#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
AHDC1	27245	broad.mit.edu	37	1	27878527	27878528	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr1:27878527_27878528insG	ENST00000247087.5	-	5	695_696	c.99_100insC	c.(97-102)cccaccfs	p.T34fs	AHDC1_ENST00000374011.2_Frame_Shift_Ins_p.T34fs			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	34	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		ggccggggggtgggggggccgc	0.708																																					p.T34fs													.	AHDC1	98		0			c.100_101insC									35,1099		16,3,548						0.5	1.0			1	174,1960		81,12,974	no	frameshift	AHDC1	NM_001029882.2		97,15,1522	A1A1,A1R,RR		8.1537,3.0864,6.3953				209,3059				SO:0001589	frameshift_variant	27245	exon6			GGGGGGTGGGGGG	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.100dupC	1.37:g.27878534_27878534dupG	ENSP00000247087:p.Thr34fs		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	38	0.26	10	NM_001029882	5	0.00	0	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Frame_Shift_Ins	INS	ENST00000247087.5	37	CCDS30652.1																																																																																					0.708	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009523.3			
SF3A3	10946	broad.mit.edu	37	1	38442580	38442580	+	Silent	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr1:38442580G>T	ENST00000373019.4	-	12	1936	c.981C>A	c.(979-981)atC>atA	p.I327I	SF3A3_ENST00000448721.2_Silent_p.I274I|SF3A3_ENST00000489537.1_5'Flank	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	327					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CATATTCATAGATCTGGGCTT	0.398																																					p.I327I													.	SF3A3	37		0			c.C981A												147.0	148.0	147.0					1																	38442580		2202	4300	6502	SO:0001819	synonymous_variant	10946	exon12			TTCATAGATCTGG	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.981C>A	1.37:g.38442580G>T			Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	102	0.04	4	NM_006802	374	0.00	0	D3DPT5|Q15460|Q5VT87	Silent	SNP	ENST00000373019.4	37	CCDS428.1																																																																																					0.398	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012976.1		NM_006802	
ATP1A4	480	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	160151732	160151732	+	Silent	SNP	A	A	G			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr1:160151732A>G	ENST00000368081.4	+	20	3351	c.2880A>G	c.(2878-2880)ttA>ttG	p.L960L	ATP1A4_ENST00000470705.1_Silent_p.L96L|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	960					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAAAGTCTTAATATTTGGGA	0.532																																					p.L960L													.	.			0			c.A2880G												129.0	131.0	130.0					1																	160151732		2203	4300	6503	SO:0001819	synonymous_variant	480	exon20			AGTCTTAATATTT	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2880A>G	1.37:g.160151732A>G			Somatic	128	0	0		WXS	Illumina HiSeq	.	114	0.51	58	NM_144699	16	0.38	6	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																					0.532	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077415.1		NM_144699	
PIK3C2B	5287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	204403713	204403713	+	Silent	SNP	G	G	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr1:204403713G>A	ENST00000367187.3	-	25	4096	c.3540C>T	c.(3538-3540)tcC>tcT	p.S1180S	PIK3C2B_ENST00000424712.2_Silent_p.S1152S|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1180	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGCCAGCGCAGGAGTAGATAA	0.547																																					p.S1180S													.	.			0			c.C3540T												51.0	43.0	46.0					1																	204403713		2203	4300	6503	SO:0001819	synonymous_variant	5287	exon25			AGCGCAGGAGTAG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3540C>T	1.37:g.204403713G>A			Somatic	145	0	0		WXS	Illumina HiSeq	.	105	0.20	21	NM_002646	16	0.19	3	O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	CCDS1446.1																																																																																					0.547	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087965.1		NM_002646	
AKT3	10000	mdanderson.org	37	1	243828083	243828083	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr1:243828083G>T	ENST00000366539.1	-	4	475	c.275C>A	c.(274-276)cCa>cAa	p.P92Q	AKT3_ENST00000336199.5_Missense_Mutation_p.P92Q|AKT3_ENST00000366540.1_Missense_Mutation_p.P92Q|AKT3_ENST00000263826.5_Missense_Mutation_p.P92Q			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CCTTTCCTCTGGAGTATCTAC	0.313																																					p.P92Q													.	.			0			c.C275A												125.0	127.0	126.0					1																	243828083		2202	4299	6501	SO:0001583	missense	10000	exon4			TCCTCTGGAGTAT	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.275C>A	1.37:g.243828083G>T	ENSP00000355497:p.Pro92Gln		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_001206729	36	0.03	1	Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305860	0.81247	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	6.08	6.08	0.98989	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	L	0.46157	1.445	0.80722	D	1	P;P	0.41498	0.752;0.708	B;B	0.42593	0.392;0.381	T	0.39542	-0.9609	10	0.62326	D	0.03	.	20.6647	0.99678	0.0:0.0:1.0:0.0	.	92;92	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	Q	92	ENSP00000336943:P92Q;ENSP00000355498:P92Q;ENSP00000355497:P92Q;ENSP00000263826:P92Q;ENSP00000447820:P92Q	ENSP00000263826:P92Q	P	-	2	0	AKT3	241894706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.753000	0.85153	2.890000	0.99128	0.655000	0.94253	CCA			0.313	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096479.1		NM_181690	
ARHGAP21	57584	mdanderson.org	37	10	24908615	24908615	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr10:24908615G>T	ENST00000396432.2	-	9	2695	c.2209C>A	c.(2209-2211)Cta>Ata	p.L737I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.L524I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	736					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTTCCCTTAGGATGACAGCT	0.428																																					p.L737I													.	.			0			c.C2209A												95.0	89.0	91.0					10																	24908615		2203	4300	6503	SO:0001583	missense	57584	exon9			CCCTTAGGATGAC	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2209C>A	10.37:g.24908615G>T	ENSP00000379709:p.Leu737Ile		Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	92	0.04	4	NM_020824	30	0.00	0	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795709	0.50208	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.1	3.23	0.37069	.	0.074437	0.56097	D	0.000038	T	0.58366	0.2117	M	0.71581	2.175	0.35333	D	0.785831	D;P	0.54047	0.964;0.939	P;P	0.54100	0.742;0.556	T	0.68405	-0.5417	10	0.72032	D	0.01	.	5.2715	0.15627	0.2291:0.0:0.6091:0.1618	.	727;736	F8W9U9;Q5T5U3	.;RHG21_HUMAN	I	737;524;727;737;572	ENSP00000379709:L737I;ENSP00000365604:L524I;ENSP00000365592:L727I;ENSP00000405018:L737I	ENSP00000365604:L524I	L	-	1	2	ARHGAP21	24948621	1.000000	0.71417	0.716000	0.30569	0.970000	0.65996	2.011000	0.40922	1.267000	0.44247	0.655000	0.94253	CTA			0.428	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047229.4		NM_020824	
UBE2D1	7321	mdanderson.org	37	10	60121140	60121140	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr10:60121140G>T	ENST00000373910.4	+	2	294	c.67G>T	c.(67-69)Gct>Tct	p.A23S		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	23					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TCACTGTTCAGCTGGACCTGT	0.398																																					p.A23S													.	.			0			c.G67T												151.0	142.0	145.0					10																	60121140		2203	4300	6503	SO:0001583	missense	7321	exon2			TGTTCAGCTGGAC	BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"""Ubiquitin-conjugating enzymes E2"""	12474	protein-coding gene	gene with protein product		602961	"""stimulator of Fe transport"", ""ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"""	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.67G>T	10.37:g.60121140G>T	ENSP00000363019:p.Ala23Ser		Somatic	133	0	0		WXS	Illumina HiSeq	Phase_I	116	0.04	5	NM_003338	68	0.00	0	A6NLF6|A8K786	Missense_Mutation	SNP	ENST00000373910.4	37	CCDS7252.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432840	0.96150	.	.	ENSG00000072401	ENST00000373910	T	0.56103	0.48	6.07	6.07	0.98685	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.80884	0.4709	H	0.94734	3.575	0.80722	D	1	D	0.57257	0.979	D	0.70227	0.968	D	0.85121	0.0969	10	0.87932	D	0	.	18.1531	0.89682	0.0:0.0:1.0:0.0	.	23	P51668	UB2D1_HUMAN	S	23	ENSP00000363019:A23S	ENSP00000363019:A23S	A	+	1	0	UBE2D1	59791146	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	9.761000	0.98940	2.885000	0.99019	0.655000	0.94253	GCT			0.398	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048143.2		NM_003338	
MUC2	4583	mdanderson.org	37	11	1093324	1093324	+	Missense_Mutation	SNP	G	G	A	rs201143282		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr11:1093324G>A	ENST00000441003.2	+	30	5170	c.5143G>A	c.(5143-5145)Ggc>Agc	p.G1715S	MUC2_ENST00000359061.5_Missense_Mutation_p.G1682S|MUC2_ENST00000333592.6_Missense_Mutation_p.G3S|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	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)	aacacccaccggcacacagac	0.637																																					p.G1715S													MUC2_ENST00000441003,uveal_tract,malignant_melanoma,0,2	MUC2_ENST00000441003	0	2	0			c.G5143A												178.0	224.0	208.0					11																	1093324		1930	3651	5581	SO:0001583	missense	4583	exon30			CCCACCGGCACAC	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.5143G>A	11.37:g.1093324G>A	ENSP00000415183:p.Gly1715Ser		Somatic	27	0.037037037	1		WXS	Illumina HiSeq	Phase_I	21	0.19	4	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	G	7.149	0.583420	0.13749	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.16743	3.11;3.17;2.32	1.64	0.221	0.15283	.	155.122000	0.02480	U	0.088379	T	0.09686	0.0238	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.22556	-1.0213	9	0.19147	T	0.46	.	3.4701	0.07563	0.7575:0.0:0.2425:0.0	.	1715	E7EUV1	.	S	1715;1682;3	ENSP00000415183:G1715S;ENSP00000351956:G1682S;ENSP00000331373:G3S	ENSP00000331373:G3S	G	+	1	0	MUC2	1083324	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.131000	0.10482	-0.042000	0.13535	-1.076000	0.02234	GGC			0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457	
NAT10	55226	broad.mit.edu	37	11	34149080	34149080	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr11:34149080T>C	ENST00000257829.3	+	12	1384	c.1178T>C	c.(1177-1179)aTc>aCc	p.I393T	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.I321T	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	393						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GCTGCCGCCATCCCCCTCCCC	0.502																																					p.I393T													.	NAT10	78		0			c.T1178C												177.0	161.0	167.0					11																	34149080		2202	4298	6500	SO:0001583	missense	55226	exon12			CCGCCATCCCCCT	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1178T>C	11.37:g.34149080T>C	ENSP00000257829:p.Ile393Thr		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	155	0.03	4	NM_024662	88	0.00	0	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.860396	0.91433	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.59638	0.25;0.25	5.99	5.99	0.97316	Domain of unknown function DUF699, exodeoxyribonuclease V alpha chain (1);	0.000000	0.85682	D	0.000000	D	0.84920	0.5579	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90266	0.4304	10	0.87932	D	0	-23.1049	16.4943	0.84223	0.0:0.0:0.0:1.0	.	393	Q9H0A0	NAT10_HUMAN	T	393;321	ENSP00000257829:I393T;ENSP00000433011:I321T	ENSP00000257829:I393T	I	+	2	0	NAT10	34105656	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.581000	0.82535	2.291000	0.77112	0.533000	0.62120	ATC			0.502	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388693.1		NM_024662	
PLCB3	5331	mdanderson.org	37	11	64032973	64032973	+	Splice_Site	SNP	C	C	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr11:64032973C>A	ENST00000540288.1	+	25	3137	c.3034C>A	c.(3034-3036)Cta>Ata	p.L1012I	PLCB3_ENST00000279230.6_Splice_Site_p.L1012I|PLCB3_ENST00000325234.5_Splice_Site_p.L945I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1012					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCCAGGTGCCCTGTGAGTGTC	0.647																																					p.L1012I													.	.			0			c.C3034A												16.0	13.0	14.0					11																	64032973		2167	4239	6406	SO:0001630	splice_region_variant	5331	exon25			GGTGCCCTGTGAG	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3035+1C>A	11.37:g.64032973C>A			Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	38	0.08	3	NM_000932	86	0.00	0	A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368766	0.42003	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.13901	2.55;2.55;2.55	4.9	4.9	0.64082	.	2.237860	0.02054	N	0.050254	T	0.10852	0.0265	N	0.08118	0	0.39295	D	0.964803	B;B	0.27416	0.178;0.044	B;B	0.21708	0.036;0.028	T	0.10019	-1.0648	10	0.37606	T	0.19	.	13.9115	0.63869	0.0:1.0:0.0:0.0	.	945;1012	G5E960;Q01970	.;PLCB3_HUMAN	I	1012;1012;945	ENSP00000279230:L1012I;ENSP00000443631:L1012I;ENSP00000324660:L945I	ENSP00000279230:L1012I	L	+	1	2	PLCB3	63789549	0.507000	0.26146	0.986000	0.45419	0.534000	0.34807	1.518000	0.35877	2.445000	0.82738	0.561000	0.74099	CTA			0.647	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396405.1			Missense_Mutation
SNX32	254122	mdanderson.org	37	11	65617691	65617691	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr11:65617691A>G	ENST00000308342.6	+	4	748	c.323A>G	c.(322-324)gAc>gGc	p.D108G		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	108	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GGCGAGGGGGACAGCTCTGTC	0.602																																					p.D108G													.	.			0			c.A323G												69.0	72.0	71.0					11																	65617691		2201	4297	6498	SO:0001583	missense	254122	exon4			AGGGGGACAGCTC	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.323A>G	11.37:g.65617691A>G	ENSP00000310620:p.Asp108Gly		Somatic	86	0	0		WXS	Illumina HiSeq	Phase_I	59	0.07	4	NM_152760	0		0	Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	A	15.70	2.909710	0.52439	.	.	ENSG00000172803	ENST00000308342	T	0.33654	1.4	4.17	3.01	0.34805	Phox homologous domain (4);	0.598969	0.16016	N	0.233526	T	0.26810	0.0656	L	0.31845	0.965	0.32000	N	0.603534	B	0.23442	0.085	B	0.22152	0.038	T	0.27123	-1.0083	10	0.87932	D	0	-24.0389	8.0503	0.30575	0.8184:0.0:0.0:0.1816	.	108	Q86XE0	SNX32_HUMAN	G	108	ENSP00000310620:D108G	ENSP00000310620:D108G	D	+	2	0	SNX32	65374267	1.000000	0.71417	0.207000	0.23584	0.967000	0.64934	5.535000	0.67173	0.628000	0.30357	0.459000	0.35465	GAC			0.602	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250295.3		NM_152760	
TCIRG1	10312	mdanderson.org	37	11	67818021	67818021	+	Silent	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr11:67818021G>T	ENST00000265686.3	+	19	2412	c.2304G>T	c.(2302-2304)gtG>gtT	p.V768V	RP11-802E16.3_ENST00000526897.1_RNA|TCIRG1_ENST00000530802.1_Intron|TCIRG1_ENST00000532635.1_Silent_p.V552V|RP11-802E16.3_ENST00000529934.1_RNA|CHKA_ENST00000533728.1_5'Flank|RP11-802E16.3_ENST00000534517.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	768					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						AGGTGGGCGTGGCGGCTGTGG	0.657																																					p.V768V													.	.			0			c.G2304T												95.0	110.0	105.0					11																	67818021		2200	4294	6494	SO:0001819	synonymous_variant	10312	exon19			GGGCGTGGCGGCT	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2304G>T	11.37:g.67818021G>T			Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_006019	35	0.00	0	O75877|Q8WVC5	Silent	SNP	ENST00000265686.3	37	CCDS8177.1																																																																																					0.657	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394305.1		NM_006019	
PAK1	5058	mdanderson.org	37	11	77085377	77085377	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr11:77085377G>T	ENST00000356341.3	-	5	1004	c.473C>A	c.(472-474)gCc>gAc	p.A158D	PAK1_ENST00000530617.1_Missense_Mutation_p.A158D|PAK1_ENST00000278568.4_Missense_Mutation_p.A158D|PAK1_ENST00000528203.1_Missense_Mutation_p.A60D	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	158	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					ACTTACCAAGGCATTAGAAGA	0.413																																					p.A158D													.	.			0			c.C473A												121.0	114.0	116.0					11																	77085377		2200	4292	6492	SO:0001583	missense	5058	exon5			ACCAAGGCATTAG	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.473C>A	11.37:g.77085377G>T	ENSP00000348696:p.Ala158Asp		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	52	0.06	3	NM_001128620	91	0.00	0	O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	ENST00000356341.3	37	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924877	0.34002	.	.	ENSG00000149269	ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	T;T;T;T	0.71341	-0.53;-0.56;-0.56;-0.53	5.45	5.45	0.79879	.	0.273140	0.41823	D	0.000820	T	0.63283	0.2498	L	0.43152	1.355	0.35672	D	0.813386	B;B;B;B	0.29805	0.023;0.044;0.013;0.257	B;B;B;B	0.25614	0.014;0.017;0.017;0.062	T	0.66528	-0.5901	10	0.25106	T	0.35	.	17.48	0.87670	0.0:0.0:1.0:0.0	.	60;158;158;158	E9PM17;B3KNX7;Q13153;Q13153-2	.;.;PAK1_HUMAN;.	D	158;158;158;60	ENSP00000348696:A158D;ENSP00000433423:A158D;ENSP00000278568:A158D;ENSP00000433211:A60D	ENSP00000278568:A158D	A	-	2	0	PAK1	76763025	0.998000	0.40836	1.000000	0.80357	0.743000	0.42351	4.259000	0.58828	2.535000	0.85469	0.563000	0.77884	GCC			0.413	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382083.2		NM_002576	
GXYLT1	283464	hgsc.bcm.edu	37	12	42481670	42481671	+	Missense_Mutation	DNP	CA	CA	TG	rs202200134|rs200973030		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr12:42481670_42481671CA>TG	ENST00000398675.3	-	8	1472_1473	c.1240_1241TG>CA	c.(1240-1242)TGt>CAt	p.C414H	GXYLT1_ENST00000280876.6_Missense_Mutation_p.C383H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	414					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AATTTTTCCACAGTATGTATGC	0.312																																					p.C414H													Q8IXV1_HUMAN,NS,carcinoma,0,4	Q8IXV1_HUMAN	0	4	0			c.T1240C																																									SO:0001583	missense	283464	exon8			TTTCCACAGTATG	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1240_1241delinsTG	12.37:g.42481670_42481671delinsTG	ENSP00000381666:p.Cys414His		Somatic	95	0.0105263158	1		WXS	Illumina HiSeq	.	74	0.05	4	NM_173601	54	0.00	0	B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	DNP	ENST00000398675.3	37	CCDS41772.1																																																																																					0.312	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403778.1		XM_290597	
MYO16	23026	mdanderson.org	37	13	109445885	109445885	+	Missense_Mutation	SNP	G	G	T	rs537057276	byFrequency	TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr13:109445885G>T	ENST00000357550.2	+	5	613	c.572G>T	c.(571-573)cGc>cTc	p.R191L	MYO16_ENST00000251041.5_Missense_Mutation_p.R191L|MYO16_ENST00000356711.2_Missense_Mutation_p.R191L	NM_001198950.1	NP_001185879.1			myosin XVI									p.R191H(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACCTCACTGCGCCAGATGAAG	0.443													G|||	2	0.000399361	0.0	0.0	5008	,	,		14540	0.0		0.0	False		,,,				2504	0.002				p.R213L													MYO16,rectum,carcinoma,0,1	MYO16	0	1	1	Substitution - Missense(1)	large_intestine(1)	c.G638T												129.0	122.0	125.0					13																	109445885		2203	4300	6503	SO:0001583	missense	23026	exon6			CACTGCGCCAGAT		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.572G>T	13.37:g.109445885G>T	ENSP00000350160:p.Arg191Leu		Somatic	91	0	0		WXS	Illumina HiSeq	Phase_I	55	0.05	3	NM_001198950	0		0		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478800	0.63849	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.52295	0.67;0.67;0.67	5.76	3.13	0.36017	Ankyrin repeat-containing domain (3);	0.173228	0.27447	U	0.019329	T	0.58452	0.2123	M	0.71581	2.175	0.80722	D	1	D;D	0.59767	0.984;0.986	P;P	0.57846	0.736;0.828	T	0.55730	-0.8095	9	.	.	.	.	9.1214	0.36788	0.2372:0.0:0.7628:0.0	.	191;191	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	L	191	ENSP00000349145:R191L;ENSP00000350160:R191L;ENSP00000251041:R191L	.	R	+	2	0	MYO16	108243886	0.996000	0.38824	0.993000	0.49108	0.761000	0.43186	1.317000	0.33631	0.373000	0.24621	-0.218000	0.12543	CGC			0.443	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045746.1		NM_015011	
BMS1P18	414763	broad.mit.edu	37	14	19890158	19890160	+	lincRNA	DEL	GCC	GCC	-	rs112695101|rs149570903	byFrequency	TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	GCC	GCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr14:19890158_19890160delGCC	ENST00000552602.1	-	0	293																											GGCAGCAGCGGCCGCCAAGCATG	0.729														1183	0.236222	0.1051	0.3415	5008	,	,		25129	0.3323		0.1769	False		,,,				2504	0.3006				.													.	.			0			.																																											0	.			GCAGCGGCCGCCA																													14.37:g.19890161_19890163delGCC			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	7	0.43	3	.	0		0		RNA	DEL	ENST00000552602.1	37																																																																																						0.729	CTD-2314B22.3-003	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000409412.1			
FOXA1	3169	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	14	38064138	38064138	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr14:38064138C>G	ENST00000250448.2	-	1	101	c.40G>C	c.(40-42)Gac>Cac	p.D14H	FOXA1_ENST00000545425.2_5'Flank|FOXA1_ENST00000540786.1_Intron	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	14					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTGTTCCAGTCGCTGGTTTCA	0.677																																					p.D14H													.	.			0			c.G40C												109.0	81.0	90.0					14																	38064138		2203	4300	6503	SO:0001583	missense	3169	exon1			TCCAGTCGCTGGT	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.40G>C	14.37:g.38064138C>G	ENSP00000250448:p.Asp14His		Somatic	106	0	0		WXS	Illumina HiSeq	.	79	0.10	8	NM_004496	70	0.10	7	B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211291	0.39102	.	.	ENSG00000129514	ENST00000250448	D	0.93133	-3.17	3.7	3.7	0.42460	.	0.561676	0.17673	N	0.165906	D	0.94308	0.8171	L	0.55990	1.75	0.80722	D	1	D	0.65815	0.995	P	0.56042	0.79	D	0.94716	0.7896	10	0.87932	D	0	.	15.0489	0.71850	0.0:1.0:0.0:0.0	.	14	P55317	FOXA1_HUMAN	H	14	ENSP00000250448:D14H	ENSP00000250448:D14H	D	-	1	0	FOXA1	37133889	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.321000	0.79088	1.608000	0.50180	0.289000	0.19496	GAC			0.677	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000276735.1			
HIF1A	3091	broad.mit.edu	37	14	62193436	62193436	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr14:62193436A>G	ENST00000337138.4	+	5	735	c.470A>G	c.(469-471)aAg>aGg	p.K157R	HIF1A_ENST00000394997.1_Missense_Mutation_p.K158R|HIF1A_ENST00000323441.6_Missense_Mutation_p.K157R|HIF1A_ENST00000557206.1_3'UTR|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Missense_Mutation_p.K181R|HIF1A_ENST00000557538.1_Missense_Mutation_p.K98R	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	157	Interaction with TSGA10. {ECO:0000250}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	CTTGTGAAAAAGGGTAAAGAA	0.348																																					p.K181R													.	HIF1A	120		0			c.A542G												77.0	74.0	75.0					14																	62193436		2203	4300	6503	SO:0001583	missense	3091	exon5			TGAAAAAGGGTAA	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.470A>G	14.37:g.62193436A>G	ENSP00000338018:p.Lys157Arg		Somatic	292	0	0		WXS	Illumina HiSeq	Phase_I	288	0.01	4	NM_001243084	305	0.00	0	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	A	32	5.154229	0.94645	.	.	ENSG00000100644	ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.92	5.92	0.95590	PAS (1);	0.216882	0.46758	D	0.000266	T	0.42765	0.1217	M	0.84846	2.72	0.80722	D	1	P;P;P	0.50369	0.934;0.934;0.934	P;P;P	0.55965	0.788;0.788;0.788	T	0.46428	-0.9192	10	0.87932	D	0	.	16.3636	0.83296	1.0:0.0:0.0:0.0	.	158;157;157	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	R	98;157;158;157;98;181	ENSP00000338018:K157R;ENSP00000378446:K158R;ENSP00000323326:K157R;ENSP00000451696:K98R;ENSP00000437955:K181R	ENSP00000323326:K157R	K	+	2	0	HIF1A	61263189	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.109000	0.94291	2.267000	0.75376	0.528000	0.53228	AAG			0.348	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000276977.2		NM_001530	
CCPG1	9236	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	55669303	55669303	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr15:55669303C>A	ENST00000310958.6	-	5	596	c.298G>T	c.(298-300)Gcc>Tcc	p.A100S	CCPG1_ENST00000425574.3_Missense_Mutation_p.A100S|CCPG1_ENST00000569205.1_Missense_Mutation_p.A100S|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.A100S	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	100	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TCATCACTGGCAGTTCCAATA	0.368																																					p.A100S													.	.			0			c.G298T												130.0	118.0	122.0					15																	55669303		1838	4101	5939	SO:0001583	missense	9236	exon5			CACTGGCAGTTCC	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.298G>T	15.37:g.55669303C>A	ENSP00000311656:p.Ala100Ser		Somatic	240	0	0		WXS	Illumina HiSeq	.	150	0.07	10	NM_020739	53	0.06	3	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745296	0.49151	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.22743	3.98;3.98;1.94	5.31	3.16	0.36331	.	0.419915	0.27000	N	0.021423	T	0.06872	0.0175	N	0.03608	-0.345	0.25084	N	0.990905	B;P;B	0.35774	0.102;0.519;0.102	B;B;B	0.34385	0.049;0.181;0.079	T	0.29243	-1.0018	10	0.10111	T	0.7	.	6.133	0.20215	0.0:0.6606:0.0:0.3394	.	100;100;100	A8K9T0;Q9ULG6-3;Q9ULG6	.;.;CCPG1_HUMAN	S	100	ENSP00000311656:A100S;ENSP00000403400:A100S;ENSP00000415128:A100S	ENSP00000311656:A100S	A	-	1	0	DYX1C1	53456595	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.758000	0.26447	1.199000	0.43173	0.650000	0.86243	GCC			0.368	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000419850.1		NM_004748	
ZNF609	23060	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	64967246	64967247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr15:64967246_64967247insA	ENST00000326648.3	+	4	2321_2322	c.2193_2194insA	c.(2194-2196)aaafs	p.K732fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	732	Poly-Lys.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAGAAAGACAAAAAAAAGAA	0.49																																					p.D731fs													.	ZNF609	106		1	Deletion - Frameshift(1)	large_intestine(1)	c.2193_2194insA																																									SO:0001589	frameshift_variant	23060	exon4			GAAAGACAAAAAA	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2201dupA	15.37:g.64967254_64967254dupA	ENSP00000316527:p.Lys732fs		Somatic	64	0	0		WXS	Illumina HiSeq	.	41	0.32	13	NM_015042	18	0.00	0	Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	CCDS32270.1																																																																																					0.490	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418130.1		XM_042833	
ZNF609	23060	mdanderson.org	37	15	64967320	64967320	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr15:64967320G>A	ENST00000326648.3	+	4	2395	c.2267G>A	c.(2266-2268)gGc>gAc	p.G756D		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	756						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGAGGAAGGCAAAAGCCCA	0.488																																					p.G756D													.	.			0			c.G2267A												82.0	92.0	89.0					15																	64967320		2203	4297	6500	SO:0001583	missense	23060	exon4			AGGAAGGCAAAAG	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2267G>A	15.37:g.64967320G>A	ENSP00000316527:p.Gly756Asp		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	53	0.06	3	NM_015042	24	0.00	0	Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969109	0.53614	.	.	ENSG00000180357	ENST00000326648	T	0.52526	0.66	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	D	0.65323	0.934	T	0.52540	-0.8562	10	0.19147	T	0.46	-22.1903	20.2422	0.98381	0.0:0.0:1.0:0.0	.	756	O15014	ZN609_HUMAN	D	756	ENSP00000316527:G756D	ENSP00000316527:G756D	G	+	2	0	ZNF609	62754373	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	6.677000	0.74503	2.782000	0.95742	0.655000	0.94253	GGC			0.488	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418130.1		XM_042833	
IFT140	9742	mdanderson.org	37	16	1634259	1634259	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr16:1634259G>T	ENST00000426508.2	-	11	1681	c.1318C>A	c.(1318-1320)Ctg>Atg	p.L440M	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	440					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TCGGTGCGCAGGCTGTGTGCG	0.632																																					p.L440M													.	.			0			c.C1318A												49.0	40.0	43.0					16																	1634259		2199	4300	6499	SO:0001583	missense	9742	exon11			TGCGCAGGCTGTG	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1318C>A	16.37:g.1634259G>T	ENSP00000406012:p.Leu440Met		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_014714	43	0.00	0	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	6.112	0.388911	0.11581	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.66815	-0.23	5.51	2.46	0.29980	.	0.075134	0.56097	D	0.000033	T	0.79684	0.4488	M	0.82056	2.57	0.49483	D	0.999791	D;D	0.89917	0.999;1.0	D;D	0.80764	0.976;0.994	T	0.79011	-0.1977	10	0.62326	D	0.03	.	10.3123	0.43716	0.2161:0.0:0.7839:0.0	.	440;165	Q96RY7;B4DR58	IF140_HUMAN;.	M	440	ENSP00000406012:L440M	ENSP00000380562:L440M	L	-	1	2	IFT140	1574260	1.000000	0.71417	0.999000	0.59377	0.016000	0.09150	4.485000	0.60279	0.369000	0.24510	-0.136000	0.14681	CTG			0.632	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250438.2		NM_014714	
MAZ	4150	mdanderson.org	37	16	29818801	29818801	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr16:29818801C>A	ENST00000322945.6	+	2	860	c.695C>A	c.(694-696)cCc>cAc	p.P232H	MAZ_ENST00000566906.2_Intron|AC009133.14_ENST00000563806.1_RNA|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000569978.1_5'Flank|MAZ_ENST00000219782.6_Missense_Mutation_p.P232H|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000545521.1_Missense_Mutation_p.P209H|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568544.1_5'Flank|MAZ_ENST00000568282.1_5'Flank|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Intron	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	232					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ACCATGGTGCCCCTGAGCCTC	0.721																																					p.P232H	Colon(72;875 1167 15364 30899 37091)												.	.			0			c.C695A												18.0	22.0	20.0					16																	29818801		1933	4102	6035	SO:0001583	missense	4150	exon2			TGGTGCCCCTGAG	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.695C>A	16.37:g.29818801C>A	ENSP00000313362:p.Pro232His		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	61	0.05	3	NM_002383	612	0.00	1	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075213	0.36662	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	T;T;T	0.14640	2.51;2.49;2.57	3.02	1.92	0.25849	.	1.828040	0.03340	U	0.194657	T	0.19765	0.0475	N	0.19112	0.55	0.80722	D	1	D;D;D	0.64830	0.976;0.994;0.986	P;D;P	0.64042	0.549;0.921;0.79	T	0.52298	-0.8594	10	0.12103	T	0.63	-7.83	9.229	0.37425	0.0:0.7754:0.2246:0.0	.	209;232;232	C6G496;P56270;G5E927	.;MAZ_HUMAN;.	H	209;232;232;8	ENSP00000443956:P209H;ENSP00000313362:P232H;ENSP00000219782:P232H	ENSP00000219782:P232H	P	+	2	0	MAZ	29726302	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	2.689000	0.46993	1.427000	0.47276	0.289000	0.19496	CCC			0.721	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000435536.1		NM_002383	
RP11-252A24.2	0	bcgsc.ca	37	16	74372609	74372609	+	RNA	SNP	G	G	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr16:74372609G>A	ENST00000429810.2	-	0	1587																											AAAAAAAAAGGAGCAAAAATG	0.403																																					.													.	.			0			.																																											0	.			AAAAAGGAGCAAA																													16.37:g.74372609G>A			Somatic	128	0.0234375	3		WXS	Illumina HiSeq	Phase_1	107	0.05	5	.	0		0		RNA	SNP	ENST00000429810.2	37																																																																																						0.403	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene		OTTHUMT00000434683.1			
PIEZO1	9780	broad.mit.edu;mdanderson.org	37	16	88800398	88800398	+	Missense_Mutation	SNP	G	G	C	rs144777557|rs144269709|rs62639697	byFrequency	TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr16:88800398G>C	ENST00000301015.9	-	17	2491	c.2245C>G	c.(2245-2247)Cag>Gag	p.Q749E	RP5-1142A6.2_ENST00000440406.2_RNA|RP5-1142A6.2_ENST00000567968.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	749					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.Q749delQ(1)|p.E756_D757insE(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						tcctcctcctgctgctgctgc	0.667																																					p.Q749E													.	PIEZO1	79		2	Insertion - In frame(1)|Deletion - In frame(1)	prostate(1)|breast(1)	c.C2245G												8.0	10.0	9.0					16																	88800398		685	1572	2257	SO:0001583	missense	9780	exon17			CCTCCTGCTGCTG	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.2245C>G	16.37:g.88800398G>C	ENSP00000301015:p.Gln749Glu		Somatic	74	0.0135135135	1		WXS	Illumina HiSeq	Phase_I	59	0.05	3	NM_001142864	27	0.04	1	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	CCDS54058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.005|0.005	-2.233254|-2.233254	0.00277|0.00277	.|.	.|.	ENSG00000103335|ENSG00000103335	ENST00000451779|ENST00000301015	.|T	.|0.40756	.|1.02	0.844|0.844	0.844|0.844	0.18943|0.18943	.|.	.|3.384400	.|0.02084	.|N	.|0.052613	T|T	0.19604|0.19604	0.0471|0.0471	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.38436|0.38436	-0.9661|-0.9661	5|10	.|0.02654	.|T	.|1	.|.	7.2811|7.2811	0.26312|0.26312	0.0:0.4248:0.5752:0.0|0.0:0.4248:0.5752:0.0	rs62639697|rs62639697	.|749	.|Q92508	.|PIEZ1_HUMAN	G|E	694|749	.|ENSP00000301015:Q749E	.|ENSP00000301015:Q749E	A|Q	-|-	2|1	0|0	FAM38A|FAM38A	87327899|87327899	0.000000|0.000000	0.05858|0.05858	0.092000|0.092000	0.20876|0.20876	0.022000|0.022000	0.10575|0.10575	-0.494000|-0.494000	0.06451|0.06451	-1.966000|-1.966000	0.01009|0.01009	-1.954000|-1.954000	0.00483|0.00483	GCA|CAG			0.667	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000345699.4		NM_014745	
CAMKK1	84254	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	3779556	3779556	+	Frame_Shift_Del	DEL	G	G	-	rs370912763		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr17:3779556delG	ENST00000348335.2	-	10	1105	c.957delC	c.(955-957)cccfs	p.P319fs	CAMKK1_ENST00000381771.2_Frame_Shift_Del_p.P357fs|CAMKK1_ENST00000158166.5_Frame_Shift_Del_p.P357fs|CAMKK1_ENST00000381769.2_Frame_Shift_Del_p.P346fs	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		AAATGGCCTCGGGGGCCATGA	0.627																																					p.E358fs													CAMKK1_ENST00000158166,colon,carcinoma,0,2	CAMKK1	70		0			c.1072delG												63.0	54.0	57.0					17																	3779556		2203	4300	6503	SO:0001589	frameshift_variant	84254	exon11			GGCCTCGGGGGCC	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.957delC	17.37:g.3779556delG	ENSP00000323118:p.Pro319fs		Somatic	105	0	0		WXS	Illumina HiSeq	.	94	0.37	35	NM_172207	26	0.00	0	Q9BQH3	Frame_Shift_Del	DEL	ENST00000348335.2	37	CCDS11038.1																																																																																					0.627	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207456.1		NM_032294, NM_172206, NM_172207	
POTEC	388468	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	18	14542810	14542810	+	Silent	SNP	G	G	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr18:14542810G>A	ENST00000358970.5	-	1	335	c.336C>T	c.(334-336)agC>agT	p.S112S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	112										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCTTGCCGCTCCCCCTGC	0.592																																					p.S112S													POTEC,NS,carcinoma,0,1	POTEC	0	1	0			c.C336T												32.0	42.0	39.0					18																	14542810		692	1590	2282	SO:0001819	synonymous_variant	388468	exon1			CTTGCCGCTCCCC	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.336C>T	18.37:g.14542810G>A			Somatic	481	0	0		WXS	Illumina HiSeq	.	245	0.09	21	NM_001137671	0		0		Silent	SNP	ENST00000358970.5	37	CCDS45835.1																																																																																					0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000371179.1		XM_496269	
CELF4	56853	mdanderson.org	37	18	34846535	34846535	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr18:34846535G>T	ENST00000591282.1	-	9	1125	c.1126C>A	c.(1126-1128)Ctg>Atg	p.L376M	CELF4_ENST00000420428.2_Missense_Mutation_p.L376M|CELF4_ENST00000361795.5_Missense_Mutation_p.L374M|CELF4_ENST00000601019.1_Missense_Mutation_p.L374M|CELF4_ENST00000412753.1_Missense_Mutation_p.L375M|CELF4_ENST00000334919.5_Missense_Mutation_p.L366M|CELF4_ENST00000588597.1_Missense_Mutation_p.L365M|CELF4_ENST00000591287.1_Missense_Mutation_p.L375M|CELF4_ENST00000603232.1_Missense_Mutation_p.L375M			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	376					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCCTGCTGCAGGGGGTCCGCG	0.647																																					p.L376M													.	.			0			c.C1126A												49.0	41.0	43.0					18																	34846535		2202	4297	6499	SO:0001583	missense	56853	exon9			GCTGCAGGGGGTC	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1126C>A	18.37:g.34846535G>T	ENSP00000464794:p.Leu376Met		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_020180	1	0.00	0	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835293	0.71373	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T	0.78924	-0.38;-1.22	4.63	4.63	0.57726	.	0.072732	0.56097	D	0.000033	D	0.85852	0.5793	M	0.83384	2.64	0.49130	D	0.999754	D;D;D;D;D;D	0.76494	0.999;0.999;0.997;0.998;0.997;0.995	D;D;D;D;D;D	0.79784	0.993;0.949;0.991;0.943;0.976;0.947	D	0.86435	0.1763	10	0.87932	D	0	-16.0568	5.48	0.16719	0.2423:0.0:0.7577:0.0	.	374;365;101;366;375;376	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;.;CELF4_HUMAN	M	376;375;374;366	ENSP00000406823:L375M;ENSP00000335631:L366M	ENSP00000335631:L366M	L	-	1	2	CELF4	33100533	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.119000	0.57891	2.402000	0.81655	0.655000	0.94253	CTG			0.647	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000440892.1		NM_020180	
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	9086806	9086808	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:9086806_9086808delCTT	ENST00000397910.4	-	1	5210_5212	c.5007_5009delAAG	c.(5005-5010)agaagt>agt	p.R1669del		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1669	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTGTAGAACTTCTTCTTTCCA	0.517																																					p.1670_1670del													.	MUC16	4315		0			c.5008_5010del																																									SO:0001651	inframe_deletion	94025	exon1			GTAGAACTTCTTC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5007_5009delAAG	19.37:g.9086812_9086814delCTT	ENSP00000381008:p.Arg1669del		Somatic	144	0	0		WXS	Illumina HiSeq	.	101	0.15	15	NM_024690	0		0	Q6ZQW5|Q96RK2	In_Frame_Del	DEL	ENST00000397910.4	37	CCDS54212.1																																																																																					0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402806.1		NM_024690	
TYK2	7297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	10488908	10488908	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:10488908G>A	ENST00000525621.1	-	3	656	c.175C>T	c.(175-177)Cac>Tac	p.H59Y	TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Missense_Mutation_p.H59Y|TYK2_ENST00000264818.6_Missense_Mutation_p.H59Y	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	59	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGTGCAATGTGGATGCAGACT	0.617																																					p.H59Y													.	.			0			c.C175T												86.0	70.0	75.0					19																	10488908		2203	4299	6502	SO:0001583	missense	7297	exon3			CAATGTGGATGCA		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.175C>T	19.37:g.10488908G>A	ENSP00000431885:p.His59Tyr		Somatic	89	0	0		WXS	Illumina HiSeq	.	88	0.19	17	NM_003331	51	0.12	6	Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	g	3.854	-0.031240	0.07543	.	.	ENSG00000105397	ENST00000525621;ENST00000264818;ENST00000529370;ENST00000531836;ENST00000530829	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;1.43	4.66	3.48	0.39840	Band 4.1 domain (1);FERM domain (1);	0.244211	0.26719	N	0.022854	T	0.64023	0.2561	M	0.62723	1.935	0.09310	N	1	B;B	0.22276	0.067;0.002	B;B	0.14578	0.011;0.002	T	0.57087	-0.7871	10	0.46703	T	0.11	-17.9389	8.7805	0.34789	0.1178:0.0:0.8822:0.0	.	59;59	E9PPF2;P29597	.;TYK2_HUMAN	Y	59	ENSP00000431885:H59Y;ENSP00000264818:H59Y;ENSP00000432728:H59Y;ENSP00000436175:H59Y;ENSP00000436826:H59Y	ENSP00000264818:H59Y	H	-	1	0	TYK2	10349908	0.821000	0.29204	0.001000	0.08648	0.034000	0.12701	0.936000	0.28938	0.935000	0.37341	0.436000	0.28706	CAC			0.617	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389443.1			
S1PR5	53637	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	10624996	10624996	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:10624996C>T	ENST00000439028.3	-	2	817	c.692G>A	c.(691-693)gGg>gAg	p.G231E	S1PR5_ENST00000333430.4_Missense_Mutation_p.G231E	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	231					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	CCCCGCAGTCCCGGGCCGTGC	0.711																																					p.G231E													.	.			0			c.G692A												6.0	8.0	7.0					19																	10624996		2096	4082	6178	SO:0001583	missense	53637	exon2			GCAGTCCCGGGCC	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.692G>A	19.37:g.10624996C>T	ENSP00000416915:p.Gly231Glu		Somatic	40	0	0		WXS	Illumina HiSeq	.	41	0.49	20	NM_030760	7	0.57	4	Q6NW11	Missense_Mutation	SNP	ENST00000439028.3	37	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	C	8.699	0.909182	0.17833	.	.	ENSG00000180739	ENST00000439028;ENST00000333430	T;T	0.70986	-0.53;-0.53	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	1.568910	0.05911	U	0.631606	T	0.68641	0.3023	L	0.55103	1.725	0.09310	N	1	B	0.23442	0.085	B	0.28638	0.092	T	0.56884	-0.7905	10	0.41790	T	0.15	.	10.1255	0.42648	0.0:1.0:0.0:0.0	.	231	Q9H228	S1PR5_HUMAN	E	231	ENSP00000416915:G231E;ENSP00000328472:G231E	ENSP00000328472:G231E	G	-	2	0	S1PR5	10485996	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.006000	0.12833	1.802000	0.52723	0.491000	0.48974	GGG			0.711	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452015.1		NM_030760	
CACNA1A	773	mdanderson.org	37	19	13443691	13443691	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:13443691G>T	ENST00000360228.5	-	9	1246	c.1247C>A	c.(1246-1248)cCc>cAc	p.P416H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P416H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	416					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCATCAAAGGGATGCCTCTG	0.562																																					p.P416H													.	.			0			c.C1247A												78.0	77.0	78.0					19																	13443691		1892	4106	5998	SO:0001583	missense	773	exon9			TCAAAGGGATGCC	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1247C>A	19.37:g.13443691G>T	ENSP00000353362:p.Pro416His		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_001127222	0		0	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645792	0.47258	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.93859	-3.3	5.28	5.28	0.74379	.	1.224310	0.05947	N	0.638171	D	0.95828	0.8642	L	0.42008	1.315	0.44241	D	0.997081	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.956	D	0.89805	0.3978	10	0.42905	T	0.14	.	17.7234	0.88358	0.0:0.0:1.0:0.0	.	416;416	O00555;Q9NS88	CAC1A_HUMAN;.	H	416	ENSP00000353362:P416H	ENSP00000317661:P416H	P	-	2	0	CACNA1A	13304691	1.000000	0.71417	0.991000	0.47740	0.552000	0.35366	6.244000	0.72391	2.473000	0.83533	0.561000	0.74099	CCC			0.562	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000104062.2		NM_000068	
MAP3K10	4294	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	19	40711055	40711055	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:40711055G>T	ENST00000253055.3	+	4	1328	c.1040G>T	c.(1039-1041)cGg>cTg	p.R347L	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	347	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCCCACGGGCGGCCAGATTTC	0.607																																					p.R347L													.	.			0			c.G1040T												81.0	87.0	85.0					19																	40711055		2203	4300	6503	SO:0001583	missense	4294	exon4			ACGGGCGGCCAGA	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1040G>T	19.37:g.40711055G>T	ENSP00000253055:p.Arg347Leu		Somatic	154	0	0		WXS	Illumina HiSeq	.	105	0.05	5	NM_002446	47	0.00	0	Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103208	0.94245	.	.	ENSG00000130758	ENST00000253055	D	0.99264	-5.65	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062472	0.64402	D	0.000010	D	0.99645	0.9869	H	0.97707	4.06	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.97583	1.0112	10	0.87932	D	0	.	16.5687	0.84605	0.0:0.0:1.0:0.0	.	347	Q02779	M3K10_HUMAN	L	347	ENSP00000253055:R347L	ENSP00000253055:R347L	R	+	2	0	MAP3K10	45402895	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.698000	0.98700	2.564000	0.86499	0.585000	0.79938	CGG			0.607	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462552.1		NM_002446	
SYMPK	8189	broad.mit.edu	37	19	46355581	46355581	+	Silent	SNP	G	G	T	rs371606879		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:46355581G>T	ENST00000245934.7	-	5	532	c.288C>A	c.(286-288)atC>atA	p.I96I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	96	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATGCCTCCTCGATGAAGCCGA	0.567																																					p.I96I													.	SYMPK	104		0			c.C288A												160.0	157.0	158.0					19																	46355581		2014	4188	6202	SO:0001819	synonymous_variant	8189	exon5			CTCCTCGATGAAG	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.288C>A	19.37:g.46355581G>T			Somatic	174	0	0		WXS	Illumina HiSeq	Phase_I	96	0.03	3	NM_004819	192	0.00	0	O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	CCDS12676.2																																																																																					0.567	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316581.1		NM_004819	
MYH14	79784	mdanderson.org	37	19	50728869	50728869	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr19:50728869G>T	ENST00000596571.1	+	5	721	c.721G>T	c.(721-723)Gcc>Tcc	p.A241S	MYH14_ENST00000376970.2_Missense_Mutation_p.A241S|MYH14_ENST00000601313.1_Missense_Mutation_p.A249S|MYH14_ENST00000440075.2_Missense_Mutation_p.A249S|MYH14_ENST00000262269.8_Missense_Mutation_p.A249S|MYH14_ENST00000598205.1_Missense_Mutation_p.A249S|MYH14_ENST00000425460.1_Missense_Mutation_p.A249S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	241	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTGCTTCAGGCCAACCCCAT	0.617																																					p.A249S													.	.			0			c.G745T												24.0	27.0	26.0					19																	50728869		2203	4300	6503	SO:0001583	missense	79784	exon7			CTTCAGGCCAACC	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.721G>T	19.37:g.50728869G>T	ENSP00000472819:p.Ala241Ser		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	38	0.08	3	NM_001077186	25	0.00	0	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049570	0.75846	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.38	4.38	0.52667	Myosin head, motor domain (2);	.	.	.	.	T	0.79446	0.4447	L	0.51422	1.61	0.80722	D	1	D;P;P	0.76494	0.999;0.839;0.924	D;P;D	0.70227	0.968;0.898;0.922	T	0.81593	-0.0862	9	0.87932	D	0	.	14.8092	0.69982	0.0:0.0:1.0:0.0	.	249;241;249	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	S	241;249;241;249;241;249	ENSP00000406273:A249S;ENSP00000366169:A241S;ENSP00000407879:A249S;ENSP00000262269:A249S	ENSP00000262269:A249S	A	+	1	0	MYH14	55420681	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	7.321000	0.79088	2.433000	0.82419	0.637000	0.83480	GCC			0.617	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000464710.2		NM_024729	
ANKRD36BP2	645784	broad.mit.edu	37	2	89100923	89100924	+	RNA	INS	-	-	G	rs369765448		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr2:89100923_89100924insG	ENST00000393525.3	+	0	1397_1398									ankyrin repeat domain 36B pseudogene 2																		AATATAAAAAAGATACATATGA	0.282																																					.													.	.			0			.																																											0	.			TAAAAAAGATACA			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100924_89100924dupG			Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	9	0.33	3	.	0		0		RNA	INS	ENST00000393525.3	37																																																																																						0.282	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000323523.1			
RANBP2	5903	mdanderson.org	37	2	109380793	109380793	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr2:109380793G>T	ENST00000283195.6	+	20	3924	c.3798G>T	c.(3796-3798)tgG>tgT	p.W1266C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1266	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTTTGTATGGCATGCCCTTG	0.383																																					p.W1266C													.	.			0			c.G3798T												79.0	79.0	79.0					2																	109380793		2203	4300	6503	SO:0001583	missense	5903	exon20			TGTATGGCATGCC	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3798G>T	2.37:g.109380793G>T	ENSP00000283195:p.Trp1266Cys		Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_006267	62	0.00	0	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446644	0.63178	.	.	ENSG00000153201	ENST00000283195	T	0.49720	0.77	5.26	5.26	0.73747	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.79275	0.4418	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86005	0.1497	9	0.87932	D	0	-6.7166	18.8675	0.92298	0.0:0.0:1.0:0.0	.	1266	P49792	RBP2_HUMAN	C	1266	ENSP00000283195:W1266C	ENSP00000283195:W1266C	W	+	3	0	RANBP2	108747225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.430000	0.82344	0.650000	0.86243	TGG			0.383	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253594.1		NM_006267	
CNTNAP5	129684	mdanderson.org	37	2	125281916	125281916	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr2:125281916G>T	ENST00000431078.1	+	9	1725	c.1361G>T	c.(1360-1362)aGc>aTc	p.S454I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	454	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACTCGGTTAGCATCAACGCC	0.527																																					p.S454I													CNTNAP5,rectum,carcinoma,0,2	CNTNAP5	0	2	0			c.G1361T												77.0	82.0	80.0					2																	125281916		2080	4221	6301	SO:0001583	missense	129684	exon9			CGGTTAGCATCAA	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1361G>T	2.37:g.125281916G>T	ENSP00000399013:p.Ser454Ile		Somatic	111	0.009009009	1		WXS	Illumina HiSeq	Phase_I	97	0.04	4	NM_130773	0		0	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579064	0.46006	.	.	ENSG00000155052	ENST00000431078	T	0.78595	-1.19	5.95	4.16	0.48862	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.095877	0.45361	D	0.000365	T	0.76076	0.3937	L	0.46741	1.465	0.45307	D	0.998309	P	0.52316	0.952	P	0.54856	0.762	T	0.74615	-0.3606	10	0.41790	T	0.15	.	4.6813	0.12736	0.2261:0.169:0.6049:0.0	.	454	Q8WYK1	CNTP5_HUMAN	I	454	ENSP00000399013:S454I	ENSP00000399013:S454I	S	+	2	0	CNTNAP5	124998386	1.000000	0.71417	0.997000	0.53966	0.345000	0.29048	1.695000	0.37763	1.542000	0.49330	-0.123000	0.14984	AGC			0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330864.3			
TANK	10010	broad.mit.edu	37	2	162087615	162087615	+	Silent	SNP	C	C	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr2:162087615C>T	ENST00000392749.2	+	7	893	c.654C>T	c.(652-654)tgC>tgT	p.C218C	AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000259075.2_Silent_p.C218C|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron|TANK_ENST00000405852.1_Silent_p.C218C	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	218					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GAGGACTGTGCAGAGATGAGG	0.398																																					p.C218C													.	TANK	35		0			c.C654T												119.0	113.0	115.0					2																	162087615		2203	4300	6503	SO:0001819	synonymous_variant	10010	exon7			ACTGTGCAGAGAT	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.654C>T	2.37:g.162087615C>T			Somatic	332	0	0		WXS	Illumina HiSeq	Phase_I	233	0.02	4	NM_004180	31	0.00	0	D3DPB5|Q7Z4J6|Q92885	Silent	SNP	ENST00000392749.2	37	CCDS2215.1																																																																																					0.398	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324232.1		NM_133484	
OBSL1	23363	ucsc.edu	37	2	220422605	220422605	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr2:220422605T>G	ENST00000404537.1	-	11	3786	c.3730A>C	c.(3730-3732)Acc>Ccc	p.T1244P	OBSL1_ENST00000265317.5_Missense_Mutation_p.T235P|OBSL1_ENST00000265318.4_Missense_Mutation_p.T1152P|OBSL1_ENST00000373876.1_Missense_Mutation_p.T1244P|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000603926.1_Missense_Mutation_p.T1244P	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1244	Ig-like 10.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GACTGGCAGGTGTAGAGCCCT	0.677																																					p.T1244P													.	OBSL1	120		0			c.A3730C																																									SO:0001583	missense	23363	exon11			GGCAGGTGTAGAG	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3730A>C	2.37:g.220422605T>G	ENSP00000385636:p.Thr1244Pro		Somatic	27	0.4444444444	12		RNA-Seq	Illumina HiSeq		32	0.31	10	NM_001173431	123	0.23	28	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196777	0.38806	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000265317	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	4.56	2.01	0.26516	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29684	0.0741	M	0.92833	3.35	0.24245	N	0.995343	D;D;D;D	0.89917	0.987;0.994;1.0;0.972	P;D;D;D	0.79108	0.904;0.968;0.992;0.925	T	0.10520	-1.0626	9	0.42905	T	0.14	.	3.4834	0.07610	0.164:0.2698:0.0:0.5662	.	143;1245;1244;235	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	P	1152;1244;1244;235	ENSP00000265318:T1152P;ENSP00000385636:T1244P;ENSP00000362983:T1244P;ENSP00000265317:T235P	ENSP00000265317:T235P	T	-	1	0	OBSL1	220130849	0.163000	0.22920	1.000000	0.80357	0.650000	0.38633	-0.013000	0.12678	0.632000	0.30432	0.260000	0.18958	ACC			0.677	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322012.1			
SP100	6672	broad.mit.edu;mdanderson.org	37	2	231368922	231368922	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr2:231368922A>G	ENST00000264052.5	+	21	2142	c.1787A>G	c.(1786-1788)gAa>gGa	p.E596G	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000340126.4_Missense_Mutation_p.E596G|SP100_ENST00000409112.1_Missense_Mutation_p.E596G	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	596	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCCAAAGATGAAAATATTAAT	0.408																																					p.E596G													.	SP100	167		0			c.A1787G												110.0	118.0	116.0					2																	231368922		2203	4300	6503	SO:0001583	missense	6672	exon21			AAGATGAAAATAT	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1787A>G	2.37:g.231368922A>G	ENSP00000264052:p.Glu596Gly		Somatic	95	0.0105263158	1		WXS	Illumina HiSeq	Phase_I	89	0.04	4	NM_001080391	4	0.00	0	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750473	0.30955	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;T;T	0.74209	-0.82;-0.82;-0.82	4.54	-2.7	0.06004	SAND domain-like (2);SAND domain (2);	2.229890	0.02453	N	0.085732	T	0.72195	0.3430	M	0.72118	2.19	0.09310	N	1	B;B;B	0.30211	0.144;0.174;0.273	B;B;B	0.31686	0.082;0.134;0.134	T	0.59434	-0.7455	10	0.72032	D	0.01	.	6.2024	0.20583	0.2827:0.4534:0.0:0.2639	.	596;596;596	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	G	596;596;596;79	ENSP00000264052:E596G;ENSP00000386427:E596G;ENSP00000343023:E596G	ENSP00000264052:E596G	E	+	2	0	SP100	231077166	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.740000	0.04861	-0.424000	0.07382	0.533000	0.62120	GAA			0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256914.2		NM_003113	
GPR35	2859	mdanderson.org	37	2	241569516	241569516	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr2:241569516G>T	ENST00000319838.5	+	6	1089	c.147G>T	c.(145-147)atG>atT	p.M49I	GPR35_ENST00000438013.2_Missense_Mutation_p.M80I|GPR35_ENST00000430267.1_Missense_Mutation_p.M49I|GPR35_ENST00000403859.1_Missense_Mutation_p.M49I|GPR35_ENST00000407714.1_Missense_Mutation_p.M49I	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	49					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCTGCCGCATGCAGCAGTGGA	0.642																																					p.M80I													.	.			0			c.G240T												89.0	79.0	82.0					2																	241569516		2203	4300	6503	SO:0001583	missense	2859	exon6			CCGCATGCAGCAG		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.147G>T	2.37:g.241569516G>T	ENSP00000322731:p.Met49Ile		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	34	0.09	3	NM_001195382	9	0.00	0	J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271222	0.23221	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	4.02	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.335550	0.29444	N	0.012125	T	0.28234	0.0697	L	0.45581	1.43	0.09310	N	1	P;P;B	0.40398	0.716;0.555;0.304	B;B;B	0.39068	0.289;0.25;0.159	T	0.13656	-1.0501	10	0.54805	T	0.06	-19.586	6.9451	0.24514	0.1061:0.183:0.711:0.0	.	134;80;49	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	I	49;49;80;49;49	ENSP00000322731:M49I;ENSP00000385140:M49I;ENSP00000415890:M80I;ENSP00000384263:M49I;ENSP00000411788:M49I	ENSP00000322731:M49I	M	+	3	0	GPR35	241218189	0.000000	0.05858	0.476000	0.27291	0.549000	0.35272	-0.062000	0.11674	1.001000	0.39076	0.462000	0.41574	ATG			0.642	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000325631.1		NM_001195382	
ZNRF3	84133	mdanderson.org	37	22	29439337	29439337	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr22:29439337G>T	ENST00000544604.2	+	4	727	c.552G>T	c.(550-552)aaG>aaT	p.K184N	ZNRF3_ENST00000332811.4_Missense_Mutation_p.K84N|ZNRF3_ENST00000406323.3_Missense_Mutation_p.K84N|ZNRF3_ENST00000402174.1_Missense_Mutation_p.K84N	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	184					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TGTATGTGAAGGGTGCAGATG	0.532																																					p.K184N													.	.			0			c.G552T												84.0	90.0	88.0					22																	29439337		2005	4175	6180	SO:0001583	missense	84133	exon4			TGTGAAGGGTGCA	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.552G>T	22.37:g.29439337G>T	ENSP00000443824:p.Lys184Asn		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_001206998	44	0.00	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921353	0.73213	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	T;T;T;T	0.10960	2.99;2.82;2.82;2.82	5.86	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.29908	0.895	0.48762	D	0.999706	D	0.89917	1.0	D	0.71184	0.972	T	0.00391	-1.1769	10	0.45353	T	0.12	-0.0807	13.6452	0.62277	0.1254:0.0:0.8746:0.0	.	184	Q9ULT6	ZNRF3_HUMAN	N	184;84;84;84	ENSP00000443824:K184N;ENSP00000328614:K84N;ENSP00000384456:K84N;ENSP00000384553:K84N	ENSP00000328614:K84N	K	+	3	2	ZNRF3	27769337	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.404000	0.52623	2.775000	0.95449	0.655000	0.94253	AAG			0.532	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320943.2		XM_290972	
LARGE	9215	bcgsc.ca;mdanderson.org	37	22	33562812	33562812	+	5'UTR	SNP	A	A	G			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr22:33562812A>G	ENST00000421232.1	-	0	156				RP1-302D9.3_ENST00000434741.1_RNA			O95461	LARGE_HUMAN	like-glycosyltransferase						glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCTGGCTAAAATCAAAGCTAG	0.443																																					.	Colon(70;397 1175 4573 19089 45288)												.	.			0			.																																									SO:0001623	5_prime_UTR_variant	9215	.			GCTAAAATCAAAG	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000421232.1:c.-440T>C	22.37:g.33562812A>G			Somatic	94	0	0		WXS	Illumina HiSeq	Phase_1	61	0.28	17	.	1	1.00	1	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000421232.1	37																																																																																						0.443	LARGE-015	KNOWN	basic|exp_conf	processed_transcript	protein_coding		OTTHUMT00000471750.1		NM_133642	
CYB5R3	1727	mdanderson.org	37	22	43019864	43019864	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr22:43019864G>T	ENST00000352397.5	-	8	916	c.664C>A	c.(664-666)Ctg>Atg	p.L222M	CYB5R3_ENST00000361740.4_Missense_Mutation_p.L255M|CYB5R3_ENST00000402438.1_Missense_Mutation_p.L199M|CYB5R3_ENST00000407332.1_Missense_Mutation_p.L199M|CYB5R3_ENST00000396303.3_Missense_Mutation_p.L199M|CYB5R3_ENST00000407623.3_Missense_Mutation_p.L199M	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	222					blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	AGTTCCTCCAGCTCAGGTCGC	0.602																																					p.L255M													.	.			0			c.C763A												143.0	114.0	124.0					22																	43019864		2203	4300	6503	SO:0001583	missense	1727	exon8			CCTCCAGCTCAGG	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.664C>A	22.37:g.43019864G>T	ENSP00000338461:p.Leu222Met		Somatic	90	0	0		WXS	Illumina HiSeq	Phase_I	52	0.06	3	NM_001171660	352	0.00	0	B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613204	0.46631	.	.	ENSG00000100243	ENST00000361740;ENST00000396303;ENST00000352397;ENST00000407623;ENST00000407332;ENST00000402438	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	4.66	3.65	0.41850	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.64402	D	0.000001	D	0.95636	0.8581	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96004	0.8996	10	0.72032	D	0.01	-21.7036	11.7001	0.51567	0.0868:0.0:0.9132:0.0	.	255;222	B7Z7L3;P00387	.;NB5R3_HUMAN	M	255;199;222;199;199;199	ENSP00000354468:L255M;ENSP00000379597:L199M;ENSP00000338461:L222M;ENSP00000384834:L199M;ENSP00000384457:L199M;ENSP00000385679:L199M	ENSP00000338461:L222M	L	-	1	2	CYB5R3	41349808	1.000000	0.71417	0.999000	0.59377	0.361000	0.29550	4.327000	0.59247	1.335000	0.45486	0.561000	0.74099	CTG			0.602	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320439.1			
PIM3	415116	mdanderson.org	37	22	50356646	50356646	+	Silent	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr22:50356646G>T	ENST00000360612.4	+	6	1287	c.852G>T	c.(850-852)ctG>ctT	p.L284L		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	284	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCGTCGCTGGATCAGATTG	0.697																																					p.L284L													.	.			0			c.G852T												22.0	27.0	25.0					22																	50356646		2200	4298	6498	SO:0001819	synonymous_variant	415116	exon6			GTCGCTGGATCAG	BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"""pim-3 oncogene"""			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.852G>T	22.37:g.50356646G>T			Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_001001852	64	0.00	0	A5D8X8|A8K7J0|B1B0P0|Q68BM2	Silent	SNP	ENST00000360612.4	37	CCDS33678.1																																																																																					0.697	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317406.1		NM_001001852	
PLXNB2	23654	bcgsc.ca	37	22	50719062	50719062	+	Missense_Mutation	SNP	G	G	T	rs200418278		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr22:50719062G>T	ENST00000449103.1	-	25	4171	c.4031C>A	c.(4030-4032)gCc>gAc	p.A1344D	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1344D			O15031	PLXB2_HUMAN	plexin B2	1344					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTGGCGCGGGCCGAGAACTC	0.667																																					p.A1344D													.	PLXNB2	172		0			c.C4031A												45.0	50.0	48.0					22																	50719062		2084	4194	6278	SO:0001583	missense	23654	exon25			GCGCGGGCCGAGA		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4031C>A	22.37:g.50719062G>T	ENSP00000409171:p.Ala1344Asp		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_1	39	0.10	4	NM_012401	234	0.00	0	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877653	0.91664	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.16457	2.34;2.34	4.07	4.07	0.47477	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000009	T	0.39963	0.1098	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.17592	-1.0364	10	0.24483	T	0.36	.	16.785	0.85572	0.0:0.0:1.0:0.0	.	1344	O15031	PLXB2_HUMAN	D	1344	ENSP00000409171:A1344D;ENSP00000352288:A1344D	ENSP00000352288:A1344D	A	-	2	0	PLXNB2	49061189	1.000000	0.71417	0.935000	0.37517	0.948000	0.59901	9.259000	0.95561	2.254000	0.74563	0.561000	0.74099	GCC			0.667	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316874.3		NM_012401	
CCDC54	84692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	107097048	107097048	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr3:107097048C>T	ENST00000261058.1	+	1	861	c.614C>T	c.(613-615)aCt>aTt	p.T205I		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	205										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CCAAAGTCCACTGACCATCTT	0.398																																					p.T205I													.	.			0			c.C614T												74.0	73.0	74.0					3																	107097048		2203	4300	6503	SO:0001583	missense	84692	exon1			AGTCCACTGACCA	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.614C>T	3.37:g.107097048C>T	ENSP00000261058:p.Thr205Ile		Somatic	394	0	0		WXS	Illumina HiSeq	.	311	0.36	112	NM_032600	0		0	Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	C	6.334	0.429674	0.11987	.	.	ENSG00000138483	ENST00000261058	T	0.49139	0.79	5.19	-1.76	0.08006	.	0.720633	0.11931	N	0.515755	T	0.37348	0.1000	M	0.62723	1.935	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.28554	-1.0040	10	0.31617	T	0.26	-0.9036	4.7891	0.13239	0.0:0.3586:0.275:0.3664	.	205	Q8NEL0	CCD54_HUMAN	I	205	ENSP00000261058:T205I	ENSP00000261058:T205I	T	+	2	0	CCDC54	108579738	0.004000	0.15560	0.000000	0.03702	0.458000	0.32498	0.772000	0.26647	-0.387000	0.07809	-0.384000	0.06662	ACT			0.398	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353651.1		NM_032600	
TNIK	23043	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	170856034	170856034	+	Silent	SNP	C	C	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr3:170856034C>A	ENST00000436636.2	-	15	1898	c.1554G>T	c.(1552-1554)ctG>ctT	p.L518L	TNIK_ENST00000460047.1_Silent_p.L518L|TNIK_ENST00000475336.1_Silent_p.L489L|TNIK_ENST00000341852.6_Silent_p.L489L|TNIK_ENST00000369326.5_Silent_p.L489L|TNIK_ENST00000488470.1_Silent_p.L518L|TNIK_ENST00000357327.5_Silent_p.L489L|TNIK_ENST00000538048.1_Silent_p.L518L|TNIK_ENST00000470834.1_Silent_p.L489L|TNIK_ENST00000284483.8_Silent_p.L518L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	518	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGTAATGGTACAGTGGCTTCT	0.507																																					p.L518L													.	TNIK	313		0			c.G1554T												94.0	99.0	97.0					3																	170856034		2042	4186	6228	SO:0001819	synonymous_variant	23043	exon15			ATGGTACAGTGGC	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1554G>T	3.37:g.170856034C>A			Somatic	250	0.004	1		WXS	Illumina HiSeq	Phase_I	182	0.10	18	NM_001161564	30	0.27	8	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	CCDS46956.1																																																																																					0.507	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000352973.2		XM_039796	
CLNK	116449	mdanderson.org	37	4	10567665	10567665	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:10567665G>T	ENST00000226951.6	-	6	499	c.260C>A	c.(259-261)cCa>cAa	p.P87Q	CLNK_ENST00000507719.1_Missense_Mutation_p.P45Q|CLNK_ENST00000442825.2_Missense_Mutation_p.P45Q	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	87					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AGGCCGGGCTGGTAAAATTTT	0.448																																					p.P87Q	GBM(87;402 1286 6949 13902 35851)												.	.			0			c.C260A												75.0	73.0	73.0					4																	10567665		1876	4116	5992	SO:0001583	missense	116449	exon6			CGGGCTGGTAAAA	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.260C>A	4.37:g.10567665G>T	ENSP00000226951:p.Pro87Gln		Somatic	132	0	0		WXS	Illumina HiSeq	Phase_I	85	0.05	4	NM_052964	0		0	Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099194	0.56183	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.68479	-0.01;-0.33;-0.33	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	T	0.74809	0.3765	L	0.36672	1.1	0.38655	D	0.951936	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.78516	-0.2174	10	0.87932	D	0	-11.5853	14.993	0.71406	0.0:0.0:1.0:0.0	.	45;87	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	Q	87;87;45;45	ENSP00000226951:P87Q;ENSP00000390744:P45Q;ENSP00000427208:P45Q	ENSP00000226951:P87Q	P	-	2	0	CLNK	10176763	1.000000	0.71417	0.992000	0.48379	0.240000	0.25518	3.029000	0.49712	2.616000	0.88540	0.585000	0.79938	CCA			0.448	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000359047.1		NM_052964	
PCDH7	5099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	30725848	30725848	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:30725848A>G	ENST00000361762.2	+	1	3812	c.2804A>G	c.(2803-2805)aAa>aGa	p.K935R	PCDH7_ENST00000543491.1_Missense_Mutation_p.K935R	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	935					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAAAAGCCTAAAAAGGACAAG	0.398																																					p.K935R													.	.			0			c.A2804G												80.0	83.0	82.0					4																	30725848		2203	4300	6503	SO:0001583	missense	5099	exon1			AGCCTAAAAAGGA	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2804A>G	4.37:g.30725848A>G	ENSP00000355243:p.Lys935Arg		Somatic	81	0	0		WXS	Illumina HiSeq	.	57	0.37	21	NM_032457	49	0.51	25	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805881	0.31961	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.33654	1.4;1.4	5.16	5.16	0.70880	Protocadherin (1);	.	.	.	.	T	0.26955	0.0660	N	0.20357	0.565	0.48762	D	0.999709	B;B;P	0.37141	0.02;0.149;0.584	B;B;B	0.37304	0.03;0.109;0.246	T	0.06643	-1.0815	9	0.35671	T	0.21	.	15.1597	0.72775	1.0:0.0:0.0:0.0	.	935;888;935	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	R	935;935;888	ENSP00000355243:K935R;ENSP00000441802:K935R	ENSP00000330302:K888R	K	+	2	0	PCDH7	30334946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.962000	0.76048	2.168000	0.68352	0.533000	0.62120	AAA			0.398	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000360366.1		NM_032457, NM_002589	
FRYL	285527	broad.mit.edu	37	4	48537740	48537740	+	Silent	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:48537740G>T	ENST00000503238.1	-	45	6497	c.6498C>A	c.(6496-6498)gtC>gtA	p.V2166V	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.V2166V|FRYL_ENST00000358350.4_Silent_p.V2166V|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	2166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATCTGCACACGACATTGATCC	0.373																																					p.V2166V													.	FRYL	242		0			c.C6498A												96.0	97.0	97.0					4																	48537740		1907	4141	6048	SO:0001819	synonymous_variant	285527	exon48			GCACACGACATTG	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6498C>A	4.37:g.48537740G>T			Somatic	459	0	0		WXS	Illumina HiSeq	Phase_I	337	0.01	5	NM_015030	11	0.00	0	O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	8.262	0.811328	0.16537	.	.	ENSG00000075539	ENST00000514617	.	.	.	5.98	-12.0	0.00017	.	.	.	.	.	T	0.31199	0.0789	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39981	-0.9587	4	.	.	.	.	2.08	0.03633	0.1912:0.2776:0.32:0.2112	.	.	.	.	S	1036	.	.	R	-	1	0	FRYL	48232497	0.001000	0.12720	0.225000	0.23894	0.954000	0.61252	-1.531000	0.02219	-2.377000	0.00597	-0.274000	0.10170	CGT			0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000369265.2			
EXOC5P1	644548	bcgsc.ca	37	4	63682551	63682551	+	IGR	SNP	C	C	G			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:63682551C>G								AC110810.1 (221371 upstream) : RP11-257A22.1 (311477 downstream)																							CGGATGGCTACGATGGCCGAG	0.632																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	644548	.			TGGCTACGATGGC																													4.37:g.63682551C>G			Somatic	151	0	0		WXS	Illumina HiSeq	Phase_1	70	0.19	13	.	0		0		RNA	SNP		37																																																																																					0	0.632										
BMP2K	55589	mdanderson.org	37	4	79792166	79792166	+	Missense_Mutation	SNP	C	C	G	rs202184856|rs200441916	byFrequency	TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:79792166C>G	ENST00000335016.5	+	11	1627	c.1461C>G	c.(1459-1461)caC>caG	p.H487Q	BMP2K_ENST00000502871.1_Missense_Mutation_p.H487Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	487	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcaccaccaccacc	0.502													c|||	68	0.0135783	0.0416	0.0043	5008	,	,		11259	0.001		0.007	False		,,,				2504	0.002				p.H487Q													BMP2K_ENST00000502871,caecum,carcinoma,0,4	BMP2K_ENST00000502871	0	4	0			c.C1461G							-	GLN/HIS,GLN/HIS	12,4302		0,12,2145	20.0	24.0	23.0		1461,1461		0.1	4		23	2,8424		0,2,4211	no	missense,missense	BMP2K	NM_017593.3,NM_198892.1	24,24	0,14,6356	GG,GC,CC		0.0237,0.2782,0.1099	possibly-damaging,possibly-damaging	487/663,487/1162	79792166	14,12726	2157	4213	6370	SO:0001583	missense	55589	exon11			GCAGCACCACCAC	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1461C>G	4.37:g.79792166C>G	ENSP00000334836:p.His487Gln		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	17	0.18	3	NM_017593	17	0.06	1	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.755|0.755	-0.771272|-0.771272	0.02951|0.02951	0.002782|0.002782	2.37E-4|2.37E-4	ENSG00000138756|ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889|ENST00000502613	T;T|.	0.71341|.	1.16;-0.56|.	.|.	.|.	.|.	.|.	3.253760|.	0.01410|.	N|.	0.013962|.	T|T	0.14874|0.14874	0.0359|0.0359	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	P;B|.	0.39094|.	0.659;0.404|.	B;B|.	0.18263|.	0.021;0.021|.	T|T	0.24119|0.24119	-1.0169|-1.0169	9|4	0.10902|.	T|.	0.67|.	.|.	3.2348|3.2348	0.06761|0.06761	0.4658:0.5342:0.0:0.0|0.4658:0.5342:0.0:0.0	.|.	487;487|.	Q9NSY1;Q4W5H2|.	BMP2K_HUMAN;.|.	Q|A	487;487;501|180	ENSP00000421768:H487Q;ENSP00000334836:H487Q|.	ENSP00000264889:H501Q|.	H|P	+|+	3|1	2|0	BMP2K|BMP2K	80011190|80011190	0.000000|0.000000	0.05858|0.05858	0.126000|0.126000	0.21872|0.21872	0.030000|0.030000	0.12068|0.12068	-1.617000|-1.617000	0.02051|0.02051	0.372000|0.372000	0.24591|0.24591	0.377000|0.377000	0.23210|0.23210	CAC|CCA			0.502	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_017593	
PDLIM5	10611	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	95496980	95496980	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:95496980G>C	ENST00000317968.4	+	5	641	c.505G>C	c.(505-507)Gtc>Ctc	p.V169L	PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000542407.1_Missense_Mutation_p.V47L|PDLIM5_ENST00000437932.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	169					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CGTGGCTGCCGTCACTCCTCC	0.547																																					p.V169L													.	PDLIM5	76		0			c.G505C												211.0	167.0	182.0					4																	95496980		2203	4300	6503	SO:0001583	missense	10611	exon5			GCTGCCGTCACTC	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.505G>C	4.37:g.95496980G>C	ENSP00000321746:p.Val169Leu		Somatic	332	0.0060240964	2		WXS	Illumina HiSeq	Phase_I	220	0.25	56	NM_006457	59	0.25	15	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600626	0.13939	.	.	ENSG00000163110	ENST00000317968;ENST00000542407	T;T	0.58210	0.76;0.35	4.75	3.04	0.35103	.	0.499150	0.19183	N	0.120622	T	0.41903	0.1179	L	0.44542	1.39	0.25727	N	0.985314	B	0.24483	0.104	B	0.23150	0.044	T	0.23476	-1.0187	10	0.25751	T	0.34	.	10.4869	0.44729	0.1493:0.0:0.8507:0.0	.	169	Q96HC4	PDLI5_HUMAN	L	169;47	ENSP00000321746:V169L;ENSP00000442187:V47L	ENSP00000321746:V169L	V	+	1	0	PDLIM5	95716003	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.952000	0.49097	0.614000	0.30107	-0.794000	0.03295	GTC			0.547	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253586.1			
PDE5A	8654	mdanderson.org	37	4	120423806	120423806	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:120423806G>T	ENST00000354960.3	-	19	2655	c.2336C>A	c.(2335-2337)gCa>gAa	p.A779E	PDE5A_ENST00000394439.1_Missense_Mutation_p.A727E|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.A737E	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	779	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TACAAGTTCTGCTATCTGAAA	0.358																																					p.A779E													.	.			0			c.C2336A												80.0	78.0	78.0					4																	120423806		2203	4299	6502	SO:0001583	missense	8654	exon19			AGTTCTGCTATCT	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.2336C>A	4.37:g.120423806G>T	ENSP00000347046:p.Ala779Glu		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_001083	4	0.00	0	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	CCDS3713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.344760|5.344760	0.95807|0.95807	.|.	.|.	ENSG00000138735|ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805|ENST00000503412	D;D;D|.	0.84589|.	-1.87;-1.87;-1.87|.	6.06|6.06	6.06|6.06	0.98353|0.98353	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86793|0.86793	0.6018|0.6018	M|M	0.91920|0.91920	3.255|3.255	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.992|.	D;D|.	0.91635|.	0.999;0.916|.	D|D	0.88097|0.88097	0.2817|0.2817	10|5	0.87932|.	D|.	0|.	.|.	20.6397|20.6397	0.99537|0.99537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	779;737|.	O76074;O76074-2|.	PDE5A_HUMAN;.|.	E|K	779;727;737|131	ENSP00000347046:A779E;ENSP00000377957:A727E;ENSP00000264805:A737E|.	ENSP00000264805:A737E|.	A|Q	-|-	2|1	0|0	PDE5A|PDE5A	120643254|120643254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.437000|8.437000	0.90302|0.90302	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GCA|CAG			0.358	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256529.1		NM_001083	
ANKRD50	57182	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	125631497	125631497	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr4:125631497G>A	ENST00000504087.1	-	2	1207	c.170C>T	c.(169-171)tCt>tTt	p.S57F	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	57										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTATTCCCAGAATTCATTAC	0.502																																					p.S57F													.	.			0			c.C170T												86.0	85.0	85.0					4																	125631497		2203	4300	6503	SO:0001583	missense	57182	exon2			TTCCCAGAATTCA	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.170C>T	4.37:g.125631497G>A	ENSP00000425658:p.Ser57Phe		Somatic	281	0	0		WXS	Illumina HiSeq	.	161	0.24	38	NM_020337	20	0.35	7	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576984	0.45902	.	.	ENSG00000151458	ENST00000504087	T	0.19394	2.15	5.23	5.23	0.72850	.	0.329273	0.33217	N	0.005145	T	0.21590	0.0520	L	0.34521	1.04	0.80722	D	1	B	0.22480	0.07	B	0.25140	0.058	T	0.03784	-1.1004	10	0.66056	D	0.02	.	18.9826	0.92760	0.0:0.0:1.0:0.0	.	57	Q9ULJ7	ANR50_HUMAN	F	57	ENSP00000425658:S57F	ENSP00000425658:S57F	S	-	2	0	ANKRD50	125850947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.578000	0.74032	2.721000	0.93114	0.561000	0.74099	TCT			0.502	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364775.1		NM_020337	
ICE1	23379	mdanderson.org	37	5	5473678	5473678	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr5:5473678C>A	ENST00000296564.7	+	16	6452	c.6230C>A	c.(6229-6231)cCg>cAg	p.P2077Q		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2077					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAGAATGCCCCGGTAGATGTT	0.333																																					p.P2077Q													.	.			0			c.C6230A												48.0	45.0	46.0					5																	5473678		1825	4075	5900	SO:0001583	missense	23379	exon16			ATGCCCCGGTAGA																												ENST00000296564.7:c.6230C>A	5.37:g.5473678C>A	ENSP00000296564:p.Pro2077Gln		Somatic	81	0	0		WXS	Illumina HiSeq	Phase_I	34	0.09	3	NM_015325	57	0.02	1	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003193	0.74932	.	.	ENSG00000164151	ENST00000296564	T	0.12879	2.64	5.5	5.5	0.81552	.	.	.	.	.	T	0.33147	0.0853	L	0.50333	1.59	0.49798	D	0.999821	D	0.89917	1.0	D	0.75484	0.986	T	0.01238	-1.1409	9	0.72032	D	0.01	-12.3272	16.8879	0.86080	0.0:1.0:0.0:0.0	.	2077	Q9Y2F5	K0947_HUMAN	Q	2077	ENSP00000296564:P2077Q	ENSP00000296564:P2077Q	P	+	2	0	KIAA0947	5526678	0.998000	0.40836	0.519000	0.27824	0.894000	0.52154	5.923000	0.70045	2.593000	0.87608	0.650000	0.86243	CCG			0.333	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000365575.1			
SLC25A46	91137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	110097196	110097196	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr5:110097196G>A	ENST00000355943.3	+	8	1097	c.971G>A	c.(970-972)aGt>aAt	p.S324N	SLC25A46_ENST00000509432.1_Missense_Mutation_p.S111N|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000513807.1_Missense_Mutation_p.S162N|SLC25A46_ENST00000447245.2_Missense_Mutation_p.S243N|SLC25A46_ENST00000509442.2_Missense_Mutation_p.S233N|SLC25A46_ENST00000504098.1_Missense_Mutation_p.S178N	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	324					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTGCTGCCAGTCTTTGTTCT	0.418																																					p.S324N													.	.			0			c.G971A												298.0	287.0	291.0					5																	110097196		2202	4300	6502	SO:0001583	missense	91137	exon8			CTGCCAGTCTTTG	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.971G>A	5.37:g.110097196G>A	ENSP00000348211:p.Ser324Asn		Somatic	129	0	0		WXS	Illumina HiSeq	.	83	0.29	24	NM_138773	10	0.10	1	A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	G	8.507	0.865583	0.17250	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098;ENST00000509432	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.51	5.51	0.81932	Mitochondrial carrier domain (2);	0.077536	0.85682	D	0.000000	T	0.72236	0.3435	L	0.31476	0.935	0.51233	D	0.999912	B;B	0.31519	0.085;0.327	B;B	0.38056	0.054;0.264	T	0.66858	-0.5817	10	0.18710	T	0.47	-13.3358	19.4187	0.94712	0.0:0.0:1.0:0.0	.	233;324	B4DY98;Q96AG3	.;S2546_HUMAN	N	162;233;324;178;243;178;111	ENSP00000421134:S162N;ENSP00000424136:S233N;ENSP00000348211:S324N;ENSP00000399717:S243N;ENSP00000425708:S178N;ENSP00000426604:S111N	ENSP00000348211:S324N	S	+	2	0	SLC25A46	110125095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.786000	0.55431	2.585000	0.87301	0.650000	0.86243	AGT			0.418	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250721.5		NM_138773	
PCDHB7	56129	hgsc.bcm.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T	rs374392843		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0				p.A526A													PCDHB7,NS,carcinoma,0,4	PCDHB7	0	4	1	Substitution - coding silent(1)	lung(1)	c.G1578T												62.0	68.0	66.0					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129	exon1			GCAGGCGTTCGAG	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T			Somatic	70	0.0142857143	1		WXS	Illumina HiSeq	.	44	0.07	3	NM_018940	11	0.00	0	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																					0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251803.2		NM_018940	
FAT2	2196	bcgsc.ca	37	5	150917382	150917382	+	Silent	SNP	C	C	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr5:150917382C>T	ENST00000261800.5	-	11	9177	c.9165G>A	c.(9163-9165)gcG>gcA	p.A3055A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3055	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A3055A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATTCATGCGCCCCAGGGC	0.458																																					p.A3055A													FAT2,brain,atypical_teratoid-rhabdoid_tumour,0,1	FAT2	465	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.G9165A												120.0	112.0	115.0					5																	150917382		2203	4300	6503	SO:0001819	synonymous_variant	2196	exon11			TTCATGCGCCCCA	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9165G>A	5.37:g.150917382C>T			Somatic	198	0	0		WXS	Illumina HiSeq	Phase_1	151	0.04	6	NM_001447	1	0.00	0	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																					0.458	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252434.1		NM_001447	
GEMIN5	25929	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	5	154268931	154268931	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr5:154268931T>C	ENST00000285873.7	-	27	4384	c.4309A>G	c.(4309-4311)Agg>Ggg	p.R1437G		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1437					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCGGTAAGCCTTTTGGTTAAC	0.358																																					p.R1437G													.	.			0			c.A4309G												111.0	107.0	109.0					5																	154268931		2203	4300	6503	SO:0001583	missense	25929	exon27			TAAGCCTTTTGGT	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.4309A>G	5.37:g.154268931T>C	ENSP00000285873:p.Arg1437Gly		Somatic	141	0	0		WXS	Illumina HiSeq	.	99	0.04	4	NM_015465	78	0.00	0	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.778363	0.70107	.	.	ENSG00000082516	ENST00000285873	T	0.73469	-0.75	5.91	3.56	0.40772	.	0.063874	0.64402	D	0.000004	T	0.73393	0.3581	M	0.65975	2.015	0.35691	D	0.81484	D;D	0.54601	0.967;0.967	P;P	0.45310	0.476;0.476	T	0.81212	-0.1035	10	0.72032	D	0.01	-20.7776	11.1405	0.48400	0.0:0.0:0.4983:0.5017	.	1436;1437	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	G	1437	ENSP00000285873:R1437G	ENSP00000285873:R1437G	R	-	1	2	GEMIN5	154249124	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	2.427000	0.44740	1.014000	0.39417	0.528000	0.53228	AGG			0.358	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252507.1			
CPEB4	80315	broad.mit.edu	37	5	173383109	173383109	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr5:173383109G>A	ENST00000265085.5	+	10	3613	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R695H|CPEB4_ENST00000334035.5_Missense_Mutation_p.R703H|CPEB4_ENST00000522336.1_Missense_Mutation_p.R330H|CPEB4_ENST00000517880.1_Missense_Mutation_p.R313H	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	720					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCGGTGACCGCCCTCGGCAT	0.502																																					p.R720H													.	CPEB4	54		0			c.G2159A												83.0	79.0	80.0					5																	173383109		2203	4300	6503	SO:0001583	missense	80315	exon10			GTGACCGCCCTCG	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.2159G>A	5.37:g.173383109G>A	ENSP00000265085:p.Arg720His		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	90	0.03	3	NM_030627	3	0.00	0	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311475	0.81358	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000522336;ENST00000517880	T;T;T	0.54479	0.57;0.71;0.61	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.998;0.991;0.998	T	0.72663	-0.4225	10	0.87932	D	0	-13.1766	19.8148	0.96562	0.0:0.0:1.0:0.0	.	695;703;330;720	B7ZLQ8;Q17RY0-2;E5RFP2;Q17RY0	.;.;.;CPEB4_HUMAN	H	720;695;703;330;313	ENSP00000265085:R720H;ENSP00000429092:R695H;ENSP00000334533:R703H	ENSP00000265085:R720H	R	+	2	0	CPEB4	173315715	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.809000	0.99208	2.689000	0.91719	0.655000	0.94253	CGC			0.502	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252964.2		NM_030627	
PRDM13	59336	broad.mit.edu	37	6	100061625	100061627	+	In_Frame_Del	DEL	CCG	CCG	-	rs370363311		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	CCG	CCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr6:100061625_100061627delCCG	ENST00000369215.4	+	4	1419_1421	c.1114_1116delCCG	c.(1114-1116)ccgdel	p.P378del		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	378	Poly-Pro.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CGCTGGGGACccgccgccgccgc	0.759																																					p.372_372del													.	PRDM13	65		0			c.1114_1116del									6,73,279		3,0,0,35,3,138						1.4	0.8		dbSNP_132	1	35,181,1058		15,0,5,82,17,518	no	codingComplex	PRDM13	NM_021620.3		18,0,5,117,20,656	A1A1,A1A2,A1R,A2A2,A2R,RR		16.9545,22.067,18.076				41,254,1337				SO:0001651	inframe_deletion	59336	exon4			GGGGACCCGCCGC	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1114_1116delCCG	6.37:g.100061634_100061636delCCG	ENSP00000358217:p.Pro378del		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	6	0.67	4	NM_021620	0		0	Q5TGC1|Q5TGC2	In_Frame_Del	DEL	ENST00000369215.4	37	CCDS43487.1																																																																																					0.759	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041619.2			
HBS1L	10767	mdanderson.org	37	6	135318078	135318078	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr6:135318078G>T	ENST00000367837.5	-	7	1008	c.802C>A	c.(802-804)Cat>Aat	p.H268N	HBS1L_ENST00000367824.4_Missense_Mutation_p.H104N|HBS1L_ENST00000367826.2_Missense_Mutation_p.H226N|HBS1L_ENST00000415177.2_Missense_Mutation_p.H203N|HBS1L_ENST00000527578.1_Missense_Mutation_p.H104N|HBS1L_ENST00000445176.2_5'UTR	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	268	G1. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GCATCAACATGACCTAAAGAA	0.343																																					p.H268N													.	.			0			c.C802A												123.0	125.0	124.0					6																	135318078		2203	4300	6503	SO:0001583	missense	10767	exon7			CAACATGACCTAA	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.802C>A	6.37:g.135318078G>T	ENSP00000356811:p.His268Asn		Somatic	80	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_006620	92	0.00	0	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787985	0.70337	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000529641;ENST00000527507	T;T;T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.71	5.71	0.89125	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	M	0.92649	3.33	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.93061	0.6474	10	0.87932	D	0	-9.5594	19.8712	0.96852	0.0:0.0:1.0:0.0	.	226;268	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	N	268;104;203;226;104;138;104;104	ENSP00000356811:H268N;ENSP00000436256:H104N;ENSP00000389826:H203N;ENSP00000356800:H226N;ENSP00000356798:H104N;ENSP00000434533:H138N;ENSP00000436620:H104N;ENSP00000432092:H104N	ENSP00000356798:H104N	H	-	1	0	HBS1L	135359771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.713000	0.92767	0.655000	0.94253	CAT			0.343	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042339.2			
PMS2	5395	broad.mit.edu	37	7	6017231	6017231	+	Silent	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:6017231G>T	ENST00000265849.7	-	14	2538	c.2433C>A	c.(2431-2433)gcC>gcA	p.A811A	PMS2_ENST00000441476.2_Silent_p.A705A|PMS2_ENST00000382321.4_Silent_p.A410A	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	811					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ACTTCCGGCAGGCTCTGGAGG	0.572			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.A811A			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	PMS2	88		0			c.C2433A												5.0	5.0	5.0					7																	6017231		1811	3525	5336	SO:0001819	synonymous_variant	5395	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	CCGGCAGGCTCTG		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2433C>A	7.37:g.6017231G>T			Somatic	365	0	0		WXS	Illumina HiSeq	Phase_I	296	0.28	84	NM_000535	14	0.36	5	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	CCDS5343.1																																																																																					0.572	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207353.3		NM_000535	
TNS3	64759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	47343091	47343091	+	Missense_Mutation	SNP	T	T	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:47343091T>A	ENST00000398879.1	-	22	3280	c.2914A>T	c.(2914-2916)Agc>Tgc	p.S972C	TNS3_ENST00000355730.3_Missense_Mutation_p.S732C|TNS3_ENST00000311160.9_Missense_Mutation_p.S972C			Q68CZ2	TENS3_HUMAN	tensin 3	972					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AACTCAGCGCTGAGGGGACTT	0.637																																					p.S972C													.	.			0			c.A2914T												21.0	26.0	24.0					7																	47343091		2020	4178	6198	SO:0001583	missense	64759	exon22			CAGCGCTGAGGGG	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2914A>T	7.37:g.47343091T>A	ENSP00000381854:p.Ser972Cys		Somatic	42	0	0		WXS	Illumina HiSeq	.	37	0.14	5	NM_022748	83	0.19	16	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	T	11.39	1.623366	0.28889	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94376	-2.98;-2.98;-3.41;-3.11	5.34	-1.27	0.09347	.	0.861084	0.09864	N	0.745866	D	0.85548	0.5722	N	0.19112	0.55	0.09310	N	1	P	0.38642	0.641	B	0.34824	0.19	T	0.74535	-0.3633	10	0.66056	D	0.02	-3.891	9.4165	0.38525	0.0:0.4841:0.0:0.5159	.	972	Q68CZ2	TENS3_HUMAN	C	972;1082;972;732;428;1075	ENSP00000312143:S972C;ENSP00000381854:S972C;ENSP00000347968:S732C;ENSP00000414358:S1075C	ENSP00000312143:S972C	S	-	1	0	TNS3	47309616	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.016000	0.12613	-0.641000	0.05487	-0.297000	0.09499	AGC			0.637	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157253.1		NM_022748	
TPST1	8460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	65705578	65705578	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:65705578G>T	ENST00000304842.5	+	2	591	c.166G>T	c.(166-168)Gac>Tac	p.D56Y	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	56					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AACTGGCCTGGACCTCAAAGC	0.502																																					p.D56Y													.	.			0			c.G166T												109.0	88.0	95.0					7																	65705578		2203	4300	6503	SO:0001583	missense	8460	exon2			GGCCTGGACCTCA	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.166G>T	7.37:g.65705578G>T	ENSP00000302413:p.Asp56Tyr		Somatic	133	0	0		WXS	Illumina HiSeq	.	140	0.14	20	NM_003596	113	0.26	29	A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768343	0.31320	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	.	.	.	5.93	3.82	0.43975	.	0.346082	0.34603	N	0.003830	T	0.27663	0.0680	N	0.08118	0	0.09310	N	1	B;B	0.26363	0.147;0.078	B;B	0.34452	0.183;0.126	T	0.33548	-0.9864	9	0.51188	T	0.08	-13.8223	12.9499	0.58394	0.1533:0.0:0.8467:0.0	.	56;56	F5H7U7;O60507	.;TPST1_HUMAN	Y	56	.	ENSP00000302413:D56Y	D	+	1	0	TPST1	65343013	0.017000	0.18338	0.086000	0.20670	0.944000	0.59088	1.015000	0.29963	1.513000	0.48852	0.585000	0.79938	GAC			0.502	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251705.2		NM_003596	
AUTS2	26053	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	70252379	70252379	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:70252379T>G	ENST00000342771.4	+	18	2814	c.2493T>G	c.(2491-2493)gaT>gaG	p.D831E	AUTS2_ENST00000406775.2_Missense_Mutation_p.D807E	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	831										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGATGTAGATAAACGAGACT	0.572																																					p.D831E													.	AUTS2	173		0			c.T2493G												35.0	36.0	36.0					7																	70252379		2203	4300	6503	SO:0001583	missense	26053	exon18			TGTAGATAAACGA	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2493T>G	7.37:g.70252379T>G	ENSP00000344087:p.Asp831Glu		Somatic	177	0.011299435	2		WXS	Illumina HiSeq	Phase_I	106	0.18	19	NM_015570	54	0.31	17	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451884	0.43531	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000418686	T;T	0.25250	1.83;1.81	4.88	4.88	0.63580	.	0.052873	0.64402	D	0.000001	T	0.22666	0.0547	N	0.21194	0.64	0.80722	D	1	D;P;P	0.61697	0.99;0.94;0.94	P;P;P	0.50708	0.648;0.647;0.647	T	0.01914	-1.1248	9	.	.	.	-15.2372	9.0979	0.36651	0.0:0.0823:0.0:0.9177	.	283;807;831	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	E	807;831;111	ENSP00000385263:D807E;ENSP00000344087:D831E	.	D	+	3	2	AUTS2	69890315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.502000	0.53332	1.827000	0.53221	0.533000	0.62120	GAT			0.572	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251971.2			
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																					.													.	.			0			.																																											0	.			CCGGGGTCCTTGA	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G			Somatic	156	0.0064102564	1		WXS	Illumina HiSeq	Phase_I	90	0.04	4	.	0		0		RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000345921.1		NR_002164	
STAG3L2	442582	broad.mit.edu	37	7	74306639	74306639	+	RNA	SNP	C	C	G	rs377076588		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:74306639C>G	ENST00000423186.1	-	0	48							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CAGACACCAACGCTCGGAATA	0.622																																					.													.	STAG3L2	8		0			.																																											0	.			CACCAACGCTCGG			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74306639C>G			Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	8	0.25	2	.	13	0.00	0	A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	SNP	ENST00000423186.1	37																																																																																						0.622	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene		OTTHUMT00000343523.2		NM_001025202	
AKAP9	10142	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	91691612	91691612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:91691612delA	ENST00000359028.2	+	25	6050	c.5825delA	c.(5824-5826)gaafs	p.E1942fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E1942fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E1930fs|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1942	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATGCAGATGAAAAAACTCTT	0.313			T	BRAF	papillary thyroid																																p.E1930fs				Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	AKAP9	788		0			c.5788delG												84.0	94.0	91.0					7																	91691612		2203	4300	6503	SO:0001589	frameshift_variant	10142	exon24			CAGATGAAAAAAC	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5825delA	7.37:g.91691612delA	ENSP00000351922:p.Glu1942fs		Somatic	295	0	0		WXS	Illumina HiSeq	.	185	0.16	29	NM_147185	11	0.00	0	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37																																																																																						0.313	AKAP9-202	KNOWN	basic	protein_coding	protein_coding				NM_005751	
SMURF1	57154	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	98628279	98628280	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:98628279_98628280delAT	ENST00000361125.1	-	19	2520_2521	c.2201_2202delAT	c.(2200-2202)tatfs	p.Y734fs	SMURF1_ENST00000361368.2_Frame_Shift_Del_p.Y708fs|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	734	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CATAGGACTCATATGGTGGAAT	0.53																																					p.734_735del													.	SMURF1	58		0			c.2202_2203del																																									SO:0001589	frameshift_variant	57154	exon19			GGACTCATATGGT	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.2201_2202delAT	7.37:g.98628281_98628282delAT	ENSP00000354621:p.Tyr734fs		Somatic	96	0	0		WXS	Illumina HiSeq	.	47	0.28	13	NM_020429	46	0.00	0	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Frame_Shift_Del	DEL	ENST00000361125.1	37	CCDS34690.1																																																																																					0.530	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000335001.2		NM_020429	
TRPV6	55503	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	142570126	142570126	+	Splice_Site	SNP	G	G	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:142570126G>A	ENST00000359396.3	-	14	2139	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	632					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATCACTCACCGCAGGAACCAG	0.667																																					p.R632W													TRPV6,NS,carcinoma,0,1	TRPV6	108	1	0			c.C1894T												61.0	56.0	57.0					7																	142570126		2203	4300	6503	SO:0001630	splice_region_variant	55503	exon14			CTCACCGCAGGAA	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1895+1C>T	7.37:g.142570126G>A			Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	27	0.15	4	NM_018646	9	0.00	0	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Splice_Site	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724325	0.68959	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.80480	-1.38	5.2	2.04	0.26737	.	0.054858	0.64402	D	0.000001	D	0.87696	0.6242	M	0.83603	2.65	0.49213	D	0.999763	D	0.89917	1.0	D	0.87578	0.998	D	0.86282	0.1668	10	0.87932	D	0	-32.6818	7.1358	0.25527	0.0873:0.0:0.3397:0.573	.	632	Q9H1D0	TRPV6_HUMAN	W	632;464	ENSP00000352358:R632W	ENSP00000310825:R464W	R	-	1	2	TRPV6	142280248	0.999000	0.42202	1.000000	0.80357	0.843000	0.47879	0.699000	0.25586	0.709000	0.31976	-0.182000	0.12963	CGG			0.667	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347662.1		NM_014274	Missense_Mutation
ZNF398	57541	mdanderson.org	37	7	148851348	148851348	+	Silent	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:148851348G>T	ENST00000475153.1	+	2	603	c.336G>T	c.(334-336)cgG>cgT	p.R112R	ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000540950.1_Silent_p.R117R|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000485111.1_3'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	112					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TGCAGAGGCGGCTGGAGAACT	0.567																																					p.R112R													.	.			0			c.G336T												55.0	60.0	58.0					7																	148851348		2203	4300	6503	SO:0001819	synonymous_variant	57541	exon2			GAGGCGGCTGGAG	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.336G>T	7.37:g.148851348G>T			Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_170686	19	0.00	0	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP	ENST00000475153.1	37	CCDS5894.1																																																																																					0.567	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352722.2			
WDR86	349136	mdanderson.org	37	7	151106405	151106405	+	Intron	SNP	C	C	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:151106405C>T	ENST00000334493.6	-	1	594				WDR86_ENST00000469830.2_Intron|WDR86-AS1_ENST00000480632.1_RNA|WDR86_ENST00000477459.1_Intron|WDR86-AS1_ENST00000489632.1_RNA	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86											breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGGGATGAGCGGGGGCTGGA	0.697																																					.													.	.			0			.																																									SO:0001627	intron_variant	100131176	.			GATGAGCGGGGGC	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.163+107G>A	7.37:g.151106405C>T			Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	40	0.08	3	.	2	0.00	0	B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	RNA	SNP	ENST00000334493.6	37	CCDS5925.2																																																																																					0.697	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319999.3		NM_198285	
RBM33	155435	mdanderson.org	37	7	155473369	155473369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr7:155473369G>T	ENST00000401878.3	+	5	532	c.334G>T	c.(334-336)Gga>Tga	p.G112*	RBM33_ENST00000392759.3_Nonsense_Mutation_p.G112*|RBM33_ENST00000287912.3_Nonsense_Mutation_p.G112*	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	112							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGACCAATCTGGAGAACAGGA	0.403																																					p.G112X													.	.			0			c.G334T												94.0	88.0	90.0					7																	155473369		1916	4139	6055	SO:0001587	stop_gained	155435	exon5			CAATCTGGAGAAC	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.334G>T	7.37:g.155473369G>T	ENSP00000384160:p.Gly112*		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	33	0.09	3	NM_053043	48	0.00	0	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Nonsense_Mutation	SNP	ENST00000401878.3	37	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	39	7.413684	0.98269	.	.	ENSG00000184863	ENST00000287912;ENST00000401878;ENST00000392759;ENST00000440108	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	9.6072	0.39641	0.0753:0.1431:0.7815:0.0	.	.	.	.	X	112;112;112;3	.	ENSP00000287912:G112X	G	+	1	0	RBM33	155166130	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.815000	0.38981	2.686000	0.91538	0.650000	0.86243	GGA			0.403	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000317225.3		NM_001008408	
FAM83H	286077	mdanderson.org	37	8	144808833	144808833	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr8:144808833C>T	ENST00000388913.3	-	5	2923	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	933					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTGCCCCTGCGCTCCGGCAC	0.746																																					p.R933H													FAM83H,NS,carcinoma,-1,1	FAM83H	-1	1	0			c.G2798A												5.0	6.0	6.0					8																	144808833		1708	3739	5447	SO:0001583	missense	286077	exon5			CCCCTGCGCTCCG	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2798G>A	8.37:g.144808833C>T	ENSP00000373565:p.Arg933His		Somatic	21	0	0		WXS	Illumina HiSeq	Phase_I	16	0.13	2	NM_198488	56	0.00	0	A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	14.89	2.670513	0.47781	.	.	ENSG00000180921	ENST00000388913	T	0.17213	2.29	4.95	3.15	0.36227	.	148.889000	0.00166	N	0.000000	T	0.15392	0.0371	L	0.29908	0.895	0.19775	N	0.999956	B	0.12630	0.006	B	0.04013	0.001	T	0.21245	-1.0251	10	0.44086	T	0.13	.	6.1236	0.20167	0.0:0.6407:0.1557:0.2036	.	933	Q6ZRV2	FA83H_HUMAN	H	933	ENSP00000373565:R933H	ENSP00000373565:R933H	R	-	2	0	FAM83H	144880821	0.794000	0.28838	0.997000	0.53966	0.135000	0.20990	1.868000	0.39509	0.530000	0.28619	0.500000	0.49745	CGC			0.746	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257632.2		NM_198488	
GOLGA2	2801	broad.mit.edu;ucsc.edu;mdanderson.org	37	9	131022893	131022893	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr9:131022893C>T	ENST00000421699.2	-	17	1540	c.1528G>A	c.(1528-1530)Gcg>Acg	p.A510T	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.A498T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	510					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						AGCTCGGCCGCCCGCTCCAGC	0.662																																					p.A510T													.	GOLGA2	69		0			c.G1528A												57.0	69.0	65.0					9																	131022893		2203	4300	6503	SO:0001583	missense	2801	exon17			CGGCCGCCCGCTC	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1528G>A	9.37:g.131022893C>T	ENSP00000416097:p.Ala510Thr		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	20	0.25	5	NM_004486	67	0.12	8	Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	8.960	0.970266	0.18659	.	.	ENSG00000167110	ENST00000421699	T	0.22945	1.93	5.31	3.35	0.38373	.	0.995107	0.08160	N	0.988641	T	0.15696	0.0378	N	0.26042	0.785	0.09310	N	1	B	0.17667	0.023	B	0.15484	0.013	T	0.38672	-0.9650	10	0.15952	T	0.53	.	3.723	0.08463	0.0:0.4675:0.1864:0.3462	.	510	Q08379	GOGA2_HUMAN	T	510	ENSP00000416097:A510T	ENSP00000416097:A510T	A	-	1	0	GOLGA2	130062714	0.002000	0.14202	0.001000	0.08648	0.784000	0.44337	1.512000	0.35812	0.514000	0.28300	0.313000	0.20887	GCG			0.662	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054358.2		NM_004486	
Unknown	0	bcgsc.ca	37	9	141038031	141038031	+	IGR	SNP	C	C	T	rs28468575		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chr9:141038031C>T								CACNA1B (18955 upstream) : TUBBP5 (6533 downstream)																							CCCACAGGGCCGGTGTGCTGC	0.642																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			CAGGGCCGGTGTG																													9.37:g.141038031C>T			Somatic	35	0.1142857143	4		WXS	Illumina HiSeq	Phase_1	20	0.55	11	.	0		0		RNA	SNP		37																																																																																					0	0.642										
DMD	1756	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	32456429	32456429	+	Missense_Mutation	SNP	C	C	T	rs146880270		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chrX:32456429C>T	ENST00000357033.4	-	29	4206	c.4000G>A	c.(4000-4002)Gga>Aga	p.G1334R	DMD_ENST00000378677.2_Missense_Mutation_p.G1330R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1334					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCATGACTCCGCCATCTGTT	0.378																																					p.G1334R													.	DMD	2127		0			c.G4000A							C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1,3830		0,1,1629,571	131.0	111.0	118.0		3976,4000,3631,3988,3631	5.8	1.0	X	dbSNP_134	118	1,6727		0,1,2427,1872	no	missense,missense,missense,missense,missense	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3	125,125,125,125,125	0,2,4056,2443	TT,TC,CC,C		0.0149,0.0261,0.0189	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1326/3678,1334/3686,1211/3563,1330/3682,1211/3563	32456429	2,10557	2201	4300	6501	SO:0001583	missense	1756	exon29			TGACTCCGCCATC	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4000G>A	X.37:g.32456429C>T	ENSP00000354923:p.Gly1334Arg		Somatic	234	0.0042735043	1		WXS	Illumina HiSeq	Phase_I	232	0.41	94	NM_004006	24	0.50	12	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170796	0.78452	2.61E-4	1.49E-4	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.37235	1.21;1.21	5.82	5.82	0.92795	.	0.000000	0.36234	U	0.002719	T	0.41766	0.1173	L	0.47016	1.485	0.80722	D	1	P;D;P	0.58620	0.93;0.983;0.885	P;P;B	0.46144	0.505;0.448;0.308	T	0.36625	-0.9740	10	0.72032	D	0.01	.	18.667	0.91493	0.0:1.0:0.0:0.0	.	1326;1334;1330	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	R	1326;1330;1334;1334;1211	ENSP00000367948:G1330R;ENSP00000354923:G1334R	ENSP00000354923:G1334R	G	-	1	0	DMD	32366350	0.996000	0.38824	0.963000	0.40424	0.989000	0.77384	3.368000	0.52357	2.453000	0.82957	0.600000	0.82982	GGA			0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056182.2		NM_004006	
FGD1	2245	mdanderson.org	37	X	54497049	54497049	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chrX:54497049G>A	ENST00000375135.3	-	3	1359	c.626C>T	c.(625-627)gCa>gTa	p.A209V		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	209	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGATACTGCTGCAGAACTGGG	0.637																																					p.A209V													.	.			0			c.C626T												24.0	19.0	21.0					X																	54497049		2202	4298	6500	SO:0001583	missense	2245	exon3			ACTGCTGCAGAAC	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.626C>T	X.37:g.54497049G>A	ENSP00000364277:p.Ala209Val		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_004463	82	0.00	0	Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021933	0.75275	.	.	ENSG00000102302	ENST00000375135	T	0.65364	-0.15	5.16	5.16	0.70880	.	0.126397	0.36444	N	0.002592	T	0.38401	0.1039	N	0.08118	0	0.39571	D	0.969281	P	0.43477	0.808	B	0.30943	0.122	T	0.53244	-0.8466	10	0.59425	D	0.04	-12.0612	15.3555	0.74423	0.0:0.0:1.0:0.0	.	209	P98174	FGD1_HUMAN	V	209	ENSP00000364277:A209V	ENSP00000364277:A209V	A	-	2	0	FGD1	54513774	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	6.418000	0.73341	2.306000	0.77630	0.292000	0.19580	GCA			0.637	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056801.1		NM_004463	
AIFM1	9131	broad.mit.edu	37	X	129264042	129264042	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chrX:129264042T>C	ENST00000287295.3	-	15	1903	c.1673A>G	c.(1672-1674)gAg>gGg	p.E558G	AIFM1_ENST00000460436.2_Missense_Mutation_p.E219G|AIFM1_ENST00000319908.3_Missense_Mutation_p.E554G|AIFM1_ENST00000346424.2_Missense_Mutation_p.E271G|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Missense_Mutation_p.E206G	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	558					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	GCCGTAGTCCTCCCCCTGGAC	0.532																																					p.E558G													.	AIFM1	75		0			c.A1673G												169.0	160.0	163.0					X																	129264042		2203	4300	6503	SO:0001583	missense	9131	exon15			TAGTCCTCCCCCT	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1673A>G	X.37:g.129264042T>C	ENSP00000287295:p.Glu558Gly		Somatic	155	0.0258064516	4		WXS	Illumina HiSeq	Phase_I	189	0.03	5	NM_004208	302	0.00	1	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.698898	0.48307	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.84298	0.79;0.79;-1.83;0.79;-0.83	4.88	4.88	0.63580	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.099426	0.64402	D	0.000002	D	0.84037	0.5384	M	0.69523	2.12	0.80722	D	1	B;B;B	0.15719	0.006;0.014;0.008	B;B;B	0.17098	0.011;0.017;0.007	T	0.81230	-0.1027	10	0.42905	T	0.14	-17.2625	13.6612	0.62368	0.0:0.0:0.0:1.0	.	271;554;558	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	G	219;271;554;206;558	ENSP00000431222:E219G;ENSP00000316320:E271G;ENSP00000315122:E554G;ENSP00000405879:E206G;ENSP00000287295:E558G	ENSP00000287295:E558G	E	-	2	0	AIFM1	129091723	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	7.525000	0.81892	1.798000	0.52647	0.486000	0.48141	GAG			0.532	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058247.2			
CDR1	1038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	139866052	139866052	+	Silent	SNP	G	G	A	rs146276960		TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chrX:139866052G>A	ENST00000370532.2	-	1	671	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	160	6 X 6 AA approximate repeats.							p.S160S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAAGTCTTCCGGATAATTTGG	0.443													G|||	1	0.000264901	0.0	0.0	3775	,	,		15094	0.0		0.0	False		,,,				2504	0.001				p.S160S													.	.			1	Substitution - coding silent(1)	large_intestine(1)	c.C480T							G		1,3832		0,1,1630,571	134.0	140.0	138.0		480	-7.0	0.0	X	dbSNP_134	138	1,6727		0,1,2427,1872	no	coding-synonymous	CDR1	NM_004065.2		0,2,4057,2443	AA,AG,GG,G		0.0149,0.0261,0.0189		160/263	139866052	2,10559	2202	4300	6502	SO:0001819	synonymous_variant	1038	exon1			TCTTCCGGATAAT		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.480C>T	X.37:g.139866052G>A			Somatic	349	0	0		WXS	Illumina HiSeq	.	423	0.26	108	NM_004065	4	0.50	2	Q5JXH6	Silent	SNP	ENST00000370532.2	37	CCDS14670.1																																																																																			0		0.443	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058583.1		NM_004065	
MAMLD1	10046	bcgsc.ca	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																					p.Q597L													.	MAMLD1	263		0			c.A1790T												67.0	59.0	62.0					X																	149639635		2203	4300	6503	SO:0001583	missense	10046	exon3			AGCTGCAGCAGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu		Somatic	130	0.0076923077	1		WXS	Illumina HiSeq	Phase_1	204	0.04	8	NM_005491	15	0.00	0	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG			0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000060844.2		NM_005491	
GABRE	2564	broad.mit.edu	37	X	151138734	151138734	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chrX:151138734C>T	ENST00000370328.3	-	2	250	c.197G>A	c.(196-198)gGc>gAc	p.G66D	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.G66D	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	66					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGCAGTTTGCCAACTCTGCT	0.527																																					p.G66D													.	GABRE	141		0			c.G197A												169.0	151.0	157.0					X																	151138734		2203	4300	6503	SO:0001583	missense	2564	exon2			AGTTTGCCAACTC	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.197G>A	X.37:g.151138734C>T	ENSP00000359353:p.Gly66Asp		Somatic	210	0	0		WXS	Illumina HiSeq	Phase_I	237	0.03	6	NM_004961	3	0.00	0	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	c	15.76	2.928047	0.52759	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79554	-1.28;-0.67	4.11	2.33	0.28932	.	0.584174	0.14388	N	0.322720	T	0.63581	0.2523	N	0.08118	0	0.09310	N	0.999998	D	0.59767	0.986	P	0.47206	0.541	T	0.55159	-0.8184	10	0.44086	T	0.13	.	4.4851	0.11785	0.0:0.5795:0.284:0.1365	.	66	P78334	GBRE_HUMAN	D	66	ENSP00000359353:G66D;ENSP00000359350:G66D	ENSP00000359350:G66D	G	-	2	0	GABRE	150889390	0.000000	0.05858	0.001000	0.08648	0.214000	0.24535	0.110000	0.15437	0.484000	0.27630	0.597000	0.82753	GGC			0.527	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060903.1		NM_004961, NM_021990, NM_021984	
U82695.9	0	bcgsc.ca;mdanderson.org	37	X	152752177	152752177	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGM-01A-11D-A42Y-10	TCGA-2G-AAGM-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eed38dd0-aca9-4db2-aca6-355ce6cd8537	ae823486-841b-41c3-91e4-0046a66ca6c0	g.chrX:152752177G>A	ENST00000428676.1	+	2	331	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	HAUS7_ENST00000370210.1_Intron|HAUS7_ENST00000421080.2_Intron																							CTCATTGACCGGCGCCGCATC	0.632																																					.													.	.			0			.																																									SO:0001583	missense	0	.			TTGACCGGCGCCG																												ENST00000428676.1:c.287G>A	X.37:g.152752177G>A	ENSP00000398003:p.Arg96Gln		Somatic	172	0.0058139535	1		WXS	Illumina HiSeq	Phase_1	256	0.19	48	.	8	0.13	1		Missense_Mutation	SNP	ENST00000428676.1	37		.	.	.	.	.	.	.	.	.	.	G	5.690	0.311859	0.10789	.	.	ENSG00000224963	ENST00000428676	.	.	.	4.2	-0.0553	0.13810	.	.	.	.	.	T	0.23572	0.0570	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25293	-1.0136	4	.	.	.	.	4.4531	0.11630	0.1649:0.1279:0.5864:0.1208	.	.	.	.	S	111	.	.	G	+	1	0	U82695.9	152405371	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.870000	0.04228	-0.797000	0.04450	-1.268000	0.01426	GGC			0.632	U82695.9-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding		OTTHUMT00000060961.2			
