#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_IGV	i_Mutation_Status	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	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_dbSNPPopFreq	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_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
KAZN	23254	hgsc.bcm.edu	37	1	15439098	15439098	+	Intron	SNP	C	C	T	rs114844404		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr1:15439098C>T	ENST00000376030.2	+	14	2457					NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein						keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CTTTTTTTCTCCTCCCGGGAG	0.587																																					.													.	.			0			.																																									SO:0001627	intron_variant	200197	.			TTTTCTCCTCCCG	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.2163+61C>T	1.37:g.15439098C>T			Somatic	89	0	0		WXS	Illumina HiSeq	.	76	0.49	37	.	2	0.00	0	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	RNA	SNP	ENST00000376030.2	37	CCDS152.2																																																																																					0.587	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005690.2		NM_001017999	
Unknown	0	bcgsc.ca	37	1	16976670	16976670	+	IGR	SNP	C	C	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr1:16976670C>T								CROCCP2 (15616 upstream) : RNU1-3 (16609 downstream)																							GCTGGCCAGCCGTCTTCACGC	0.557																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	11209	.			GCCAGCCGTCTTC																													1.37:g.16976670C>T			Somatic	593	0.0741989882	44		WXS	Illumina HiSeq	Phase_1	486	0.15	75	.	9	0.22	2		RNA	SNP		37																																																																																					0	0.557										
C1orf194	127003	hgsc.bcm.edu	37	1	109650648	109650648	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr1:109650648A>T	ENST00000369948.3	-	2	168	c.93T>A	c.(91-93)taT>taA	p.Y31*	C1orf194_ENST00000369945.3_Intron|C1orf194_ENST00000369949.4_Nonsense_Mutation_p.Y19*			Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	31										large_intestine(2)|lung(2)|ovary(2)	6						TTGGGTTCTTATATGGCAATT	0.483																																					p.Y19X													.	.			0			c.T57A												187.0	173.0	177.0					1																	109650648		1568	3581	5149	SO:0001587	stop_gained	127003	exon2			GTTCTTATATGGC		CCDS41364.1	1p13.3	2011-03-31			ENSG00000179902	ENSG00000179902			32331	protein-coding gene	gene with protein product							Standard	NM_001122961		Approved		uc009wew.3	Q5T5A4	OTTHUMG00000011735	ENST00000369948.3:c.93T>A	1.37:g.109650648A>T	ENSP00000358964:p.Tyr31*		Somatic	70	0	0		WXS	Illumina HiSeq	.	62	0.11	7	NM_001122961	2	0.50	1	Q5T5A3	Nonsense_Mutation	SNP	ENST00000369948.3	37		.	.	.	.	.	.	.	.	.	.	N	27.4	4.825348	0.90955	.	.	ENSG00000179902	ENST00000369949;ENST00000369948	.	.	.	4.01	0.646	0.17789	.	0.623994	0.14389	N	0.322658	.	.	.	.	.	.	0.36086	D	0.843092	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3433	6.944	0.24508	0.6723:0.0:0.3277:0.0	.	.	.	.	X	19;31	.	ENSP00000358964:Y31X	Y	-	3	2	C1orf194	109452171	0.097000	0.21791	0.189000	0.23252	0.941000	0.58515	0.252000	0.18278	0.009000	0.14813	-0.379000	0.06801	TAT			0.483	C1orf194-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000032416.2		NM_001122961	
DENND1B	163486	hgsc.bcm.edu	37	1	197704897	197704897	+	Intron	SNP	G	G	C			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr1:197704897G>C	ENST00000367396.3	-	3	252				DENND1B_ENST00000235453.4_5'UTR|DENND1B_ENST00000400967.2_5'Flank|DENND1B_ENST00000477581.1_5'UTR	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B						positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTTCCAGGGGGAATCCTCGGC	0.478																																					p.P38A													.	.			0			c.C112G																																									SO:0001627	intron_variant	163486	exon3			CAGGGGGAATCCT	BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.83-20693C>G	1.37:g.197704897G>C			Somatic	47	0	0		WXS	Illumina HiSeq	.	47	0.34	16	NM_001195216	3	0.33	1	B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	ENST00000367396.3	37	CCDS41452.2																																																																																					0.478	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086539.1		NM_144977	
IKBKE	9641	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	206650044	206650044	+	Silent	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr1:206650044G>A	ENST00000367120.3	+	7	937	c.564G>A	c.(562-564)gcG>gcA	p.A188A	IKBKE_ENST00000537984.1_Silent_p.A103A	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ATGAGCGGGCGGTGCTTCGAA	0.602																																					p.A188A													.	IKBKE	77		0			c.G564A												64.0	55.0	58.0					1																	206650044		2203	4300	6503	SO:0001819	synonymous_variant	0	exon7			GCGGGCGGTGCTT	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.564G>A	1.37:g.206650044G>A			Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	95	0.05	5	NM_001193322	4	0.00	0	D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	CCDS30996.1																																																																																					0.602	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088484.1			
JMJD1C	221037	mdanderson.org	37	10	64946050	64946050	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr10:64946050G>T	ENST00000399262.2	-	19	6882	c.6664C>A	c.(6664-6666)Ctc>Atc	p.L2222I	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.L2040I|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L1985I	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2222					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CAGTTCAGGAGATCAGCTTGG	0.368																																					p.L2222I													.	.			0			c.C6664A												114.0	107.0	109.0					10																	64946050		1868	4096	5964	SO:0001583	missense	221037	exon19			TCAGGAGATCAGC	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6664C>A	10.37:g.64946050G>T	ENSP00000382204:p.Leu2222Ile		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_032776	36	0.00	0	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930342	0.52866	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.70399	-0.48;-0.48;-0.48	5.66	3.82	0.43975	.	0.061508	0.64402	D	0.000005	T	0.56232	0.1971	L	0.37850	1.14	0.80722	D	1	B;B;B	0.30542	0.284;0.284;0.002	B;B;B	0.30251	0.085;0.113;0.013	T	0.48068	-0.9067	9	.	.	.	-3.9625	7.9859	0.30212	0.1406:0.0:0.7288:0.1306	.	2040;2222;2040	B7ZLC8;Q15652;A0T124	.;JHD2C_HUMAN;.	I	2222;1985;2040	ENSP00000382204:L2222I;ENSP00000384990:L1985I;ENSP00000444682:L2040I	.	L	-	1	0	JMJD1C	64616056	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	6.003000	0.70701	0.870000	0.35726	0.650000	0.86243	CTC			0.368	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048249.2		NM_004241	
RRP12	23223	mdanderson.org	37	10	99126540	99126540	+	Silent	SNP	C	C	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr10:99126540C>T	ENST00000370992.4	-	27	3285	c.3174G>A	c.(3172-3174)gaG>gaA	p.E1058E	RRP12_ENST00000536831.1_Silent_p.E776E|RRP12_ENST00000315563.6_Silent_p.E958E|RRP12_ENST00000414986.1_Silent_p.E997E|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1058	Glu-rich.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		cctcctcctcctcttcttcct	0.662																																					p.E1058E													.	.			0			c.G3174A												94.0	108.0	103.0					10																	99126540		2203	4300	6503	SO:0001819	synonymous_variant	23223	exon27			CTCCTCCTCTTCT		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3174G>A	10.37:g.99126540C>T			Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	64	0.06	4	NM_015179	13	0.00	0	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																					0.662	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000049699.4		NM_015179	
NRAP	4892	mdanderson.org	37	10	115385817	115385817	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr10:115385817G>T	ENST00000359988.3	-	21	2477	c.2233C>A	c.(2233-2235)Cta>Ata	p.L745I	NRAP_ENST00000369360.3_Missense_Mutation_p.L718I|NRAP_ENST00000369358.4_Missense_Mutation_p.L753I|NRAP_ENST00000360478.3_Missense_Mutation_p.L710I	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCGCTCTGTAGCTCCTGGCTC	0.612																																					p.L745I													.	.			0			c.C2233A												102.0	74.0	83.0					10																	115385817		2203	4300	6503	SO:0001583	missense	4892	exon21			TCTGTAGCTCCTG		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2233C>A	10.37:g.115385817G>T	ENSP00000353078:p.Leu745Ile		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_001261463	0		0		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552850	0.45487	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.99	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.52403	0.1732	L	0.31752	0.955	0.34879	D	0.744376	D;D;P;D	0.89917	0.998;1.0;0.911;0.999	D;D;P;D	0.91635	0.999;0.999;0.821;0.991	T	0.59032	-0.7530	10	0.25751	T	0.34	.	11.0214	0.47720	0.0675:0.0:0.8031:0.1294	.	425;745;710;745	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	I	753;718;745;710;425	ENSP00000358365:L753I;ENSP00000358367:L718I;ENSP00000353078:L745I;ENSP00000353666:L710I	ENSP00000353078:L745I	L	-	1	2	NRAP	115375807	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	3.491000	0.53252	1.529000	0.49120	0.655000	0.94253	CTA			0.612	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050425.2		NM_006175	
MUC2	4583	hgsc.bcm.edu	37	11	1092602	1092619	+	In_Frame_Del	DEL	CCACCACTCCCAGCCCTC	CCACCACTCCCAGCCCTC	-	rs201595190|rs201608750|rs547682241	byFrequency	TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	CCACCACTCCCAGCCCTC	CCACCACTCCCAGCCCTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:1092602_1092619delCCACCACTCCCAGCCCTC	ENST00000441003.2	+	30	4448_4465	c.4421_4438delCCACCACTCCCAGCCCTC	c.(4420-4440)accaccactcccagccctcca>aca	p.TTPSPP1475del	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_In_Frame_Del_p.TTPSPP1476del|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4210	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	agccctccaaccaccactcccagccctccaaccaccac	0.628																																					p.1474_1479del													.	MUC2	614		0			c.4420_4437del									764,1992		44,676,658						-2.6	0.0		dbSNP_134	244	1546,3660		46,1454,1103	no	coding	MUC2	NM_002457.2		90,2130,1761	A1A1,A1R,RR		29.6965,27.7213,29.0128				2310,5652				SO:0001651	inframe_deletion	4583	exon30			CTCCAACCACCAC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4421_4438delCCACCACTCCCAGCCCTC	11.37:g.1092602_1092619delCCACCACTCCCAGCCCTC	ENSP00000415183:p.Thr1475_Pro1480del		Somatic	145	0	0		WXS	Illumina HiSeq	.	119	0.18	21	NM_002457	6	0.00	0	Q14878	In_Frame_Del	DEL	ENST00000441003.2	37																																																																																						0.628	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457	
STK33	65975	mdanderson.org	37	11	8474400	8474400	+	Silent	SNP	C	C	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:8474400C>T	ENST00000447869.1	-	7	1758	c.840G>A	c.(838-840)ctG>ctA	p.L280L	STK33_ENST00000358872.3_Silent_p.L93L|STK33_ENST00000315204.1_Silent_p.L280L|STK33_ENST00000396673.1_Silent_p.L280L|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_Silent_p.L280L|STK33_ENST00000534493.1_Silent_p.L239L			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ATGTGGCCTGCAGCATGGCTT	0.448																																					p.L280L													.	.			0			c.G840A												144.0	150.0	148.0					11																	8474400		2201	4296	6497	SO:0001819	synonymous_variant	65975	exon9			GGCCTGCAGCATG	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.840G>A	11.37:g.8474400C>T			Somatic	93	0	0		WXS	Illumina HiSeq	Phase_I	72	0.06	4	NM_030906	9	0.00	0	Q658S6|Q8NEF5	Silent	SNP	ENST00000447869.1	37	CCDS7789.1																																																																																					0.448	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276819.2		NM_030906	
PCNXL3	399909	mdanderson.org	37	11	65380520	65380520	+	5'Flank	SNP	G	G	A	rs144950486		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:65380520G>A	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Silent_p.P236P|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGTGGATGACGGGCACCAGGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17974	0.0		0.001	False		,,,				2504	0.0				p.P236P													.	.			0			c.C708T							G		0,4402		0,0,2201	84.0	76.0	79.0		708	-5.3	0.9	11	dbSNP_134	79	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	MAP3K11	NM_002419.3		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		236/848	65380520	1,12995	2201	4297	6498	SO:0001631	upstream_gene_variant	4296	exon1			GATGACGGGCACC	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380520G>A	Exception_encountered		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	47	0.06	3	NM_002419	84	0.00	0	Q6MZN8	Silent	SNP	ENST00000355703.3	37	CCDS44650.1																																																																																			0		0.627	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390321.1		NM_032223	
GPR152	390212	mdanderson.org	37	11	67219522	67219522	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:67219522C>T	ENST00000312457.2	-	1	678	c.674G>A	c.(673-675)cGc>cAc	p.R225H	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTGCTGTTGGCGGTGGCAGGT	0.677																																					p.R225H	Pancreas(102;800 1581 2723 7382 33622)												.	.			0			c.G674A												29.0	31.0	30.0					11																	67219522		2199	4290	6489	SO:0001583	missense	390212	exon1			TGTTGGCGGTGGC	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.674G>A	11.37:g.67219522C>T	ENSP00000310255:p.Arg225His		Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	33	0.09	3	NM_206997	0		0	Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	3.494	-0.103182	0.06967	.	.	ENSG00000175514	ENST00000312457	T	0.73047	-0.71	4.58	-2.21	0.06973	GPCR, rhodopsin-like superfamily (1);	0.603724	0.13674	N	0.370681	T	0.53546	0.1803	L	0.39898	1.24	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35724	-0.9777	10	0.31617	T	0.26	.	6.0474	0.19768	0.0:0.3564:0.1369:0.5068	.	225	Q8TDT2	GP152_HUMAN	H	225	ENSP00000310255:R225H	ENSP00000310255:R225H	R	-	2	0	GPR152	66976098	0.000000	0.05858	0.030000	0.17652	0.007000	0.05969	-0.119000	0.10676	-0.330000	0.08514	-0.254000	0.11334	CGC			0.677	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397623.1			
LRP5	4041	mdanderson.org	37	11	68192718	68192718	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:68192718G>T	ENST00000294304.7	+	15	3491	c.3385G>T	c.(3385-3387)Gtg>Ttg	p.V1129L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1129	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGTTCTGGGTGGACGCGGA	0.657																																					p.V1129L													.	.			0			c.G3385T												91.0	63.0	73.0					11																	68192718		2200	4294	6494	SO:0001583	missense	4041	exon15			TTCTGGGTGGACG	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3385G>T	11.37:g.68192718G>T	ENSP00000294304:p.Val1129Leu		Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	16	0.13	2	NM_002335	66	0.00	0	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987530	0.74589	.	.	ENSG00000162337	ENST00000294304	D	0.95482	-3.72	4.93	4.93	0.64822	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.43579	U	0.000545	D	0.95611	0.8573	M	0.70787	2.145	0.58432	D	0.999996	P;P	0.37207	0.587;0.587	B;B	0.42959	0.403;0.403	D	0.95350	0.8446	10	0.45353	T	0.12	.	18.3758	0.90435	0.0:0.0:1.0:0.0	.	1129;1129	Q9UES7;O75197	.;LRP5_HUMAN	L	1129	ENSP00000294304:V1129L	ENSP00000294304:V1129L	V	+	1	0	LRP5	67949294	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	5.944000	0.70219	2.580000	0.87095	0.485000	0.47835	GTG			0.657	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395088.1		NM_002335	
OAF	220323	bcgsc.ca	37	11	120082052	120082052	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:120082052C>A	ENST00000328965.4	+	1	578	c.65C>A	c.(64-66)cCg>cAg	p.P22Q	OAF_ENST00000531220.1_5'UTR	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	22						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ctgctcgcgccgctgctgGGA	0.801																																					p.P22Q													.	OAF	12		0			c.C65A												1.0	2.0	2.0					11																	120082052		985	2276	3261	SO:0001583	missense	220323	exon1			TCGCGCCGCTGCT	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.65C>A	11.37:g.120082052C>A	ENSP00000332613:p.Pro22Gln		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_1	20	0.20	4	NM_178507	3	0.00	0		Missense_Mutation	SNP	ENST00000328965.4	37	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	C	9.977	1.226980	0.22542	.	.	ENSG00000184232	ENST00000328965	T	0.29142	1.58	4.12	-1.55	0.08558	.	0.424586	0.20886	N	0.083913	T	0.13756	0.0333	N	0.19112	0.55	0.21697	N	0.999583	B	0.29671	0.254	B	0.26202	0.067	T	0.16335	-1.0406	10	0.27082	T	0.32	-6.7503	5.2199	0.15364	0.0:0.4681:0.2747:0.2571	.	22	Q86UD1	OAF_HUMAN	Q	22	ENSP00000332613:P22Q	ENSP00000332613:P22Q	P	+	2	0	OAF	119587262	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.687000	0.05156	-0.311000	0.08754	0.462000	0.41574	CCG			0.801	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388036.2		NM_178507	
VSIG2	23584	mdanderson.org	37	11	124619760	124619760	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr11:124619760G>T	ENST00000326621.5	-	4	530	c.430C>A	c.(430-432)Ccc>Acc	p.P144T	VSIG2_ENST00000403470.1_Missense_Mutation_p.P144T	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	144	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TTACTGGGGGGAACTGCaaaa	0.458																																					p.P144T													.	.			0			c.C430A												31.0	32.0	31.0					11																	124619760		2201	4299	6500	SO:0001583	missense	23584	exon4			TGGGGGGAACTGC	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.430C>A	11.37:g.124619760G>T	ENSP00000318684:p.Pro144Thr		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	29	0.07	2	NM_014312	84	0.00	0	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808374	0.70797	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.22539	1.95;1.95	5.18	5.18	0.71444	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.46521	0.1397	M	0.72479	2.2	0.45005	D	0.998025	D	0.89917	1.0	D	0.91635	0.999	T	0.41088	-0.9528	10	0.66056	D	0.02	.	15.7165	0.77672	0.0:0.0:1.0:0.0	.	144	Q96IQ7	VSIG2_HUMAN	T	144	ENSP00000318684:P144T;ENSP00000385013:P144T	ENSP00000318684:P144T	P	-	1	0	VSIG2	124124970	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	3.543000	0.53633	2.680000	0.91292	0.655000	0.94253	CCC			0.458	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317785.1		NM_014312	
VWF	7450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	6127718	6127718	+	Silent	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr12:6127718G>A	ENST00000261405.5	-	28	5120	c.4866C>T	c.(4864-4866)gaC>gaT	p.D1622D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1622	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCACCTGGATGTCTCCAGGCA	0.592																																					p.D1622D													.	.			0			c.C4866T												56.0	51.0	53.0					12																	6127718		2203	4300	6503	SO:0001819	synonymous_variant	7450	exon28			CTGGATGTCTCCA		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4866C>T	12.37:g.6127718G>A			Somatic	131	0	0		WXS	Illumina HiSeq	.	378	0.10	39	NM_000552	194	0.00	0	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																					0.592	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399020.1		NM_000552	
ATN1	1822	mdanderson.org	37	12	7045915	7045915	+	Silent	SNP	G	G	A	rs148885085	byFrequency	TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr12:7045915G>A	ENST00000356654.4	+	5	1722	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q	ATN1_ENST00000396684.2_Silent_p.Q495Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	495	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.642																																					p.Q495Q													ATN1,colon,carcinoma,0,1	ATN1	0	1	0			c.G1485A							G	,	2,4360		0,2,2179	40.0	52.0	48.0		1485,1485		0.5	12	dbSNP_134	48	9,8531		0,9,4261	no	coding-synonymous,coding-synonymous	ATN1	NM_001007026.1,NM_001940.3	,	0,11,6440	AA,AG,GG		0.1054,0.0459,0.0853	,	495/1191,495/1191	7045915	11,12891	2181	4270	6451	SO:0001819	synonymous_variant	1822	exon5			GCAGCAGCAGCAG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1485G>A	12.37:g.7045915G>A			Somatic	75	0.0133333333	1		WXS	Illumina HiSeq	Phase_I	180	0.03	6	NM_001007026	533	0.00	1	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			0		0.642	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000401948.2		NM_001940	
ZDHHC17	23390	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	77209655	77209655	+	Silent	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr12:77209655G>A	ENST00000426126.2	+	7	1276	c.627G>A	c.(625-627)ttG>ttA	p.L209L	ZDHHC17_ENST00000334822.5_Silent_p.L209L|ZDHHC17_ENST00000359019.4_Silent_p.L159L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	209					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CAACTAGATTGCTTTTAACAT	0.343																																					p.L209L													.	ZDHHC17	45		0			c.G627A												70.0	64.0	66.0					12																	77209655		1858	4091	5949	SO:0001819	synonymous_variant	23390	exon7			TAGATTGCTTTTA	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.627G>A	12.37:g.77209655G>A			Somatic	339	0.0029498525	1		WXS	Illumina HiSeq	Phase_I	333	0.28	93	NM_015336	2	0.50	1	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	CCDS44946.1																																																																																					0.343	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406555.1		NM_015336	
KL	9365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	33638015	33638015	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr13:33638015G>A	ENST00000380099.3	+	5	2739	c.2731G>A	c.(2731-2733)Gga>Aga	p.G911R	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	911	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|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)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CAATCTTTGCGGATACTTTGC	0.403																																					p.G911R													.	.			0			c.G2731A												172.0	179.0	177.0					13																	33638015		2203	4300	6503	SO:0001583	missense	9365	exon5			CTTTGCGGATACT	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2731G>A	13.37:g.33638015G>A	ENSP00000369442:p.Gly911Arg		Somatic	175	0	0		WXS	Illumina HiSeq	.	138	0.18	25	NM_004795	3	0.67	2	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760334	0.69763	.	.	ENSG00000133116	ENST00000380099	T	0.74737	-0.87	5.33	5.33	0.75918	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90800	0.7111	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93399	0.6758	10	0.87932	D	0	-16.9139	19.0196	0.92908	0.0:0.0:1.0:0.0	.	911	Q9UEF7	KLOT_HUMAN	R	911	ENSP00000369442:G911R	ENSP00000369442:G911R	G	+	1	0	KL	32536015	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	9.697000	0.98697	2.484000	0.83849	0.655000	0.94253	GGA			0.403	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045987.1			
UGGT2	55757	mdanderson.org	37	13	96530037	96530037	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr13:96530037G>T	ENST00000376747.3	-	28	3372	c.3302C>A	c.(3301-3303)aCa>aAa	p.T1101K		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1101					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AGGCTGTTCTGTCACTTTATC	0.383																																					p.T1101K													.	.			0			c.C3302A												156.0	149.0	151.0					13																	96530037		2203	4300	6503	SO:0001583	missense	55757	exon28			TGTTCTGTCACTT	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3302C>A	13.37:g.96530037G>T	ENSP00000365938:p.Thr1101Lys		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	36	0.08	3	NM_020121	11	0.00	0	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328972	0.60743	.	.	ENSG00000102595	ENST00000376747	T	0.31769	1.48	5.14	4.29	0.51040	.	0.055869	0.64402	D	0.000001	T	0.53578	0.1805	M	0.73319	2.225	0.80722	D	1	D;D	0.76494	0.999;0.98	D;P	0.77557	0.99;0.876	T	0.53989	-0.8360	10	0.39692	T	0.17	-7.185	15.0737	0.72059	0.0:0.0:0.8571:0.1429	.	1101;1101	Q9NV86;Q9NYU1	.;UGGG2_HUMAN	K	1101	ENSP00000365938:T1101K	ENSP00000365938:T1101K	T	-	2	0	UGGT2	95328038	1.000000	0.71417	0.117000	0.21633	0.341000	0.28922	8.962000	0.93254	1.145000	0.42336	0.467000	0.42956	ACA			0.383	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045507.1		NM_020121	
C14orf159	80017	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	91655323	91655323	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr14:91655323C>T	ENST00000523771.1	+	9	1592	c.989C>T	c.(988-990)gCc>gTc	p.A330V	C14orf159_ENST00000522322.1_Missense_Mutation_p.A330V|C14orf159_ENST00000520328.1_Missense_Mutation_p.A318V|C14orf159_ENST00000412671.2_Missense_Mutation_p.A335V|C14orf159_ENST00000518868.1_Missense_Mutation_p.A335V|C14orf159_ENST00000521077.2_Missense_Mutation_p.A335V|C14orf159_ENST00000525393.2_Missense_Mutation_p.A206V|C14orf159_ENST00000256324.10_Missense_Mutation_p.A335V|C14orf159_ENST00000523816.1_Missense_Mutation_p.A330V|C14orf159_ENST00000428926.2_Missense_Mutation_p.A330V			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	330						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CTGTCCCATGCCCGCTCAGTG	0.522																																					p.A335V													.	.			0			c.C1004T												58.0	50.0	53.0					14																	91655323		2203	4300	6503	SO:0001583	missense	80017	exon9			CCCATGCCCGCTC	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.989C>T	14.37:g.91655323C>T	ENSP00000429655:p.Ala330Val		Somatic	106	0	0		WXS	Illumina HiSeq	.	87	0.20	17	NM_001102368	84	0.20	17	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589090	0.46110	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	4.78	2.87	0.33458	.	0.264967	0.37530	N	0.002056	T	0.44850	0.1313	M	0.80508	2.5	0.09310	N	0.999998	P;D;D;P;P;P	0.76494	0.811;0.999;0.964;0.775;0.775;0.775	P;D;P;B;B;B	0.70935	0.572;0.971;0.767;0.436;0.436;0.436	T	0.34625	-0.9821	10	0.72032	D	0.01	.	11.1218	0.48296	0.145:0.7154:0.1395:0.0	.	330;206;335;318;335;335	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.;.	V	318;335;335;335;330;335;206;330;330;330;335	ENSP00000429453:A318V;ENSP00000256324:A335V;ENSP00000430137:A335V;ENSP00000428263:A335V;ENSP00000428974:A330V;ENSP00000428652:A335V;ENSP00000435459:A206V;ENSP00000404343:A330V;ENSP00000427953:A330V;ENSP00000429655:A330V;ENSP00000404196:A335V	ENSP00000256324:A335V	A	+	2	0	C14orf159	90725076	0.543000	0.26434	0.005000	0.12908	0.097000	0.18754	2.809000	0.47971	0.378000	0.24764	0.655000	0.94253	GCC			0.522	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381273.1		NM_024952	
BDKRB2	624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	96707057	96707057	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr14:96707057G>A	ENST00000306005.3	+	3	588	c.392G>A	c.(391-393)cGc>cAc	p.R131H	BDKRB2_ENST00000554311.1_Missense_Mutation_p.R131H|BDKRB2_ENST00000542454.2_Missense_Mutation_p.R104H|BDKRB2_ENST00000539359.1_Missense_Mutation_p.R104H|RP11-404P21.8_ENST00000553811.1_Intron	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	131					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	ACGCTCTGCCGCGTGGTGAAT	0.582																																					p.R131H													BDKRB2,NS,carcinoma,0,1	BDKRB2	0	1	0			c.G392A												150.0	153.0	152.0					14																	96707057		2203	4300	6503	SO:0001583	missense	624	exon3			TCTGCCGCGTGGT	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.392G>A	14.37:g.96707057G>A	ENSP00000307713:p.Arg131His		Somatic	42	0	0		WXS	Illumina HiSeq	.	46	0.20	9	NM_000623	2	1.00	2		Missense_Mutation	SNP	ENST00000306005.3	37	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084490	0.55861	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	4.68	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.306399	0.29594	N	0.011707	T	0.78773	0.4336	M	0.74546	2.27	0.30931	N	0.726901	D	0.89917	1.0	D	0.71414	0.973	T	0.77297	-0.2640	10	0.87932	D	0	-36.4159	4.274	0.10800	0.175:0.0:0.607:0.218	.	131	P30411	BKRB2_HUMAN	H	104;131;131;104	ENSP00000439459:R104H;ENSP00000450482:R131H;ENSP00000307713:R131H;ENSP00000438376:R104H	ENSP00000307713:R131H	R	+	2	0	BDKRB2	95776810	0.984000	0.35163	1.000000	0.80357	0.624000	0.37722	2.326000	0.43849	2.317000	0.78254	0.561000	0.74099	CGC			0.582	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413294.1			
LIPC	3990	mdanderson.org	37	15	58834136	58834136	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr15:58834136G>T	ENST00000356113.6	+	5	1041	c.426G>T	c.(424-426)aaG>aaT	p.K142N	LIPC_ENST00000414170.3_Missense_Mutation_p.K142N|LIPC_ENST00000433326.2_Intron|LIPC_ENST00000299022.5_Missense_Mutation_p.K142N			P11150	LIPC_HUMAN	lipase, hepatic	142					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TTGTGGGCAAGGAGGTCGCGG	0.627																																					p.K142N													.	.			0			c.G426T												53.0	40.0	44.0					15																	58834136		2191	4292	6483	SO:0001583	missense	3990	exon3			GGGCAAGGAGGTC		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.426G>T	15.37:g.58834136G>T	ENSP00000348425:p.Lys142Asn		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	30	0.10	3	NM_000236	4	0.00	0	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012974	0.35511	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022	D;D;D	0.91124	-2.79;-2.79;-2.79	4.53	2.56	0.30785	Lipase, N-terminal (1);	0.200751	0.44483	D	0.000460	D	0.84243	0.5429	L	0.37561	1.115	0.80722	D	1	P	0.37594	0.601	B	0.40506	0.331	T	0.79257	-0.1878	10	0.35671	T	0.21	.	6.2387	0.20778	0.22:0.1409:0.6391:0.0	.	142	P11150	LIPC_HUMAN	N	142	ENSP00000348425:K142N;ENSP00000395569:K142N;ENSP00000299022:K142N	ENSP00000299022:K142N	K	+	3	2	LIPC	56621428	0.006000	0.16342	1.000000	0.80357	0.705000	0.40729	0.183000	0.16919	1.092000	0.41356	0.407000	0.27541	AAG			0.627	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416209.1			
HERC1	8925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	63935695	63935695	+	Missense_Mutation	SNP	T	T	C	rs375304469		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr15:63935695T>C	ENST00000443617.2	-	58	11326	c.11239A>G	c.(11239-11241)Atc>Gtc	p.I3747V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3747					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACAGGAGTGATGTGTCCCCGC	0.418																																					p.I3747V													.	.			0			c.A11239G							T	VAL/ILE	1,3881		0,1,1940	63.0	63.0	63.0		11239	5.3	1.0	15		63	0,8272		0,0,4136	no	missense	HERC1	NM_003922.3	29	0,1,6076	CC,CT,TT		0.0,0.0258,0.0082	benign	3747/4862	63935695	1,12153	1941	4136	6077	SO:0001583	missense	8925	exon58			GAGTGATGTGTCC	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11239A>G	15.37:g.63935695T>C	ENSP00000390158:p.Ile3747Val		Somatic	358	0	0		WXS	Illumina HiSeq	.	295	0.31	92	NM_003922	10	0.40	4	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.538670	0.65085	2.58E-4	0.0	ENSG00000103657	ENST00000443617	T	0.59906	0.23	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000001	T	0.42245	0.1194	N	0.10837	0.055	0.52099	D	0.999946	B	0.22541	0.071	B	0.28638	0.092	T	0.34850	-0.9812	10	0.41790	T	0.15	.	15.4671	0.75409	0.0:0.0:0.0:1.0	.	3747	Q15751	HERC1_HUMAN	V	3747	ENSP00000390158:I3747V	ENSP00000390158:I3747V	I	-	1	0	HERC1	61722748	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.114000	0.64651	0.460000	0.39030	ATC			0.418	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418523.1		NM_003922	
TBL3	10607	broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	2024635	2024635	+	Missense_Mutation	SNP	G	G	T	rs138822494	byFrequency	TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr16:2024635G>T	ENST00000568546.1	+	5	462	c.334G>T	c.(334-336)Gtg>Ttg	p.V112L		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	112					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CACGGCCCCCGTGGCCACCAT	0.667																																					p.V112L	Melanoma(118;616 1651 35077 38081 48633)												.	TBL3	54		0			c.G334T												29.0	32.0	31.0					16																	2024635		2198	4297	6495	SO:0001583	missense	10607	exon5			GCCCCCGTGGCCA	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.334G>T	16.37:g.2024635G>T	ENSP00000454836:p.Val112Leu		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	74	0.07	5	NM_006453	62	0.00	0	Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113732	0.94339	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.83497	0.0073	9	0.72032	D	0.01	-20.8972	17.2223	0.86961	0.0:0.0:1.0:0.0	.	112	Q12788	TBL3_HUMAN	L	112	.	ENSP00000331815:V112L	V	+	1	0	TBL3	1964636	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.185000	0.72013	2.301000	0.77427	0.561000	0.74099	GTG			0.667	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250615.3		NM_006453	
BCL7C	9274	mdanderson.org	37	16	30905198	30905198	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr16:30905198G>A	ENST00000215115.4	-	1	1083	c.68C>T	c.(67-69)gCg>gTg	p.A23V	CTF1_ENST00000395019.3_5'Flank|MIR762_ENST00000390236.1_RNA|MIR4519_ENST00000565573.1_RNA|MIR4519_ENST00000570025.1_RNA|CTF1_ENST00000279804.2_5'Flank|MIR4519_ENST00000564901.1_RNA|AC106782.20_ENST00000572471.1_RNA|BCL7C_ENST00000380317.4_Missense_Mutation_p.A23V	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	23					apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			CTCGATGGTCGCCATCACCTT	0.711																																					p.A23V													.	.			0			c.C68T												55.0	45.0	48.0					16																	30905198		2197	4300	6497	SO:0001583	missense	9274	exon1			ATGGTCGCCATCA	AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000215115.4:c.68C>T	16.37:g.30905198G>A	ENSP00000215115:p.Ala23Val		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	40	0.08	3	NM_004765	297	0.00	1	O43770|Q6PD89	Missense_Mutation	SNP	ENST00000215115.4	37	CCDS10693.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288887	0.80914	.	.	ENSG00000099385	ENST00000380317;ENST00000215115	T;T	0.50548	0.74;0.75	5.08	4.12	0.48240	.	0.107347	0.38605	N	0.001634	T	0.38188	0.1031	L	0.36672	1.1	0.52099	D	0.999947	B;B	0.23990	0.095;0.078	B;B	0.20577	0.03;0.017	T	0.23619	-1.0183	10	0.52906	T	0.07	-12.5734	12.6102	0.56546	0.0829:0.0:0.9171:0.0	.	23;23	Q8WUZ0;Q8WUZ0-2	BCL7C_HUMAN;.	V	23	ENSP00000369674:A23V;ENSP00000215115:A23V	ENSP00000215115:A23V	A	-	2	0	BCL7C	30812699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.894000	0.92506	1.148000	0.42385	0.478000	0.44815	GCG			0.711	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255547.3		NM_004765	
IRX6	79190	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	55363165	55363165	+	Silent	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr16:55363165G>T	ENST00000290552.7	+	5	2607	c.1275G>T	c.(1273-1275)gcG>gcT	p.A425A	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	425					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TGAACTGTGCGCCGTGCCCGC	0.612																																					p.A425A													.	.			0			c.G1275T												42.0	49.0	47.0					16																	55363165		2198	4300	6498	SO:0001819	synonymous_variant	79190	exon5			CTGTGCGCCGTGC	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1275G>T	16.37:g.55363165G>T			Somatic	60	0	0		WXS	Illumina HiSeq	.	65	0.23	15	NM_024335	9	0.22	2	B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	CCDS32449.1																																																																																					0.612	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000417445.4		NM_024335	
MTSS1L	92154	mdanderson.org	37	16	70698197	70698197	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr16:70698197G>A	ENST00000338779.6	-	15	1901	c.1627C>T	c.(1627-1629)Ccc>Tcc	p.P543S	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	543					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CCCGCGGTGGGCAGCCCAGCA	0.711																																					p.P543S													.	.			0			c.C1627T												22.0	24.0	24.0					16																	70698197		2190	4280	6470	SO:0001583	missense	92154	exon15			CGGTGGGCAGCCC		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1627C>T	16.37:g.70698197G>A	ENSP00000341171:p.Pro543Ser		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	14	0.14	2	NM_138383	31	0.00	0	A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219350	0.58560	.	.	ENSG00000132613	ENST00000338779	T	0.37584	1.19	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	M	0.66939	2.045	0.42075	D	0.991223	D	0.89917	1.0	D	0.85130	0.997	T	0.59757	-0.7394	10	0.39692	T	0.17	-25.5832	15.8708	0.79117	0.0:0.0:1.0:0.0	.	543	Q765P7	MTSSL_HUMAN	S	543	ENSP00000341171:P543S	ENSP00000341171:P543S	P	-	1	0	MTSS1L	69255698	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	9.154000	0.94694	1.790000	0.52503	0.462000	0.41574	CCC			0.711	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434927.3		NM_138383	
ANKRD11	29123	mdanderson.org	37	16	89346584	89346584	+	Missense_Mutation	SNP	G	G	T	rs202049186		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr16:89346584G>T	ENST00000301030.4	-	9	6826	c.6366C>A	c.(6364-6366)gaC>gaA	p.D2122E	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D2122E	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2122	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGCGAAGGCGTCCGCCCAGG	0.692																																					p.D2122E													.	.			0			c.C6366A												7.0	9.0	8.0					16																	89346584		2128	4170	6298	SO:0001583	missense	29123	exon9			GAAGGCGTCCGCC	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6366C>A	16.37:g.89346584G>T	ENSP00000301030:p.Asp2122Glu		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	22	0.09	2	NM_013275	44	0.00	0	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	7.320	0.616725	0.14129	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.52057	0.68;0.68	5.44	-7.55	0.01327	.	0.146689	0.42294	N	0.000732	T	0.21227	0.0511	N	0.19112	0.55	0.80722	D	1	B	0.30033	0.266	B	0.26416	0.069	T	0.03000	-1.1084	10	0.39692	T	0.17	.	6.559	0.22476	0.2883:0.1003:0.5131:0.0983	.	2122	Q6UB99	ANR11_HUMAN	E	2122	ENSP00000301030:D2122E;ENSP00000367581:D2122E	ENSP00000301030:D2122E	D	-	3	2	ANKRD11	87874085	0.033000	0.19621	0.002000	0.10522	0.165000	0.22458	-0.576000	0.05854	-1.819000	0.01216	-0.524000	0.04348	GAC			0.692	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000430462.3		NM_013275	
MYBBP1A	10514	broad.mit.edu	37	17	4458537	4458537	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:4458537A>G	ENST00000254718.4	-	1	389	c.83T>C	c.(82-84)cTa>cCa	p.L28P	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L28P			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	28	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GTGCTTCAATAGGCCATAGCG	0.632																																					p.L28P													.	MYBBP1A	69		0			c.T83C												24.0	25.0	24.0					17																	4458537		2201	4299	6500	SO:0001583	missense	10514	exon1			TTCAATAGGCCAT	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.83T>C	17.37:g.4458537A>G	ENSP00000254718:p.Leu28Pro		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	115	0.03	3	NM_014520	20	0.00	0	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317450	0.60524	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.20881	2.04;2.04	4.94	4.94	0.65067	.	0.274555	0.31177	N	0.008113	T	0.29914	0.0748	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	P;D	0.67548	0.896;0.952	T	0.02603	-1.1135	10	0.27785	T	0.31	-18.9917	13.5475	0.61713	1.0:0.0:0.0:0.0	.	28;28	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	P	28	ENSP00000370968:L28P;ENSP00000254718:L28P	ENSP00000254718:L28P	L	-	2	0	MYBBP1A	4405286	0.818000	0.29161	0.249000	0.24280	0.005000	0.04900	4.421000	0.59848	2.076000	0.62316	0.482000	0.46254	CTA			0.632	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000207488.2		NM_014520	
CAMTA2	23125	mdanderson.org	37	17	4873732	4873732	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:4873732G>A	ENST00000348066.3	-	17	3031	c.2908C>T	c.(2908-2910)Cgg>Tgg	p.R970W	SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R970W|CAMTA2_ENST00000572543.1_Missense_Mutation_p.R975W|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R972W|CAMTA2_ENST00000414043.3_Missense_Mutation_p.R993W|SPAG7_ENST00000206020.3_5'Flank|SPAG7_ENST00000575142.1_5'Flank|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Missense_Mutation_p.R969W|RP5-1050D4.3_ENST00000576752.1_RNA	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	970					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTCCGCTCCCGCATTGAGGCT	0.612																																					p.R993W													.	.			0			c.C2977T												92.0	88.0	89.0					17																	4873732		2203	4300	6503	SO:0001583	missense	23125	exon17			GCTCCCGCATTGA	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2908C>T	17.37:g.4873732G>A	ENSP00000321813:p.Arg970Trp		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	70	0.06	4	NM_001171167	74	0.00	0	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617537	0.66787	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.34072	2.58;1.62;1.38;1.62;1.39	5.14	3.06	0.35304	.	0.281347	0.28414	N	0.015429	T	0.46946	0.1419	L	0.43152	1.355	0.28300	N	0.923171	D;D;D;D;D	0.89917	0.999;0.999;0.998;0.997;1.0	P;P;P;P;D	0.79108	0.549;0.642;0.742;0.556;0.992	T	0.32903	-0.9889	10	0.66056	D	0.02	-13.6934	8.0112	0.30355	0.0:0.1455:0.4767:0.3779	.	946;993;972;970;969	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	W	993;972;969;970;970	ENSP00000412886:R993W;ENSP00000370712:R972W;ENSP00000354828:R969W;ENSP00000350910:R970W;ENSP00000321813:R970W	ENSP00000321813:R970W	R	-	1	2	CAMTA2	4814456	0.000000	0.05858	0.843000	0.33291	0.964000	0.63967	-0.958000	0.03857	0.636000	0.30508	0.655000	0.94253	CGG			0.612	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000216876.1		NM_015099	
NLGN2	57555	mdanderson.org	37	17	7311738	7311738	+	Missense_Mutation	SNP	G	G	T	rs377690737		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:7311738G>T	ENST00000302926.2	+	1	237	c.164G>T	c.(163-165)cGg>cTg	p.R55L	NLGN2_ENST00000575301.1_Missense_Mutation_p.R55L|NLGN2_ENST00000572893.1_Intron	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	55					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CGCGGTGTGCGGCGCGAGCTC	0.771													N|||	1	0.000199681	0.0	0.0	5008	,	,		5594	0.0		0.0	False		,,,				2504	0.001				p.R55L													NLGN2,NS,lymphoid_neoplasm,+1,1	NLGN2	1	1	0			c.G164T								LEU/ARG	0,3986		0,0,1993	8.0	7.0	7.0		164	3.3	1.0	17		7	1,7915		0,1,3957	no	missense	NLGN2	NM_020795.2	102	0,1,5950	TT,TG,GG		0.0126,0.0,0.0084	benign	55/836	7311738	1,11901	1993	3958	5951	SO:0001583	missense	57555	exon1			GTGTGCGGCGCGA	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.164G>T	17.37:g.7311738G>T	ENSP00000305288:p.Arg55Leu		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	27	0.11	3	NM_020795	1	0.00	0	Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	g	16.35	3.097581	0.56075	0.0	1.26E-4	ENSG00000169992	ENST00000302926	T	0.68624	-0.34	3.34	3.34	0.38264	Carboxylesterase, type B (1);	0.075776	0.48767	D	0.000162	T	0.53206	0.1782	L	0.35593	1.075	0.36478	D	0.867654	B	0.21452	0.056	B	0.16722	0.016	T	0.57929	-0.7726	10	0.30854	T	0.27	.	13.0103	0.58727	0.0:0.0:1.0:0.0	.	55	Q8NFZ4	NLGN2_HUMAN	L	55	ENSP00000305288:R55L	ENSP00000305288:R55L	R	+	2	0	NLGN2	7252462	0.003000	0.15002	1.000000	0.80357	0.995000	0.86356	0.738000	0.26158	2.198000	0.70561	0.436000	0.28706	CGG			0.771	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000226941.2		NM_020795	
TVP23C	201158	ucsc.edu	37	17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274.0	265.0	268.0					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		Somatic	221	0.0407239819	9		RNA-Seq	Illumina HiSeq		177	0.06	10	NM_145301	21	0.33	7	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301	
MAPK7	5598	broad.mit.edu	37	17	19285118	19285118	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:19285118C>A	ENST00000308406.5	+	5	1888	c.1502C>A	c.(1501-1503)gCt>gAt	p.A501D	MAPK7_ENST00000395604.3_Missense_Mutation_p.A501D|MAPK7_ENST00000299612.7_Missense_Mutation_p.A362D|MAPK7_ENST00000395602.4_Missense_Mutation_p.A501D|MAPK7_ENST00000571657.1_Intron|MFAP4_ENST00000574313.2_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	501	May not be required for kinase activity; required to stimulate MEF2C activity. {ECO:0000250}.|Pro-rich.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)	p.A501D(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCCCTGGAGGCTCCTGAGCCT	0.672																																					p.A501D													MAPK7,NS,carcinoma,0,2	MAPK7	72	2	1	Substitution - Missense(1)	endometrium(1)	c.C1502A												10.0	17.0	15.0					17																	19285118		2162	4232	6394	SO:0001583	missense	5598	exon5			TGGAGGCTCCTGA	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.1502C>A	17.37:g.19285118C>A	ENSP00000311005:p.Ala501Asp		Somatic	48	0.0208333333	1		WXS	Illumina HiSeq	Phase_I	62	0.10	6	NM_002749	76	0.05	4	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248312	0.59103	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.74209	-0.57;-0.82;-0.57;-0.57	4.36	3.39	0.38822	.	0.278335	0.34291	N	0.004097	T	0.62792	0.2457	N	0.22421	0.69	0.33339	D	0.569546	P	0.50943	0.94	P	0.47299	0.543	T	0.71846	-0.4469	10	0.87932	D	0	-7.5638	6.6062	0.22726	0.0:0.7883:0.0:0.2117	.	501	Q13164	MK07_HUMAN	D	501;362;501;501	ENSP00000311005:A501D;ENSP00000299612:A362D;ENSP00000378968:A501D;ENSP00000378966:A501D	ENSP00000299612:A362D	A	+	2	0	MAPK7	19225711	0.988000	0.35896	0.980000	0.43619	0.970000	0.65996	1.704000	0.37857	1.055000	0.40461	0.561000	0.74099	GCT			0.672	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000132506.1		NM_139033	
FLJ36000	284124	hgsc.bcm.edu	37	17	21906338	21906338	+	lincRNA	SNP	G	G	C			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:21906338G>C	ENST00000581223.2	+	0	0					NR_027084.1																						tgcttcccacggttgtcttag	0.692																																					.													.	.			0			.																																											0	.			TCCCACGGTTGTC																													17.37:g.21906338G>C			Somatic	49	0	0		WXS	Illumina HiSeq	.	57	0.07	4	.	0		0		RNA	SNP	ENST00000581223.2	37																																																																																						0.692	RP11-744K17.9-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000451067.1			
CRLF3	51379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	29123252	29123252	+	Missense_Mutation	SNP	C	C	T	rs368117589		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:29123252C>T	ENST00000324238.6	-	4	653	c.529G>A	c.(529-531)Gta>Ata	p.V177I	CRLF3_ENST00000544695.1_Missense_Mutation_p.V61I|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	177					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CGAGATGCTACTGTTCCATGC	0.393																																					p.V177I	Pancreas(30;346 881 29244 33464 41299)												.	.			0			c.G529A												129.0	109.0	116.0					17																	29123252		2203	4300	6503	SO:0001583	missense	51379	exon4			ATGCTACTGTTCC	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.529G>A	17.37:g.29123252C>T	ENSP00000318804:p.Val177Ile		Somatic	100	0	0		WXS	Illumina HiSeq	.	94	0.23	22	NM_015986	14	0.21	3	A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148303	0.94603	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.31510	1.49;1.49	5.24	5.24	0.73138	Fibronectin, type III (1);	0.056575	0.64402	D	0.000001	T	0.55909	0.1950	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51108	-0.8747	10	0.30854	T	0.27	-19.2649	18.8146	0.92072	0.0:1.0:0.0:0.0	.	177	Q8IUI8	CRLF3_HUMAN	I	177;61	ENSP00000318804:V177I;ENSP00000444188:V61I	ENSP00000318804:V177I	V	-	1	0	CRLF3	26147378	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.059000	0.76684	2.457000	0.83068	0.313000	0.20887	GTA			0.393	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444354.1			
ATAD5	79915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	29162850	29162850	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:29162850G>T	ENST00000321990.4	+	2	2129	c.1751G>T	c.(1750-1752)aGc>aTc	p.S584I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	584					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTGAAGCCAGCTTGCTAAAT	0.378																																					p.S584I													.	.			0			c.G1751T												75.0	71.0	73.0					17																	29162850		2203	4300	6503	SO:0001583	missense	79915	exon2			AAGCCAGCTTGCT		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1751G>T	17.37:g.29162850G>T	ENSP00000313171:p.Ser584Ile		Somatic	119	0	0		WXS	Illumina HiSeq	.	112	0.14	16	NM_024857	2	0.00	0	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	0.211	-1.036830	0.02013	.	.	ENSG00000176208	ENST00000321990	T	0.09445	2.98	5.31	2.23	0.28157	.	1.314060	0.04639	N	0.405095	T	0.21590	0.0520	M	0.64997	1.995	0.09310	N	1	P;D	0.54397	0.731;0.966	P;P	0.50440	0.549;0.641	T	0.18745	-1.0327	10	0.66056	D	0.02	.	8.4456	0.32841	0.2488:0.0:0.7512:0.0	.	584;584	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	I	584	ENSP00000313171:S584I	ENSP00000313171:S584I	S	+	2	0	ATAD5	26186976	0.121000	0.22262	0.014000	0.15608	0.041000	0.13682	0.373000	0.20484	0.319000	0.23209	0.655000	0.94253	AGC			0.378	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256206.2		NM_024857	
RP11-640N20.6	0	broad.mit.edu	37	17	30419203	30419204	+	RNA	DEL	CA	CA	-			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:30419203_30419204delCA	ENST00000358484.4	+	0	144				RP11-640N20.8_ENST00000581225.1_RNA																							cacttgcaagcacacacacaca	0.515																																					.													.	.			0			.																																											0	.			TGCAAGCACACAC																													17.37:g.30419213_30419214delCA			Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	0		0		RNA	DEL	ENST00000358484.4	37																																																																																						0.515	RP11-640N20.6-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000447090.1			
GNA13	10672	mdanderson.org	37	17	63052637	63052637	+	Silent	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:63052637G>T	ENST00000439174.2	-	1	320	c.75C>A	c.(73-75)gcC>gcA	p.A25A	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	25					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTTGCTGCTCGGCCTCGCCAC	0.667																																					p.A25A													.	.			0			c.C75A												105.0	99.0	101.0					17																	63052637		2203	4300	6503	SO:0001819	synonymous_variant	10672	exon1			CTGCTCGGCCTCG	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.75C>A	17.37:g.63052637G>T			Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_006572	17	0.00	0	B2R977|B7Z7R0|F5H1G8|Q8TD70	Silent	SNP	ENST00000439174.2	37	CCDS11661.1																																																																																					0.667	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445720.1		NM_006572	
OTOP3	347741	bcgsc.ca	37	17	72931942	72931942	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr17:72931942A>G	ENST00000328801.4	+	1	46	c.46A>G	c.(46-48)Agg>Ggg	p.R16G		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	16						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CCGCTGGGGGAGGGCGTCGCG	0.647																																					p.R16G													.	OTOP3	64		0			c.A46G												7.0	10.0	9.0					17																	72931942		1527	2715	4242	SO:0001583	missense	347741	exon1			TGGGGGAGGGCGT	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.46A>G	17.37:g.72931942A>G	ENSP00000328090:p.Arg16Gly		Somatic	31	0	0		WXS	Illumina HiSeq	Phase_1	35	0.11	4	NM_178233	0		0		Missense_Mutation	SNP	ENST00000328801.4	37	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.490247	0.44249	.	.	ENSG00000182938	ENST00000328801	T	0.09445	2.98	3.7	2.62	0.31277	.	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	0.25132	N	0.990563	B	0.02656	0.0	B	0.04013	0.001	T	0.35400	-0.9790	9	0.54805	T	0.06	.	5.6163	0.17434	0.8707:0.0:0.1293:0.0	.	16	Q7RTS5	OTOP3_HUMAN	G	16	ENSP00000328090:R16G	ENSP00000328090:R16G	R	+	1	2	OTOP3	70443537	0.992000	0.36948	0.879000	0.34478	0.832000	0.47134	1.732000	0.38146	0.493000	0.27837	0.379000	0.24179	AGG			0.647	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445308.1		NM_178233	
ZSWIM4	65249	mdanderson.org	37	19	13915706	13915706	+	Silent	SNP	C	C	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr19:13915706C>A	ENST00000254323.2	+	3	645	c.456C>A	c.(454-456)tcC>tcA	p.S152S	ZSWIM4_ENST00000440752.2_5'Flank	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	152							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGATCACGTCCGTGAGCTGCG	0.632											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S152S													.	.			0			c.C456A												76.0	76.0	76.0					19																	13915706		2203	4300	6503	SO:0001819	synonymous_variant	65249	exon3			CACGTCCGTGAGC	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.456C>A	19.37:g.13915706C>A			Somatic	70	0	0	691	WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_023072	5	0.00	0		Silent	SNP	ENST00000254323.2	37	CCDS32924.1																																																																																					0.632	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457457.1		XM_031342	
ATP1A3	478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	42474678	42474678	+	Silent	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr19:42474678G>A	ENST00000302102.5	-	17	2430	c.2280C>T	c.(2278-2280)gaC>gaT	p.D760D	ATP1A3_ENST00000543770.1_Silent_p.D771D|ATP1A3_ENST00000602133.1_Silent_p.D730D|ATP1A3_ENST00000545399.1_Silent_p.D773D	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	760					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCTTTAGGTTGTCGAAGATCA	0.622																																					p.D773D													.	.			0			c.C2319T												132.0	118.0	123.0					19																	42474678		2203	4300	6503	SO:0001819	synonymous_variant	478	exon17			TAGGTTGTCGAAG		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2280C>T	19.37:g.42474678G>A			Somatic	104	0	0		WXS	Illumina HiSeq	.	91	0.32	29	NM_001256214	0		0	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	CCDS12594.1																																																																																					0.622	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000268107.1		NM_152296	
ZNF574	64763	bcgsc.ca	37	19	42584137	42584155	+	Frame_Shift_Del	DEL	CCGCTGCCCCAGGCACCTA	CCGCTGCCCCAGGCACCTA	-	rs116193035	byFrequency	TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	CCGCTGCCCCAGGCACCTA	CCGCTGCCCCAGGCACCTA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr19:42584137_42584155delCCGCTGCCCCAGGCACCTA	ENST00000600245.1	+	2	2034_2052	c.1379_1397delCCGCTGCCCCAGGCACCTA	c.(1378-1398)cccgctgccccaggcacctacfs	p.PAAPGTY460fs	ZNF574_ENST00000222339.7_Frame_Shift_Del_p.PAAPGTY550fs|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Frame_Shift_Del_p.PAAPGTY460fs			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TCAGCAGGGCCCGCTGCCCCAGGCACCTACCGCTGCCTC	0.626																																					p.460_466del													.	ZNF574	57		0			c.1379_1397del																																									SO:0001589	frameshift_variant	64763	exon2			CAGGGCCCGCTGC	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1379_1397delCCGCTGCCCCAGGCACCTA	19.37:g.42584137_42584155delCCGCTGCCCCAGGCACCTA	ENSP00000469029:p.Pro460fs		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_1	55	0.09	5	NM_022752	23	0.00	0	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Frame_Shift_Del	DEL	ENST00000600245.1	37	CCDS12596.1																																																																																					0.626	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463458.1		NM_022752	
MZF1	7593	mdanderson.org	37	19	59074032	59074032	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr19:59074032C>T	ENST00000215057.2	-	6	2172	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E538K|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	538					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AAGGGCCGCTCGCCACTGTGC	0.721																																					p.E538K													.	.			0			c.G1612A												4.0	4.0	4.0					19																	59074032		1904	3782	5686	SO:0001583	missense	7593	exon6			GCCGCTCGCCACT	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1612G>A	19.37:g.59074032C>T	ENSP00000215057:p.Glu538Lys		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	10	0.20	2	NM_003422	13	0.00	0	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	19.06	3.753776	0.69648	.	.	ENSG00000099326	ENST00000215057	T	0.24350	1.86	3.57	3.57	0.40892	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38164	N	0.001785	T	0.42154	0.1190	M	0.75615	2.305	0.40282	D	0.978408	D	0.63880	0.993	P	0.54346	0.749	T	0.51803	-0.8659	10	0.87932	D	0	-10.6344	13.4588	0.61214	0.0:1.0:0.0:0.0	.	538	P28698	MZF1_HUMAN	K	538	ENSP00000215057:E538K	ENSP00000215057:E538K	E	-	1	0	MZF1	63765844	0.207000	0.23482	0.962000	0.40283	0.856000	0.48823	2.844000	0.48246	2.281000	0.76405	0.462000	0.41574	GAG			0.721	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467112.1		NM_198055	
DNAJC27	51277	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	25174379	25174379	+	Silent	SNP	T	T	C			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr2:25174379T>C	ENST00000264711.2	-	6	762	c.573A>G	c.(571-573)aaA>aaG	p.K191K	DNAJC27_ENST00000534855.1_Silent_p.K120K	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	191					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGGTAGGGCGTTTCCCGCCAT	0.398																																					p.K191K													.	.			0			c.A573G												90.0	88.0	89.0					2																	25174379		2203	4300	6503	SO:0001819	synonymous_variant	51277	exon6			AGGGCGTTTCCCG		CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.573A>G	2.37:g.25174379T>C			Somatic	95	0	0		WXS	Illumina HiSeq	.	81	0.19	15	NM_016544	3	0.33	1	Q5JV88|Q86Y24	Silent	SNP	ENST00000264711.2	37	CCDS1716.1																																																																																					0.398	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000246855.3		NM_016544	
XDH	7498	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	31620583	31620583	+	Missense_Mutation	SNP	C	C	T	rs148108999		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr2:31620583C>T	ENST00000379416.3	-	6	494	c.446G>A	c.(445-447)cGc>cAc	p.R149H		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	149			R -> C (in XU1). {ECO:0000269|PubMed:11379872}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GCCTGTGCAGCGGCACAGATT	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		19839	0.0		0.001	False		,,,				2504	0.0				p.R149H	Colon(66;682 1445 30109 40147)												.	.			0			c.G446A							C	HIS/ARG	0,4406		0,0,2203	103.0	108.0	106.0		446	6.1	1.0	2	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	XDH	NM_000379.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	149/1334	31620583	1,13005	2203	4300	6503	SO:0001583	missense	7498	exon6			GTGCAGCGGCACA	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.446G>A	2.37:g.31620583C>T	ENSP00000368727:p.Arg149His		Somatic	100	0	0		WXS	Illumina HiSeq	.	88	0.14	12	NM_000379	1	1.00	1	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	35	5.454596	0.96223	0.0	1.16E-4	ENSG00000158125	ENST00000379416	D	0.83755	-1.76	6.07	6.07	0.98685	[2Fe-2S]-binding (3);Xanthine dehydrogenase, small subunit (1);	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	H	0.99712	4.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97328	0.9948	10	0.72032	D	0.01	.	19.4154	0.94694	0.0:1.0:0.0:0.0	.	149	P47989	XDH_HUMAN	H	149	ENSP00000368727:R149H	ENSP00000368727:R149H	R	-	2	0	XDH	31474087	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.175000	0.77632	2.884000	0.98904	0.655000	0.94253	CGC	0		0.542	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216840.1		NM_000379	
ZNF638	27332	hgsc.bcm.edu;bcgsc.ca	37	2	71607352	71607355	+	Splice_Site	DEL	AACA	AACA	-			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	AACA	AACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr2:71607352_71607355delAACA	ENST00000409544.1	+	9	2896_2899	c.2266_2269delAACA	c.(2266-2271)aacaaa>aa	p.NK756fs	ZNF638_ENST00000377802.2_Splice_Site_p.NK756fs|ZNF638_ENST00000264447.4_Splice_Site_p.NK756fs|RNU6-105P_ENST00000363909.1_RNA|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Splice_Site_p.NK756fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	756					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCCTACGTAGAACAAAGAGGTGAA	0.275																																					p.756_756del													.	ZNF638	179		0			c.2266_2268del																																									SO:0001630	splice_region_variant	27332	exon9			ACGTAGAACAAAG	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2266-1AACA>-	2.37:g.71607352_71607355delAACA			Somatic	298	0	0		WXS	Illumina HiSeq	.	266	0.25	66	NM_001252612	6	0.00	0	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	In_Frame_Del	DEL	ENST00000409544.1	37	CCDS1917.1																																																																																					0.275	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000327431.1		NM_014497	Frame_Shift_Del
LRP2	4036	broad.mit.edu	37	2	170038126	170038126	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr2:170038126T>C	ENST00000263816.3	-	52	10286	c.10001A>G	c.(10000-10002)tAc>tGc	p.Y3334C	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3334					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCAGTAGAGGTACCTGTCAGG	0.483																																					p.Y3334C													.	LRP2	751		0			c.A10001G												96.0	83.0	88.0					2																	170038126		2203	4300	6503	SO:0001583	missense	4036	exon52			TAGAGGTACCTGT		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10001A>G	2.37:g.170038126T>C	ENSP00000263816:p.Tyr3334Cys		Somatic	139	0	0		WXS	Illumina HiSeq	Phase_I	143	0.03	4	NM_004525	1	0.00	0	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.943340	0.34283	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.96136	-3.92	5.66	4.46	0.54185	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.998870	0.08105	N	0.997127	D	0.97573	0.9205	M	0.83384	2.64	0.80722	D	1	D	0.65815	0.995	P	0.62813	0.907	D	0.93143	0.6543	10	0.72032	D	0.01	.	11.7826	0.52023	0.1319:0.0:0.0:0.8681	.	3334	P98164	LRP2_HUMAN	C	3334;29	ENSP00000263816:Y3334C	ENSP00000263816:Y3334C	Y	-	2	0	LRP2	169746372	0.692000	0.27719	0.417000	0.26559	0.074000	0.17049	3.101000	0.50283	0.913000	0.36797	0.533000	0.62120	TAC			0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255231.2		NM_004525	
PGAP1	80055	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	197791204	197791204	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr2:197791204G>C	ENST00000354764.4	-	1	251	c.137C>G	c.(136-138)cCg>cGg	p.P46R	PGAP1_ENST00000409475.1_Missense_Mutation_p.P46R|PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	46					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CTGATACTCCGGGTACTCAAA	0.537																																					p.P46R													.	.			0			c.C137G												193.0	213.0	206.0					2																	197791204		2203	4300	6503	SO:0001583	missense	80055	exon1			TACTCCGGGTACT		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.137C>G	2.37:g.197791204G>C	ENSP00000346809:p.Pro46Arg		Somatic	206	0	0		WXS	Illumina HiSeq	.	203	0.18	37	NM_024989	2	0.50	1	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308646	0.60305	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.75982	0.3924	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.964;0.998	T	0.79115	-0.1936	9	0.87932	D	0	-6.2175	13.2964	0.60298	0.0:0.0:1.0:0.0	.	46;46	Q75T13-3;Q75T13	.;PGAP1_HUMAN	R	46	.	ENSP00000346809:P46R	P	-	2	0	PGAP1	197499449	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.894000	0.87336	2.158000	0.67659	0.313000	0.20887	CCG			0.537	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256103.5		NM_024989	
ARFGEF2	10564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	47588957	47588957	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr20:47588957G>C	ENST00000371917.4	+	11	1520	c.1520G>C	c.(1519-1521)tGt>tCt	p.C507S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	507					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.C507S(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACGAGGATCTGTGCAGGTATT	0.408																																					p.C507S	Esophageal Squamous(176;1738 1974 26285 33069 35354)												ARFGEF2,NS,carcinoma,0,1	ARFGEF2	0	1	1	Substitution - Missense(1)	breast(1)	c.G1520C												76.0	73.0	74.0					20																	47588957		2203	4300	6503	SO:0001583	missense	10564	exon11			GGATCTGTGCAGG	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1520G>C	20.37:g.47588957G>C	ENSP00000360985:p.Cys507Ser		Somatic	85	0	0		WXS	Illumina HiSeq	.	96	0.11	11	NM_006420	4	0.25	1	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.423950	0.62733	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.49720	0.77	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	M	0.66297	2.02	0.80722	D	1	B	0.18610	0.029	B	0.31245	0.126	T	0.48725	-0.9010	10	0.46703	T	0.11	.	16.532	0.84364	0.0:0.1303:0.8696:0.0	.	507	Q9Y6D5	BIG2_HUMAN	S	507	ENSP00000360985:C507S	ENSP00000360985:C507S	C	+	2	0	ARFGEF2	47022364	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.555000	0.82223	2.793000	0.96121	0.655000	0.94253	TGT			0.408	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079627.1		NM_006420	
WDR4	10785	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	44273835	44273835	+	Silent	SNP	C	C	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr21:44273835C>T	ENST00000398208.2	-	9	878	c.819G>A	c.(817-819)ctG>ctA	p.L273L	WDR4_ENST00000330317.2_Silent_p.L273L|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		TGCGGGCGTCCAGCTGGAAGA	0.617																																					p.L273L													.	.			0			c.G819A												21.0	18.0	19.0					21																	44273835		2190	4285	6475	SO:0001819	synonymous_variant	10785	exon9			GGCGTCCAGCTGG	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.819G>A	21.37:g.44273835C>T			Somatic	36	0	0		WXS	Illumina HiSeq	.	48	0.13	6	NM_018669	15	0.20	3		Silent	SNP	ENST00000398208.2	37	CCDS13691.1																																																																																					0.617	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195479.1			
ITGB2	3689	mdanderson.org	37	21	46308737	46308737	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr21:46308737G>T	ENST00000397850.2	-	15	2403	c.1951C>A	c.(1951-1953)Cag>Aag	p.Q651K	ITGB2_ENST00000397857.1_Missense_Mutation_p.Q651K|ITGB2_ENST00000302347.5_Missense_Mutation_p.Q651K|ITGB2_ENST00000397852.1_Missense_Mutation_p.Q651K|ITGB2_ENST00000355153.4_Missense_Mutation_p.Q651K|ITGB2_ENST00000397854.3_Missense_Mutation_p.Q594K			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	651					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTCGACAGCTGCAGGCCCGGA	0.662																																					p.Q651K													.	.			0			c.C1951A												68.0	62.0	64.0					21																	46308737		2203	4300	6503	SO:0001583	missense	3689	exon14			ACAGCTGCAGGCC	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1951C>A	21.37:g.46308737G>T	ENSP00000380948:p.Gln651Lys		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_001127491	71	0.00	0	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	G	3.557	-0.090502	0.07053	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.07	-5.68	0.02436	Integrin beta subunit, tail (2);	.	.	.	.	T	0.70937	0.3281	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.61724	-0.7004	9	0.07325	T	0.83	.	8.81	0.34961	0.0:0.1831:0.1622:0.6546	.	594;651	A8MYE6;P05107	.;ITB2_HUMAN	K	651;651;594;651;651;651	ENSP00000380950:Q651K;ENSP00000380955:Q651K;ENSP00000380952:Q594K;ENSP00000347279:Q651K;ENSP00000380948:Q651K;ENSP00000303242:Q651K	ENSP00000303242:Q651K	Q	-	1	0	ITGB2	45133165	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.536000	0.02208	-0.846000	0.04174	0.655000	0.94253	CAG			0.662	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206566.2		NM_000211	
MYO18B	84700	ucsc.edu	37	22	26239830	26239830	+	Missense_Mutation	SNP	G	G	T	rs377148843		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr22:26239830G>T	ENST00000407587.2	+	18	3509	c.3340G>T	c.(3340-3342)Gat>Tat	p.D1114Y	MYO18B_ENST00000335473.7_Missense_Mutation_p.D1113Y|MYO18B_ENST00000536101.1_Missense_Mutation_p.D1113Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1113	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCGGCCCTGGATGCACCCCA	0.602																																					p.D1113Y													.	MYO18B	322		0			c.G3337T							G	TYR/ASP	0,3940		0,0,1970	37.0	38.0	38.0		3337	3.5	1.0	22		38	1,8261		0,1,4130	no	missense	MYO18B	NM_032608.5	160	0,1,6100	TT,TG,GG		0.0121,0.0,0.0082	possibly-damaging	1113/2568	26239830	1,12201	1970	4131	6101	SO:0001583	missense	84700	exon18			GCCCTGGATGCAC	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3340G>T	22.37:g.26239830G>T	ENSP00000386096:p.Asp1114Tyr		Somatic	41	0	0		WXS	Illumina HiSeq		39	0.10	4	NM_032608	0		0	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	18.60	3.659465	0.67586	0.0	1.21E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.74526	-0.85;-0.85;-0.85	4.55	3.48	0.39840	Myosin head, motor domain (2);	0.353824	0.30565	N	0.009345	T	0.77745	0.4176	L	0.54965	1.715	0.35494	D	0.79919	D;D;D;D	0.63046	0.983;0.992;0.98;0.991	P;D;P;P	0.63703	0.807;0.917;0.805;0.865	T	0.81747	-0.0791	10	0.87932	D	0	.	5.3115	0.15833	0.2221:0.0:0.7779:0.0	.	626;1113;1114;1113	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	Y	1113;1113;1114	ENSP00000441229:D1113Y;ENSP00000334563:D1113Y;ENSP00000386096:D1114Y	ENSP00000334563:D1113Y	D	+	1	0	MYO18B	24569830	1.000000	0.71417	0.997000	0.53966	0.650000	0.38633	6.292000	0.72725	2.373000	0.80994	0.650000	0.86243	GAT			0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding		OTTHUMT00000400691.1		NM_032608	
RASL10A	10633	mdanderson.org	37	22	29706886	29706886	+	IGR	SNP	G	G	T	rs572882535		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr22:29706886G>T	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000403764.1_Missense_Mutation_p.R303L|GAS2L1_ENST00000471961.1_Missense_Mutation_p.R303L|GAS2L1_ENST00000407854.1_Missense_Mutation_p.R303L|GAS2L1_ENST00000360113.2_Intron|GAS2L1_ENST00000406549.3_Missense_Mutation_p.R303L|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R303L|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000341313.6_Missense_Mutation_p.R303L	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						ACCAGTCCCCGCCCTGCTAGC	0.672																																					p.R303L													.	.			0			c.G908T												60.0	68.0	65.0					22																	29706886		2203	4300	6503	SO:0001628	intergenic_variant	10634	exon5			GTCCCCGCCCTGC	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29706886G>T			Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	24	0.13	3	NM_152237	27	0.00	0	Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	g	16.20	3.055035	0.55325	.	.	ENSG00000185340	ENST00000407647;ENST00000333679;ENST00000406549;ENST00000341313;ENST00000403764;ENST00000471961;ENST00000407854	T;T;T;T;T;T	0.51325	0.71;0.74;0.87;0.71;0.71;0.71	4.08	4.08	0.47627	.	0.160277	0.39020	N	0.001499	T	0.49643	0.1569	L	0.27053	0.805	0.80722	D	1	B;D;D;D	0.59357	0.125;0.985;0.969;0.969	B;P;P;P	0.60173	0.034;0.87;0.586;0.586	T	0.42015	-0.9476	10	0.30078	T	0.28	-9.2493	13.8136	0.63278	0.0:0.0:1.0:0.0	.	303;303;303;303	B5MCR7;E7EQM6;A0A5E8;Q99501	.;.;.;GA2L1_HUMAN	L	303	ENSP00000385554:R303L;ENSP00000383995:R303L;ENSP00000344012:R303L;ENSP00000385358:R303L;ENSP00000450152:R303L;ENSP00000385023:R303L	ENSP00000332834:R303L	R	+	2	0	GAS2L1	28036886	0.169000	0.23002	0.995000	0.50966	0.367000	0.29736	4.491000	0.60326	2.116000	0.64780	0.306000	0.20318	CGC			0.672	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321342.1			
FBLN1	2192	mdanderson.org	37	22	45927186	45927186	+	Silent	SNP	C	C	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr22:45927186C>T	ENST00000327858.6	+	5	621	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	FBLN1_ENST00000442170.2_Silent_p.L176L|FBLN1_ENST00000402984.3_Silent_p.L214L|FBLN1_ENST00000348697.2_Silent_p.L176L|FBLN1_ENST00000262722.7_Silent_p.L176L|FBLN1_ENST00000340923.5_Silent_p.L176L	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	176	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGACCCATATCTGAATGACCG	0.478																																					p.L176L													.	.			0			c.C526T												114.0	116.0	115.0					22																	45927186		2203	4300	6503	SO:0001819	synonymous_variant	2192	exon5			CCATATCTGAATG		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.526C>T	22.37:g.45927186C>T			Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_006486	457	0.00	0	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	CCDS14067.1																																																																																					0.478	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000322287.1		NM_006486	
HSP90AA5P	730211	bcgsc.ca	37	3	183834416	183834416	+	IGR	SNP	C	C	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr3:183834416C>T								HTR3E (9633 upstream) : RP11-778D9.13 (16313 downstream)																							CAGAGCTTGACCAATAACTGG	0.423																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	730211	.			GCTTGACCAATAA																													3.37:g.183834416C>T			Somatic	26	0	0		WXS	Illumina HiSeq	Phase_1	31	0.48	15	.	0		0		RNA	SNP		37																																																																																					0	0.423										
IDUA	3425	mdanderson.org	37	4	997352	997352	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr4:997352G>T	ENST00000247933.4	+	12	1754	c.1666G>T	c.(1666-1668)Gcc>Tcc	p.A556S	IDUA_ENST00000453894.1_Missense_Mutation_p.A578S|IDUA_ENST00000514224.1_Missense_Mutation_p.A424S	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	556					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCGGCTCCGCGCCCTGCCCCT	0.711																																					p.A556S													.	.			0			c.G1666T												40.0	43.0	42.0					4																	997352		2199	4299	6498	SO:0001583	missense	3425	exon12			CTCCGCGCCCTGC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1666G>T	4.37:g.997352G>T	ENSP00000247933:p.Ala556Ser		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_000203	47	0.00	0	B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	G	8.194	0.796632	0.16327	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	T;T;T	0.78364	-1.17;-1.17;-1.17	4.82	3.89	0.44902	.	0.376513	0.27236	N	0.020299	T	0.65133	0.2662	L	0.57536	1.79	0.09310	N	1	B;P	0.44877	0.076;0.845	B;B	0.34301	0.026;0.179	T	0.63633	-0.6593	10	0.44086	T	0.13	-5.2794	4.6652	0.12662	0.1138:0.0:0.6672:0.219	.	578;556	B3KWK6;P35475	.;IDUA_HUMAN	S	556;578;424	ENSP00000247933:A556S;ENSP00000396458:A578S;ENSP00000425081:A424S	ENSP00000247933:A556S	A	+	1	0	IDUA	987352	0.001000	0.12720	0.009000	0.14445	0.011000	0.07611	0.950000	0.29122	2.515000	0.84797	0.655000	0.94253	GCC			0.711	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000201812.1		NM_000203	
PPARGC1A	10891	broad.mit.edu	37	4	23830066	23830066	+	Silent	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr4:23830066G>T	ENST00000264867.2	-	5	833	c.714C>A	c.(712-714)tcC>tcA	p.S238S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	238					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ACTTCTTTTTGGAGGTGCATT	0.507																																					p.S238S	Esophageal Squamous(29;694 744 13796 34866 44181)												PPARGC1A,NS,malignant_melanoma,-1,2	PPARGC1A	129	2	0			c.C714A												432.0	385.0	401.0					4																	23830066		2203	4300	6503	SO:0001819	synonymous_variant	10891	exon5			CTTTTTGGAGGTG	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.714C>A	4.37:g.23830066G>T			Somatic	239	0	0		WXS	Illumina HiSeq	Phase_I	177	0.02	4	NM_013261	0		0	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	CCDS3429.1																																																																																					0.507	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000214976.1		NM_013261	
LNX1	84708	hgsc.bcm.edu	37	4	54373461	54373461	+	Intron	SNP	A	A	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr4:54373461A>T	ENST00000263925.7	-	4	1090				FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000510785.1_RNA|LNX1-AS1_ENST00000511989.1_RNA|LNX1_ENST00000306888.2_Intron|LNX1-AS1_ENST00000514364.1_RNA	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase						protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATGTCCATCCAGCCTTATGGG	0.537																																					.													.	.			0			.												117.0	101.0	106.0					4																	54373461		2203	4300	6503	SO:0001627	intron_variant	100873939	.			CCATCCAGCCTTA	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.775+22T>A	4.37:g.54373461A>T			Somatic	79	0	0		WXS	Illumina HiSeq	.	63	0.32	20	.	0		0	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	RNA	SNP	ENST00000263925.7	37	CCDS47057.1																																																																																					0.537	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219934.2			
GRID2	2895	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	94006231	94006232	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	CG	CG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr4:94006231_94006232delCG	ENST00000282020.4	+	3	588_589	c.330_331delCG	c.(328-333)gacgccfs	p.A111fs	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	111					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTTTGGCAGACGCCATGCATAT	0.55																																					p.110_110del													.	GRID2	233		0			c.329_330del																																									SO:0001589	frameshift_variant	2895	exon3			GGCAGACGCCATG	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.330_331delCG	4.37:g.94006231_94006232delCG	ENSP00000282020:p.Ala111fs		Somatic	100	0	0		WXS	Illumina HiSeq	.	63	0.37	23	NM_001510	0		0	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Frame_Shift_Del	DEL	ENST00000282020.4	37	CCDS3637.1																																																																																					0.550	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253588.2			
OTUD4	54726	hgsc.bcm.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.H897H			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																					p.H897H													OTUD4,bladder,carcinoma,0,2	OTUD4	0	2	0			c.T2691C												118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726	exon21			GGGAGGATGAGCC		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G			Somatic	112	0.0089285714	1		WXS	Illumina HiSeq	.	101	0.06	6	NM_001102653	11	0.00	0	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37																																																																																						0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000365117.2		NM_017493	
MIER3	166968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	56219302	56219302	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr5:56219302C>T	ENST00000381199.3	-	13	1316	c.1306G>A	c.(1306-1308)Gtt>Att	p.V436I	MIER3_ENST00000409421.1_Missense_Mutation_p.V373I|MIER3_ENST00000381213.3_Missense_Mutation_p.V435I|SETD9_ENST00000541720.1_Intron|MIER3_ENST00000381226.3_Missense_Mutation_p.V441I			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCTGTTACAACAGGCACATGA	0.453																																					p.V435I													.	.			0			c.G1303A												57.0	57.0	57.0					5																	56219302		2203	4300	6503	SO:0001583	missense	166968	exon13			TTACAACAGGCAC	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1306G>A	5.37:g.56219302C>T	ENSP00000370596:p.Val436Ile		Somatic	116	0	0		WXS	Illumina HiSeq	.	96	0.15	14	NM_152622	6	0.17	1	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	C	14.07	2.425432	0.43020	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.79	5.79	0.91817	.	0.429971	0.27181	N	0.020558	T	0.48040	0.1478	L	0.44542	1.39	0.41648	D	0.989112	B;B;B	0.33238	0.282;0.403;0.403	B;B;B	0.32762	0.073;0.152;0.152	T	0.36744	-0.9735	10	0.19590	T	0.45	-1.8917	20.0442	0.97604	0.0:1.0:0.0:0.0	.	436;441;435	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	I	441;435;436;373	ENSP00000370624:V441I;ENSP00000370611:V435I;ENSP00000370596:V436I;ENSP00000386584:V373I	ENSP00000370596:V436I	V	-	1	0	MIER3	56255059	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.285000	0.65633	2.747000	0.94245	0.591000	0.81541	GTT			0.453	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000132523.2		NM_152622	
POLK	51426	broad.mit.edu	37	5	74892821	74892821	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr5:74892821T>C	ENST00000241436.4	+	13	2475	c.2303T>C	c.(2302-2304)tTa>tCa	p.L768S	POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.L678S|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.L570S|POLK_ENST00000352007.5_Missense_Mutation_p.L570S	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	768					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CAGCCTTACTTATGTGAAGTG	0.378								DNA polymerases (catalytic subunits)																													p.L768S													.	POLK	123		0			c.T2303C												91.0	97.0	95.0					5																	74892821		2201	4299	6500	SO:0001583	missense	51426	exon13			CTTACTTATGTGA	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.2303T>C	5.37:g.74892821T>C	ENSP00000241436:p.Leu768Ser		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	73	0.05	4	NM_016218	6	0.00	0	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	T	7.042	0.562735	0.13498	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.55234	1.34;0.53;0.53;1.34	4.54	-1.01	0.10169	.	2.910340	0.00907	N	0.002439	T	0.44350	0.1289	L	0.38531	1.155	0.09310	N	1	B;B	0.14012	0.007;0.009	B;B	0.10450	0.005;0.003	T	0.23797	-1.0178	10	0.18710	T	0.47	0.3248	11.3741	0.49717	0.0:0.5204:0.0:0.4796	.	570;768	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	S	768;570;570;678	ENSP00000241436:L768S;ENSP00000342256:L570S;ENSP00000426853:L570S;ENSP00000369848:L678S	ENSP00000241436:L768S	L	+	2	0	POLK	74928577	0.000000	0.05858	0.000000	0.03702	0.208000	0.24298	-0.584000	0.05800	-0.362000	0.08113	-0.263000	0.10527	TTA			0.378	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219945.3		NM_016218	
RPS14	6208	mdanderson.org	37	5	149823857	149823857	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr5:149823857G>T	ENST00000401695.3	-	5	494	c.448C>A	c.(448-450)Cgt>Agt	p.R150S	RPS14_ENST00000312037.5_Missense_Mutation_p.R150S|RPS14_ENST00000407193.1_Missense_Mutation_p.R150S			P62263	RS14_HUMAN	ribosomal protein S14	150					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTCACAGACGGCGACCACGG	0.512																																					p.R150S													.	.			0			c.C448A												71.0	83.0	79.0					5																	149823857		2203	4300	6503	SO:0001583	missense	6208	exon5			ACAGACGGCGACC		CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"""S ribosomal proteins"""	10387	protein-coding gene	gene with protein product	"""emetine resistance"", ""40S ribosomal protein S14"""	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.448C>A	5.37:g.149823857G>T	ENSP00000385958:p.Arg150Ser		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	40	0.08	3	NM_001025070	2057	0.00	3	B2R5G5|D3DQG5|P06366|Q5BJI0	Missense_Mutation	SNP	ENST00000401695.3	37	CCDS4307.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018357	0.75275	.	.	ENSG00000164587	ENST00000401695;ENST00000407193;ENST00000521466;ENST00000312037	.	.	.	5.49	5.49	0.81192	.	0.091906	0.85682	D	0.000000	T	0.79464	0.4450	M	0.93978	3.48	0.80722	D	1	P	0.39748	0.686	B	0.41299	0.353	D	0.84699	0.0727	9	0.87932	D	0	.	19.7245	0.96157	0.0:0.0:1.0:0.0	.	150	P62263	RS14_HUMAN	S	150	.	ENSP00000311028:R150S	R	-	1	0	RPS14	149804050	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.251000	0.95483	2.735000	0.93741	0.561000	0.74099	CGT			0.512	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252373.1		NM_001025071	
FLT4	2324	mdanderson.org	37	5	180038336	180038336	+	Silent	SNP	G	G	T	rs140710164	byFrequency	TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr5:180038336G>T	ENST00000261937.6	-	27	3759	c.3681C>A	c.(3679-3681)gcC>gcA	p.A1227A	FLT4_ENST00000393347.3_Silent_p.A1227A|FLT4_ENST00000502649.1_Silent_p.A1227A	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1227					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGACCTGGCGGCCAGGCTGT	0.607																																					p.A1227A	Colon(97;1075 1466 27033 27547 35871)												FLT4_ENST00000261937,NS,carcinoma,0,4	FLT4_ENST00000261937	0	4	0			c.C3681A												75.0	79.0	78.0					5																	180038336		2203	4300	6503	SO:0001819	synonymous_variant	2324	exon27			CCTGGCGGCCAGG	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3681C>A	5.37:g.180038336G>T			Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_182925	27	0.00	0	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	CCDS4457.1																																																																																					0.607	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253527.4			
JARID2	3720	broad.mit.edu;mdanderson.org	37	6	15501152	15501152	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr6:15501152G>A	ENST00000341776.2	+	8	2204	c.1960G>A	c.(1960-1962)Gac>Aac	p.D654N	JARID2_ENST00000397311.3_Missense_Mutation_p.D482N|JARID2_ENST00000541660.1_Missense_Mutation_p.D616N	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	654	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTGTGAGCTCGACCTGGCCTG	0.502																																					p.D654N													.	JARID2	135		0			c.G1960A												105.0	112.0	110.0					6																	15501152		2203	4300	6503	SO:0001583	missense	3720	exon8			GAGCTCGACCTGG	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1960G>A	6.37:g.15501152G>A	ENSP00000341280:p.Asp654Asn		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	74	0.05	4	NM_004973	16	0.06	1	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642988	0.87859	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.69435	-0.4;-0.4;-0.4	5.14	4.27	0.50696	ARID/BRIGHT DNA-binding domain (5);	0.046783	0.85682	D	0.000000	T	0.76227	0.3958	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80708	-0.1262	10	0.72032	D	0.01	-20.5158	15.0451	0.71822	0.0:0.0:0.8568:0.1432	.	616;654	F5H590;Q92833	.;JARD2_HUMAN	N	654;482;616	ENSP00000341280:D654N;ENSP00000380478:D482N;ENSP00000444623:D616N	ENSP00000341280:D654N	D	+	1	0	JARID2	15609131	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.624000	0.98398	1.144000	0.42321	0.555000	0.69702	GAC			0.502	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000039926.1		NM_004973	
BEND3	57673	mdanderson.org	37	6	107390566	107390566	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr6:107390566C>T	ENST00000369042.1	-	4	2019	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	BEND3_ENST00000429433.2_Missense_Mutation_p.R610H			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	610	BEN 3. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GAGCTTGATGCGGGAGGGGTC	0.627																																					p.R610H													.	.			0			c.G1829A												23.0	24.0	23.0					6																	107390566		2203	4300	6503	SO:0001583	missense	57673	exon5			TTGATGCGGGAGG	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1829G>A	6.37:g.107390566C>T	ENSP00000358038:p.Arg610His		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_001080450	4	0.00	0	A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097588	0.76870	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	T;T	0.44083	0.93;0.93	4.9	4.9	0.64082	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	N	0.20986	0.625	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.52704	-0.8540	10	0.87932	D	0	-13.5458	18.2604	0.90033	0.0:1.0:0.0:0.0	.	610	Q5T5X7	BEND3_HUMAN	H	610	ENSP00000358038:R610H;ENSP00000411268:R610H	ENSP00000358038:R610H	R	-	2	0	BEND3	107497259	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.273000	0.78527	2.540000	0.85666	0.555000	0.69702	CGC			0.627	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041686.1		NM_020913	
RP11-274B21.1	0	broad.mit.edu	37	7	128210684	128210685	+	RNA	INS	-	-	T	rs386717721|rs200185648|rs201622560|rs201660766		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr7:128210684_128210685insT	ENST00000605862.1	+	0	189																											GCCACCATGACCATCCTCCTTA	0.525																																					.													.	.			0			.																																											0	.			CCATGACCATCCT																													7.37:g.128210684_128210685insT			Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	12	0.42	5	.	0		0		RNA	INS	ENST00000605862.1	37																																																																																						0.525	RP11-274B21.1-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000468355.1			
RP11-274B21.1	0	broad.mit.edu	37	7	128210686	128210687	+	RNA	DEL	AT	AT	-	rs386717721|rs200185648|rs55946993|rs56180919		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr7:128210686_128210687delAT	ENST00000605862.1	+	0	189																											CACCATGACCATCCTCCTTAAA	0.525																																					.													.	.			0			.																																											0	.			ATGACCATCCTCC																													7.37:g.128210686_128210687delAT			Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	11	0.45	5	.	0		0		RNA	DEL	ENST00000605862.1	37																																																																																						0.525	RP11-274B21.1-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000468355.1			
FAM150A	389658	broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	53477732	53477732	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr8:53477732G>A	ENST00000358543.4	-	1	335	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S	FAM150A_ENST00000523939.1_Missense_Mutation_p.P29S	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	29						extracellular region (GO:0005576)				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				CGCCCCCGGGGCCTCCCGTGG	0.741																																					p.P29S													.	FAM150A	6		0			c.C85T												3.0	3.0	3.0					8																	53477732		1560	3095	4655	SO:0001583	missense	389658	exon1			CCCGGGGCCTCCC		CCDS6150.1	8q11.23	2007-12-18			ENSG00000196711	ENSG00000196711			33775	protein-coding gene	gene with protein product							Standard	NM_207413		Approved	UNQ9433	uc003xrd.3	Q6UXT8	OTTHUMG00000164256	ENST00000358543.4:c.85C>T	8.37:g.53477732G>A	ENSP00000351345:p.Pro29Ser		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	66	0.12	8	NM_207413	2	0.00	0	B7ZMG9	Missense_Mutation	SNP	ENST00000358543.4	37	CCDS6150.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.862011	0.32884	.	.	ENSG00000196711	ENST00000358543;ENST00000523939	.	.	.	2.8	1.89	0.25635	.	0.562468	0.14332	N	0.326319	T	0.20292	0.0488	N	0.24115	0.695	0.09310	N	1	B;B	0.30709	0.291;0.291	B;B	0.31191	0.125;0.072	T	0.18241	-1.0343	9	0.19590	T	0.45	.	6.1156	0.20124	0.1481:0.0:0.8519:0.0	.	29;29	B7ZMG9;Q6UXT8	.;F150A_HUMAN	S	29	.	ENSP00000351345:P29S	P	-	1	0	FAM150A	53640285	0.000000	0.05858	0.007000	0.13788	0.010000	0.07245	0.303000	0.19210	0.719000	0.32188	0.467000	0.42956	CCC			0.741	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000377959.1		NM_207413	
VPS13B	157680	broad.mit.edu	37	8	100866473	100866473	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr8:100866473T>C	ENST00000358544.2	+	56	11042	c.10931T>C	c.(10930-10932)cTt>cCt	p.L3644P	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L3619P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3644					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTGGGGCCCTTTTTAGAGCA	0.542																																					p.L3644P	Colon(161;2205 2542 7338 31318)												.	VPS13B	811		0			c.T10931C												41.0	37.0	38.0					8																	100866473		2203	4300	6503	SO:0001583	missense	157680	exon56			GGGCCCTTTTTAG	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10931T>C	8.37:g.100866473T>C	ENSP00000351346:p.Leu3644Pro		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	109	0.04	4	NM_017890	13	0.00	0	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.058890	0.76074	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.74209	-0.82;-0.82	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.88144	0.2846	10	0.87932	D	0	.	15.618	0.76784	0.0:0.0:0.0:1.0	.	3619;3644	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	P	3619;3644	ENSP00000349685:L3619P;ENSP00000351346:L3644P	ENSP00000349685:L3619P	L	+	2	0	VPS13B	100935649	1.000000	0.71417	0.978000	0.43139	0.916000	0.54674	7.474000	0.81024	2.073000	0.62155	0.528000	0.53228	CTT			0.542	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000277138.1		NM_184042	
TATDN1	83940	broad.mit.edu	37	8	125520718	125520718	+	Silent	SNP	T	T	C			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr8:125520718T>C	ENST00000276692.6	-	8	550	c.513A>G	c.(511-513)ggA>ggG	p.G171G	TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000517678.1_Silent_p.G117G|TATDN1_ENST00000519548.1_Silent_p.G124G|TATDN1_ENST00000605953.1_Silent_p.G171G	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	171					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TACTTACCACTCCCCCTACAC	0.308																																					p.G171G													.	TATDN1	29		0			c.A513G												80.0	80.0	80.0					8																	125520718		2201	4296	6497	SO:0001819	synonymous_variant	83940	exon8			TACCACTCCCCCT	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.513A>G	8.37:g.125520718T>C			Somatic	290	0.0034482759	1		WXS	Illumina HiSeq	Phase_I	365	0.02	8	NM_032026	60	0.00	0	B2R5J0|Q8TD02|Q9BY40	Silent	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	T	8.562	0.878025	0.17395	.	.	ENSG00000147687	ENST00000519232	.	.	.	5.51	1.71	0.24356	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23084	-1.0198	4	.	.	.	-11.38	1.2405	0.01962	0.2387:0.1334:0.124:0.5038	.	.	.	.	G	201	.	.	S	-	1	0	TATDN1	125589899	0.996000	0.38824	0.998000	0.56505	0.833000	0.47200	0.265000	0.18515	0.108000	0.17862	-0.341000	0.08007	AGT			0.308	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000381655.1		NM_032026	
GSDMD	79792	mdanderson.org	37	8	144644686	144644686	+	Nonsense_Mutation	SNP	G	G	T	rs144173624	byFrequency	TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr8:144644686G>T	ENST00000526406.1	+	13	2090	c.1207G>T	c.(1207-1209)Gag>Tag	p.E403*	GSDMD_ENST00000533063.1_Nonsense_Mutation_p.E451*|GSDMD_ENST00000262580.4_Nonsense_Mutation_p.E403*	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	403				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GGGGCCGCTCGAGCTGGTGAG	0.637																																					p.E403X													.	.			0			c.G1207T												25.0	30.0	28.0					8																	144644686		2194	4298	6492	SO:0001587	stop_gained	79792	exon13			CCGCTCGAGCTGG	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1207G>T	8.37:g.144644686G>T	ENSP00000433209:p.Glu403*		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	39	0.08	3	NM_001166237	237	0.00	0	D3DWJ9|Q96Q98	Nonsense_Mutation	SNP	ENST00000526406.1	37	CCDS34956.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.585043|3.585043	0.66105|0.66105	.|.	.|.	ENSG00000104518|ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580|ENST00000525208	.|.	.|.	.|.	4.3|4.3	-8.6|-8.6	0.00889|0.00889	.|.	1.544540|.	0.03331|.	N|.	0.193390|.	.|T	.|0.36717	.|0.0977	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42565	.|-0.9444	.|4	0.15499|.	T|.	0.54|.	-1.83|-1.83	3.7826|3.7826	0.08686|0.08686	0.395:0.3805:0.1285:0.0959|0.395:0.3805:0.1285:0.0959	.|.	.|.	.|.	.|.	X|L	403;451;403|98	.|.	ENSP00000262580:E403X|.	E|R	+|+	1|2	0|0	GSDMD|GSDMD	144715829|144715829	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.096000|0.096000	0.18686|0.18686	-0.827000|-0.827000	0.04424|0.04424	-2.612000|-2.612000	0.00445|0.00445	-0.163000|-0.163000	0.13421|0.13421	GAG|CGA			0.637	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382046.3		NM_024736	
EPPK1	83481	mdanderson.org	37	8	144940666	144940666	+	Silent	SNP	G	G	A	rs368004220		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr8:144940666G>A	ENST00000525985.1	-	2	6827	c.6756C>T	c.(6754-6756)ggC>ggT	p.G2252G				P58107	EPIPL_HUMAN	epiplakin 1	2252						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCGCAGCACGCCCTTCCACA	0.711																																					p.G2252G													EPPK1,NS,carcinoma,0,2	EPPK1	0	2	0			c.C6756T							G		1,4367		0,1,2183	55.0	52.0	53.0		6756	1.8	0.9	8		53	14,8508		0,14,4247	no	coding-synonymous	EPPK1	NM_031308.1		0,15,6430	AA,AG,GG		0.1643,0.0229,0.1164		2252/2420	144940666	15,12875	2184	4261	6445	SO:0001819	synonymous_variant	83481	exon1			CAGCACGCCCTTC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6756C>T	8.37:g.144940666G>A			Somatic	49	0.0204081633	1		WXS	Illumina HiSeq	Phase_I	62	0.08	5	NM_031308	86	0.06	5	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																						0.711	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000382675.1		NM_031308	
PRUNE2	158471	ucsc.edu;bcgsc.ca	37	9	79253165	79253165	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr9:79253165G>T	ENST00000376718.3	-	13	8891	c.8768C>A	c.(8767-8769)gCc>gAc	p.A2923D	PRUNE2_ENST00000223609.6_Missense_Mutation_p.A188D|PRUNE2_ENST00000443509.2_Missense_Mutation_p.A172D|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000428286.1_Missense_Mutation_p.A2565D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2923	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAAACAGGCGGCAAACACAAT	0.423																																					p.A2923D													.	PRUNE2	331		0			c.C8768A												72.0	67.0	68.0					9																	79253165		1568	3582	5150	SO:0001583	missense	158471	exon13			CAGGCGGCAAACA	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8768C>A	9.37:g.79253165G>T	ENSP00000365908:p.Ala2923Asp		Somatic	50	0	0		WXS	Illumina HiSeq		29	0.14	4	NM_015225	12	0.00	0	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.982185|4.982185	0.93044|0.93044	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033|ENST00000426088	T;T;T;T;T;T|.	0.60299|.	0.2;0.2;0.2;0.2;0.2;0.2|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Cellular retinaldehyde-binding/triple function, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82342|.	0.5016|.	M|M	0.82923|0.82923	2.615|2.615	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	0.996;0.855;0.999;1.0|.	D;P;D;D|.	0.97110|.	0.969;0.661;0.981;1.0|.	T|.	0.83259|.	-0.0049|.	10|.	0.72032|.	D|.	0.01|.	-15.8655|-15.8655	19.3181|19.3181	0.94224|0.94224	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	188;187;172;2923|.	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3|.	.;.;.;PRUN2_HUMAN|.	D|X	188;2923;2565;144;172;96;188;2926|2247	ENSP00000365907:A188D;ENSP00000365908:A2923D;ENSP00000397425:A2565D;ENSP00000393843:A172D;ENSP00000393657:A96D;ENSP00000223609:A188D|.	ENSP00000223609:A188D|.	A|C	-|-	2|3	0|2	PRUNE2|PRUNE2	78442985|78442985	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	9.476000|9.476000	0.97823|0.97823	2.584000|2.584000	0.87258|0.87258	0.555000|0.555000	0.69702|0.69702	GCC|TGC			0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052730.2		NM_138818	
GKAP1	80318	mdanderson.org	37	9	86403589	86403589	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr9:86403589G>T	ENST00000376371.2	-	5	765	c.365C>A	c.(364-366)aCa>aAa	p.T122K	GKAP1_ENST00000376365.3_Missense_Mutation_p.T122K	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	122					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)		p.T122K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CATTTCAGATGTCAGCTACAA	0.299																																					p.T122K													GKAP1,rectum,carcinoma,0,1	GKAP1	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.C365A												119.0	120.0	120.0					9																	86403589		2201	4292	6493	SO:0001583	missense	80318	exon5			TCAGATGTCAGCT	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.365C>A	9.37:g.86403589G>T	ENSP00000365550:p.Thr122Lys		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_001135953	12	0.00	0	Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	ENST00000376371.2	37	CCDS35049.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495548	0.85069	.	.	ENSG00000165113	ENST00000376371;ENST00000376365	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	M	0.76838	2.35	0.80722	D	1	P;D	0.58970	0.775;0.984	B;P	0.56700	0.436;0.804	T	0.79820	-0.1642	9	0.72032	D	0.01	-14.7711	19.1566	0.93514	0.0:0.0:1.0:0.0	.	122;122	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	K	122	.	ENSP00000365544:T122K	T	-	2	0	GKAP1	85593409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.725000	0.74752	2.700000	0.92200	0.585000	0.79938	ACA			0.299	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052839.2		NM_025211	
TNC	3371	bcgsc.ca;mdanderson.org	37	9	117846507	117846507	+	Silent	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr9:117846507G>T	ENST00000350763.4	-	4	2523	c.2112C>A	c.(2110-2112)gtC>gtA	p.V704V	TNC_ENST00000341037.4_Silent_p.V704V|TNC_ENST00000423613.2_Silent_p.V704V|TNC_ENST00000346706.3_Silent_p.V704V|TNC_ENST00000345230.3_Silent_p.V704V|TNC_ENST00000535648.1_Silent_p.V704V|TNC_ENST00000340094.3_Silent_p.V704V|TNC_ENST00000537320.1_Silent_p.V704V|TNC_ENST00000542877.1_Silent_p.V704V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	704	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCCTGGCGCTGACAGGAATGC	0.577																																					p.V704V													.	TNC	282		0			c.C2112A												86.0	80.0	82.0					9																	117846507		2203	4300	6503	SO:0001819	synonymous_variant	3371	exon4			GGCGCTGACAGGA		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2112C>A	9.37:g.117846507G>T			Somatic	70	0	0		WXS	Illumina HiSeq	Phase_1	55	0.09	5	NM_002160	14	0.00	0	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																					0.577	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055418.2		NM_002160	
IER5L	389792	mdanderson.org	37	9	131940157	131940157	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr9:131940157G>T	ENST00000372491.2	-	1	383	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	59	Gln-rich.												Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		tgctgctgctgGCGCCGGTAG	0.706																																					p.Q59K													.	.			0			c.C175A												7.0	11.0	10.0					9																	131940157		2079	4143	6222	SO:0001583	missense	389792	exon1			GCTGCTGGCGCCG	BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.175C>A	9.37:g.131940157G>T	ENSP00000361569:p.Gln59Lys		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	24	0.13	3	NM_203434	64	0.00	0	Q6P3E2	Missense_Mutation	SNP	ENST00000372491.2	37	CCDS43888.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917618	0.73098	.	.	ENSG00000188483	ENST00000372491	T	0.68181	-0.31	3.77	3.77	0.43336	.	0.182505	0.38326	U	0.001735	T	0.70518	0.3233	L	0.32530	0.975	0.37842	D	0.929073	D	0.65815	0.995	D	0.64410	0.925	T	0.75808	-0.3187	10	0.56958	D	0.05	.	13.1694	0.59589	0.0:0.0:1.0:0.0	.	59	Q5T953	IER5L_HUMAN	K	59	ENSP00000361569:Q59K	ENSP00000361569:Q59K	Q	-	1	0	IER5L	130979978	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	8.399000	0.90197	1.949000	0.56562	0.298000	0.19748	CAG			0.706	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054556.2			
SETX	23064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	135171355	135171355	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr9:135171355G>C	ENST00000224140.5	-	15	6192	c.6010C>G	c.(6010-6012)Ctc>Gtc	p.L2004V	SETX_ENST00000372169.2_Missense_Mutation_p.L2004V|SETX_ENST00000393220.1_Missense_Mutation_p.L2004V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2004					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCACACACGAGGACACGGTTT	0.373																																					p.L2004V													.	.			0			c.C6010G												200.0	177.0	185.0					9																	135171355		2203	4300	6503	SO:0001583	missense	23064	exon15			ACACGAGGACACG	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6010C>G	9.37:g.135171355G>C	ENSP00000224140:p.Leu2004Val		Somatic	118	0	0		WXS	Illumina HiSeq	.	84	0.51	43	NM_015046	14	0.50	7	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765009	0.69878	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000002	D	0.94801	0.8321	M	0.86178	2.8	0.44194	D	0.997012	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.996	D	0.95492	0.8570	10	0.87932	D	0	.	16.4644	0.84074	0.0:0.0:1.0:0.0	.	2004;2004;2004	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	V	2004;246;2004;2004	ENSP00000224140:L2004V;ENSP00000409143:L246V;ENSP00000361242:L2004V;ENSP00000376913:L2004V	ENSP00000224140:L2004V	L	-	1	0	SETX	134161176	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	3.994000	0.56994	2.523000	0.85059	0.467000	0.42956	CTC			0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054774.3		NM_015046	
C9orf172	389813	mdanderson.org	37	9	139741764	139741764	+	Silent	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chr9:139741764G>A	ENST00000436881.1	+	1	2898	c.2898G>A	c.(2896-2898)gtG>gtA	p.V966V	PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000371661.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	966										endometrium(2)|large_intestine(1)|lung(6)	9						TCGACTGGGTGGCCAGCGCCA	0.726																																					p.V966V													.	.			0			c.G2898A												3.0	4.0	4.0					9																	139741764		1625	3625	5250	SO:0001819	synonymous_variant	389813	exon1			CTGGGTGGCCAGC		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2898G>A	9.37:g.139741764G>A			Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	24	0.13	3	NM_001080482	1	0.00	0		Silent	SNP	ENST00000436881.1	37	CCDS48059.1																																																																																					0.726	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_001080482	
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																					p.N648D													.	FAM47C	267		7	Substitution - Missense(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	c.A1942G												51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444	exon1			CCTCCCAATACTG	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp		Somatic	109	0.0091743119	1		WXS	Illumina HiSeq	Phase_I	123	0.04	5	NM_001013736	0		0	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT			0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060508.1		NM_001013736	
FRMPD3	84443	bcgsc.ca	37	X	106846480	106846480	+	Silent	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chrX:106846480G>A	ENST00000276185.4	+	16	5310	c.5310G>A	c.(5308-5310)caG>caA	p.Q1770Q				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1770	Gln-rich.					cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						aacaacaacagcagcagcagc	0.582																																					.													.	.			0			.												3.0	2.0	2.0					X																	106846480		690	1560	2250	SO:0001819	synonymous_variant	84443	.			ACAACAGCAGCAG	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.5310G>A	X.37:g.106846480G>A			Somatic	119	0.025210084	3		WXS	Illumina HiSeq	Phase_1	201	0.03	7	.	0		0	Q96JK8	Silent	SNP	ENST00000276185.4	37																																																																																						0.582	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				XM_042978	
MXRA5Y	286544	bcgsc.ca	37	Y	14107793	14107793	+	IGR	SNP	G	G	A			TCGA-2G-AAM3-01A-11D-A435-10	TCGA-2G-AAM3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f7b131-38a9-4636-87e4-f0556ade7b0f	fe8b69d7-9bb8-469d-a362-9b55620b0e07	g.chrY:14107793G>A								AC011293.1 (160281 upstream) : RN7SL702P (286383 downstream)																							GATTGTGATCGCCTATCCTCC	0.592																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	286544	.			GTGATCGCCTATC																													Y.37:g.14107793G>A			Somatic	85	0	0		WXS	Illumina HiSeq	Phase_1	46	0.26	12	.	0		0		RNA	SNP		37																																																																																					0	0.592										
