF1_ENST00000439160.2_Missense_Mutation_p.M190I|TCOF1_ENST00000513346.1_Missense_Mutation_p.M190I|TCOF1_ENST00000323668.7_Missense_Mutation_p.M190I|TCOF1_ENST00000394269.3_Missense_Mutation_p.M190I|TCOF1_ENST00000445265.2_Missense_Mutation_p.M190I|TCOF1_ENST00000451292.1_Missense_Mutation_p.M190I			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	190					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCAGGGATGGTGTCAGCGG	0.627																																																	0													87.0	77.0	80.0					5																	149749096		2203	4300	6503	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.570G>T	5.37:g.149749096G>T	ENSP00000421655:p.Met190Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937672	0.34189	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.74209	-0.8;-0.8;-0.82;-0.82;-0.8;1.6;-0.8;-0.8;-0.8	3.36	0.471	0.16752	.	1.043690	0.07588	N	0.921452	T	0.67608	0.2911	L	0.57536	1.79	0.09310	N	1	P;B;P;P;B;B	0.36733	0.494;0.002;0.494;0.567;0.002;0.005	B;B;B;B;B;B	0.39217	0.294;0.002;0.294;0.154;0.002;0.004	T	0.54417	-0.8297	10	0.33141	T	0.24	-0.0424	3.4449	0.07477	0.2504:0.217:0.5326:0.0	.	190;190;190;190;190;190	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	I	190	ENSP00000400939:M190I;ENSP00000367028:M190I;ENSP00000409944:M190I;ENSP00000325223:M190I;ENSP00000406888:M190I;ENSP00000377811:M190I;ENSP00000390717:M190I;ENSP00000421655:M190I;ENSP00000427484:M190I	ENSP00000325223:M190I	M	+	3	0	TCOF1	149729289	0.064000	0.20934	0.019000	0.16419	0.509000	0.34042	0.613000	0.24299	0.085000	0.17107	0.462000	0.41574	ATG		0.627	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1		NM_001008656	
THSD1	55901	hgsc.bcm.edu	37	13	52952072	52952073	+	Frame_Shift_Ins	INS	-	-	C	rs201708767|rs562330470		TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr13:52952072_52952073insC	ENST00000258613.4	-	5	2210_2211	c.2032_2033insG	c.(2032-2034)gccfs	p.A678fs	THSD1_ENST00000544466.1_Frame_Shift_Ins_p.A299fs|THSD1_ENST00000349258.4_Frame_Shift_Ins_p.A625fs	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	678					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A678V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GTAGGCAGGGGCCTGCCGTGGA	0.604																																																	1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2033dupG	13.37:g.52952074_52952074dupC	ENSP00000258613:p.Ala678fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Frame_Shift_Ins	INS	ENST00000258613.4	37	CCDS9432.1																																																																																				0.604	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			
TNK1	8711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7291835	7291835	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:7291835G>T	ENST00000576812.1	+	11	1972	c.1603G>T	c.(1603-1605)Ggc>Tgc	p.G535C	TNK1_ENST00000570896.1_Missense_Mutation_p.G530C|TNK1_ENST00000311668.2_Missense_Mutation_p.G530C	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				GGGACCTCCAGGCCTGCCTCC	0.612																																																	0													48.0	60.0	56.0					17																	7291835		2008	4166	6174	SO:0001583	missense	8711			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1603G>T	17.37:g.7291835G>T	ENSP00000459799:p.Gly535Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000576812.1	37	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078313	0.36662	.	.	ENSG00000174292	ENST00000311668	T	0.75938	-0.98	4.18	3.21	0.36854	.	0.777035	0.11366	N	0.571361	T	0.64394	0.2594	N	0.08118	0	0.25261	N	0.989598	P;P	0.48407	0.91;0.855	P;B	0.50617	0.646;0.443	T	0.56805	-0.7918	10	0.59425	D	0.04	.	10.4025	0.44237	0.0975:0.0:0.9025:0.0	.	530;535	Q13470-2;Q13470	.;TNK1_HUMAN	C	530	ENSP00000312309:G530C	ENSP00000312309:G530C	G	+	1	0	TNK1	7232559	1.000000	0.71417	0.476000	0.27291	0.545000	0.35147	2.393000	0.44442	1.373000	0.46208	0.655000	0.94253	GGC		0.612	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2		NM_003985	
TRPC7	57113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	135692925	135692925	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr5:135692925C>T	ENST00000513104.1	-	2	433	c.151G>A	c.(151-153)Gct>Act	p.A51T	TRPC7_ENST00000426057.2_Missense_Mutation_p.A51T|TRPC7_ENST00000355180.3_Missense_Mutation_p.A51T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	51					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATACTCAGCCGAGTCCAGG	0.607																																																	0													96.0	108.0	104.0					5																	135692925		2141	4264	6405	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.151G>A	5.37:g.135692925C>T	ENSP00000426070:p.Ala51Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.916980|4.916980	0.92249|0.92249	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.72725|.	-0.68;-0.68;-0.68|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82976|0.82976	0.5154|0.5154	M|M	0.86028|0.86028	2.79|2.79	0.46927|0.46927	D|D	0.999253|0.999253	D;D;P;P|.	0.69078|.	0.997;0.985;0.92;0.848|.	D;P;P;P|.	0.80764|.	0.994;0.882;0.764;0.742|.	D|D	0.84502|0.84502	0.0617|0.0617	10|5	0.59425|.	D|.	0.04|.	-13.5949|-13.5949	18.9316|18.9316	0.92568|0.92568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	51;51;51;51|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	T|D	51|50	ENSP00000347312:A51T;ENSP00000441628:A51T;ENSP00000426070:A51T|.	ENSP00000265193:A51T|.	A|G	-|-	1|2	0|0	TRPC7|TRPC7	135720824|135720824	1.000000|1.000000	0.71417|0.71417	0.328000|0.328000	0.25416|0.25416	0.963000|0.963000	0.63663|0.63663	7.651000|7.651000	0.83577|0.83577	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1		NM_020389	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179600277	179600277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:179600277C>T	ENST00000591111.1	-	48	14169	c.13945G>A	c.(13945-13947)Gct>Act	p.A4649T	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A4966T|TTN_ENST00000342992.6_Missense_Mutation_p.A3722T|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12399	Ig-like 26.				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)			CTGCTTCCAGCCTCATTTGAA	0.408																																																	0													42.0	41.0	41.0					2																	179600277		1862	4109	5971	SO:0001583	missense	7273			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.13945G>A	2.37:g.179600277C>T	ENSP00000465570:p.Ala4649Thr	Somatic		WXS	Illumina HiSeq	Phase_I	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	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.58	2.875736	0.51695	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80460	0.4627	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80450	-0.1377	9	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	4649	Q8WZ42	TITIN_HUMAN	T	3722	ENSP00000343764:A3722T	ENSP00000343764:A3722T	A	-	1	0	TTN	179308522	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GCT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TUBB1	81027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	57599336	57599336	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr20:57599336C>T	ENST00000217133.1	+	4	1123	c.854C>T	c.(853-855)tCc>tTc	p.S285F		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	285					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CGAGCCCTCTCCGTGGCCGAG	0.647																																																	0													51.0	46.0	48.0					20																	57599336		2203	4300	6503	SO:0001583	missense	81027			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.854C>T	20.37:g.57599336C>T	ENSP00000217133:p.Ser285Phe	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000217133.1	37	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517238	0.64634	.	.	ENSG00000101162	ENST00000217133	D	0.85629	-2.01	5.34	5.34	0.76211	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.364444	0.29861	N	0.011013	D	0.93766	0.8007	H	0.98701	4.305	0.20307	N	0.999919	P	0.47484	0.896	P	0.48524	0.58	D	0.89626	0.3852	10	0.87932	D	0	.	18.0067	0.89211	0.0:1.0:0.0:0.0	.	285	Q9H4B7	TBB1_HUMAN	F	285	ENSP00000217133:S285F	ENSP00000217133:S285F	S	+	2	0	TUBB1	57032731	0.643000	0.27269	0.023000	0.16930	0.943000	0.58893	6.037000	0.70956	2.509000	0.84616	0.561000	0.74099	TCC		0.647	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1		NM_030773	
UBA7	7318	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49847308	49847308	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:49847308G>T	ENST00000333486.3	-	15	2002	c.1844C>A	c.(1843-1845)gCc>gAc	p.A615D	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	615					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCATGCCGGGCCCACTGTGG	0.587																																																	0													89.0	95.0	93.0					3																	49847308		2203	4300	6503	SO:0001583	missense	7318			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1844C>A	3.37:g.49847308G>T	ENSP00000333266:p.Ala615Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482713	0.96307	.	.	ENSG00000182179	ENST00000333486	T	0.47177	0.85	6.07	6.07	0.98685	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.048738	0.85682	D	0.000000	T	0.79534	0.4462	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84602	0.0673	10	0.87932	D	0	-20.715	18.8245	0.92111	0.0:0.0:1.0:0.0	.	615	P41226	UBA7_HUMAN	D	615	ENSP00000333266:A615D	ENSP00000333266:A615D	A	-	2	0	UBA7	49822312	1.000000	0.71417	0.976000	0.42696	0.952000	0.60782	6.299000	0.72770	2.884000	0.98904	0.655000	0.94253	GCC		0.587	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1		NM_003335	
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	216380760	216380760	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:216380760T>G	ENST00000307340.3	-	16	3557	c.3171A>C	c.(3169-3171)caA>caC	p.Q1057H	USH2A_ENST00000366942.3_Missense_Mutation_p.Q1057H|USH2A_ENST00000366943.2_Missense_Mutation_p.Q1057H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1057					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)		TGGGCGGAGGTTGCTGGAATG	0.413										HNSCC(13;0.011)																																							0													129.0	130.0	129.0					1																	216380760		2203	4300	6503	SO:0001583	missense	7399			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.3171A>C	1.37:g.216380760T>G	ENSP00000305941:p.Gln1057His	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630674	0.67015	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;T;T	0.84730	-1.89;0.6;0.6	5.96	4.84	0.62591	Fibronectin, type III (1);	0.000000	0.42548	D	0.000696	D	0.91195	0.7226	M	0.82517	2.595	0.50467	D	0.999877	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.89161	0.3530	10	0.15066	T	0.55	.	12.0076	0.53268	0.0:0.0673:0.0:0.9327	.	1057;1057	O75445-2;O75445	.;USH2A_HUMAN	H	1057	ENSP00000305941:Q1057H;ENSP00000355910:Q1057H;ENSP00000355909:Q1057H	ENSP00000305941:Q1057H	Q	-	3	2	USH2A	214447383	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.499000	0.35671	1.080000	0.41073	-0.256000	0.11100	CAA		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123	
UTRN	7402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	144780343	144780343	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:144780343A>G	ENST00000367545.3	+	20	2560	c.2560A>G	c.(2560-2562)Aaa>Gaa	p.K854E		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	854	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCTTCACCCCAAAATTGAAAT	0.502																																																	0													71.0	66.0	68.0					6																	144780343		2203	4300	6503	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2560A>G	6.37:g.144780343A>G	ENSP00000356515:p.Lys854Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	9.109	1.006103	0.19199	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.34859	1.34	5.44	4.25	0.50352	.	0.867765	0.09920	N	0.738635	T	0.09949	0.0244	N	0.14661	0.345	0.38034	D	0.935269	B	0.21309	0.054	B	0.18263	0.021	T	0.12344	-1.0551	10	0.17832	T	0.49	.	10.7699	0.46316	0.6118:0.3882:0.0:0.0	.	854	P46939	UTRO_HUMAN	E	854	ENSP00000356515:K854E	ENSP00000356499:K854E	K	+	1	0	UTRN	144822036	0.010000	0.17322	0.069000	0.20011	0.090000	0.18270	1.390000	0.34464	2.197000	0.70478	0.528000	0.53228	AAA		0.502	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188200	10188200	+	Missense_Mutation	SNP	C	C	A	rs5030812|rs5030811		TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:10188200C>A	ENST00000256474.2	+	2	1183	c.343C>A	c.(343-345)Cac>Aac	p.H115N	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	115	Involved in binding to CCT complex.		H -> Q (in VHLD; type II). {ECO:0000269|PubMed:9829912}.|H -> R (in VHLD; type II; dbSNP:rs5030812).|H -> Y (in VHLD; type I; dbSNP:rs5030811). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.H115N(7)|p.H115Y(5)|p.?(3)|p.H115fs*15(1)|p.H115D(1)|p.H115fs*41(1)|p.H115fs*42(1)|p.H115fs*44(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGATAGGTCACCTTTGGCT	0.532		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	20	Substitution - Missense(13)|Deletion - Frameshift(4)|Unknown(3)	kidney(19)|pancreas(1)	GRCh37	CM961423|CM982005	VHL	M	rs5030811						167.0	155.0	159.0					3																	10188200		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.343C>A	3.37:g.10188200C>A	ENSP00000256474:p.His115Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226834	0.58668	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99963	-9.61	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99966	0.9987	M	0.84511	2.7	0.80722	D	1	D	0.64830	0.994	D	0.67548	0.952	D	0.94877	0.8035	10	0.72032	D	0.01	0.1733	16.3181	0.82935	0.0:1.0:0.0:0.0	.	115	P40337	VHL_HUMAN	N	115;33	ENSP00000256474:H115N	ENSP00000256474:H115N	H	+	1	0	VHL	10163200	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	5.806000	0.69150	2.530000	0.85305	0.563000	0.77884	CAC		0.532	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VPS11	55823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118948939	118948939	+	Silent	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:118948939C>T	ENST00000300793.6	+	12	1857	c.1815C>T	c.(1813-1815)gcC>gcT	p.A605A	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	606					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGCTGAAAGCCTTCCTAGAGC	0.552																																																	0													151.0	151.0	151.0					11																	118948939		1992	4167	6159	SO:0001819	synonymous_variant	55823			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1815C>T	11.37:g.118948939C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37																																																																																					0.552	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_021729	
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85731357	85731357	+	Silent	SNP	C	C	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr4:85731357C>G	ENST00000295888.4	-	14	2435	c.2028G>C	c.(2026-2028)gtG>gtC	p.V676V	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Silent_p.V676V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	676					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATTCTGGTTCACTTTCTCCC	0.438																																																	0													84.0	82.0	83.0					4																	85731357		2203	4300	6503	SO:0001819	synonymous_variant	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2028G>C	4.37:g.85731357C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	CCDS3609.1																																																																																				0.438	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991	
WDTC1	23038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27621085	27621085	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:27621085G>C	ENST00000319394.3	+	9	1373	c.838G>C	c.(838-840)Ggc>Cgc	p.G280R	WDTC1_ENST00000361771.3_Missense_Mutation_p.G280R	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	280					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAGCCCCAATGGCACAGAGCT	0.552																																																	0													97.0	82.0	87.0					1																	27621085		2203	4300	6503	SO:0001583	missense	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.838G>C	1.37:g.27621085G>C	ENSP00000317971:p.Gly280Arg	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37		.	.	.	.	.	.	.	.	.	.	G	28.8	4.948366	0.92593	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	D;D	0.85013	-1.93;-1.93	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93190	0.7831	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93290	0.6667	10	0.66056	D	0.02	.	19.1316	0.93410	0.0:0.0:1.0:0.0	.	280;280	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	R	280	ENSP00000317971:G280R;ENSP00000355317:G280R	ENSP00000317971:G280R	G	+	1	0	WDTC1	27493672	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.476000	0.97823	2.769000	0.95229	0.563000	0.77884	GGC		0.552	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015023	
WIPI2	26100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	5270558	5270558	+	Missense_Mutation	SNP	A	A	G	rs144773383		TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr7:5270558A>G	ENST00000288828.4	+	13	1577	c.1345A>G	c.(1345-1347)Atg>Gtg	p.M449V	WIPI2_ENST00000404704.3_Missense_Mutation_p.M438V|WIPI2_ENST00000382384.2_Missense_Mutation_p.M420V|WIPI2_ENST00000484262.1_Missense_Mutation_p.M379V|WIPI2_ENST00000401525.3_Missense_Mutation_p.M431V	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	449					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCACCCGCCCATGATTCTTCG	0.597																																																	0													67.0	56.0	60.0					7																	5270558		2203	4300	6503	SO:0001583	missense	26100				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.1345A>G	7.37:g.5270558A>G	ENSP00000288828:p.Met449Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	A	8.041	0.763976	0.15914	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.39229	1.39;1.4;1.39;1.41;1.09	5.95	5.95	0.96441	.	0.050364	0.85682	D	0.000000	T	0.24392	0.0591	N	0.13098	0.295	0.41443	D	0.987937	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.002;0.001	T	0.11767	-1.0574	10	0.02654	T	1	-47.6617	14.9948	0.71421	1.0:0.0:0.0:0.0	.	432;420;431;438;449	E7EVF6;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;WIPI2_HUMAN	V	449;431;438;420;379;432	ENSP00000288828:M449V;ENSP00000384945:M431V;ENSP00000385297:M438V;ENSP00000371821:M420V;ENSP00000429654:M379V	ENSP00000288828:M449V	M	+	1	0	WIPI2	5237084	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.046000	0.64226	2.279000	0.76181	0.533000	0.62120	ATG		0.597	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2		NM_015610	
ZNF292	23036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	87970890	87970890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:87970890C>T	ENST00000369577.3	+	8	7586	c.7543C>T	c.(7543-7545)Cag>Tag	p.Q2515*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.Q2510*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2515						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAATGATTTTCAGGAAGATAA	0.299																																																	0													41.0	39.0	40.0					6																	87970890		1799	4055	5854	SO:0001587	stop_gained	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7543C>T	6.37:g.87970890C>T	ENSP00000358590:p.Gln2515*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	43	9.827955	0.99273	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	.	.	.	5.76	4.88	0.63580	.	0.211843	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	16.1635	0.81734	0.1346:0.8654:0.0:0.0	.	.	.	.	X	2515;2510	.	ENSP00000342847:Q2510X	Q	+	1	0	ZNF292	88027609	1.000000	0.71417	1.000000	0.80357	0.110000	0.19582	2.208000	0.42797	1.410000	0.46936	0.591000	0.81541	CAG		0.299	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2		NM_015021	
ZNF347	84671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53644453	53644453	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr19:53644453C>A	ENST00000334197.7	-	5	1696	c.1628G>T	c.(1627-1629)tGt>tTt	p.C543F	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.C544F|ZNF347_ENST00000452676.2_Missense_Mutation_p.C544F	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCACTCATTACACATATAAGG	0.398																																					Melanoma(64;205 1597 17324 45721)												0													154.0	150.0	152.0					19																	53644453		2203	4300	6503	SO:0001583	missense	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1628G>T	19.37:g.53644453C>A	ENSP00000334146:p.Cys543Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991879	0.54041	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	D;D	0.85088	-1.94;-1.94	3.01	3.01	0.34805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94391	0.8196	H	0.97023	3.925	0.40464	D	0.98027	D;D	0.89917	0.998;1.0	P;D	0.76071	0.799;0.987	D	0.96051	0.9031	9	0.87932	D	0	.	13.2379	0.59979	0.0:1.0:0.0:0.0	.	544;543	G5E9N4;Q96SE7	.;ZN347_HUMAN	F	543;544	ENSP00000334146:C543F;ENSP00000405218:C544F	ENSP00000334146:C543F	C	-	2	0	ZNF347	58336265	0.995000	0.38212	0.006000	0.13384	0.018000	0.09664	3.807000	0.55591	1.700000	0.51204	0.655000	0.94253	TGT		0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1		NM_032584	
ZNF451	26036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	57013213	57013213	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:57013213A>C	ENST00000370706.4	+	10	2574	c.2330A>C	c.(2329-2331)aAa>aCa	p.K777T	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.K777T|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.K777T|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	777					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAAGTGCACAAAGAAAAGAGT	0.438																																																	0													99.0	89.0	92.0					6																	57013213		2202	4300	6502	SO:0001583	missense	26036			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2330A>C	6.37:g.57013213A>C	ENSP00000359740:p.Lys777Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	A	7.320	0.616782	0.14129	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.18338	3.27;2.22;3.27	4.91	-1.76	0.08006	.	1.531430	0.03335	N	0.193965	T	0.03011	0.0089	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.36696	-0.9737	10	0.21014	T	0.42	1.0669	0.2367	0.00187	0.2785:0.2679:0.1511:0.3025	.	777;777;777;777	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	T	777	ENSP00000359740:K777T;ENSP00000350083:K777T;ENSP00000421645:K777T	ENSP00000350083:K777T	K	+	2	0	ZNF451	57121172	0.000000	0.05858	0.000000	0.03702	0.857000	0.48899	-0.235000	0.09016	-0.136000	0.11475	0.528000	0.53228	AAA		0.438	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2		NM_015555	
ZUFSP	221302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	116979974	116979974	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:116979974T>C	ENST00000368576.3	-	4	1027	c.784A>G	c.(784-786)Aag>Gag	p.K262E	ZUFSP_ENST00000368573.1_Missense_Mutation_p.K262E|ZUFSP_ENST00000471919.1_5'UTR	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	262							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ACCTGCAGCTTCTGAAATTCT	0.323																																																	0													77.0	71.0	73.0					6																	116979974		2203	4299	6502	SO:0001583	missense	221302			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.784A>G	6.37:g.116979974T>C	ENSP00000357565:p.Lys262Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750814	0.69533	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T	0.47177	0.85	5.54	4.34	0.51931	.	0.190257	0.56097	D	0.000023	T	0.37073	0.0990	M	0.71581	2.175	0.46458	D	0.999057	P	0.44690	0.841	B	0.43754	0.43	T	0.40572	-0.9556	10	0.72032	D	0.01	-7.003	10.5356	0.45002	0.0:0.0:0.1625:0.8375	.	262	Q96AP4	ZUFSP_HUMAN	E	262	ENSP00000357565:K262E	ENSP00000357562:K262E	K	-	1	0	ZUFSP	117086667	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.119000	0.57891	1.015000	0.39444	0.533000	0.62120	AAG		0.323	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1		NM_145062	
ANKRD20A8P	729171	broad.mit.edu	37	2	95497757	95497757	+	RNA	SNP	C	C	G			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr2:95497757C>G	ENST00000432432.2	-	0	1086					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		CTCACCTTCTCCTTGTCCATT	0.473																																																	0																																												0					2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95497757C>G		Somatic		WXS	Illumina GAIIx	Phase_I	A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																					0.473	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			
ATP2B2	491	broad.mit.edu	37	3	10401807	10401807	+	Splice_Site	SNP	G	G	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr3:10401807G>T	ENST00000352432.4	-	12	1729	c.1660C>A	c.(1660-1662)Ccc>Acc	p.P554T	ATP2B2_ENST00000397077.1_Splice_Site_p.P509T|ATP2B2_ENST00000360273.2_Splice_Site_p.P554T|ATP2B2_ENST00000343816.4_Splice_Site_p.P540T|ATP2B2_ENST00000383800.4_Splice_Site_p.P509T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	554					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TTCTCTGGGGGCTGCAGAGAG	0.677																																					Ovarian(125;1619 1709 15675 19819 38835)												0													28.0	28.0	28.0					3																	10401807		2203	4298	6501	SO:0001630	splice_region_variant	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1660-1C>A	3.37:g.10401807G>T		Somatic		WXS	Illumina GAIIx	Phase_I	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463409	0.84425	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	4.93	4.93	0.64822	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.74397	0.3711	L	0.31120	0.905	0.80722	D	1	D;P;B	0.89917	1.0;0.857;0.413	D;P;B	0.85130	0.997;0.71;0.327	T	0.77696	-0.2491	10	0.62326	D	0.03	-28.1243	18.1486	0.89667	0.0:0.0:1.0:0.0	.	489;521;554	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	T	554;509;509;554;540;489;46;410;554	ENSP00000324172:P554T;ENSP00000373311:P509T;ENSP00000380267:P509T;ENSP00000353414:P554T;ENSP00000344677:P540T;ENSP00000414854:P410T	ENSP00000342954:P554T	P	-	1	0	ATP2B2	10376807	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.970000	0.88000	2.272000	0.75746	0.591000	0.81541	CCC		0.677	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2		NM_001683	Missense_Mutation
C1orf94	84970	broad.mit.edu	37	1	34666597	34666597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:34666597C>T	ENST00000488417.1	+	3	1354	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	C1orf94_ENST00000373374.3_Nonsense_Mutation_p.R222*	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	412								p.R222*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCCGAGACTTCGAAACAAAGT	0.577																																																	1	Substitution - Nonsense(1)	large_intestine(1)											35.0	34.0	34.0					1																	34666597		2202	4300	6502	SO:0001587	stop_gained	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1234C>T	1.37:g.34666597C>T	ENSP00000435634:p.Arg412*	Somatic		WXS	Illumina GAIIx	Phase_I	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Nonsense_Mutation	SNP	ENST00000488417.1	37	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889663	0.91889	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	.	.	.	5.52	4.61	0.57282	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.6044	10.1682	0.42893	0.0:0.9075:0.0:0.0925	.	.	.	.	X	222;412	.	ENSP00000362472:R222X	R	+	1	2	C1orf94	34439184	0.996000	0.38824	0.999000	0.59377	0.054000	0.15201	1.069000	0.30641	1.324000	0.45282	0.655000	0.94253	CGA		0.577	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2		NM_032884	
FNDC1	84624	broad.mit.edu	37	6	159653887	159653887	+	Silent	SNP	G	G	T			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr6:159653887G>T	ENST00000297267.9	+	11	2543	c.2343G>T	c.(2341-2343)gcG>gcT	p.A781A	FNDC1_ENST00000340366.6_Silent_p.A718A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	781					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTGAGGGAGCGGAGGCTTCTG	0.662																																																	0													30.0	32.0	31.0					6																	159653887		2099	4213	6312	SO:0001819	synonymous_variant	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2343G>T	6.37:g.159653887G>T		Somatic		WXS	Illumina GAIIx	Phase_I	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	4.676	0.125741	0.08931	.	.	ENSG00000164694	ENST00000329629	.	.	.	4.35	-1.03	0.10102	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8043	0.01081	0.3916:0.1615:0.2821:0.1648	.	.	.	.	X	677	.	.	G	+	1	0	FNDC1	159573877	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.237000	0.02922	-0.307000	0.08804	-1.095000	0.02154	GGA		0.662	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		NM_032532	
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																																	1	Substitution - Missense(1)	endometrium(1)											18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386			AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000391415.1	37	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1		NM_001146041	
MALAT1	378938	broad.mit.edu	37	11	65270349	65270349	+	lincRNA	SNP	T	T	C			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr11:65270349T>C	ENST00000534336.1	+	0	5117					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TCTACCATTTTAAAGTTAATT	0.308																																																	0													13.0	14.0	14.0					11																	65270349		873	1986	2859			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270349T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000534336.1	37																																																																																					0.308	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1		NR_002819	
PRAMEF10	343071	broad.mit.edu	37	1	12954436	12954436	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr1:12954436G>A	ENST00000235347.4	-	3	926	c.847C>T	c.(847-849)Cac>Tac	p.H283Y		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	283					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCCAGGTGCTCTTTGATA	0.453																																																	0													3.0	2.0	2.0					1																	12954436		812	1707	2519	SO:0001583	missense	343071			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.847C>T	1.37:g.12954436G>A	ENSP00000235347:p.His283Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	2.001	-0.429351	0.04701	.	.	ENSG00000187545	ENST00000235347	T	0.00949	5.51	1.57	1.57	0.23409	.	0.767706	0.12378	N	0.474125	T	0.01061	0.0035	L	0.42632	1.34	0.09310	N	1	B	0.16802	0.019	B	0.18871	0.023	T	0.43114	-0.9411	10	0.36615	T	0.2	.	6.6166	0.22780	0.0:0.0:1.0:0.0	.	283	O60809	PRA10_HUMAN	Y	283	ENSP00000235347:H283Y	ENSP00000235347:H283Y	H	-	1	0	PRAMEF10	12877023	0.001000	0.12720	0.002000	0.10522	0.251000	0.25915	0.005000	0.13129	1.176000	0.42840	0.194000	0.17425	CAC		0.453	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2		XM_496342	
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481																3	Substitution - Missense(3)	urinary_tract(1)|prostate(1)|kidney(1)																																										0					16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000564451.1	37																																																																																					0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1		NG_002334	
CDC27	996	broad.mit.edu	37	17	45234696	45234696	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3382-01A-01D-0966-08	TCGA-A3-3382-11A-01D-0966-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	f10e1718-6fb8-4c08-bc28-439f26355cd2	9e5e7403-d655-4c63-b938-e8140224dd7a	g.chr17:45234696C>A	ENST00000066544.3	-	6	623	c.530G>T	c.(529-531)aGc>aTc	p.S177I	CDC27_ENST00000446365.2_Missense_Mutation_p.S116I|CDC27_ENST00000527547.1_Missense_Mutation_p.S177I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.S177I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	177					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CAGACAGTTGCTAAAGTTCTG	0.398																																						.											0													75.0	76.0	75.0					17																	45234696		2203	4298	6501	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.530G>T	17.37:g.45234696C>A	ENSP00000066544:p.Ser177Ile	Somatic		WXS	Illumina GAIIx	Phase_I	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288283	0.40494	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.70631	-0.5;-0.49;-0.1;-0.5;0.7	5.39	5.39	0.77823	.	0.092420	0.64402	D	0.000001	T	0.57548	0.2061	N	0.24115	0.695	0.50632	D	0.999881	B;B;B;B	0.34290	0.144;0.27;0.447;0.177	B;B;B;B	0.28991	0.021;0.065;0.097;0.029	T	0.61347	-0.7081	10	0.51188	T	0.08	-34.0702	16.6644	0.85248	0.0:1.0:0.0:0.0	.	116;177;177;177	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	I	177;177;116;177;177	ENSP00000066544:S177I;ENSP00000434614:S177I;ENSP00000392802:S116I;ENSP00000437339:S177I;ENSP00000432105:S177I	ENSP00000066544:S177I	S	-	2	0	CDC27	42589695	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.970000	0.56824	2.538000	0.85594	0.650000	0.86243	AGC		0.398	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			
