#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_ORegAnno_bin	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
ACAD8	27034	hgsc.bcm.edu	37	11	134131683	134131683	+	Silent	SNP	C	C	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr11:134131683C>T	ENST00000281182.4	+	9	1097	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000537423.1_Silent_p.L254L|ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000374752.4_Silent_p.L204L	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	331					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	GGCCGCGCGGCTGATGGTCCG	0.562																																					GBM(65;238 1125 33403 41853 48889)												0													106.0	87.0	93.0					11																	134131683		2201	4297	6498	SO:0001819	synonymous_variant	27034			AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.991C>T	11.37:g.134131683C>T			B7Z5W4|Q6ZWP6|Q9BUS8	Silent	SNP	ENST00000281182.4	37	CCDS8498.1																																																																																				0.562	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1		NM_014384	
ANKRD24	170961	hgsc.bcm.edu	37	19	4200138	4200138	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr19:4200138G>A	ENST00000600132.1	+	5	589	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	ANKRD24_ENST00000318934.4_Missense_Mutation_p.G105S|ANKRD24_ENST00000262970.5_Missense_Mutation_p.G195S	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	105										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GATAGCTCATGGCAGCAATGT	0.662																																																	0													27.0	29.0	28.0					19																	4200138		1972	4144	6116	SO:0001583	missense	170961			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.313G>A	19.37:g.4200138G>A	ENSP00000471252:p.Gly105Ser		O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381676	0.61845	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	D;D	0.81659	-1.52;-1.52	4.17	4.17	0.49024	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.89104	0.6620	M	0.81682	2.555	0.49130	D	0.999759	D;D	0.89917	1.0;0.976	D;D	0.97110	1.0;0.942	D	0.90506	0.4477	9	0.72032	D	0.01	-18.8232	13.1832	0.59666	0.0:0.0:1.0:0.0	.	105;195	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	S	105;195	ENSP00000321731:G105S;ENSP00000262970:G195S	ENSP00000262970:G195S	G	+	1	0	ANKRD24	4151138	1.000000	0.71417	0.032000	0.17829	0.272000	0.26649	8.004000	0.88535	1.854000	0.53819	0.313000	0.20887	GGC		0.662	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1		XM_114000	
ANXA6	309	hgsc.bcm.edu	37	5	150514009	150514009	+	Silent	SNP	G	G	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr5:150514009G>A	ENST00000354546.5	-	8	752	c.525C>T	c.(523-525)gaC>gaT	p.D175D	ANXA6_ENST00000523714.1_Silent_p.D143D|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000356496.5_Silent_p.D175D	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	175					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGTACCAGGTCCTCGCTCA	0.567																																																	0													183.0	186.0	185.0					5																	150514009		2002	4183	6185	SO:0001819	synonymous_variant	309			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.525C>T	5.37:g.150514009G>A			B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Silent	SNP	ENST00000354546.5	37	CCDS47315.1																																																																																				0.567	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2		NM_001155	
ARAF	369	hgsc.bcm.edu	37	X	47428171	47428171	+	Silent	SNP	A	A	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chrX:47428171A>T	ENST00000377045.4	+	11	1325	c.1131A>T	c.(1129-1131)ggA>ggT	p.G377G	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	377	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCCGGCCGGGATTTGCCATCA	0.577											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63.0	43.0	50.0					X																	47428171		2203	4299	6502	SO:0001819	synonymous_variant	369			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1131A>T	X.37:g.47428171A>T		946	P07557|Q5H9B2|Q5H9B3	Silent	SNP	ENST00000377045.4	37	CCDS35232.1																																																																																				0.577	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			
BTRC	8945	hgsc.bcm.edu;ucsc.edu	37	10	103294568	103294568	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr10:103294568T>G	ENST00000370187.3	+	10	1366	c.1248T>G	c.(1246-1248)atT>atG	p.I416M	BTRC_ENST00000408038.2_Missense_Mutation_p.I380M|BTRC_ENST00000393441.4_Missense_Mutation_p.I375M	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	416					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I416M(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CAACTGACATTACCCTCCGGA	0.483																																																	1	Substitution - Missense(1)	large_intestine(1)											254.0	218.0	230.0					10																	103294568		2203	4300	6503	SO:0001583	missense	8945			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1248T>G	10.37:g.103294568T>G	ENSP00000359206:p.Ile416Met		B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089199	0.76756	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.61510	1.15;1.15;0.1	5.69	-7.31	0.01441	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.46678	0.1405	N	0.04880	-0.145	0.58432	D	0.999995	P;P;D	0.69078	0.577;0.699;0.997	P;P;D	0.76071	0.553;0.554;0.987	T	0.63924	-0.6527	10	0.51188	T	0.08	-12.033	11.9141	0.52755	0.0786:0.7796:0.0:0.1418	.	390;380;416	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	M	416;375;380	ENSP00000359206:I416M;ENSP00000377088:I375M;ENSP00000385339:I380M	ENSP00000359206:I416M	I	+	3	3	BTRC	103284558	0.003000	0.15002	0.758000	0.31321	0.991000	0.79684	-1.137000	0.03219	-1.481000	0.01863	-0.250000	0.11733	ATT		0.483	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1		NM_033637	
CCDC185	164127	hgsc.bcm.edu	37	1	223568115	223568115	+	Missense_Mutation	SNP	G	G	T	rs560005249		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr1:223568115G>T	ENST00000366875.3	+	1	1401	c.1298G>T	c.(1297-1299)cGg>cTg	p.R433L		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		433										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TACCAGGCCCGGAAGGTCCTC	0.602																																																	0													39.0	34.0	36.0					1																	223568115		2203	4299	6502	SO:0001583	missense	164127																														ENST00000366875.3:c.1298G>T	1.37:g.223568115G>T	ENSP00000355840:p.Arg433Leu		Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875707	0.51695	.	.	ENSG00000178395	ENST00000366875	T	0.21361	2.01	5.59	3.69	0.42338	.	.	.	.	.	T	0.30759	0.0775	L	0.54323	1.7	0.36534	D	0.87092	D	0.61697	0.99	P	0.61397	0.888	T	0.28170	-1.0052	9	0.35671	T	0.21	.	4.2902	0.10874	0.0845:0.1579:0.5942:0.1634	.	433	Q8N715	CA065_HUMAN	L	433	ENSP00000355840:R433L	ENSP00000355840:R433L	R	+	2	0	C1orf65	221634738	0.999000	0.42202	0.845000	0.33349	0.984000	0.73092	4.841000	0.62824	0.695000	0.31675	0.655000	0.94253	CGG		0.602	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			
CCDC33	80125	hgsc.bcm.edu;ucsc.edu	37	15	74625025	74625025	+	Missense_Mutation	SNP	C	C	T	rs146131430		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr15:74625025C>T	ENST00000398814.3	+	16	2208	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	CCDC33_ENST00000321288.5_Missense_Mutation_p.P796S|CCDC33_ENST00000268082.4_Missense_Mutation_p.P186S|CCDC33_ENST00000558821.1_Missense_Mutation_p.P186S	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	796								p.P593S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTAGGCTTCCCTATGCTCTC	0.562																																																	1	Substitution - Missense(1)	skin(1)											121.0	132.0	128.0					15																	74625025		2063	4208	6271	SO:0001583	missense	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1777C>T	15.37:g.74625025C>T	ENSP00000381795:p.Pro593Ser		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	5.038	0.192696	0.09599	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.34072	1.38;2.33;2.0;1.99	4.54	3.59	0.41128	.	0.899780	0.09462	N	0.798860	T	0.46386	0.1390	L	0.31294	0.92	0.09310	N	1	B;B;B;D	0.67145	0.046;0.041;0.15;0.996	B;B;B;D	0.64776	0.033;0.019;0.027;0.929	T	0.38499	-0.9658	10	0.44086	T	0.13	.	12.3487	0.55136	0.0:0.8286:0.1714:0.0	.	186;186;796;593	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	S	796;593;186;186	ENSP00000325012:P796S;ENSP00000381795:P593S;ENSP00000325661:P186S;ENSP00000268082:P186S	ENSP00000268082:P186S	P	+	1	0	CCDC33	72412078	0.429000	0.25530	0.045000	0.18777	0.006000	0.05464	1.877000	0.39598	1.180000	0.42898	0.549000	0.68633	CCT		0.562	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2		NM_182791	
CCRN4L	25819	hgsc.bcm.edu;ucsc.edu	37	4	139966481	139966481	+	Silent	SNP	A	A	G			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr4:139966481A>G	ENST00000280614.2	+	3	1342	c.1149A>G	c.(1147-1149)aaA>aaG	p.K383K	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	383					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K383K(1)		kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					GGTATTCTAAACATGCTCTAA	0.498																																					Ovarian(144;566 1842 19130 21379 22209)												1	Substitution - coding silent(1)	large_intestine(1)											114.0	109.0	110.0					4																	139966481		2203	4300	6503	SO:0001819	synonymous_variant	25819			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.1149A>G	4.37:g.139966481A>G			D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Silent	SNP	ENST00000280614.2	37	CCDS3743.1																																																																																				0.498	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3		NM_012118	
CFP	5199	hgsc.bcm.edu	37	X	47489070	47489070	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chrX:47489070G>A	ENST00000396992.3	-	2	200	c.80C>T	c.(79-81)tCa>tTa	p.S27L	CFP_ENST00000247153.3_Missense_Mutation_p.S27L|CFP_ENST00000377005.2_Missense_Mutation_p.S27L|CFP_ENST00000480317.1_5'UTR	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	27					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.S27*(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CACGGGGTCTGAGCCTGTAAC	0.652																																																	1	Substitution - Nonsense(1)	breast(1)											17.0	14.0	15.0					X																	47489070		2126	4176	6302	SO:0001583	missense	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.80C>T	X.37:g.47489070G>A	ENSP00000380189:p.Ser27Leu		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177216	0.38413	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.45668	0.89;0.89;0.89	5.51	2.3	0.28687	.	0.957816	0.08690	N	0.908126	T	0.40979	0.1139	M	0.79475	2.455	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.48127	-0.9062	10	0.72032	D	0.01	.	2.1399	0.03772	0.1071:0.1627:0.454:0.2762	.	27	P27918	PROP_HUMAN	L	27	ENSP00000380189:S27L;ENSP00000247153:S27L;ENSP00000366204:S27L	ENSP00000247153:S27L	S	-	2	0	CFP	47374014	0.018000	0.18449	0.903000	0.35520	0.523000	0.34469	1.416000	0.34759	1.079000	0.41038	0.600000	0.82982	TCA		0.652	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2		NM_002621	
CHMP1B	57132	hgsc.bcm.edu	37	18	11851896	11851896	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr18:11851896C>T	ENST00000526991.2	+	1	502	c.386C>T	c.(385-387)aCg>aTg	p.T129M	GNAL_ENST00000423027.3_Intron|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000334049.6_Intron|RP11-78A19.3_ENST00000586474.1_RNA	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	129					cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|lung(1)|urinary_tract(1)	3						GACGTCCAGACGCAGCAAATG	0.517																																																	0													76.0	83.0	81.0					18																	11851896		2105	4237	6342	SO:0001583	missense	57132			AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"""Charged multivesicular body proteins"""	24287	protein-coding gene	gene with protein product		606486	"""chromatin modifying protein 1B"""			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.386C>T	18.37:g.11851896C>T	ENSP00000432279:p.Thr129Met		Q96E89|Q9HD41	Missense_Mutation	SNP	ENST00000526991.2	37	CCDS54180.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402624	0.83230	.	.	ENSG00000255112	ENST00000526991	T	0.72282	-0.64	5.59	4.73	0.59995	.	.	.	.	.	D	0.84110	0.5400	M	0.86502	2.82	0.58432	D	0.999999	D	0.71674	0.998	D	0.65140	0.932	D	0.86921	0.2067	9	0.87932	D	0	.	12.7759	0.57448	0.0:0.92:0.0:0.08	.	129	Q7LBR1	CHM1B_HUMAN	M	129	ENSP00000432279:T129M	ENSP00000432279:T129M	T	+	2	0	CHMP1B	11841896	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.750000	0.68712	1.508000	0.48769	0.655000	0.94253	ACG		0.517	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386375.2		NM_020412	
CUL9	23113	hgsc.bcm.edu	37	6	43174214	43174214	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr6:43174214T>G	ENST00000252050.4	+	26	5262	c.5178T>G	c.(5176-5178)gaT>gaG	p.D1726E	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000372647.2_Missense_Mutation_p.D1726E|CUL9_ENST00000354495.3_Missense_Mutation_p.D1616E	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1726					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AATTCTGTGATGCCCTTGACC	0.542																																																	0													108.0	104.0	106.0					6																	43174214		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5178T>G	6.37:g.43174214T>G	ENSP00000252050:p.Asp1726Glu		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525324	0.64747	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73363	-0.74;-0.74;-0.74	5.36	1.49	0.22878	Cullin, N-terminal (1);Cullin homology (2);	0.417852	0.26753	N	0.022670	T	0.34308	0.0893	L	0.29908	0.895	0.27356	N	0.956093	P;B;B	0.34587	0.458;0.023;0.023	B;B;B	0.31869	0.137;0.012;0.012	T	0.26430	-1.0103	10	0.66056	D	0.02	-13.0105	0.9044	0.01281	0.1664:0.2359:0.3412:0.2566	.	1616;1726;1726	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	E	1726;1616;1726	ENSP00000252050:D1726E;ENSP00000346490:D1616E;ENSP00000361730:D1726E	ENSP00000252050:D1726E	D	+	3	2	CUL9	43282192	0.959000	0.32827	1.000000	0.80357	0.993000	0.82548	0.186000	0.16978	0.306000	0.22856	0.482000	0.46254	GAT		0.542	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089	
DDX27	55661	hgsc.bcm.edu;ucsc.edu	37	20	47835943	47835943	+	Silent	SNP	A	A	G	rs139847823	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr20:47835943A>G	ENST00000371764.4	+	1	60	c.51A>G	c.(49-51)ggA>ggG	p.G17G	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	17						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAAGGGCCGGACCGCAGGCTG	0.612																																																	0													77.0	65.0	69.0					20																	47835943		2203	4300	6503	SO:0001819	synonymous_variant	55661			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.51A>G	20.37:g.47835943A>G			A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	CCDS13416.1																																																																																				0.612	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			
DHX40	79665	hgsc.bcm.edu	37	17	57676168	57676168	+	Silent	SNP	T	T	C	rs139117700	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr17:57676168T>C	ENST00000251241.4	+	13	1800	c.1653T>C	c.(1651-1653)aaT>aaC	p.N551N	DHX40_ENST00000451169.2_Silent_p.N503N|DHX40_ENST00000425628.3_Silent_p.N474N	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	551							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGGATTTAATGACTTTGCAA	0.373													T|||	66	0.0131789	0.0008	0.0187	5008	,	,		19727	0.001		0.0368	False		,,,				2504	0.0143																0													4.0	6.0	5.0					17																	57676168		2031	3943	5974	SO:0001819	synonymous_variant	79665			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1653T>C	17.37:g.57676168T>C			B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Silent	SNP	ENST00000251241.4	37	CCDS11617.1																																																																																				0.373	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1		NM_024612	
DNHD1	144132	hgsc.bcm.edu	37	11	6578588	6578588	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr11:6578588A>C	ENST00000527990.2	+	23	8063	c.8063A>C	c.(8062-8064)cAc>cCc	p.H2688P	DNHD1_ENST00000254579.6_Missense_Mutation_p.H2688P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2688					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGGCCCCAGCACCTGGGCAAG	0.607																																																	0													30.0	36.0	34.0					11																	6578588		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.8063A>C	11.37:g.6578588A>C	ENSP00000436180:p.His2688Pro		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	0.970	-0.700373	0.03279	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	T;T	0.26373	1.74;1.74	5.33	-2.0	0.07433	.	.	.	.	.	T	0.09818	0.0241	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.25984	-1.0116	9	0.36615	T	0.2	.	1.9095	0.03284	0.4664:0.2338:0.0808:0.219	.	2688;435	Q96M86;E9PHZ7	DNHD1_HUMAN;.	P	2688;2688;435	ENSP00000254579:H2688P;ENSP00000436180:H2688P	ENSP00000254579:H2688P	H	+	2	0	DNHD1	6535164	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.347000	0.07750	-0.491000	0.06697	0.529000	0.55759	CAC		0.607	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2		NM_144666	
DNM1P46	196968	hgsc.bcm.edu	37	15	100340166	100340166	+	RNA	SNP	G	G	C	rs2958979	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr15:100340166G>C	ENST00000341853.1	-	0	760					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GACTCCTCCAGGAGTGTCTTC	0.607																																																	0													17.0	18.0	17.0					15																	100340166		1465	3500	4965			196968			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340166G>C			Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																					0.607	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1		NR_003260	
ELN	2006	hgsc.bcm.edu	37	7	73471995	73471995	+	Silent	SNP	T	T	C			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr7:73471995T>C	ENST00000252034.7	+	22	1782	c.1383T>C	c.(1381-1383)gcT>gcC	p.A461A	ELN_ENST00000429192.1_Intron|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Intron|ELN_ENST00000445912.1_Silent_p.A461A|ELN_ENST00000358929.4_Silent_p.A490A|ELN_ENST00000320399.6_Silent_p.A461A|ELN_ENST00000380553.4_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380562.4_Silent_p.A461A|ELN_ENST00000380576.5_Intron|ELN_ENST00000458204.1_Silent_p.A451A|ELN_ENST00000357036.5_Silent_p.A466A|ELN_ENST00000320492.7_Intron	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CAGCTGCAGCTGCTAAAGCAG	0.607			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													34.0	39.0	37.0					7																	73471995		2202	4297	6499	SO:0001819	synonymous_variant	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1383T>C	7.37:g.73471995T>C			B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	CCDS5562.2																																																																																				0.607	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1		NM_000501	
GRM8	2918	hgsc.bcm.edu	37	7	126883113	126883113	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr7:126883113C>A	ENST00000339582.2	-	2	954	c.146G>T	c.(145-147)gGg>gTg	p.G49V	GRM8_ENST00000444921.2_Missense_Mutation_p.G49V|GRM8_ENST00000358373.3_Missense_Mutation_p.G49V|GRM8_ENST00000405249.1_Missense_Mutation_p.G49V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	49					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GAAGAGACCCCCCAAAATAAT	0.527										HNSCC(24;0.065)																																							0													93.0	90.0	91.0					7																	126883113		2203	4300	6503	SO:0001583	missense	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.146G>T	7.37:g.126883113C>A	ENSP00000344173:p.Gly49Val		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380673	0.82792	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98183	1.0458	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	49;49	O00222-2;O00222	.;GRM8_HUMAN	V	49	ENSP00000344173:G49V;ENSP00000409790:G49V;ENSP00000351142:G49V;ENSP00000385731:G49V;ENSP00000415522:G49V	ENSP00000344173:G49V	G	-	2	0	GRM8	126670349	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGG		0.527	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			
GXYLT1	283464	hgsc.bcm.edu	37	12	42481609	42481609	+	Silent	SNP	G	G	A	rs112245628		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr12:42481609G>A	ENST00000398675.3	-	8	1534	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	GXYLT1_ENST00000280876.6_Silent_p.A403A	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	434					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TTGGTGATCTGGCATAACGAT	0.333																																																	0													102.0	90.0	93.0					12																	42481609		1841	4083	5924	SO:0001819	synonymous_variant	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1302C>T	12.37:g.42481609G>A			B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP	ENST00000398675.3	37	CCDS41772.1																																																																																				0.333	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1		XM_290597	
GXYLT1	283464	hgsc.bcm.edu	37	12	42491287	42491287	+	Missense_Mutation	SNP	T	T	C	rs201958690		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr12:42491287T>C	ENST00000398675.3	-	7	1350	c.1118A>G	c.(1117-1119)gAt>gGt	p.D373G	GXYLT1_ENST00000280876.6_Missense_Mutation_p.D342G	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	373					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TGGTTGCTTATCGTCATGGTA	0.343																																																	0																																										SO:0001583	missense	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1118A>G	12.37:g.42491287T>C	ENSP00000381666:p.Asp373Gly		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185609	0.57909	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.23147	1.92;1.92	5.84	5.84	0.93424	.	0.104418	0.64402	D	0.000001	T	0.35189	0.0923	M	0.78637	2.42	0.53688	D	0.999973	B;B	0.31383	0.321;0.215	B;B	0.38755	0.281;0.146	T	0.16364	-1.0405	10	0.37606	T	0.19	-34.0815	10.5348	0.44998	0.0:0.0719:0.0:0.9281	.	342;373	Q4G148-2;Q4G148	.;GXLT1_HUMAN	G	373;342	ENSP00000381666:D373G;ENSP00000280876:D342G	ENSP00000280876:D342G	D	-	2	0	GXYLT1	40777554	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	6.220000	0.72237	2.226000	0.72624	0.482000	0.46254	GAT		0.343	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1		XM_290597	
KLK10	5655	hgsc.bcm.edu	37	19	51519365	51519365	+	Missense_Mutation	SNP	C	C	A	rs577311064		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr19:51519365C>A	ENST00000309958.3	-	4	535	c.317G>T	c.(316-318)gGa>gTa	p.G106V	KLK10_ENST00000358789.3_Missense_Mutation_p.G106V|KLK10_ENST00000391805.1_Missense_Mutation_p.G106V|CTC-518B2.12_ENST00000596286.1_RNA	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G106V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GAGCTGCTCTCCCTGAAGAAG	0.602																																																	1	Substitution - Missense(1)	ovary(1)											42.0	35.0	37.0					19																	51519365		2200	4295	6495	SO:0001583	missense	5655			AF024605	CCDS12817.1	19q13	2011-03-07	2006-10-27			ENSG00000129451		"""Kallikreins"""	6358	protein-coding gene	gene with protein product		602673	"""kallikrein 10"""	PRSSL1		8764136, 9533035, 16800724, 16800723, 10675891	Standard	NM_145888		Approved	NES1	uc002pva.3	O43240		ENST00000309958.3:c.317G>T	19.37:g.51519365C>A	ENSP00000311746:p.Gly106Val		A6NC12|Q53YL3|Q99920|Q9GZW9	Missense_Mutation	SNP	ENST00000309958.3	37	CCDS12817.1	.	.	.	.	.	.	.	.	.	.	c	18.24	3.579954	0.65992	.	.	ENSG00000129451	ENST00000391805;ENST00000309958;ENST00000358789	D;D;D	0.90504	-2.68;-2.68;-2.68	4.67	3.6	0.41247	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.685753	0.11990	N	0.509955	D	0.89529	0.6741	L	0.50993	1.605	0.37346	D	0.91058	P	0.38078	0.617	B	0.44133	0.442	D	0.88603	0.3151	10	0.87932	D	0	.	9.529	0.39182	0.0:0.8977:0.0:0.1023	.	106	O43240	KLK10_HUMAN	V	106	ENSP00000375681:G106V;ENSP00000311746:G106V;ENSP00000351640:G106V	ENSP00000311746:G106V	G	-	2	0	KLK10	56211177	0.006000	0.16342	0.752000	0.31206	0.988000	0.76386	0.528000	0.23002	1.046000	0.40249	0.655000	0.94253	GGA		0.602	KLK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464337.2		NM_002776	
KRTAP5-1	387264	hgsc.bcm.edu	37	11	1606138	1606138	+	Silent	SNP	T	T	G	rs80025267	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr11:1606138T>G	ENST00000382171.2	-	1	375	c.342A>C	c.(340-342)ggA>ggC	p.G114G	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	114	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACCCTTGGATCCCCCACAAG	0.652																																																	0								C		591,3533		103,385,1574	32.0	45.0	41.0		342	-3.3	0.0	11	dbSNP_131	41	1037,7043		259,519,3262	no	coding-synonymous	KRTAP5-1	NM_001005922.1		362,904,4836	GG,GT,TT		12.8342,14.3307,13.3399		114/279	1606138	1628,10576	2062	4040	6102	SO:0001819	synonymous_variant	387264			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.342A>C	11.37:g.1606138T>G				Silent	SNP	ENST00000382171.2	37	CCDS31330.1																																																																																				0.652	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1		NM_001005922	
LAMA3	3909	hgsc.bcm.edu	37	18	21441702	21441702	+	Silent	SNP	T	T	C	rs35565501	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr18:21441702T>C	ENST00000313654.9	+	35	4756	c.4515T>C	c.(4513-4515)gaT>gaC	p.D1505D	LAMA3_ENST00000399516.3_Silent_p.D1505D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1505	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGGTGGCGGATCTCCAGGAGC	0.587													T|||	26	0.00519169	0.0	0.0216	5008	,	,		19027	0.0		0.0099	False		,,,				2504	0.001																0								T	,	15,4051		0,15,2018	41.0	45.0	43.0		4515,4515	0.6	1.0	18	dbSNP_126	43	151,8227		2,147,4040	no	coding-synonymous,coding-synonymous	LAMA3	NM_001127717.1,NM_198129.1	,	2,162,6058	CC,CT,TT		1.8023,0.3689,1.334	,	1505/3278,1505/3334	21441702	166,12278	2033	4189	6222	SO:0001819	synonymous_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4515T>C	18.37:g.21441702T>C			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.587	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129	
MOCOS	55034	hgsc.bcm.edu	37	18	33848526	33848526	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr18:33848526T>C	ENST00000261326.5	+	15	2566	c.2545T>C	c.(2545-2547)Tca>Cca	p.S849P		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATGCATGCATCATTGGATTT	0.383																																																	0													283.0	243.0	257.0					18																	33848526		2203	4300	6503	SO:0001583	missense	55034			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.2545T>C	18.37:g.33848526T>C	ENSP00000261326:p.Ser849Pro			Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	T	1.929	-0.446442	0.04604	.	.	ENSG00000075643	ENST00000261326	T	0.36157	1.27	5.74	1.99	0.26369	Molybdenum cofactor sulfurase, C-terminal (2);	0.621040	0.18182	N	0.149116	T	0.20007	0.0481	N	0.20401	0.57	0.09310	N	1	B	0.15930	0.015	B	0.18561	0.022	T	0.17440	-1.0369	10	0.26408	T	0.33	-8.2516	6.5426	0.22388	0.0:0.0818:0.3211:0.5972	.	849	Q96EN8	MOCOS_HUMAN	P	849	ENSP00000261326:S849P	ENSP00000261326:S849P	S	+	1	0	MOCOS	32102524	0.000000	0.05858	0.025000	0.17156	0.002000	0.02628	-0.138000	0.10374	0.517000	0.28361	0.529000	0.55759	TCA		0.383	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			
RNF123	63891	hgsc.bcm.edu	37	3	49725086	49725086	+	5'Flank	SNP	G	G	A	rs201833731	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr3:49725086G>A	ENST00000327697.6	+	0	0				MST1_ENST00000494828.2_5'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_Silent_p.N11N|MST1_ENST00000545762.1_Silent_p.N72N|MST1_ENST00000449682.2_Silent_p.N86N|RNF123_ENST00000432042.1_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCTGCTCACGTTGTAGTGGA	0.617																																																	0													50.0	44.0	46.0					3																	49725086		2202	4300	6502	SO:0001631	upstream_gene_variant	4485			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725086G>A	Exception_encountered		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	CCDS33758.1																																																																																				0.617	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2		NM_022064	
MUC6	4588	hgsc.bcm.edu	37	11	1018289	1018289	+	Silent	SNP	C	C	T	rs77222781		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr11:1018289C>T	ENST00000421673.2	-	31	4562	c.4512G>A	c.(4510-4512)ccG>ccA	p.P1504P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1504	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACTGGTGGTCGGCGTTATTG	0.562																																																	0													245.0	262.0	256.0					11																	1018289		2172	4275	6447	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4512G>A	11.37:g.1018289C>T			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540	
NPHS2	7827	hgsc.bcm.edu	37	1	179521759	179521759	+	Silent	SNP	C	C	A	rs371664350		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr1:179521759C>A	ENST00000367615.4	-	7	920	c.852G>T	c.(850-852)gcG>gcT	p.A284A	AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Silent_p.A216A	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	284					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTTGTCTTTGCGCTTCAGCCT	0.527																																																	0													62.0	55.0	57.0					1																	179521759		2203	4300	6503	SO:0001819	synonymous_variant	7827			AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.852G>T	1.37:g.179521759C>A			B1AM32|B1AM33|Q8N6Q5	Silent	SNP	ENST00000367615.4	37	CCDS1331.1																																																																																				0.527	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			
OR5P2	120065	hgsc.bcm.edu	37	11	7817856	7817856	+	Missense_Mutation	SNP	C	C	T	rs78460198	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr11:7817856C>T	ENST00000329434.2	-	1	664	c.634G>A	c.(634-636)Gtc>Atc	p.V212I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V212I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGTAGCAGACGGCTATGACA	0.493													C|||	1185	0.236621	0.3472	0.2911	5008	,	,		18815	0.128		0.2763	False		,,,				2504	0.1196																1	Substitution - Missense(1)	large_intestine(1)						C	ILE/VAL	1371,2839		401,569,1135	99.0	104.0	102.0		634	-11.0	0.0	11	dbSNP_131	102	2425,6159		393,1639,2260	no	missense	OR5P2	NM_153444.1	29	794,2208,3395	TT,TC,CC		28.2502,32.5653,29.6702	benign	212/323	7817856	3796,8998	2105	4292	6397	SO:0001583	missense	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.634G>A	11.37:g.7817856C>T	ENSP00000331823:p.Val212Ile		Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	CCDS7782.1	586	0.2683150183150183	180	0.36585365853658536	100	0.27624309392265195	84	0.14685314685314685	222	0.2928759894459103	C	0.005	-2.119520	0.00346	0.325653	0.282502	ENSG00000183303	ENST00000329434	T	0.37235	1.21	5.5	-11.0	0.00169	GPCR, rhodopsin-like superfamily (1);	0.814212	0.11083	N	0.601638	T	0.00012	0.0000	N	0.11000	0.08	0.80722	P	0.0	B	0.13594	0.008	B	0.18263	0.021	T	0.36578	-0.9742	9	0.02654	T	1	-5.754	20.7759	0.99721	0.0:0.328:0.0:0.672	.	212	Q8WZ92	OR5P2_HUMAN	I	212	ENSP00000331823:V212I	ENSP00000331823:V212I	V	-	1	0	OR5P2	7774432	0.000000	0.05858	0.000000	0.03702	0.379000	0.30106	-6.285000	0.00072	-3.387000	0.00174	-1.300000	0.01332	GTC		0.493	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1		NM_153444	
PABPC1	26986	hgsc.bcm.edu	37	8	101725374	101725374	+	Missense_Mutation	SNP	T	T	C	rs72681440	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr8:101725374T>C	ENST00000318607.5	-	5	1807	c.679A>G	c.(679-681)Agt>Ggt	p.S227G	PABPC1_ENST00000522387.1_Missense_Mutation_p.S195G|PABPC1_ENST00000519004.1_Missense_Mutation_p.S182G|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	227	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GATTTTCCACTTTCATCAGTC	0.343																																																	0													53.0	50.0	51.0					8																	101725374		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.679A>G	8.37:g.101725374T>C	ENSP00000313007:p.Ser227Gly		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.49|14.49	2.552401|2.552401	0.45487|0.45487	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519596;ENST00000523555|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387	.|D;D;T	.|0.88896	.|-2.44;-2.44;2.38	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.166789	.|0.41001	.|U	.|0.000964	D|D	0.84270|0.84270	0.5435|0.5435	L|L	0.33668|0.33668	1.02|1.02	0.29103|0.29103	N|N	0.881367|0.881367	.|B;B;B	.|0.16396	.|0.001;0.017;0.017	.|B;B;B	.|0.23150	.|0.008;0.044;0.04	T|T	0.78976|0.78976	-0.1991|-0.1991	5|10	.|0.51188	.|T	.|0.08	.|.	14.9391|14.9391	0.70980|0.70980	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|195;227;227	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	R|G	59;173|227;227;182;195	.|ENSP00000313007:S227G;ENSP00000429594:S182G;ENSP00000429395:S195G	.|ENSP00000313007:S227G	K|S	-|-	2|1	0|0	PABPC1|PABPC1	101794550|101794550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.709000|2.709000	0.47160|0.47160	1.992000|1.992000	0.58205|0.58205	0.383000|0.383000	0.25322|0.25322	AAG|AGT		0.343	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1		NM_002568	
PITPNM1	9600	hgsc.bcm.edu	37	11	67269466	67269466	+	Silent	SNP	T	T	C			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr11:67269466T>C	ENST00000534749.1	-	4	695	c.507A>G	c.(505-507)cgA>cgG	p.R169R	PITPNM1_ENST00000436757.2_Silent_p.R169R|PITPNM1_ENST00000356404.3_Silent_p.R169R			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	169					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)	p.R169R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACAGTGGCCCTCGGCCCGTCT	0.617																																					GBM(28;144 709 4607 5525)												1	Substitution - coding silent(1)	lung(1)											56.0	52.0	53.0					11																	67269466		2200	4294	6494	SO:0001819	synonymous_variant	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.507A>G	11.37:g.67269466T>C			A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	CCDS31620.1																																																																																				0.617	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1		NM_004910	
PLEC	5339	hgsc.bcm.edu	37	8	144996408	144996408	+	Silent	SNP	T	T	G	rs11778026	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr8:144996408T>G	ENST00000322810.4	-	32	8161	c.7992A>C	c.(7990-7992)gcA>gcC	p.A2664A	PLEC_ENST00000398774.2_Silent_p.A2495A|PLEC_ENST00000527096.1_Silent_p.A2550A|PLEC_ENST00000356346.3_Silent_p.A2513A|PLEC_ENST00000357649.2_Silent_p.A2531A|PLEC_ENST00000354958.2_Silent_p.A2505A|PLEC_ENST00000345136.3_Silent_p.A2527A|PLEC_ENST00000354589.3_Silent_p.A2527A|PLEC_ENST00000436759.2_Silent_p.A2554A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2664	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGCTGCTGTGCCTTGGCCA	0.657													T|||	1157	0.23103	0.028	0.2968	5008	,	,		16590	0.1429		0.4284	False		,,,				2504	0.3466																0								T	,,,,,,,	382,4000		24,334,1833	12.0	13.0	13.0		7662,7539,7515,7992,7485,7581,7593,7581	-5.4	0.9	8	dbSNP_120	13	3440,5132		731,1978,1577	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	755,2312,3410	GG,GT,TT		40.1307,8.7175,29.5044	,,,,,,,	2554/4575,2513/4534,2505/4526,2664/4685,2495/4516,2527/4548,2531/4552,2527/4548	144996408	3822,9132	2191	4286	6477	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7992A>C	8.37:g.144996408T>G			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1	538	0.24633699633699635	15	0.03048780487804878	108	0.2983425414364641	94	0.16433566433566432	321	0.4234828496042216	t	9.155	1.017286	0.19355	0.087175	0.401307	ENSG00000178209	ENST00000527303	.	.	.	4.38	-5.41	0.02648	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.09310	P	0.9999999999999983	.	.	.	.	.	.	T	0.47509	-0.9112	3	.	.	.	.	1.205	0.01893	0.195:0.1813:0.155:0.4687	rs11778026	.	.	.	P	97	.	.	H	-	2	0	PLEC	145068396	0.000000	0.05858	0.870000	0.34147	0.990000	0.78478	-2.721000	0.00811	-0.830000	0.04262	0.364000	0.22116	CAC		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445	
PRKCD	5580	hgsc.bcm.edu	37	3	53213676	53213676	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr3:53213676C>A	ENST00000394729.2	+	3	527	c.199C>A	c.(199-201)Cgc>Agc	p.R67S	PRKCD_ENST00000330452.3_Missense_Mutation_p.R67S	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	67	C2.	Interaction with phosphotyrosine- containing peptide.			activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R67C(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CTATGAGGGGCGCGTCATCCA	0.582																																																	1	Substitution - Missense(1)	central_nervous_system(1)											85.0	69.0	74.0					3																	53213676		2203	4300	6503	SO:0001583	missense	5580				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.199C>A	3.37:g.53213676C>A	ENSP00000378217:p.Arg67Ser		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818381	0.71028	.	.	ENSG00000163932	ENST00000478843;ENST00000394729;ENST00000330452;ENST00000487897;ENST00000464818	T;T;D	0.83506	-0.44;-0.44;-1.73	4.97	4.97	0.65823	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.91412	0.7290	M	0.85299	2.745	0.80722	D	1	D;P	0.76494	0.999;0.85	D;B	0.68483	0.958;0.394	D	0.91691	0.5366	10	0.48119	T	0.1	.	17.1648	0.86812	0.0:1.0:0.0:0.0	.	67;67	C9K0E3;Q05655	.;KPCD_HUMAN	S	67	ENSP00000378217:R67S;ENSP00000331602:R67S;ENSP00000419629:R67S	ENSP00000331602:R67S	R	+	1	0	PRKCD	53188716	1.000000	0.71417	0.996000	0.52242	0.027000	0.11550	5.810000	0.69179	2.578000	0.87016	0.655000	0.94253	CGC		0.582	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			
RHOB	388	hgsc.bcm.edu	37	2	20647607	20647607	+	Silent	SNP	C	C	A	rs199604392		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr2:20647607C>A	ENST00000272233.4	+	1	773	c.381C>A	c.(379-381)gtC>gtA	p.V127V		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	127					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	ACGAGCATGTCCGCACAGAGC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18378	0.0		0.001	False		,,,				2504	0.0																0													71.0	75.0	74.0					2																	20647607		2203	4300	6503	SO:0001819	synonymous_variant	388				CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.381C>A	2.37:g.20647607C>A			B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Silent	SNP	ENST00000272233.4	37	CCDS1699.1																																																																																				0.622	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1		NM_004040	
PRKRA	8575	hgsc.bcm.edu	37	2	179307992	179307992	+	Splice_Site	SNP	A	A	T	rs201254634		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr2:179307992A>T	ENST00000325748.4	-	5	715		c.e5+1		PRKRA_ENST00000432031.2_Splice_Site|PRKRA_ENST00000438687.3_Splice_Site|PRKRA_ENST00000487082.1_Splice_Site|PRKRA_ENST00000470200.1_5'Flank	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator						cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			AGAAATAAGTACCAGTTTCCA	0.348																																					Melanoma(200;68 3001 23825 48764)												0													62.0	63.0	63.0					2																	179307992		2203	4300	6503	SO:0001630	splice_region_variant	8575			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.514+1T>A	2.37:g.179307992A>T			A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Splice_Site	SNP	ENST00000325748.4	37	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006024	0.74932	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6848	0.62508	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKRA	179016238	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.549000	0.82163	2.051000	0.60960	0.528000	0.53228	.		0.348	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2		NM_003690	Intron
RSPH10B	222967	hgsc.bcm.edu	37	7	5983063	5983063	+	Missense_Mutation	SNP	C	C	T	rs148485394	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr7:5983063C>T	ENST00000405415.1	-	14	2036	c.1650G>A	c.(1648-1650)atG>atA	p.M550I	RSPH10B_ENST00000441023.2_Missense_Mutation_p.M550I|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000404406.1_Missense_Mutation_p.M550I|RSPH10B_ENST00000337579.3_Missense_Mutation_p.M550I			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	550										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TCATGTAACTCATAGAGTAGA	0.428																																																	0													30.0	29.0	29.0					7																	5983063		2164	4268	6432	SO:0001583	missense	222967				CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.1650G>A	7.37:g.5983063C>T	ENSP00000385443:p.Met550Ile		A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000405415.1	37	CCDS34598.1	420	0.19230769230769232	86	0.17479674796747968	87	0.24033149171270718	42	0.07342657342657342	205	0.2704485488126649	C	2.557	-0.302794	0.05495	.	.	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000354951;ENST00000441023	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	3.38	2.48	0.30137	.	0.193985	0.44285	D	0.000471	T	0.00012	0.0000	L	0.60455	1.87	0.09310	P	0.99999528627	B;B;B	0.33288	0.406;0.068;0.112	B;B;B	0.28232	0.087;0.013;0.04	T	0.15378	-1.0439	9	0.40728	T	0.16	.	5.6003	0.17349	0.1944:0.6963:0.0:0.1094	.	251;550;409	B7Z298;P0C881;F5GXE3	.;R10B1_HUMAN;.	I	550;550;550;409;550	ENSP00000385443:M550I;ENSP00000384097:M550I;ENSP00000338556:M550I;ENSP00000400988:M550I	ENSP00000338556:M550I	M	-	3	0	RSPH10B	5949589	0.985000	0.35326	0.060000	0.19600	0.014000	0.08584	0.436000	0.21526	0.734000	0.32515	0.551000	0.68910	ATG		0.428	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2		NM_173565	
SH2D4A	63898	hgsc.bcm.edu	37	8	19252099	19252099	+	Silent	SNP	C	C	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr8:19252099C>T	ENST00000265807.3	+	10	1722	c.1311C>T	c.(1309-1311)ctC>ctT	p.L437L	SH2D4A_ENST00000518040.1_Silent_p.L392L|SH2D4A_ENST00000519207.1_Silent_p.L437L	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	437	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AGCTCCTTCTCTATCCCTGTG	0.557																																																	0													123.0	118.0	120.0					8																	19252099		2203	4300	6503	SO:0001819	synonymous_variant	63898			AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.1311C>T	8.37:g.19252099C>T			B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Silent	SNP	ENST00000265807.3	37	CCDS6009.1																																																																																				0.557	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1		NM_022071	
SH3TC1	54436	hgsc.bcm.edu	37	4	8229881	8229881	+	Silent	SNP	A	A	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr4:8229881A>T	ENST00000245105.3	+	12	2527	c.2460A>T	c.(2458-2460)ggA>ggT	p.G820G	SH3TC1_ENST00000539824.1_Silent_p.G744G	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	820										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTATTGCCGGAGTCCGTGCCA	0.657																																					NSCLC(145;2298 2623 35616 37297)												0													48.0	43.0	44.0					4																	8229881		2203	4297	6500	SO:0001819	synonymous_variant	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2460A>T	4.37:g.8229881A>T			Q4W5G5	Silent	SNP	ENST00000245105.3	37	CCDS3399.1																																																																																				0.657	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2		NM_018986	
SIAH1	6477	hgsc.bcm.edu	37	16	48396058	48396058	+	Silent	SNP	T	T	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr16:48396058T>A	ENST00000380006.2	-	1	1735	c.282A>T	c.(280-282)gtA>gtT	p.V94V	SIAH1_ENST00000356721.3_Silent_p.V125V|SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000394725.2_Silent_p.V94V			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	94	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				AGGGGAAAAGTACTGAATTAG	0.463																																																	0													78.0	70.0	72.0					16																	48396058		2200	4300	6500	SO:0001819	synonymous_variant	6477			U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.282A>T	16.37:g.48396058T>A			A0FKF3|O43269|Q49A58|Q92880	Silent	SNP	ENST00000380006.2	37	CCDS10735.1																																																																																				0.463	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			
SLC15A2	6565	hgsc.bcm.edu	37	3	121613338	121613338	+	Silent	SNP	G	G	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr3:121613338G>A	ENST00000489711.1	+	1	403	c.15G>A	c.(13-15)caG>caA	p.Q5Q	SLC15A2_ENST00000295605.2_Silent_p.Q5Q	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	5					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATCCTTTCCAGAAAAATGAGT	0.488																																																	0													140.0	153.0	148.0					3																	121613338		2203	4300	6503	SO:0001819	synonymous_variant	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.15G>A	3.37:g.121613338G>A			A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	CCDS3007.1																																																																																				0.488	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1		NM_021082	
SPTBN1	6711	hgsc.bcm.edu	37	2	54753688	54753688	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr2:54753688A>T	ENST00000356805.4	+	2	414	c.133A>T	c.(133-135)Atc>Ttc	p.I45F	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	45	Actin-binding.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCGGTCCCGCATCAAGGCTCT	0.547																																																	0													93.0	85.0	87.0					2																	54753688		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.133A>T	2.37:g.54753688A>T	ENSP00000349259:p.Ile45Phe		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028248	0.75390	.	.	ENSG00000115306	ENST00000356805;ENST00000389980	T;T	0.59638	0.25;0.25	5.77	5.77	0.91146	Calponin homology domain (1);	0.117788	0.56097	N	0.000026	T	0.66376	0.2783	M	0.80616	2.505	0.80722	D	1	B	0.28082	0.2	B	0.36030	0.216	T	0.67585	-0.5633	10	0.56958	D	0.05	.	16.1043	0.81209	1.0:0.0:0.0:0.0	.	45	Q01082	SPTB2_HUMAN	F	45	ENSP00000349259:I45F;ENSP00000374630:I45F	ENSP00000349259:I45F	I	+	1	0	SPTBN1	54607192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.310000	0.96267	2.201000	0.70794	0.528000	0.53228	ATC		0.547	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			
STK11	6794	hgsc.bcm.edu	37	19	1220429	1220429	+	Silent	SNP	C	C	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr19:1220429C>T	ENST00000326873.7	+	4	1695	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		H -> R (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.H174H(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATTGTGCACAAGGACATCA	0.652		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	29	Whole gene deletion(20)|Unknown(4)|Deletion - Frameshift(4)|Substitution - coding silent(1)	cervix(15)|lung(9)|kidney(2)|oesophagus(1)|ovary(1)|pancreas(1)											44.0	52.0	49.0					19																	1220429		2102	4244	6346	SO:0001819	synonymous_variant	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.522C>T	19.37:g.1220429C>T			B2RBX7|E7EW76	Silent	SNP	ENST00000326873.7	37	CCDS45896.1																																																																																				0.652	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3		NM_000455	
SULT1C2	6819	hgsc.bcm.edu	37	2	108910186	108910186	+	Silent	SNP	G	G	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr2:108910186G>T	ENST00000437390.2	+	2	240	c.63G>T	c.(61-63)ctG>ctT	p.L21L	SULT1C2_ENST00000492554.1_3'UTR|SULT1C2_ENST00000326853.5_Silent_p.L21L|SULT1C2_ENST00000409880.1_Silent_p.L21L|SULT1C2_ENST00000251481.6_Silent_p.L21L			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	27					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGACCCTCCTGCAGCCTGCAA	0.542																																																	0													85.0	77.0	79.0					2																	108910186		2203	4300	6503	SO:0001819	synonymous_variant	6819			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.63G>T	2.37:g.108910186G>T			Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000437390.2	37		.	.	.	.	.	.	.	.	.	.	G	4.647	0.120256	0.08881	.	.	ENSG00000198203	ENST00000409067	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.71367	0.3331	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70710	-0.4797	4	.	.	.	.	15.7356	0.77839	0.0:0.0:1.0:0.0	.	.	.	.	S	18	.	.	A	+	1	0	SULT1C2	108276618	0.000000	0.05858	0.736000	0.30914	0.395000	0.30598	0.245000	0.18142	2.300000	0.77407	0.561000	0.74099	GCA		0.542	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2		NM_176825	
TAB1	10454	hgsc.bcm.edu	37	22	39826038	39826038	+	Silent	SNP	C	C	A	rs568782512		TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr22:39826038C>A	ENST00000216160.6	+	11	1388	c.1326C>A	c.(1324-1326)acC>acA	p.T442T	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	442					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CGACCTTAACCCTGCAGTCCA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		17620	0.0		0.0	False		,,,				2504	0.001																0													70.0	69.0	69.0					22																	39826038		2203	4300	6503	SO:0001819	synonymous_variant	10454			U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1326C>A	22.37:g.39826038C>A			Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	37	CCDS13993.1																																																																																				0.672	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1		NM_153497	
TFF2	7032	hgsc.bcm.edu	37	21	43771056	43771056	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr21:43771056C>A	ENST00000291526.4	-	1	181	c.11G>T	c.(10-12)cGa>cTa	p.R4L	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	4				MGRRDAQLLAALLVLGLCA -> RHGTARRPAPGSAPRPGA MC (in Ref. 1). {ECO:0000305}.	calcium-mediated signaling (GO:0019722)|chemokine-mediated signaling pathway (GO:0070098)|digestion (GO:0007586)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of inflammatory response (GO:0050728)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						CTGGGCGTCTCGCCGTCCCAT	0.572																																																	0													47.0	47.0	47.0					21																	43771056		2203	4300	6503	SO:0001583	missense	7032				CCDS13684.1	21q22.3	2008-07-28	2008-07-28		ENSG00000160181	ENSG00000160181			11756	protein-coding gene	gene with protein product		182590	"""spasmolytic protein 1"""	SML1		1505966, 9043862	Standard	NM_005423		Approved		uc002zaw.3	Q03403	OTTHUMG00000086797	ENST00000291526.4:c.11G>T	21.37:g.43771056C>A	ENSP00000291526:p.Arg4Leu		Q15854	Missense_Mutation	SNP	ENST00000291526.4	37	CCDS13684.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720249	0.30503	.	.	ENSG00000160181	ENST00000291526	T	0.32753	1.44	4.02	-1.5	0.08691	.	0.696409	0.12487	N	0.464562	T	0.29126	0.0724	M	0.80746	2.51	0.09310	N	1	P	0.38827	0.649	B	0.37144	0.242	T	0.19321	-1.0309	9	.	.	.	-64.045	3.9917	0.09539	0.0:0.3261:0.348:0.3258	.	4	Q03403	TFF2_HUMAN	L	4	ENSP00000291526:R4L	.	R	-	2	0	TFF2	42644125	0.000000	0.05858	0.001000	0.08648	0.102000	0.19082	-0.443000	0.06862	0.034000	0.15491	0.462000	0.41574	CGA		0.572	TFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195355.1		NM_005423	
TOM1L2	146691	hgsc.bcm.edu	37	17	17772713	17772713	+	Silent	SNP	G	G	A			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr17:17772713G>A	ENST00000379504.3	-	8	935	c.852C>T	c.(850-852)gtC>gtT	p.V284V	TOM1L2_ENST00000535933.1_Silent_p.V231V|TOM1L2_ENST00000318094.10_Silent_p.V239V|TOM1L2_ENST00000540946.1_Silent_p.V186V|TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000581396.1_Silent_p.V234V|TOM1L2_ENST00000542206.1_Silent_p.V136V|TOM1L2_ENST00000395739.4_Silent_p.V239V|TOM1L2_ENST00000478943.1_Silent_p.V17V	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	284	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GCTCCTCGGTGACCTCCTCAT	0.527																																					Melanoma(192;2505 2909 14455 25269)												0													80.0	74.0	76.0					17																	17772713		2203	4300	6503	SO:0001819	synonymous_variant	146691			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.852C>T	17.37:g.17772713G>A			B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	ENST00000379504.3	37	CCDS42270.1																																																																																				0.527	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			
TSPAN17	26262	hgsc.bcm.edu	37	5	176084585	176084585	+	Silent	SNP	G	G	A	rs150851795	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr5:176084585G>A	ENST00000503045.1	+	9	871	c.816G>A	c.(814-816)acG>acA	p.T272T	TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000310032.8_Silent_p.T295T|TSPAN17_ENST00000508164.1_Silent_p.T292T			Q96FV3	TSN17_HUMAN	tetraspanin 17	0					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTGTCCACGGCGGGGCCTC	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		16338	0.0		0.002	False		,,,				2504	0.0																0								G	,,	5,4401	9.9+/-24.2	0,5,2198	26.0	29.0	28.0		,885,876	-7.1	0.0	5	dbSNP_134	28	5,8583	3.7+/-12.6	0,5,4289	no	utr-3,coding-synonymous,coding-synonymous	TSPAN17	NM_001006616.2,NM_012171.2,NM_130465.4	,,	0,10,6487	AA,AG,GG		0.0582,0.1135,0.077	,,	,295/333,292/330	176084585	10,12984	2203	4294	6497	SO:0001819	synonymous_variant	26262			AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"""Tetraspanins"""	13594	protein-coding gene	gene with protein product			"""F-box only protein 23, transmembrane 4 superfamily member 17"""	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.816G>A	5.37:g.176084585G>A			Q6NXF7|Q96S98|Q9UKB9	Silent	SNP	ENST00000503045.1	37																																																																																					0.557	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1			
TTC38	55020	hgsc.bcm.edu	37	22	46682976	46682976	+	Missense_Mutation	SNP	C	C	T	rs55653327	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr22:46682976C>T	ENST00000381031.3	+	10	917	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S	TTC38_ENST00000445282.2_Missense_Mutation_p.P223S	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	281						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CCAGATCCTTCCCAGCCTGCA	0.662													C|||	190	0.0379393	0.003	0.0562	5008	,	,		21954	0.001		0.1133	False		,,,				2504	0.0327																0								C	SER/PRO	70,4150		1,68,2041	32.0	36.0	35.0		841	4.7	1.0	22	dbSNP_129	35	854,7630		46,762,3434	yes	missense	TTC38	NM_017931.2	74	47,830,5475	TT,TC,CC		10.066,1.6588,7.2733	benign	281/470	46682976	924,11780	2110	4242	6352	SO:0001583	missense	55020				CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.841C>T	22.37:g.46682976C>T	ENSP00000370419:p.Pro281Ser		Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	CCDS43030.1	114	0.0521978021978022	0	0.0	26	0.0718232044198895	0	0.0	88	0.11609498680738786	C	17.03	3.284063	0.59867	0.016588	0.10066	ENSG00000075234	ENST00000381031;ENST00000445282	T;T	0.75154	0.88;-0.91	4.7	4.7	0.59300	.	0.245457	0.39985	N	0.001218	T	0.02380	0.0073	L	0.55743	1.74	0.22066	P	0.999385888	B;B	0.32350	0.335;0.366	B;B	0.35688	0.208;0.112	T	0.47509	-0.9112	9	0.09338	T	0.73	0.3381	16.2259	0.82288	0.0:1.0:0.0:0.0	rs55653327	223;281	E7ES35;Q5R3I4	.;TTC38_HUMAN	S	281;223	ENSP00000370419:P281S;ENSP00000393960:P223S	ENSP00000370419:P281S	P	+	1	0	TTC38	45061640	1.000000	0.71417	0.992000	0.48379	0.883000	0.51084	4.894000	0.63206	2.153000	0.67306	0.563000	0.77884	CCC		0.662	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1		NM_017931	
USP15	9958	hgsc.bcm.edu	37	12	62777762	62777762	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr12:62777762G>T	ENST00000280377.5	+	10	1289	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y	USP15_ENST00000353364.3_Missense_Mutation_p.D382Y|USP15_ENST00000393654.3_Missense_Mutation_p.D386Y	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	411	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AAAAGATGCAGATGGAAGGCC	0.333																																					Melanoma(181;615 2041 39364 49691 50001)												0													80.0	82.0	81.0					12																	62777762		2203	4299	6502	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1231G>T	12.37:g.62777762G>T	ENSP00000280377:p.Asp411Tyr		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371868	0.42003	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.30182	4.13;4.13;1.54	5.4	5.4	0.78164	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.053826	0.64402	D	0.000001	T	0.37517	0.1006	M	0.69523	2.12	0.80722	D	1	B;B	0.19583	0.037;0.037	B;B	0.21360	0.034;0.022	T	0.13737	-1.0498	9	.	.	.	-21.1592	19.3716	0.94490	0.0:0.0:1.0:0.0	.	411;382	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	Y	382;411;386	ENSP00000258123:D382Y;ENSP00000280377:D411Y;ENSP00000377264:D386Y	.	D	+	1	0	USP15	61064029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.583000	0.82559	2.805000	0.96524	0.655000	0.94253	GAT		0.333	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2		NM_006313	
VCPIP1	80124	hgsc.bcm.edu	37	8	67576661	67576661	+	Silent	SNP	T	T	G			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr8:67576661T>G	ENST00000310421.4	-	1	2791	c.2533A>C	c.(2533-2535)Aga>Cga	p.R845R		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	845					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATTGTAATTCTGTCGCCATGC	0.428																																					NSCLC(179;265 2915 6144 43644)												0													103.0	105.0	105.0					8																	67576661		2203	4300	6503	SO:0001819	synonymous_variant	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2533A>C	8.37:g.67576661T>G			Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	CCDS6192.1																																																																																				0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			
ZFYVE26	23503	hgsc.bcm.edu	37	14	68251809	68251809	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr14:68251809C>G	ENST00000347230.4	-	19	3628	c.3490G>C	c.(3490-3492)Gca>Cca	p.A1164P	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1164P	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1164			A -> E (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGAGAACTGCAGCAAGGGTG	0.517																																																	0													159.0	167.0	164.0					14																	68251809		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3490G>C	14.37:g.68251809C>G	ENSP00000251119:p.Ala1164Pro		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687410	0.68157	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.29397	1.71;1.57	5.54	1.21	0.21127	.	0.563103	0.19635	N	0.109597	T	0.32102	0.0818	L	0.54323	1.7	0.21290	N	0.999735	D;P	0.57571	0.98;0.877	P;B	0.50754	0.649;0.368	T	0.10405	-1.0631	10	0.44086	T	0.13	-0.4997	5.6463	0.17592	0.1643:0.5817:0.0:0.2539	.	1164;1164	G3V2D8;Q68DK2	.;ZFY26_HUMAN	P	1164;1143;1164	ENSP00000251119:A1164P;ENSP00000450603:A1164P	ENSP00000251119:A1164P	A	-	1	0	ZFYVE26	67321562	0.024000	0.19004	0.246000	0.24233	0.992000	0.81027	0.194000	0.17135	0.287000	0.22375	0.655000	0.94253	GCA		0.517	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346	
ZNF385D	79750	hgsc.bcm.edu	37	3	21706406	21706406	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr3:21706406G>T	ENST00000281523.2	-	2	655	c.137C>A	c.(136-138)gCa>gAa	p.A46E	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	46						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GAGGTTGACTGCAGCTGCAGT	0.498																																																	0													108.0	101.0	103.0					3																	21706406		2203	4300	6503	SO:0001583	missense	79750			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.137C>A	3.37:g.21706406G>T	ENSP00000281523:p.Ala46Glu			Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387874	0.61956	.	.	ENSG00000151789	ENST00000281523	T	0.43294	0.95	5.43	5.43	0.79202	.	0.061321	0.64402	D	0.000006	T	0.39911	0.1096	L	0.40543	1.245	0.36626	D	0.876032	B	0.21688	0.059	B	0.27608	0.081	T	0.36237	-0.9756	10	0.35671	T	0.21	0.0056	18.1988	0.89831	0.0:0.0:1.0:0.0	.	46	Q9H6B1	Z385D_HUMAN	E	46	ENSP00000281523:A46E	ENSP00000281523:A46E	A	-	2	0	ZNF385D	21681410	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	6.787000	0.75099	2.547000	0.85894	0.591000	0.81541	GCA		0.498	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1		NM_024697	
ZNF578	147660	hgsc.bcm.edu	37	19	53014787	53014787	+	Missense_Mutation	SNP	A	A	G	rs35356792	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr19:53014787A>G	ENST00000421239.2	+	6	1397	c.1153A>G	c.(1153-1155)Acc>Gcc	p.T385A	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCAAAATTCAACCCTTGTAAT	0.378													a|||	301	0.0601038	0.1362	0.0591	5008	,	,		25349	0.001		0.0636	False		,,,				2504	0.0153																0								A	ALA/THR	508,3898		38,432,1733	96.0	101.0	99.0		1153	-3.0	0.0	19	dbSNP_126	99	570,8028		14,542,3743	no	missense	ZNF578	NM_001099694.1	58	52,974,5476	GG,GA,AA		6.6294,11.5297,8.2898	possibly-damaging	385/591	53014787	1078,11926	2203	4299	6502	SO:0001583	missense	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1153A>G	19.37:g.53014787A>G	ENSP00000459216:p.Thr385Ala		B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	CCDS54310.1	130	0.05952380952380952	67	0.13617886178861788	18	0.049723756906077346	1	0.0017482517482517483	44	0.05804749340369393	-	0.314	-0.965816	0.02249	0.115297	0.066294	ENSG00000258405	ENST00000553364	.	.	.	1.48	-2.97	0.05530	.	.	.	.	.	T	0.00073	0.0002	N	0.02685	-0.53	0.80722	P	0.0	B	0.06786	0.001	B	0.09377	0.004	T	0.23013	-1.0200	6	.	.	.	.	0.5818	0.00713	0.4441:0.1578:0.131:0.2671	rs35356792;rs61746281	385	G3V4F6	.	A	385	.	.	T	+	1	0	ZNF578	57706599	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-13.157000	0.00001	-1.870000	0.01139	0.246000	0.17985	ACC		0.378	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3		NM_152472	
ZSCAN29	146050	hgsc.bcm.edu	37	15	43653322	43653322	+	Silent	SNP	G	G	A	rs35278805	byFrequency	TCGA-B0-4697-01A-01D-1361-10	TCGA-B0-4697-11A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	9ea00776-e949-4f43-a9d7-5c722cc5afaf	c6fb9835-49b2-4762-b302-f8f7e050f43c	g.chr15:43653322G>A	ENST00000396976.2	-	5	2642	c.2508C>T	c.(2506-2508)caC>caT	p.H836H	ZSCAN29_ENST00000396972.1_Silent_p.H447H|ZSCAN29_ENST00000568898.1_Silent_p.H446H|ZSCAN29_ENST00000562072.1_3'UTR	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	836					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GGATTTCTCCGTGCTTATTAA	0.453													G|||	685	0.136781	0.1891	0.1037	5008	,	,		21579	0.001		0.1958	False		,,,				2504	0.1687																0								G		845,3557	332.5+/-302.5	81,683,1437	89.0	90.0	90.0		2508	5.1	1.0	15	dbSNP_126	90	1622,6976	301.3+/-305.4	144,1334,2821	no	coding-synonymous	ZSCAN29	NM_152455.3		225,2017,4258	AA,AG,GG		18.8649,19.1958,18.9769		836/853	43653322	2467,10533	2201	4299	6500	SO:0001819	synonymous_variant	146050			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.2508C>T	15.37:g.43653322G>A			B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	ENST00000396976.2	37	CCDS10095.2																																																																																				0.453	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1		NM_152455	
