#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADAMTS20	80070	hgsc.bcm.edu;ucsc.edu	37	12	43896209	43896209	+	Splice_Site	SNP	C	C	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr12:43896209C>T	ENST00000389420.3	-	4	613		c.e4-1		ADAMTS20_ENST00000553158.1_Splice_Site	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20						extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATTTGACTTTCTAGGGAGAAA	0.303																																																	0													116.0	133.0	127.0					12																	43896209		2203	4297	6500	SO:0001630	splice_region_variant	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.614-1G>A	12.37:g.43896209C>T		Somatic		WXS	SOLID	Phase_I	A6NNC9|J3QT00	Splice_Site	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320828	0.41096	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9385	0.52886	0.0:0.9187:0.0:0.0813	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS20	42182476	1.000000	0.71417	0.859000	0.33776	0.513000	0.34164	2.363000	0.44178	2.525000	0.85131	0.655000	0.94253	.		0.303	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003	Intron
AHNAK2	113146	hgsc.bcm.edu	37	14	105405419	105405419	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr14:105405419C>A	ENST00000333244.5	-	7	16488	c.16369G>T	c.(16369-16371)Gct>Tct	p.A5457S	AHNAK2_ENST00000557457.1_Missense_Mutation_p.A455S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5457						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATTGGGGGAGCTTCCAAAGGC	0.532																																																	0													22.0	21.0	22.0					14																	105405419		1873	4112	5985	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16369G>T	14.37:g.105405419C>A	ENSP00000353114:p.Ala5457Ser	Somatic		WXS	SOLID	Phase_I	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910893	0.52439	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.01084	5.36;5.37	5.23	2.21	0.28008	.	0.601605	0.13042	U	0.418477	T	0.03011	0.0089	L	0.58101	1.795	0.09310	N	1	D	0.60575	0.988	P	0.56216	0.794	T	0.19321	-1.0309	10	0.05721	T	0.95	.	14.9368	0.70964	0.0:0.5525:0.4475:0.0	.	5457	Q8IVF2	AHNK2_HUMAN	S	455;5457	ENSP00000450998:A455S;ENSP00000353114:A5457S	ENSP00000353114:A5457S	A	-	1	0	AHNAK2	104476464	0.001000	0.12720	0.000000	0.03702	0.048000	0.14542	0.795000	0.26972	0.237000	0.21200	-0.479000	0.04858	GCT		0.532	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420	
BRD7	29117	hgsc.bcm.edu;ucsc.edu	37	16	50354652	50354652	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr16:50354652A>G	ENST00000394688.3	-	14	1693	c.1534T>C	c.(1534-1536)Tcc>Ccc	p.S512P	BRD7_ENST00000394689.2_Missense_Mutation_p.S513P			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	512					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TGAGTACTGGAGTCCAAACGC	0.448																																																	0													170.0	172.0	171.0					16																	50354652		2198	4300	6498	SO:0001583	missense	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1534T>C	16.37:g.50354652A>G	ENSP00000378180:p.Ser512Pro	Somatic		WXS	SOLID	Phase_I	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770380	0.31320	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.47869	0.83;0.83	5.68	3.4	0.38934	.	0.780588	0.12583	N	0.456300	T	0.38983	0.1061	L	0.49350	1.555	0.31711	N	0.639514	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38585	-0.9654	10	0.32370	T	0.25	-13.2715	6.4084	0.21678	0.7502:0.0:0.1325:0.1173	.	512;513	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	P	512;513	ENSP00000378180:S512P;ENSP00000378181:S513P	ENSP00000378180:S512P	S	-	1	0	BRD7	48912153	0.987000	0.35691	0.505000	0.27651	0.890000	0.51754	0.311000	0.19380	0.403000	0.25479	0.533000	0.62120	TCC		0.448	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3		NM_013263	
AP1G1	164	hgsc.bcm.edu;ucsc.edu	37	16	71798592	71798592	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr16:71798592T>C	ENST00000299980.4	-	8	1217	c.776A>G	c.(775-777)aAt>aGt	p.N259S	AP1G1_ENST00000423132.2_Missense_Mutation_p.N262S|AP1G1_ENST00000433195.2_Missense_Mutation_p.N282S|AP1G1_ENST00000569748.1_Missense_Mutation_p.N259S|AP1G1_ENST00000393512.3_Missense_Mutation_p.N262S	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	259					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ATCATCATCATTTCGTCCTAA	0.328																																																	0													87.0	87.0	87.0					16																	71798592		2198	4299	6497	SO:0001583	missense	164			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.776A>G	16.37:g.71798592T>C	ENSP00000299980:p.Asn259Ser	Somatic		WXS	SOLID	Phase_I	O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963408	0.53507	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.67	5.67	0.87782	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.131840	0.64402	D	0.000001	T	0.29817	0.0745	M	0.71296	2.17	0.50313	D	0.999864	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.10989	-1.0606	10	0.16420	T	0.52	-15.1131	15.9141	0.79496	0.0:0.0:0.0:1.0	.	259;282;262	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	S	259;262;262;282;130;344	ENSP00000299980:N259S;ENSP00000377148:N262S;ENSP00000409153:N262S;ENSP00000403259:N282S	ENSP00000299980:N259S	N	-	2	0	AP1G1	70356093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.587000	0.60991	2.154000	0.67381	0.533000	0.62120	AAT		0.328	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			
FAM217A	222826	hgsc.bcm.edu;ucsc.edu	37	6	4069285	4069285	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr6:4069285G>A	ENST00000274673.3	-	7	1575	c.1172C>T	c.(1171-1173)aCc>aTc	p.T391I	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	391																	TTGTTTTGGGGTGGAAGAACT	0.353																																																	0													111.0	119.0	116.0					6																	4069285		2203	4300	6503	SO:0001583	missense	0			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.1172C>T	6.37:g.4069285G>A	ENSP00000274673:p.Thr391Ile	Somatic		WXS	SOLID	Phase_I	Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	G	7.985	0.752004	0.15778	.	.	ENSG00000145975	ENST00000274673;ENST00000538080;ENST00000470599	T	0.24350	1.86	5.16	2.3	0.28687	.	0.740854	0.12230	N	0.487511	T	0.23886	0.0578	M	0.62723	1.935	0.09310	N	1	P	0.52061	0.95	P	0.53006	0.715	T	0.07177	-1.0786	10	0.72032	D	0.01	-9.1989	12.9771	0.58544	0.0:0.4802:0.5198:0.0	.	391	Q8IXS0	CF146_HUMAN	I	391;238;519	ENSP00000274673:T391I	ENSP00000274673:T391I	T	-	2	0	C6orf146	4014284	0.293000	0.24371	0.001000	0.08648	0.007000	0.05969	3.581000	0.53914	0.289000	0.22422	-0.312000	0.09012	ACC		0.353	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2		NM_173563	
CAMTA1	23261	hgsc.bcm.edu;ucsc.edu	37	1	7737703	7737703	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr1:7737703C>A	ENST00000303635.7	+	11	3031	c.2824C>A	c.(2824-2826)Cag>Aag	p.Q942K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Q942K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	942	IPT/TIG.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTTCAACAACCAGATCATCTC	0.552			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													191.0	169.0	176.0					1																	7737703		2203	4300	6503	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2824C>A	1.37:g.7737703C>A	ENSP00000306522:p.Gln942Lys	Somatic		WXS	SOLID	Phase_I	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	c	18.50	3.638143	0.67130	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738	T;T	0.78364	-1.17;-1.17	5.19	5.19	0.71726	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	N	0.10809	0.05	0.80722	D	1	P;D	0.58620	0.845;0.983	P;P	0.60415	0.545;0.874	T	0.73004	-0.4119	10	0.18710	T	0.47	-16.9929	18.7694	0.91885	0.0:1.0:0.0:0.0	.	942;942	Q9Y6Y1-2;Q9Y6Y1	.;CMTA1_HUMAN	K	942;942;29	ENSP00000306522:Q942K;ENSP00000402561:Q942K	ENSP00000306522:Q942K	Q	+	1	0	CAMTA1	7660290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.441000	0.82636	0.555000	0.69702	CAG		0.552	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3		NM_015215	
CHD9	80205	hgsc.bcm.edu	37	16	53358033	53358033	+	Silent	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr16:53358033G>A	ENST00000398510.3	+	38	8007	c.7920G>A	c.(7918-7920)aaG>aaA	p.K2640K	CHD9_ENST00000566029.1_Silent_p.K2624K|CHD9_ENST00000447540.1_Silent_p.K2625K|CHD9_ENST00000564845.1_Silent_p.K2624K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2640	Poly-Ala.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAATTGCAAAGGCCACAGCAG	0.507																																																	0													100.0	101.0	101.0					16																	53358033		1927	4139	6066	SO:0001819	synonymous_variant	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7920G>A	16.37:g.53358033G>A		Somatic		WXS	SOLID	Phase_I	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37																																																																																					0.507	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134	
CDH8	1006	hgsc.bcm.edu;ucsc.edu	37	16	61761058	61761058	+	Silent	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr16:61761058G>A	ENST00000577390.1	-	9	2430	c.1476C>T	c.(1474-1476)aaC>aaT	p.N492N	CDH8_ENST00000584337.1_Silent_p.N492N|CDH8_ENST00000299345.6_Silent_p.N492N|CDH8_ENST00000577730.1_Silent_p.N492N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	492	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.N492K(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTCAGGGGCGTTGTCATTGA	0.393																																																	1	Substitution - Missense(1)	lung(1)											180.0	166.0	171.0					16																	61761058		2203	4299	6502	SO:0001819	synonymous_variant	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1476C>T	16.37:g.61761058G>A		Somatic		WXS	SOLID	Phase_I	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.393	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3		NM_001796	
DCLK2	166614	hgsc.bcm.edu	37	4	151000431	151000431	+	Silent	SNP	C	C	T	rs56388384	byFrequency	TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr4:151000431C>T	ENST00000296550.7	+	1	1006	c.252C>T	c.(250-252)ttC>ttT	p.F84F	DCLK2_ENST00000506325.1_Silent_p.F84F|DCLK2_ENST00000302176.8_Silent_p.F84F	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	84	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACCGCTACTTCAAGGGCCTGG	0.642													C|||	251	0.0501198	0.1785	0.0202	5008	,	,		14718	0.0		0.001	False		,,,				2504	0.0				GBM(195;186 2215 13375 16801 37459)												0								C	,	650,3754		47,556,1599	30.0	34.0	33.0		252,252	3.4	1.0	4	dbSNP_129	33	28,8572		0,28,4272	no	coding-synonymous,coding-synonymous	DCLK2	NM_001040260.3,NM_001040261.4	,	47,584,5871	TT,TC,CC		0.3256,14.7593,5.2138	,	84/767,84/784	151000431	678,12326	2202	4300	6502	SO:0001819	synonymous_variant	166614			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.252C>T	4.37:g.151000431C>T		Somatic		WXS	SOLID	Phase_I	C9J5Q9|Q59GC8|Q8N399	Silent	SNP	ENST00000296550.7	37	CCDS34076.1																																																																																				0.642	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1		NM_001040260	
DOCK3	1795	hgsc.bcm.edu;ucsc.edu	37	3	51284171	51284171	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr3:51284171G>C	ENST00000266037.9	+	22	2140	c.2117G>C	c.(2116-2118)tGt>tCt	p.C706S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	706					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTCATCCGCTGTTTGAAGTGG	0.438																																																	0													111.0	99.0	103.0					3																	51284171		1867	4117	5984	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2117G>C	3.37:g.51284171G>C	ENSP00000266037:p.Cys706Ser	Somatic		WXS	SOLID	Phase_I	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869738	0.51588	.	.	ENSG00000088538	ENST00000266037	T	0.16897	2.31	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	L	0.28504	0.86	0.80722	D	1	B	0.33212	0.402	B	0.26864	0.074	T	0.09640	-1.0665	10	0.18276	T	0.48	.	20.2476	0.98400	0.0:0.0:1.0:0.0	.	706	Q8IZD9	DOCK3_HUMAN	S	706	ENSP00000266037:C706S	ENSP00000266037:C706S	C	+	2	0	DOCK3	51259211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.428000	0.97476	2.890000	0.99128	0.586000	0.80456	TGT		0.438	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5		NM_004947	
DONSON	29980	hgsc.bcm.edu	37	21	34955918	34955918	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr21:34955918A>C	ENST00000303071.5	-	5	906	c.840T>G	c.(838-840)taT>taG	p.Y280*	DONSON_ENST00000432378.1_Nonsense_Mutation_p.Y280*|DONSON_ENST00000303113.6_Nonsense_Mutation_p.Y266*|DONSON_ENST00000453626.1_Nonsense_Mutation_p.Y280*	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	280					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AAACGTAGAAATAGGGGCAAA	0.358																																																	0													74.0	73.0	74.0					21																	34955918		2203	4300	6503	SO:0001587	stop_gained	29980			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.840T>G	21.37:g.34955918A>C	ENSP00000307143:p.Tyr280*	Somatic		WXS	SOLID	Phase_I	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Nonsense_Mutation	SNP	ENST00000303071.5	37	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	34|34	5.342619|5.342619	0.95783|0.95783	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000437395|ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378	.|.	.|.	.|.	6.17|6.17	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.25382|.	0.0617|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30650|.	-0.9971|.	3|.	.|0.02654	.|T	.|1	-18.411|-18.411	10.0607|10.0607	0.42273|0.42273	0.8627:0.0:0.1373:0.0|0.8627:0.0:0.1373:0.0	.|.	.|.	.|.	.|.	S|X	251|266;280;280;280	.|.	.|ENSP00000307143:Y280X	I|Y	-|-	2|3	0|2	DONSON|DONSON	33877788|33877788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.634000|3.634000	0.54302|0.54302	1.160000|1.160000	0.42584|0.42584	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.358	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1		NM_017613	
DONSON	29980	hgsc.bcm.edu	37	21	34955920	34955920	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr21:34955920A>G	ENST00000303071.5	-	5	904	c.838T>C	c.(838-840)Tat>Cat	p.Y280H	DONSON_ENST00000432378.1_Missense_Mutation_p.Y280H|DONSON_ENST00000303113.6_Missense_Mutation_p.Y266H|DONSON_ENST00000453626.1_Missense_Mutation_p.Y280H	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	280					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						ACGTAGAAATAGGGGCAAAGT	0.363																																																	0													73.0	73.0	73.0					21																	34955920		2203	4300	6503	SO:0001583	missense	29980			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.838T>C	21.37:g.34955920A>G	ENSP00000307143:p.Tyr280His	Somatic		WXS	SOLID	Phase_I	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	CCDS13632.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.939343	0.92526	.	.	ENSG00000159147	ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84032	0.5383	M	0.87900	2.915	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.85333	0.1091	9	0.48119	T	0.1	-18.411	16.4837	0.84171	1.0:0.0:0.0:0.0	.	266;280	F8W8A5;Q9NYP3	.;DONS_HUMAN	H	266;280;280;280	.	ENSP00000307143:Y280H	Y	-	1	0	DONSON	33877790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.420000	0.90256	2.371000	0.80710	0.533000	0.62120	TAT		0.363	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1		NM_017613	
DTNB	1838	hgsc.bcm.edu;ucsc.edu	37	2	25754365	25754365	+	Silent	SNP	T	T	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr2:25754365T>C	ENST00000406818.3	-	9	1227	c.978A>G	c.(976-978)aaA>aaG	p.K326K	DTNB_ENST00000288642.8_Silent_p.K326K|DTNB_ENST00000404103.3_Silent_p.K326K|DTNB_ENST00000496972.2_Silent_p.K269K|DTNB_ENST00000405222.1_Silent_p.K326K|DTNB_ENST00000545439.1_Silent_p.K122K|DTNB_ENST00000407186.1_Silent_p.K326K|DTNB_ENST00000407038.3_Silent_p.K326K|DTNB_ENST00000407661.3_Silent_p.K326K	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	326						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCAAGTGGTTTCTCTGGTT	0.473																																																	0													158.0	155.0	156.0					2																	25754365		1880	4100	5980	SO:0001819	synonymous_variant	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.978A>G	2.37:g.25754365T>C		Somatic		WXS	SOLID	Phase_I	B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	ENST00000406818.3	37	CCDS46237.1																																																																																				0.473	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1		NM_033147	
EGFR	1956	hgsc.bcm.edu	37	7	55259437	55259437	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr7:55259437G>A	ENST00000275493.2	+	21	2672	c.2495G>A	c.(2494-2496)cGc>cAc	p.R832H	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.R779H|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.R787H	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	832	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R832L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAGGACCGTCGCTTGGTGCAC	0.547		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	1	Substitution - Missense(1)	lung(1)											111.0	95.0	101.0					7																	55259437		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2495G>A	7.37:g.55259437G>A	ENSP00000275493:p.Arg832His	Somatic		WXS	SOLID	Phase_I	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153972	0.57259	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.62639	0.01;0.01;0.01	5.82	4.94	0.65067	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.046788	0.85682	D	0.000000	T	0.65595	0.2706	L	0.35487	1.065	0.45733	D	0.998636	B;D	0.71674	0.079;0.998	B;P	0.59056	0.006;0.851	T	0.66396	-0.5934	10	0.45353	T	0.12	.	13.7102	0.62663	0.0744:0.0:0.9256:0.0	.	787;832	Q504U8;P00533	.;EGFR_HUMAN	H	787;702;832;779	ENSP00000415559:R787H;ENSP00000275493:R832H;ENSP00000395243:R779H	ENSP00000275493:R832H	R	+	2	0	EGFR	55226931	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	5.932000	0.70121	1.473000	0.48159	0.650000	0.86243	CGC		0.547	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2		NM_005228	
EPS15L1	58513	hgsc.bcm.edu	37	19	16547765	16547765	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr19:16547765C>A	ENST00000248070.6	-	6	494	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S	EPS15L1_ENST00000597937.1_Missense_Mutation_p.A119S|EPS15L1_ENST00000455140.2_Missense_Mutation_p.A119S|EPS15L1_ENST00000602009.1_5'Flank|EPS15L1_ENST00000535753.2_Missense_Mutation_p.A119S|EPS15L1_ENST00000594975.1_Missense_Mutation_p.A119S	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	119	Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GCCCAGTGGGCCTCTGCAGAG	0.502																																																	0													109.0	103.0	105.0					19																	16547765		2203	4300	6503	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.355G>T	19.37:g.16547765C>A	ENSP00000248070:p.Ala119Ser	Somatic		WXS	SOLID	Phase_I	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	3.981	-0.006471	0.07773	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.29397	1.57;1.57;1.57	5.02	2.59	0.31030	EF-hand-like domain (1);	0.692728	0.13829	N	0.359890	T	0.10337	0.0253	N	0.02721	-0.515	0.23773	N	0.996886	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.33266	-0.9875	10	0.06494	T	0.89	.	7.2037	0.25895	0.151:0.6689:0.0:0.1801	.	119;119;119;119;119	A8K5P4;A5PL29;A2RRF3;Q9UBC2;G3V0H2	.;.;.;EP15R_HUMAN;.	S	119	ENSP00000393313:A119S;ENSP00000248070:A119S;ENSP00000440103:A119S	ENSP00000248070:A119S	A	-	1	0	EPS15L1	16408765	0.754000	0.28360	1.000000	0.80357	0.921000	0.55340	0.126000	0.15769	1.086000	0.41228	0.561000	0.74099	GCC		0.502	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1		NM_021235	
FADS3	3995	hgsc.bcm.edu;ucsc.edu	37	11	61643923	61643923	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr11:61643923G>T	ENST00000278829.2	-	9	1140	c.988C>A	c.(988-990)Ctg>Atg	p.L330M	FADS3_ENST00000527697.1_Missense_Mutation_p.L206M|FADS3_ENST00000525588.1_Missense_Mutation_p.L302M|FADS3_ENST00000540820.1_3'UTR	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	330					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGCTTTCCAGGACCCTGTGG	0.617																																																	0													73.0	67.0	69.0					11																	61643923		2202	4299	6501	SO:0001583	missense	3995				CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.988C>A	11.37:g.61643923G>T	ENSP00000278829:p.Leu330Met	Somatic		WXS	SOLID	Phase_I	O60426	Missense_Mutation	SNP	ENST00000278829.2	37	CCDS8013.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.29|14.29	2.490069|2.490069	0.44249|0.44249	.|.	.|.	ENSG00000221968|ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000525588|ENST00000525094	T;T;T|.	0.76578|.	-1.03;-1.03;-1.03|.	4.82|4.82	4.82|4.82	0.62117|0.62117	Fatty acid desaturase, type 1 (1);|.	.|.	.|.	.|.	.|.	T|T	0.79034|0.79034	0.4378|0.4378	M|M	0.89840|0.89840	3.065|3.065	0.80722|0.80722	D|D	1|1	D;D|.	0.58620|.	0.983;0.983|.	D;D|.	0.66351|.	0.938;0.943|.	T|T	0.82400|0.82400	-0.0476|-0.0476	9|5	0.48119|.	T|.	0.1|.	0.0772|0.0772	11.008|11.008	0.47646|0.47646	0.0:0.0:0.7083:0.2917|0.0:0.0:0.7083:0.2917	.|.	206;330|.	E9PKP8;Q9Y5Q0|.	.;FADS3_HUMAN|.	M|H	206;330;302|4	ENSP00000431533:L206M;ENSP00000278829:L330M;ENSP00000432206:L302M|.	ENSP00000278829:L330M|.	L|P	-|-	1|2	2|0	FADS3|FADS3	61400499|61400499	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.427000|0.427000	0.31564|0.31564	1.114000|1.114000	0.31196|0.31196	2.409000|2.409000	0.81822|0.81822	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.617	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			
NUTM2F	54754	hgsc.bcm.edu	37	9	97081994	97081994	+	Silent	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr9:97081994G>A	ENST00000253262.4	-	6	1406	c.1386C>T	c.(1384-1386)caC>caT	p.H462H	NUTM2F_ENST00000335456.7_Silent_p.H447H|NUTM2F_ENST00000341207.4_Silent_p.H447H	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	462																	GGAATCGGGGGTGAATGACGG	0.567																																																	0													60.0	60.0	60.0					9																	97081994		1808	4038	5846	SO:0001819	synonymous_variant	54754				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1386C>T	9.37:g.97081994G>A		Somatic		WXS	SOLID	Phase_I	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	ENST00000253262.4	37	CCDS47994.1																																																																																				0.567	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2		NM_017561	
FBN3	84467	hgsc.bcm.edu	37	19	8193952	8193952	+	Silent	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr19:8193952G>A	ENST00000600128.1	-	18	2670	c.2256C>T	c.(2254-2256)ccC>ccT	p.P752P	FBN3_ENST00000601739.1_Silent_p.P752P|FBN3_ENST00000270509.2_Silent_p.P752P			Q75N90	FBN3_HUMAN	fibrillin 3	752	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGAAGCCGGGGGGGCAGGAGC	0.602																																																	0													43.0	48.0	46.0					19																	8193952		2203	4300	6503	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2256C>T	19.37:g.8193952G>A		Somatic		WXS	SOLID	Phase_I	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.602	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447	
FGD6	55785	hgsc.bcm.edu;ucsc.edu	37	12	95602827	95602827	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr12:95602827C>A	ENST00000343958.4	-	2	2456	c.2233G>T	c.(2233-2235)Gca>Tca	p.A745S	FGD6_ENST00000549499.1_Missense_Mutation_p.A745S|FGD6_ENST00000546711.1_Missense_Mutation_p.A745S|FGD6_ENST00000550368.1_5'Flank	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	745					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TACTCCGGTGCACAGAGGCTT	0.453																																																	0													106.0	100.0	102.0					12																	95602827		2203	4300	6503	SO:0001583	missense	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2233G>T	12.37:g.95602827C>A	ENSP00000344446:p.Ala745Ser	Somatic		WXS	SOLID	Phase_I	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167050	0.38217	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.68331	-0.22;-0.32;-0.25	5.77	5.77	0.91146	.	0.284335	0.25296	N	0.031683	T	0.54224	0.1845	L	0.46157	1.445	0.24350	N	0.994927	B	0.22909	0.077	B	0.21360	0.034	T	0.41179	-0.9523	10	0.09084	T	0.74	-1.6594	9.8206	0.40880	0.0:0.7867:0.1408:0.0725	.	745	Q6ZV73	FGD6_HUMAN	S	745	ENSP00000344446:A745S;ENSP00000450342:A745S;ENSP00000449005:A745S	ENSP00000344446:A745S	A	-	1	0	FGD6	94126958	0.018000	0.18449	0.261000	0.24466	0.982000	0.71751	1.857000	0.39399	2.724000	0.93272	0.561000	0.74099	GCA		0.453	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1		NM_018351	
FMN1	342184	hgsc.bcm.edu;ucsc.edu	37	15	33358817	33358817	+	Intron	SNP	C	C	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr15:33358817C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000334528.9_Silent_p.E423E|FMN1_ENST00000558197.1_Silent_p.E423E|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAGCTTCCAGCTCAGAGGTGT	0.552																																																	0													52.0	52.0	52.0					15																	33358817		1958	4153	6111	SO:0001627	intron_variant	342184			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1542G>A	15.37:g.33358817C>T		Somatic		WXS	SOLID	Phase_I	Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37																																																																																					0.552	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1		NM_001103184	
FOXP2	93986	hgsc.bcm.edu	37	7	114268729	114268729	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr7:114268729G>T	ENST00000393494.2	+	4	672	c.393G>T	c.(391-393)caG>caT	p.Q131H	FOXP2_ENST00000378237.3_Missense_Mutation_p.Q131H|FOXP2_ENST00000408937.3_Missense_Mutation_p.Q156H|FOXP2_ENST00000360232.4_Missense_Mutation_p.Q131H|FOXP2_ENST00000403559.4_Missense_Mutation_p.Q131H|FOXP2_ENST00000390668.3_Missense_Mutation_p.Q155H|FOXP2_ENST00000393491.3_Missense_Mutation_p.Q39H|FOXP2_ENST00000393500.3_Missense_Mutation_p.Q39H|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Missense_Mutation_p.Q131H|FOXP2_ENST00000393489.3_Missense_Mutation_p.Q39H|FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000393498.2_Missense_Mutation_p.Q131H			O15409	FOXP2_HUMAN	forkhead box P2	131	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TCATGCTGCAGCAGGTAATGT	0.478																																																	0													185.0	146.0	160.0					7																	114268729		2203	4300	6503	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.393G>T	7.37:g.114268729G>T	ENSP00000377132:p.Gln131His	Somatic		WXS	SOLID	Phase_I	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604233	0.66445	.	.	ENSG00000128573	ENST00000393500;ENST00000324462;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000452963;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.39229	1.53;1.27;1.93;1.53;1.27;1.27;1.09;1.27;1.53;1.09	5.75	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.59459	0.2195	L	0.55213	1.73	0.80722	D	1	D;D;D;D;D;D;D;D	0.60575	0.98;0.98;0.98;0.988;0.988;0.98;0.988;0.988	D;D;D;D;D;D;D;D	0.74674	0.948;0.948;0.948;0.977;0.984;0.948;0.984;0.977	T	0.63102	-0.6712	10	0.87932	D	0	.	14.5807	0.68288	0.0696:0.0:0.9304:0.0	.	131;131;39;131;155;131;156;156	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4;O15409-5	.;.;.;.;.;FOXP2_HUMAN;.;.	H	39;131;131;156;131;131;131;131;39;131;131;155;39	ENSP00000377137:Q39H;ENSP00000377132:Q131H;ENSP00000386200:Q156H;ENSP00000385069:Q131H;ENSP00000265436:Q131H;ENSP00000367482:Q131H;ENSP00000377129:Q39H;ENSP00000353367:Q131H;ENSP00000375084:Q155H;ENSP00000377130:Q39H	ENSP00000319424:Q131H	Q	+	3	2	FOXP2	114055965	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.806000	0.75195	1.431000	0.47355	0.650000	0.86243	CAG		0.478	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1		NM_014491	
GON4L	54856	hgsc.bcm.edu;ucsc.edu	37	1	155774833	155774833	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr1:155774833T>A	ENST00000368331.1	-	11	1600	c.1552A>T	c.(1552-1554)Atc>Ttc	p.I518F	GON4L_ENST00000437809.1_Missense_Mutation_p.I518F|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.I518F|GON4L_ENST00000361040.5_Missense_Mutation_p.I518F	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	518	Asp-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTGGAGTGATGTCTGGAGCT	0.498																																																	0													158.0	146.0	150.0					1																	155774833		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1552A>T	1.37:g.155774833T>A	ENSP00000357315:p.Ile518Phe	Somatic		WXS	SOLID	Phase_I	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	T	27.1	4.797656	0.90538	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.17370	2.44;2.44;2.44;2.28	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	L	0.54323	1.7	0.51233	D	0.999913	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.943;0.996;0.972;0.999;0.941;0.973	T	0.01715	-1.1289	10	0.54805	T	0.06	.	14.4027	0.67060	0.0:0.0:0.0:1.0	.	298;212;518;518;518;518	Q6PHZ4;Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;.;GON4L_HUMAN;.	F	518	ENSP00000396117:I518F;ENSP00000357315:I518F;ENSP00000271883:I518F;ENSP00000354322:I518F	ENSP00000271883:I518F	I	-	1	0	GON4L	154041457	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.585000	0.82584	2.075000	0.62263	0.383000	0.25322	ATC		0.498	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292	
GRIK2	2898	hgsc.bcm.edu;ucsc.edu	37	6	102483373	102483373	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr6:102483373G>A	ENST00000421544.1	+	14	2733	c.2243G>A	c.(2242-2244)cGg>cAg	p.R748Q	GRIK2_ENST00000369134.4_Missense_Mutation_p.R699Q|GRIK2_ENST00000369137.3_Missense_Mutation_p.R672Q|GRIK2_ENST00000318991.6_Missense_Mutation_p.R748Q|GRIK2_ENST00000413795.1_Missense_Mutation_p.R748Q|GRIK2_ENST00000369138.1_Missense_Mutation_p.R748Q	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	748					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTTACCCAGCGGAACTGTAAC	0.453																																																	0													175.0	177.0	176.0					6																	102483373		2203	4300	6503	SO:0001583	missense	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2243G>A	6.37:g.102483373G>A	ENSP00000397026:p.Arg748Gln	Somatic		WXS	SOLID	Phase_I	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	36	5.666182	0.96745	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85;2.85	5.46	5.46	0.80206	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.07188	0.0182	N	0.21545	0.675	0.49130	D	0.999756	D;D;D	0.58970	0.98;0.984;0.98	B;P;B	0.45913	0.364;0.497;0.364	T	0.13818	-1.0495	10	0.87932	D	0	.	19.301	0.94144	0.0:0.0:1.0:0.0	.	748;748;748	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	Q	748;748;748;672;748;699;523	ENSP00000397026:R748Q;ENSP00000405596:R748Q;ENSP00000358134:R748Q;ENSP00000358133:R672Q;ENSP00000313276:R748Q;ENSP00000358130:R699Q	ENSP00000313276:R748Q	R	+	2	0	GRIK2	102590066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.555000	0.86185	0.655000	0.94253	CGG		0.453	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			
HTR6	3362	hgsc.bcm.edu	37	1	20005532	20005532	+	Missense_Mutation	SNP	G	G	C	rs549783007		TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr1:20005532G>C	ENST00000289753.1	+	3	1461	c.994G>C	c.(994-996)Ggc>Cgc	p.G332R		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	332					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GCGGGCGCTGGGCAGGTTCCT	0.652																																					Esophageal Squamous(168;1879 2619 6848 21062)												0													51.0	58.0	55.0					1																	20005532		2203	4300	6503	SO:0001583	missense	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.994G>C	1.37:g.20005532G>C	ENSP00000289753:p.Gly332Arg	Somatic		WXS	SOLID	Phase_I	Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	CCDS197.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372660	0.24857	.	.	ENSG00000158748	ENST00000289753	T	0.33216	1.42	5.39	3.52	0.40303	.	0.272268	0.34507	N	0.003910	T	0.18341	0.0440	L	0.27053	0.805	0.27817	N	0.941949	B	0.31485	0.325	B	0.21917	0.037	T	0.10019	-1.0648	9	.	.	.	.	11.1857	0.48655	0.1515:0.0:0.8485:0.0	.	332	P50406	5HT6R_HUMAN	R	332	ENSP00000289753:G332R	.	G	+	1	0	HTR6	19878119	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	3.168000	0.50801	0.774000	0.33427	-0.258000	0.10820	GGC		0.652	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1		NM_000871	
KIAA1755	85449	hgsc.bcm.edu;ucsc.edu	37	20	36869005	36869005	+	Nonsense_Mutation	SNP	G	G	A	rs41282820	byFrequency	TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr20:36869005G>A	ENST00000279024.4	-	3	1799	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	510										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GATTTGGCTCGGTTGGGTTTA	0.512													G|||	30	0.00599042	0.0008	0.0058	5008	,	,		21064	0.0		0.0099	False		,,,				2504	0.0153																0								G	stop/ARG	15,4391	22.3+/-47.3	0,15,2188	139.0	134.0	136.0		1528	-1.7	0.0	20	dbSNP_127	136	161,8439	75.7+/-138.4	0,161,4139	yes	stop-gained	KIAA1755	NM_001029864.1		0,176,6327	AA,AG,GG		1.8721,0.3404,1.3532		510/1201	36869005	176,12830	2203	4300	6503	SO:0001587	stop_gained	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1528C>T	20.37:g.36869005G>A	ENSP00000279024:p.Arg510*	Somatic		WXS	SOLID	Phase_I	Q9C0A8	Nonsense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	13	0.005952380952380952	2	0.0040650406504065045	4	0.011049723756906077	0	0.0	7	0.009234828496042216	G	37	6.015741	0.97205	0.003404	0.018721	ENSG00000149633	ENST00000279024;ENST00000373398	.	.	.	4.85	-1.73	0.08081	.	1.807010	0.03175	N	0.171268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4376	0.27164	0.0:0.3768:0.2594:0.3638	rs41282820	.	.	.	X	510;57	.	ENSP00000279024:R510X	R	-	1	2	KIAA1755	36302419	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.145000	0.10265	-0.058000	0.13177	-0.152000	0.13540	CGA		0.512	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3		NM_001029864	
KLC4	89953	hgsc.bcm.edu;ucsc.edu	37	6	43042370	43042370	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr6:43042370G>A	ENST00000394056.2	+	17	2315	c.1820G>A	c.(1819-1821)gGc>gAc	p.G607D	PTK7_ENST00000476760.1_5'Flank|KLC4_ENST00000259708.3_Missense_Mutation_p.G625D|KLC4_ENST00000453940.2_Missense_Mutation_p.G530D|KLC4_ENST00000479388.1_Missense_Mutation_p.G607D|RP11-387M24.5_ENST00000606123.1_RNA|PTK7_ENST00000352931.2_5'Flank|KLC4_ENST00000347162.5_Missense_Mutation_p.G607D|PTK7_ENST00000481273.1_5'Flank|KLC4_ENST00000394058.1_Missense_Mutation_p.G607D|PTK7_ENST00000345201.2_5'Flank|PTK7_ENST00000230419.4_5'Flank|PTK7_ENST00000471863.1_5'Flank|PTK7_ENST00000349241.2_5'Flank			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	607						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GTCTCCCGGGGCCTCAGTGCC	0.612																																																	0													121.0	106.0	111.0					6																	43042370		2203	4300	6503	SO:0001583	missense	89953			AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1820G>A	6.37:g.43042370G>A	ENSP00000377620:p.Gly607Asp	Somatic		WXS	SOLID	Phase_I	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740081	0.69304	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T	0.79247	-1.23;-1.25;-1.24;-1.23;-1.23;-1.23	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000011	D	0.83454	0.5258	L	0.59436	1.845	0.58432	D	0.999995	B;D;D	0.89917	0.005;1.0;1.0	B;D;D	0.91635	0.008;0.999;0.992	D	0.84458	0.0592	10	0.59425	D	0.04	-25.0516	16.1531	0.81636	0.0:0.0:1.0:0.0	.	530;625;607	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	D	607;530;625;607;607;607	ENSP00000340221:G607D;ENSP00000395806:G530D;ENSP00000259708:G625D;ENSP00000418031:G607D;ENSP00000377620:G607D;ENSP00000377622:G607D	ENSP00000259708:G625D	G	+	2	0	KLC4	43150348	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	7.834000	0.86773	2.549000	0.85964	0.462000	0.41574	GGC		0.612	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2		NM_138343	
KRT13	3860	hgsc.bcm.edu	37	17	39658938	39658938	+	Splice_Site	SNP	C	C	T	rs145167376		TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr17:39658938C>T	ENST00000246635.3	-	5	1070		c.e5+1		AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Splice_Site|KRT13_ENST00000336861.3_Splice_Site|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13						cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TGCAGGCATACCATGCTCAGC	0.597																																																	1	Unknown(1)	skin(1)											123.0	110.0	114.0					17																	39658938		2203	4300	6503	SO:0001630	splice_region_variant	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1023+1G>A	17.37:g.39658938C>T		Somatic		WXS	SOLID	Phase_I	Q53G54|Q6AZK5|Q8N240	Splice_Site	SNP	ENST00000246635.3	37	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077358	0.55753	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7991	0.78436	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT13	36912464	1.000000	0.71417	0.998000	0.56505	0.633000	0.38033	7.278000	0.78587	2.460000	0.83146	0.478000	0.44815	.		0.597	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1		NM_153490	Intron
MAP3K5	4217	hgsc.bcm.edu	37	6	137112970	137112970	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr6:137112970T>A	ENST00000359015.4	-	1	686	c.326A>T	c.(325-327)gAg>gTg	p.E109V		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	109					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGCCTCGCTCTCGGCCACCAC	0.652																																																	0													58.0	59.0	59.0					6																	137112970		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.326A>T	6.37:g.137112970T>A	ENSP00000351908:p.Glu109Val	Somatic		WXS	SOLID	Phase_I	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742222	0.89573	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.73469	-0.75	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.81211	0.4775	M	0.68952	2.095	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.84266	0.0486	10	0.87932	D	0	.	14.5734	0.68229	0.0:0.0:0.0:1.0	.	109	Q99683	M3K5_HUMAN	V	109;189	ENSP00000351908:E109V	ENSP00000351908:E109V	E	-	2	0	MAP3K5	137154663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.428000	0.66489	1.963000	0.57068	0.533000	0.62120	GAG		0.652	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			
MPPED2	744	hgsc.bcm.edu;ucsc.edu	37	11	30435856	30435856	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr11:30435856T>C	ENST00000358117.5	-	5	807	c.685A>G	c.(685-687)Aga>Gga	p.R229G	MPPED2_ENST00000448418.2_Missense_Mutation_p.R229G|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	229					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CAGCCCACTCTTTGAAGCTCC	0.448																																																	0													117.0	104.0	109.0					11																	30435856		2202	4299	6501	SO:0001583	missense	744			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.685A>G	11.37:g.30435856T>C	ENSP00000350833:p.Arg229Gly	Somatic		WXS	SOLID	Phase_I	D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	ENST00000358117.5	37	CCDS7870.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140138	0.77775	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	T;T	0.41758	0.99;0.99	5.92	4.74	0.60224	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	M	0.64567	1.98	0.80722	D	1	D;P	0.61697	0.99;0.946	P;P	0.56278	0.795;0.628	T	0.59123	-0.7513	10	0.59425	D	0.04	-11.1642	14.4751	0.67541	0.0:0.0:0.1301:0.8699	.	229;229	Q15777;E9PB10	MPPD2_HUMAN;.	G	229	ENSP00000388258:R229G;ENSP00000350833:R229G	ENSP00000350833:R229G	R	-	1	2	MPPED2	30392432	1.000000	0.71417	0.982000	0.44146	0.983000	0.72400	3.354000	0.52254	2.270000	0.75569	0.459000	0.35465	AGA		0.448	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2		NM_001584	
MED17	9440	hgsc.bcm.edu;ucsc.edu	37	11	93535101	93535101	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr11:93535101G>T	ENST00000251871.3	+	9	1716	c.1429G>T	c.(1429-1431)Gtt>Ttt	p.V477F	MED17_ENST00000533367.1_3'UTR|RN7SL195P_ENST00000582088.1_RNA	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	477					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGTGTGAAAGTTTTAATCAC	0.348																																																	0													77.0	69.0	72.0					11																	93535101		2201	4298	6499	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1429G>T	11.37:g.93535101G>T	ENSP00000251871:p.Val477Phe	Somatic		WXS	SOLID	Phase_I	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380146	0.95945	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.59224	0.28	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	L	0.47716	1.5	0.80722	D	1	D	0.64830	0.994	P	0.56278	0.795	T	0.69277	-0.5187	10	0.87932	D	0	-23.2483	20.1467	0.98079	0.0:0.0:1.0:0.0	.	477	Q9NVC6	MED17_HUMAN	F	477;447	ENSP00000251871:V477F	ENSP00000251871:V477F	V	+	1	0	MED17	93174749	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.419000	0.97397	2.838000	0.97847	0.655000	0.94253	GTT		0.348	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2		NM_004268	
MTMR4	9110	hgsc.bcm.edu	37	17	56584197	56584197	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr17:56584197T>A	ENST00000323456.5	-	10	1022	c.898A>T	c.(898-900)Aca>Tca	p.T300S	MTMR4_ENST00000579925.1_Missense_Mutation_p.T300S	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	300	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAGCTGCTGTGCTCTCCACT	0.582																																																	0													58.0	54.0	55.0					17																	56584197		2203	4300	6503	SO:0001583	missense	9110			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.898A>T	17.37:g.56584197T>A	ENSP00000325285:p.Thr300Ser	Somatic		WXS	SOLID	Phase_I	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	T	8.588	0.883883	0.17467	.	.	ENSG00000108389	ENST00000323456	D	0.92647	-3.08	5.63	2.15	0.27550	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.665350	0.15053	N	0.283193	T	0.69124	0.3076	N	0.00864	-1.135	0.28116	N	0.930814	B	0.02656	0.0	B	0.04013	0.001	T	0.63341	-0.6659	10	0.02654	T	1	.	4.6374	0.12531	0.1414:0.2911:0.0:0.5675	.	300	Q9NYA4	MTMR4_HUMAN	S	300	ENSP00000325285:T300S	ENSP00000325285:T300S	T	-	1	0	MTMR4	53939196	0.656000	0.27385	0.997000	0.53966	0.989000	0.77384	1.387000	0.34430	0.144000	0.18951	0.524000	0.50904	ACA		0.582	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1		NM_004687	
OBSL1	23363	hgsc.bcm.edu	37	2	220421377	220421377	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr2:220421377A>G	ENST00000404537.1	-	13	4191	c.4135T>C	c.(4135-4137)Ttc>Ctc	p.F1379L	OBSL1_ENST00000265318.4_Missense_Mutation_p.F1287L|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000603926.1_Missense_Mutation_p.F1379L|OBSL1_ENST00000265317.5_Missense_Mutation_p.F278L|OBSL1_ENST00000373876.1_Missense_Mutation_p.F1287L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1379	Ig-like 12.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.F1379V(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCACACCGGAACGTGGCATCA	0.627																																																	1	Substitution - Missense(1)	ovary(1)											51.0	56.0	54.0					2																	220421377		2171	4256	6427	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4135T>C	2.37:g.220421377A>G	ENSP00000385636:p.Phe1379Leu	Somatic		WXS	SOLID	Phase_I	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	A	2.352	-0.348715	0.05208	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000265317	T;T;T;T	0.65549	4.32;-0.16;-0.16;-0.16	4.16	4.16	0.48862	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63593	0.2524	L	0.31664	0.95	0.34133	D	0.665522	P;P;D;B	0.65815	0.565;0.747;0.995;0.11	P;P;D;B	0.83275	0.555;0.866;0.996;0.101	T	0.61158	-0.7119	9	0.02654	T	1	.	13.4259	0.61026	1.0:0.0:0.0:0.0	.	186;1380;1379;278	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	L	1287;1379;1287;278	ENSP00000265318:F1287L;ENSP00000385636:F1379L;ENSP00000362983:F1287L;ENSP00000265317:F278L	ENSP00000265317:F278L	F	-	1	0	OBSL1	220129621	0.999000	0.42202	0.871000	0.34182	0.175000	0.22909	4.111000	0.57838	1.766000	0.52107	0.254000	0.18369	TTC		0.627	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			
PALLD	23022	hgsc.bcm.edu	37	4	169842820	169842820	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr4:169842820G>A	ENST00000505667.1	+	18	3159	c.2986G>A	c.(2986-2988)Gcc>Acc	p.A996T	PALLD_ENST00000512127.1_Missense_Mutation_p.A597T|PALLD_ENST00000335742.7_Missense_Mutation_p.A821T|PALLD_ENST00000261509.6_Missense_Mutation_p.A979T|PALLD_ENST00000507735.1_Missense_Mutation_p.A492T|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1203					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTCACGTGATGCCGGCATCTA	0.537									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0													113.0	88.0	96.0					4																	169842820		2203	4300	6503	SO:0001583	missense	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2986G>A	4.37:g.169842820G>A	ENSP00000425556:p.Ala996Thr	Somatic		WXS	SOLID	Phase_I	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.439203|4.439203	0.83885|0.83885	.|.	.|.	ENSG00000129116|ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735|ENST00000503290	T;T;T;T;T|.	0.68025|.	-0.3;-0.3;-0.3;-0.3;-0.3|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.31897|.	U|.	0.006890|.	T|T	0.65801|0.65801	0.2726|0.2726	L|L	0.37850|0.37850	1.14|1.14	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.989;0.998;1.0|.	D;P;D;D|.	0.75484|.	0.986;0.904;0.963;0.986|.	T|T	0.60757|0.60757	-0.7200|-0.7200	10|5	0.33940|.	T|.	0.23|.	.|.	19.2994|19.2994	0.94138|0.94138	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	996;1203;597;979|.	B7ZMM5;Q8WX93;B3KTG2;B2RTX2|.	.;PALLD_HUMAN;.;.|.	T|Y	979;821;996;597;492|32	ENSP00000261509:A979T;ENSP00000336735:A821T;ENSP00000425556:A996T;ENSP00000426947:A597T;ENSP00000424016:A492T|.	ENSP00000261509:A979T|.	A|C	+|+	1|2	0|0	PALLD|PALLD	170079395|170079395	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.069000|0.069000	0.16628|0.16628	7.960000|7.960000	0.87893|0.87893	2.566000|2.566000	0.86566|0.86566	0.555000|0.555000	0.69702|0.69702	GCC|TGC		0.537	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1		NM_016081	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52621464	52621464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr3:52621464G>A	ENST00000296302.7	-	19	3029	c.3028C>T	c.(3028-3030)Cga>Tga	p.R1010*	PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1010*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1010*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1025*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1025*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R978*|PBRM1_ENST00000410007.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1010	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1010*(4)|p.R978*(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGAAATTTTCGTGTAGCCAGG	0.398			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(6)	kidney(6)											71.0	72.0	71.0					3																	52621464		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3028C>T	3.37:g.52621464G>A	ENSP00000296302:p.Arg1010*	Somatic		WXS	SOLID	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	39	7.356284	0.98231	.	.	ENSG00000163939	ENST00000356770;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.92	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0857	0.72151	0.0:0.0:0.668:0.332	.	.	.	.	X	978;1010;1010;1010;1025;1025;1009;968	.	ENSP00000296302:R1010X	R	-	1	2	PBRM1	52596504	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.097000	0.50251	1.458000	0.47871	0.655000	0.94253	CGA		0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCK1	5105	hgsc.bcm.edu	37	20	56136506	56136506	+	Silent	SNP	C	C	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr20:56136506C>T	ENST00000319441.4	+	2	203	c.39C>T	c.(37-39)gcC>gcT	p.A13A	PCK1_ENST00000543666.1_5'UTR|PCK1_ENST00000535860.1_5'Flank	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	13					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ACCTCTCGGCCAAAGTTGTCC	0.542																																																	0													91.0	89.0	90.0					20																	56136506		2203	4300	6503	SO:0001819	synonymous_variant	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.39C>T	20.37:g.56136506C>T		Somatic		WXS	SOLID	Phase_I	A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	CCDS13460.1																																																																																				0.542	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			
PDGFRB	5159	hgsc.bcm.edu	37	5	149506122	149506122	+	Silent	SNP	G	G	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr5:149506122G>C	ENST00000261799.4	-	11	2104	c.1635C>G	c.(1633-1635)acC>acG	p.T545T		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	545					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGAGATGATGGTGAGCACCA	0.532			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0													128.0	98.0	108.0					5																	149506122		2203	4300	6503	SO:0001819	synonymous_variant	5159			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1635C>G	5.37:g.149506122G>C		Somatic		WXS	SOLID	Phase_I	B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	CCDS4303.1																																																																																				0.532	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1		NM_002609	
PHLPP2	23035	hgsc.bcm.edu;ucsc.edu	37	16	71689235	71689235	+	Silent	SNP	C	C	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr16:71689235C>T	ENST00000568954.1	-	17	2871	c.2493G>A	c.(2491-2493)ctG>ctA	p.L831L	PHLPP2_ENST00000360429.3_Silent_p.L831L|PHLPP2_ENST00000356272.3_Silent_p.L831L|PHLPP2_ENST00000393524.2_Silent_p.L764L|PHLPP2_ENST00000567016.1_Silent_p.L866L|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000540628.1_Silent_p.L41L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	831	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCGTACACTGCAGCAGGCGCG	0.498																																																	0													215.0	201.0	206.0					16																	71689235		2198	4300	6498	SO:0001819	synonymous_variant	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2493G>A	16.37:g.71689235C>T		Somatic		WXS	SOLID	Phase_I	A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	CCDS32479.1																																																																																				0.498	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1		NM_015020	
POLR2B	5431	hgsc.bcm.edu;ucsc.edu	37	4	57873145	57873145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr4:57873145C>T	ENST00000381227.1	+	11	1794	c.1381C>T	c.(1381-1383)Caa>Taa	p.Q461*	POLR2B_ENST00000431623.2_Nonsense_Mutation_p.Q386*|POLR2B_ENST00000314595.5_Nonsense_Mutation_p.Q461*|POLR2B_ENST00000441246.2_Nonsense_Mutation_p.Q454*			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	461					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GAAAGCTCATCAAGCCAGAGC	0.388																																																	0													72.0	77.0	75.0					4																	57873145		2203	4300	6503	SO:0001587	stop_gained	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1381C>T	4.37:g.57873145C>T	ENSP00000370625:p.Gln461*	Somatic		WXS	SOLID	Phase_I	A8K1A8|Q8IZ61	Nonsense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	C	41	8.984456	0.99025	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	19.098	0.93260	0.0:1.0:0.0:0.0	.	.	.	.	X	461;386;454;461	.	ENSP00000312735:Q461X	Q	+	1	0	POLR2B	57567902	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.658000	0.83755	2.600000	0.87896	0.655000	0.94253	CAA		0.388	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1		NM_000938	
POLR3A	11128	hgsc.bcm.edu;ucsc.edu	37	10	79744977	79744977	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr10:79744977G>C	ENST00000372371.3	-	24	3330	c.3193C>G	c.(3193-3195)Ctg>Gtg	p.L1065V		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1065					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGCACGCCCAGGGTGATGTTC	0.547																																																	0													140.0	136.0	137.0					10																	79744977		2203	4300	6503	SO:0001583	missense	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3193C>G	10.37:g.79744977G>C	ENSP00000361446:p.Leu1065Val	Somatic		WXS	SOLID	Phase_I	Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775982	0.70107	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.71103	-0.54	5.95	5.95	0.96441	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.64402	D	0.000001	T	0.82208	0.4987	M	0.92169	3.28	0.58432	D	0.999994	D	0.52996	0.957	P	0.52189	0.692	D	0.85586	0.1243	9	.	.	.	-17.5573	10.3865	0.44143	0.1491:0.0:0.8509:0.0	.	1065	O14802	RPC1_HUMAN	V	1065;1044	ENSP00000361446:L1065V	.	L	-	1	2	POLR3A	79414983	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.462000	0.60121	2.822000	0.97130	0.563000	0.77884	CTG		0.547	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1		NM_007055	
POMT1	10585	hgsc.bcm.edu	37	9	134397604	134397604	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr9:134397604C>G	ENST00000372228.3	+	19	2241	c.2062C>G	c.(2062-2064)Ctg>Gtg	p.L688V	POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Missense_Mutation_p.L666V|POMT1_ENST00000354713.4_Missense_Mutation_p.L636V|POMT1_ENST00000541219.1_Missense_Mutation_p.L406V|POMT1_ENST00000341012.7_Missense_Mutation_p.L612V|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000423007.1_Missense_Mutation_p.L666V|POMT1_ENST00000404875.2_Missense_Mutation_p.L549V|POMT1_ENST00000419118.2_Missense_Mutation_p.L514V	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	688					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CAGCGACCACCTGTGCAGGTA	0.612																																																	0													91.0	69.0	76.0					9																	134397604		2203	4300	6503	SO:0001583	missense	10585			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.2062C>G	9.37:g.134397604C>G	ENSP00000361302:p.Leu688Val	Somatic		WXS	SOLID	Phase_I	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961380	0.34565	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713;ENST00000372220	D;D;D;D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.0	5.51	4.55	0.56014	.	0.141786	0.48767	D	0.000172	D	0.88306	0.6401	L	0.28458	0.855	0.54753	D	0.999989	B;B;B;B	0.24651	0.044;0.019;0.108;0.032	B;B;B;B	0.24269	0.021;0.021;0.027;0.052	D	0.84618	0.0682	10	0.30078	T	0.28	-11.0303	14.2036	0.65721	0.15:0.85:0.0:0.0	.	636;406;688;666	B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	V	666;549;612;688;666;514;406;636;287	ENSP00000404119:L666V;ENSP00000384531:L549V;ENSP00000343034:L612V;ENSP00000361302:L688V;ENSP00000385797:L666V;ENSP00000403032:L514V;ENSP00000440895:L406V;ENSP00000346748:L636V;ENSP00000361294:L287V	ENSP00000343034:L612V	L	+	1	2	POMT1	133387425	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	2.806000	0.47947	2.589000	0.87451	0.555000	0.69702	CTG		0.612	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1		NM_007171	
PRC1	9055	hgsc.bcm.edu;ucsc.edu	37	15	91523521	91523521	+	Silent	SNP	C	C	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr15:91523521C>T	ENST00000361188.5	-	7	2132	c.921G>A	c.(919-921)caG>caA	p.Q307Q	Y_RNA_ENST00000363272.1_RNA|PRC1_ENST00000361919.3_Silent_p.Q307Q|PRC1_ENST00000394249.3_Silent_p.Q307Q|PRC1_ENST00000442656.2_Silent_p.Q266Q|PRC1-AS1_ENST00000554388.1_RNA					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TATAAAAGCACTGGTCCCAGT	0.448																																																	0													175.0	145.0	155.0					15																	91523521		2198	4298	6496	SO:0001819	synonymous_variant	9055			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.921G>A	15.37:g.91523521C>T		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000361188.5	37	CCDS45352.1																																																																																				0.448	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1		NM_003981	
RBM15	64783	hgsc.bcm.edu	37	1	110883715	110883715	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr1:110883715G>A	ENST00000369784.3	+	1	2588	c.1688G>A	c.(1687-1689)gGt>gAt	p.G563D	RBM15_ENST00000487146.2_Missense_Mutation_p.G563D|RBM15_ENST00000602849.1_Missense_Mutation_p.G563D|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	563					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G563R(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCTTTGAGGGGTGCTCGGGAT	0.547			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	1	Substitution - Missense(1)	ovary(1)											56.0	50.0	52.0					1																	110883715		2203	4300	6503	SO:0001583	missense	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1688G>A	1.37:g.110883715G>A	ENSP00000358799:p.Gly563Asp	Somatic		WXS	SOLID	Phase_I	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352160	0.41700	.	.	ENSG00000162775	ENST00000369784	T	0.19105	2.17	4.44	3.53	0.40419	.	0.316936	0.22740	N	0.056207	T	0.06050	0.0157	L	0.36672	1.1	0.34883	D	0.744738	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.18272	-1.0342	10	0.12766	T	0.61	-1.7109	12.1937	0.54284	0.0827:0.0:0.9173:0.0	.	563;563	Q96T37-3;Q96T37	.;RBM15_HUMAN	D	563	ENSP00000358799:G563D	ENSP00000358799:G563D	G	+	2	0	RBM15	110685238	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.323000	0.52014	1.092000	0.41356	0.655000	0.94253	GGT		0.547	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2		NM_022768	
RPS6KB2	6199	hgsc.bcm.edu	37	11	67197002	67197002	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr11:67197002T>G	ENST00000312629.5	+	4	290	c.245T>G	c.(244-246)tTc>tGc	p.F82C	RPS6KB2_ENST00000539188.1_Missense_Mutation_p.F82C|RPS6KB2_ENST00000524814.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CTACAGGTGTTCCAGGTGCGA	0.527																																																	0													68.0	67.0	68.0					11																	67197002		1963	4146	6109	SO:0001583	missense	6199			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.245T>G	11.37:g.67197002T>G	ENSP00000308413:p.Phe82Cys	Somatic		WXS	SOLID	Phase_I	B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517298	0.85495	.	.	ENSG00000175634	ENST00000524934;ENST00000524814;ENST00000539188;ENST00000312629	T;T;T	0.78364	-1.17;-0.23;1.74	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.82421	0.5033	L	0.35487	1.065	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84749	0.0755	10	0.87932	D	0	.	14.8001	0.69909	0.0:0.0:0.0:1.0	.	82;82	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	C	105;82;82;82	ENSP00000436811:F105C;ENSP00000442949:F82C;ENSP00000308413:F82C	ENSP00000308413:F82C	F	+	2	0	RPS6KB2	66953578	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.285000	0.78660	1.966000	0.57179	0.533000	0.62120	TTC		0.527	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1		NM_003952	
RTN4IP1	84816	hgsc.bcm.edu;ucsc.edu	37	6	107069326	107069326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr6:107069326C>A	ENST00000369063.3	-	3	934	c.469G>T	c.(469-471)Gag>Tag	p.E157*	RTN4IP1_ENST00000539449.1_Nonsense_Mutation_p.E157*	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	157						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ACAACAAACTCTGAAAGAGTG	0.408																																																	0													108.0	110.0	109.0					6																	107069326		2203	4300	6503	SO:0001587	stop_gained	84816			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.469G>T	6.37:g.107069326C>A	ENSP00000358059:p.Glu157*	Somatic		WXS	SOLID	Phase_I	Q8N9B3|Q8WZ66|Q9BRA4	Nonsense_Mutation	SNP	ENST00000369063.3	37	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	C	42	9.621552	0.99221	.	.	ENSG00000130347	ENST00000539449;ENST00000369063	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-37.0087	19.4436	0.94836	0.0:1.0:0.0:0.0	.	.	.	.	X	157	.	ENSP00000358059:E157X	E	-	1	0	RTN4IP1	107176019	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.877000	0.75562	2.894000	0.99253	0.591000	0.81541	GAG		0.408	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			
SLCO1B1	10599	hgsc.bcm.edu	37	12	21355424	21355424	+	Splice_Site	SNP	G	G	T	rs143895524		TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr12:21355424G>T	ENST00000256958.2	+	10	1231		c.e10-1			NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTTTTTTCTAGGAGTCATAAC	0.269																																																	1	Unknown(1)	skin(1)											32.0	34.0	33.0					12																	21355424		2203	4291	6494	SO:0001630	splice_region_variant	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1136-1G>T	12.37:g.21355424G>T		Somatic		WXS	SOLID	Phase_I	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Splice_Site	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680879	0.29872	.	.	ENSG00000134538	ENST00000256958	.	.	.	3.23	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7732	0.51970	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLCO1B1	21246691	1.000000	0.71417	0.906000	0.35671	0.012000	0.07955	6.975000	0.76128	1.783000	0.52377	0.484000	0.47621	.		0.269	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1		NM_006446	Intron
SMCHD1	23347	hgsc.bcm.edu;ucsc.edu	37	18	2796405	2796405	+	Splice_Site	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr18:2796405G>A	ENST00000320876.6	+	47	6217	c.5879G>A	c.(5878-5880)gGt>gAt	p.G1960D	RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1960					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATCTTCACAGGTATGACTCCC	0.333																																																	0													47.0	42.0	44.0					18																	2796405		1848	4104	5952	SO:0001630	splice_region_variant	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.5879-1G>A	18.37:g.2796405G>A		Somatic		WXS	SOLID	Phase_I	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717138	0.30413	.	.	ENSG00000101596	ENST00000320876	T	0.29655	1.56	5.11	5.11	0.69529	.	.	.	.	.	T	0.50120	0.1597	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	P	0.60949	0.881	T	0.43814	-0.9368	8	.	.	.	.	17.4714	0.87647	0.0:0.0:1.0:0.0	.	1960	A6NHR9	SMHD1_HUMAN	D	1960	ENSP00000326603:G1960D	.	G	+	2	0	SMCHD1	2786405	1.000000	0.71417	0.985000	0.45067	0.913000	0.54294	5.963000	0.70372	2.514000	0.84764	0.655000	0.94253	GGT		0.333	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			Missense_Mutation
SYNE1	23345	hgsc.bcm.edu	37	6	152461141	152461141	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr6:152461141G>T	ENST00000367255.5	-	140	26003	c.25402C>A	c.(25402-25404)Cgt>Agt	p.R8468S	SYNE1_ENST00000265368.4_Missense_Mutation_p.R8468S|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.R623S|SYNE1_ENST00000354674.4_Missense_Mutation_p.R646S|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8420S|SYNE1_ENST00000341594.5_Missense_Mutation_p.R8080S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8420S|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2992S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8468			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTTCCAGACGCTGGAGCTGT	0.557										HNSCC(10;0.0054)																																							0													121.0	99.0	106.0					6																	152461141		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25402C>A	6.37:g.152461141G>T	ENSP00000356224:p.Arg8468Ser	Somatic		WXS	SOLID	Phase_I	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	1.431	-0.570317	0.03910	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.92	5.04	0.67666	.	0.227351	0.31156	N	0.008147	T	0.22166	0.0534	L	0.46157	1.445	0.09310	N	1	P;P;B;P;B	0.34815	0.47;0.47;0.415;0.47;0.008	B;B;B;B;B	0.42112	0.376;0.376;0.259;0.376;0.03	T	0.15983	-1.0418	10	0.19147	T	0.46	.	10.5768	0.45231	0.0683:0.0:0.7974:0.1342	.	8468;8468;8420;8420;670	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	S	8468;623;1114;8420;8468;8420;8080;2992;653;648;1413;646	ENSP00000356224:R8468S;ENSP00000441052:R623S;ENSP00000356226:R1114S;ENSP00000396024:R8420S;ENSP00000265368:R8468S;ENSP00000390975:R8420S;ENSP00000341887:R8080S;ENSP00000349276:R2992S;ENSP00000356220:R1413S;ENSP00000346701:R646S	ENSP00000265368:R8468S	R	-	1	0	SYNE1	152502834	0.000000	0.05858	0.037000	0.18230	0.206000	0.24218	0.727000	0.25999	1.465000	0.48006	0.561000	0.74099	CGT		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961	
TCHHL1	126637	hgsc.bcm.edu;ucsc.edu	37	1	152058664	152058664	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr1:152058664T>G	ENST00000368806.1	-	3	1558	c.1494A>C	c.(1492-1494)agA>agC	p.R498S		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	498							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AATCTTGTGTTCTTTCTCTTG	0.488																																																	0													244.0	207.0	219.0					1																	152058664		2203	4300	6503	SO:0001583	missense	126637				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1494A>C	1.37:g.152058664T>G	ENSP00000357796:p.Arg498Ser	Somatic		WXS	SOLID	Phase_I	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	10.74	1.434360	0.25813	.	.	ENSG00000182898	ENST00000368806	T	0.55588	0.51	5.59	-4.3	0.03710	.	0.161351	0.29314	N	0.012504	T	0.09335	0.0230	N	0.15975	0.35	0.09310	N	1	B	0.12013	0.005	B	0.18263	0.021	T	0.35895	-0.9770	10	0.15499	T	0.54	-6.6796	6.5482	0.22418	0.0:0.3931:0.2477:0.3592	.	498	Q5QJ38	TCHL1_HUMAN	S	498	ENSP00000357796:R498S	ENSP00000357796:R498S	R	-	3	2	TCHHL1	150325288	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.886000	0.04157	-0.577000	0.05967	-2.651000	0.00149	AGA		0.488	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2		XM_060104	
TNFSF10	8743	hgsc.bcm.edu;ucsc.edu	37	3	172232773	172232773	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr3:172232773A>T	ENST00000241261.2	-	2	270	c.148T>A	c.(148-150)Tcc>Acc	p.S50T	TNFSF10_ENST00000420541.2_Missense_Mutation_p.S50T	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	50					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCACTTTTGGAGTACTTGTCC	0.393																																																	0													135.0	134.0	134.0					3																	172232773		2203	4300	6503	SO:0001583	missense	8743			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.148T>A	3.37:g.172232773A>T	ENSP00000241261:p.Ser50Thr	Somatic		WXS	SOLID	Phase_I	A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	37	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	A	8.457	0.854412	0.17106	.	.	ENSG00000121858	ENST00000241261;ENST00000420541	T;T	0.35236	1.32;1.32	5.61	1.53	0.23141	.	0.451849	0.27531	N	0.018943	T	0.26919	0.0659	L	0.57536	1.79	0.29675	N	0.842138	B;B	0.33637	0.42;0.144	B;B	0.25506	0.061;0.03	T	0.14420	-1.0473	10	0.26408	T	0.33	-0.4466	8.3738	0.32432	0.4835:0.3906:0.0:0.1259	.	50;50	A1Y9B3;P50591	.;TNF10_HUMAN	T	50	ENSP00000241261:S50T;ENSP00000389931:S50T	ENSP00000241261:S50T	S	-	1	0	TNFSF10	173715467	1.000000	0.71417	0.479000	0.27329	0.265000	0.26407	3.010000	0.49559	0.365000	0.24400	-0.336000	0.08194	TCC		0.393	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			
TRPM7	54822	hgsc.bcm.edu;ucsc.edu	37	15	50899483	50899483	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr15:50899483G>C	ENST00000313478.7	-	20	2904	c.2623C>G	c.(2623-2625)Ctt>Gtt	p.L875V	TRPM7_ENST00000560955.1_Missense_Mutation_p.L875V	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	875					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATTTGTACAAGAACCACAAAT	0.289																																																	0													75.0	71.0	72.0					15																	50899483		1821	4063	5884	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2623C>G	15.37:g.50899483G>C	ENSP00000320239:p.Leu875Val	Somatic		WXS	SOLID	Phase_I	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064241	0.76187	.	.	ENSG00000092439	ENST00000313478	T	0.72942	-0.7	5.45	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.73916	0.3648	M	0.88979	2.995	0.58432	D	0.99999	B	0.22541	0.071	B	0.22880	0.042	T	0.76377	-0.2981	10	0.87932	D	0	-15.645	10.9945	0.47567	0.1435:0.0:0.8565:0.0	.	875	Q96QT4	TRPM7_HUMAN	V	875	ENSP00000320239:L875V	ENSP00000320239:L875V	L	-	1	0	TRPM7	48686775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.791000	0.75120	2.552000	0.86080	0.557000	0.71058	CTT		0.289	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1		NM_017672	
UTP14A	10813	hgsc.bcm.edu;ucsc.edu	37	X	129054543	129054543	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chrX:129054543A>T	ENST00000394422.3	+	9	891	c.863A>T	c.(862-864)aAg>aTg	p.K288M	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.K120M|UTP14A_ENST00000371051.5_Missense_Mutation_p.K234M|UTP14A_ENST00000425117.2_Missense_Mutation_p.K236M	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	288					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAATTGAAAAGGCCAGAATG	0.473																																																	0													129.0	129.0	129.0					X																	129054543		2203	4300	6503	SO:0001583	missense	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.863A>T	X.37:g.129054543A>T	ENSP00000377944:p.Lys288Met	Somatic		WXS	SOLID	Phase_I	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305176	0.60305	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	6.17	0.984	0.19773	.	0.340984	0.35179	N	0.003400	T	0.34861	0.0912	M	0.71920	2.185	0.38291	D	0.942691	D;B;D	0.69078	0.997;0.119;0.991	P;B;P	0.62740	0.906;0.114;0.898	T	0.12553	-1.0543	10	0.46703	T	0.11	-13.2251	6.246	0.20818	0.6784:0.1205:0.201:0.0	.	234;236;288	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	M	236;288;234;120;120	ENSP00000388669:K236M;ENSP00000377944:K288M;ENSP00000360090:K234M;ENSP00000413187:K120M;ENSP00000360081:K120M	ENSP00000360081:K120M	K	+	2	0	UTP14A	128882224	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	1.272000	0.33109	0.062000	0.16340	0.486000	0.48141	AAG		0.473	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1		NM_006649	
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10188289	10188289	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr3:10188289delA	ENST00000256474.2	+	2	1272	c.432delA	c.(430-432)ggafs	p.G144fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	144	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q145fs*12(1)|p.G144fs*14(1)|p.S139fs*12(1)|p.G144fs*19(1)|p.Q145fs*14(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATGTTGACGGACAGCCTATTT	0.418		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	5	Deletion - Frameshift(5)	kidney(5)											218.0	201.0	206.0					3																	10188289		2203	4300	6503	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.432delA	3.37:g.10188289delA	ENSP00000256474:p.Gly144fs	Somatic		WXS	SOLID	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.418	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZBTB48	3104	hgsc.bcm.edu	37	1	6640756	6640756	+	Silent	SNP	T	T	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr1:6640756T>A	ENST00000377674.4	+	2	245	c.87T>A	c.(85-87)acT>acA	p.T29T		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	29	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GCGACGCCACTCTGGACGTGG	0.617																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)												0													77.0	75.0	76.0					1																	6640756		2203	4300	6503	SO:0001819	synonymous_variant	3104			BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.87T>A	1.37:g.6640756T>A		Somatic		WXS	SOLID	Phase_I	Q5SY19	Silent	SNP	ENST00000377674.4	37	CCDS84.1																																																																																				0.617	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1		NM_005341	
ZNF385B	151126	hgsc.bcm.edu;ucsc.edu	37	2	180383279	180383279	+	Silent	SNP	G	G	A			TCGA-BP-4341-01A-01D-1366-10	TCGA-BP-4341-11A-01D-1366-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d641189e-e44b-45e1-b753-73414d7ad31a	70039797-32c1-4349-bb4d-10f6ed415195	g.chr2:180383279G>A	ENST00000410066.1	-	5	1086	c.483C>T	c.(481-483)gtC>gtT	p.V161V	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Silent_p.V59V|ZNF385B_ENST00000409343.1_Silent_p.V85V|ZNF385B_ENST00000409692.1_Silent_p.V59V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	161	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GAAGCTGACAGACATTACAAG	0.358																																					Colon(155;204 2491 32774 51842)												0													113.0	115.0	115.0					2																	180383279		2203	4300	6503	SO:0001819	synonymous_variant	151126			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.483C>T	2.37:g.180383279G>A		Somatic		WXS	SOLID	Phase_I	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	CCDS33339.1																																																																																				0.358	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1		NM_152520	
