#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADCY10	55811	hgsc.bcm.edu;ucsc.edu	37	1	167829063	167829063	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr1:167829063delA	ENST00000367851.4	-	16	2062	c.1878delT	c.(1876-1878)tttfs	p.F626fs	ADCY10_ENST00000367848.1_Frame_Shift_Del_p.F534fs|ADCY10_ENST00000545172.1_Frame_Shift_Del_p.F473fs	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	626					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGATCTTCATAAACAATATTT	0.403																																																	0													200.0	209.0	206.0					1																	167829063		2203	4300	6503	SO:0001589	frameshift_variant	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1878delT	1.37:g.167829063delA	ENSP00000356825:p.Phe626fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Frame_Shift_Del	DEL	ENST00000367851.4	37	CCDS1265.1																																																																																				0.403	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1		NM_018417	
AIM1L	55057	hgsc.bcm.edu;ucsc.edu	37	1	26650663	26650663	+	Missense_Mutation	SNP	C	C	T	rs189284478		TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr1:26650663C>T	ENST00000308182.5	-	17	2011	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N	AIM1L_ENST00000527815.1_Missense_Mutation_p.D699N			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	528	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		AGCAGCCCATCCTCGTAGTAC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17032	0.0		0.001	False		,,,				2504	0.0																0													103.0	93.0	96.0					1																	26650663		2203	4300	6503	SO:0001583	missense	55057					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1582G>A	1.37:g.26650663C>T	ENSP00000310435:p.Asp528Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	27.6	4.848090	0.91277	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.42900	0.96;0.96	5.46	5.46	0.80206	Ricin B-related lectin (1);Ricin B lectin (3);	0.195954	0.52532	D	0.000065	T	0.54647	0.1871	L	0.47716	1.5	0.80722	D	1	D	0.56968	0.978	P	0.56916	0.809	T	0.51631	-0.8681	10	0.46703	T	0.11	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	528	Q8N1P7	AIM1L_HUMAN	N	699;528	ENSP00000433931:D699N;ENSP00000310435:D528N	ENSP00000310435:D528N	D	-	1	0	AIM1L	26523250	1.000000	0.71417	0.993000	0.49108	0.966000	0.64601	5.296000	0.65698	2.576000	0.86940	0.650000	0.86243	GAT		0.612	AIM1L-201	KNOWN	basic	protein_coding	protein_coding			NM_001039775.2	
ANK3	288	hgsc.bcm.edu;ucsc.edu	37	10	61835851	61835851	+	Silent	SNP	A	A	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr10:61835851A>T	ENST00000280772.2	-	37	4979	c.4788T>A	c.(4786-4788)tcT>tcA	p.S1596S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1596	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCAGGGTACCAGAGGAAACTT	0.483																																																	0													153.0	144.0	147.0					10																	61835851		2203	4300	6503	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4788T>A	10.37:g.61835851A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987	
ATP7A	538	hgsc.bcm.edu	37	X	77254041	77254041	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chrX:77254041A>T	ENST00000341514.6	+	5	1558	c.1403A>T	c.(1402-1404)aAt>aTt	p.N468I	ATP7A_ENST00000343533.5_Missense_Mutation_p.N468I|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	468					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACTTCAACTAATGAATTTTAT	0.418																																																	0													159.0	151.0	154.0					X																	77254041		2203	4296	6499	SO:0001583	missense	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1403A>T	X.37:g.77254041A>T	ENSP00000345728:p.Asn468Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	A	4.764	0.141999	0.09083	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.96334	-3.98;-3.98	5.23	-0.62	0.11567	.	0.640599	0.13961	N	0.350801	D	0.89543	0.6745	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.006	B;B	0.20184	0.028;0.018	T	0.80130	-0.1511	10	0.37606	T	0.19	-3.1724	4.2931	0.10888	0.4089:0.4084:0.078:0.1048	.	468;478	Q04656;Q59HD1	ATP7A_HUMAN;.	I	468;468;478	ENSP00000343026:N468I;ENSP00000345728:N468I	ENSP00000345728:N468I	N	+	2	0	ATP7A	77140697	0.255000	0.24002	0.414000	0.26521	0.059000	0.15707	0.793000	0.26944	-0.054000	0.13266	0.486000	0.48141	AAT		0.418	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1		NM_000052	
CDKN2A	1029	hgsc.bcm.edu	37	9	21970916	21970916	+	Missense_Mutation	SNP	C	C	T	rs3731249	byFrequency	TCGA-CZ-5455-01A-01W-1528-10	TCGA-CZ-5455-11A-01W-1528-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	18d638e2-3061-4ea5-8ad5-93559d1eabb0	cd5529f7-7518-4681-8443-92e6d3d8ad6f	g.chr9:21970916C>T	ENST00000304494.5	-	2	712	c.442G>A	c.(442-444)Gcg>Acg	p.A148T	CDKN2A_ENST00000479692.2_Missense_Mutation_p.A97T|CDKN2A_ENST00000578845.2_Missense_Mutation_p.A97T|CDKN2A_ENST00000494262.1_Missense_Mutation_p.A97T|CDKN2A_ENST00000446177.1_Missense_Mutation_p.A148T|CDKN2A_ENST00000497750.1_Missense_Mutation_p.A97T|CDKN2A_ENST00000498124.1_Missense_Mutation_p.A148T|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.A97T|CDKN2A_ENST00000361570.3_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	148			A -> T (in dbSNP:rs3731249). {ECO:0000269|PubMed:10651484, ECO:0000269|PubMed:7987387, ECO:0000269|PubMed:8595405, ECO:0000269|PubMed:8653684, ECO:0000269|PubMed:8710906, ECO:0000269|PubMed:9328469}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.R128fs*12(3)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGACCTTCCGCGGCATCTATG	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			C|||	35	0.00698882	0.0	0.0144	5008	,	,		17084	0.0		0.0249	False		,,,				2504	0.0					.											1332	Whole gene deletion(1316)|Unknown(13)|Deletion - Frameshift(3)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(143)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(49)|oesophagus(48)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM004869	CDKN2A	M	rs3731249	C	THR/ALA,THR/ALA,,	17,4389	23.3+/-48.9	0,17,2186	34.0	36.0	35.0		442,442,,	1.1	0.0	9	dbSNP_107	35	276,8324	103.6+/-164.7	7,262,4031	yes	missense,missense,utr-3,utr-3	CDKN2A	NM_000077.4,NM_001195132.1,NM_058195.3,NM_058197.4	58,58,,	7,279,6217	TT,TC,CC		3.2093,0.3858,2.2528	benign,benign,,	148/157,148/168,,	21970916	293,12713	2203	4300	6503	SO:0001583	missense	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.442G>A	9.37:g.21970916C>T	ENSP00000307101:p.Ala148Thr	Somatic		WXS	Illumina MiSeq	Phase_I	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	CCDS6510.1	28	0.01282051282051282	0	0.0	8	0.022099447513812154	0	0.0	20	0.026385224274406333	C	12.56	1.975321	0.34848	0.003858	0.032093	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.76578	-0.92;-1.03	4.7	1.06	0.20224	.	.	.	.	.	T	0.33731	0.0873	L	0.37697	1.125	0.09310	N	1	P	0.35155	0.487	B	0.12156	0.007	T	0.15178	-1.0446	9	0.22109	T	0.4	.	6.1663	0.20392	0.358:0.3742:0.2678:0.0	rs3731249;rs3731249	148	P42771	CD2A1_HUMAN	T	148	ENSP00000307101:A148T;ENSP00000394932:A148T	ENSP00000307101:A148T	A	-	1	0	CDKN2A	21960916	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.030000	0.13688	0.400000	0.25396	0.655000	0.94253	GCG		0.597	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1		NM_000077	
CHCHD3	54927	hgsc.bcm.edu	37	7	132470404	132470404	+	Silent	SNP	T	T	A			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr7:132470404T>A	ENST00000262570.5	-	8	822	c.678A>T	c.(676-678)ggA>ggT	p.G226G	CHCHD3_ENST00000448878.1_Silent_p.G231G|CHCHD3_ENST00000476546.1_5'UTR	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	226					inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GTTTTTATCCTCCCTTCTCAA	0.363																																																	0													98.0	93.0	95.0					7																	132470404		2203	4300	6503	SO:0001819	synonymous_variant	54927			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21906	protein-coding gene	gene with protein product	"""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22"""	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.678A>T	7.37:g.132470404T>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000262570.5	37	CCDS5828.1																																																																																				0.363	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338899.1		NM_017812	
CORO1B	57175	hgsc.bcm.edu;ucsc.edu	37	11	67207622	67207622	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr11:67207622C>T	ENST00000341356.5	-	8	1084	c.974G>A	c.(973-975)cGg>cAg	p.R325Q	CORO1B_ENST00000393893.1_Missense_Mutation_p.R325Q|CORO1B_ENST00000539724.1_5'UTR|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	325					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CTCCAGGCCCCGCTTGGGCAT	0.607																																																	0													65.0	67.0	66.0					11																	67207622		2200	4295	6495	SO:0001583	missense	57175			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.974G>A	11.37:g.67207622C>T	ENSP00000340211:p.Arg325Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159691	0.94727	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.32753	1.44;1.44	3.86	2.95	0.34219	Domain of unknown function DUF1900 (1);	0.000000	0.47455	D	0.000224	T	0.58864	0.2152	M	0.89095	3.005	0.50039	D	0.99984	D	0.89917	1.0	D	0.81914	0.995	T	0.67654	-0.5615	10	0.87932	D	0	-23.5612	12.2208	0.54433	0.0:0.9124:0.0:0.0876	.	325	Q9BR76	COR1B_HUMAN	Q	325	ENSP00000377471:R325Q;ENSP00000340211:R325Q	ENSP00000340211:R325Q	R	-	2	0	CORO1B	66964198	0.999000	0.42202	0.881000	0.34555	0.923000	0.55619	7.564000	0.82326	1.189000	0.43028	0.591000	0.81541	CGG		0.607	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1		NM_020441	
CR2	1380	hgsc.bcm.edu;ucsc.edu	37	1	207651381	207651381	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr1:207651381C>A	ENST00000367058.3	+	15	3066	c.2877C>A	c.(2875-2877)caC>caA	p.H959Q	CR2_ENST00000367057.3_Missense_Mutation_p.H1018Q|CR2_ENST00000367059.3_Missense_Mutation_p.H897Q|CR2_ENST00000458541.2_Missense_Mutation_p.H932Q	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	959	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AATCGGATCACCAATGGAACC	0.522																																																	0													99.0	89.0	92.0					1																	207651381		2203	4300	6503	SO:0001583	missense	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2877C>A	1.37:g.207651381C>A	ENSP00000356025:p.His959Gln	Somatic		WXS	Illumina HiSeq	Phase_I	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	3.491	-0.103817	0.06967	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.63744	-0.06;-0.06;0.83;-0.06	5.59	-2.79	0.05841	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.32675	0.0837	N	0.10874	0.06	0.09310	N	1	B;B;B	0.16166	0.016;0.004;0.012	B;B;B	0.21360	0.034;0.019;0.027	T	0.17992	-1.0351	9	0.30854	T	0.27	.	0.3229	0.00306	0.257:0.2549:0.2509:0.2372	.	897;959;1018	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Q	959;1018;897;932	ENSP00000356025:H959Q;ENSP00000356024:H1018Q;ENSP00000356026:H897Q;ENSP00000404222:H932Q	ENSP00000356024:H1018Q	H	+	3	2	CR2	205718004	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.622000	0.00877	0.041000	0.15688	-0.244000	0.11960	CAC		0.522	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1		NM_001877	
ERMN	57471	hgsc.bcm.edu;ucsc.edu	37	2	158178112	158178112	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr2:158178112C>T	ENST00000410096.1	-	3	817	c.526G>A	c.(526-528)Gat>Aat	p.D176N	ERMN_ENST00000535935.1_Missense_Mutation_p.D70N|ERMN_ENST00000420719.2_Missense_Mutation_p.D156N|ERMN_ENST00000397283.2_Missense_Mutation_p.D189N	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	176					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TGCTCCTCATCATGTTTAGAA	0.378																																																	0													172.0	161.0	165.0					2																	158178112		1935	4138	6073	SO:0001583	missense	57471			AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.526G>A	2.37:g.158178112C>T	ENSP00000387047:p.Asp176Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	C	9.577	1.122465	0.20877	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719	.	.	.	5.83	2.95	0.34219	.	0.787789	0.11873	N	0.521254	T	0.24353	0.0590	L	0.29908	0.895	0.09310	N	1	B;B;B	0.30361	0.096;0.277;0.096	B;B;B	0.28638	0.036;0.092;0.067	T	0.21861	-1.0233	9	0.66056	D	0.02	-33.6265	5.1063	0.14785	0.1527:0.6208:0.1474:0.0791	.	156;189;176	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	N	176;189;70;156	.	ENSP00000380453:D189N	D	-	1	0	ERMN	157886358	0.000000	0.05858	0.002000	0.10522	0.344000	0.29017	0.151000	0.16283	0.745000	0.32763	0.655000	0.94253	GAT		0.378	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1		NM_001009959	
FAT3	120114	hgsc.bcm.edu	37	11	92531420	92531421	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr11:92531420_92531421insG	ENST00000298047.6	+	9	5258_5259	c.5241_5242insG	c.(5242-5244)ggafs	p.G1748fs	FAT3_ENST00000409404.2_Frame_Shift_Ins_p.G1748fs|FAT3_ENST00000525166.1_Frame_Shift_Ins_p.G1598fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1748	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAATATGGCAGGAATGGCTTC	0.426										TCGA Ovarian(4;0.039)																																							0																																										SO:0001589	frameshift_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5243dupG	11.37:g.92531422_92531422dupG	ENSP00000298047:p.Gly1748fs	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDB0|Q96AU6	Frame_Shift_Ins	INS	ENST00000298047.6	37																																																																																					0.426	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781	
FBN1	2200	hgsc.bcm.edu;ucsc.edu	37	15	48725074	48725074	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr15:48725074C>T	ENST00000316623.5	-	55	7183	c.6728G>A	c.(6727-6729)aGg>aAg	p.R2243K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2243	EGF-like 38; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTGCACATCCTACGGTCTTC	0.493																																																	0													174.0	145.0	155.0					15																	48725074		2198	4296	6494	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6728G>A	15.37:g.48725074C>T	ENSP00000325527:p.Arg2243Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721746	0.48728	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.91295	-2.82	6.06	6.06	0.98353	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	N	0.26162	0.8	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	D	0.88145	0.2847	10	0.16420	T	0.52	.	20.2159	0.98296	0.0:1.0:0.0:0.0	.	2243	P35555	FBN1_HUMAN	K	2243;811;1133	ENSP00000325527:R2243K	ENSP00000325527:R2243K	R	-	2	0	FBN1	46512366	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.958000	0.63660	2.882000	0.98803	0.655000	0.94253	AGG		0.493	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			
TMPRSS11BNL	401136	hgsc.bcm.edu;ucsc.edu	37	4	69056948	69056948	+	3'UTR	SNP	G	G	C	rs551554040	byFrequency	TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr4:69056948G>C	ENST00000432593.3	-	0	495				RP11-646E20.6_ENST00000510782.1_RNA|FTLP10_ENST00000503647.1_RNA					TMPRSS11B N-terminal like, pseudogene											autonomic_ganglia(1)	1						TTTTTTGATGGTTAATGTTGG	0.328																																																	0													375.0	296.0	320.0					4																	69056948		692	1589	2281	SO:0001624	3_prime_UTR_variant	100130017					4q13.2	2014-05-09	2014-05-08		ENSG00000226894	ENSG00000250026			37262	pseudogene	pseudogene			"""TMPRSS11B N terminal-like"", ""TMPRSS11B N-terminal like"""				Standard	NR_104048		Approved	FLJ41562	uc003hdv.1		OTTHUMG00000160802	ENST00000432593.3:c.*11C>G	4.37:g.69056948G>C		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000432593.3	37	CCDS47066.1																																																																																				0.328	TMPRSS11BNL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001129907	
HOOK3	84376	hgsc.bcm.edu;ucsc.edu	37	8	42841800	42841800	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr8:42841800A>G	ENST00000307602.4	+	15	1594	c.1394A>G	c.(1393-1395)gAg>gGg	p.E465G		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	465					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TCATTCAGGGAGAAACTTATT	0.328			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													65.0	67.0	66.0					8																	42841800		2203	4300	6503	SO:0001583	missense	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1394A>G	8.37:g.42841800A>G	ENSP00000305699:p.Glu465Gly	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600123	0.87055	.	.	ENSG00000168172	ENST00000307602	T	0.26957	1.7	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	M	0.81341	2.54	0.80722	D	1	P	0.42584	0.784	P	0.54174	0.744	T	0.51301	-0.8723	10	0.56958	D	0.05	-19.1994	15.3927	0.74758	1.0:0.0:0.0:0.0	.	465	Q86VS8	HOOK3_HUMAN	G	465	ENSP00000305699:E465G	ENSP00000305699:E465G	E	+	2	0	HOOK3	42960957	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.850000	0.92190	2.048000	0.60808	0.529000	0.55759	GAG		0.328	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2		NM_032410	
ITGB4	3691	hgsc.bcm.edu;ucsc.edu	37	17	73752790	73752790	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr17:73752790G>A	ENST00000200181.3	+	37	5090	c.4903G>A	c.(4903-4905)Gcc>Acc	p.A1635T	ITGB4_ENST00000339591.3_Missense_Mutation_p.A1618T|ITGB4_ENST00000449880.2_Missense_Mutation_p.A1618T|ITGB4_ENST00000450894.3_Missense_Mutation_p.A1565T|ITGB4_ENST00000579662.1_Missense_Mutation_p.A1565T|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1635					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAGGCTCCGCCTTCACTTT	0.677																																																	0													53.0	53.0	53.0					17																	73752790		2203	4299	6502	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4903G>A	17.37:g.73752790G>A	ENSP00000200181:p.Ala1635Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289923	0.23478	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.52754	0.65;0.65;0.65	5.04	-6.52	0.01872	Fibronectin, type III (1);	0.596637	0.17474	N	0.172983	T	0.17916	0.0430	N	0.08118	0	0.52501	D	0.999953	B;B;B	0.12630	0.001;0.006;0.003	B;B;B	0.08055	0.003;0.003;0.003	T	0.01341	-1.1380	10	0.40728	T	0.16	.	4.503	0.11874	0.4749:0.3022:0.1406:0.0822	.	1618;1565;1635	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	T	1635;1618;1618	ENSP00000200181:A1635T;ENSP00000344079:A1618T;ENSP00000400217:A1618T	ENSP00000200181:A1635T	A	+	1	0	ITGB4	71264385	0.000000	0.05858	0.037000	0.18230	0.471000	0.32888	-0.167000	0.09940	-0.754000	0.04715	-0.379000	0.06801	GCC		0.677	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			
LIPG	9388	hgsc.bcm.edu;ucsc.edu	37	18	47095827	47095827	+	Silent	SNP	C	C	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr18:47095827C>T	ENST00000261292.4	+	4	758	c.480C>T	c.(478-480)ctC>ctT	p.L160L	LIPG_ENST00000580036.1_Silent_p.L160L|LIPG_ENST00000427224.2_Silent_p.L160L|LIPG_ENST00000577628.1_Silent_p.L196L	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	160					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ATTTTTCTCTCGGGAATGTCC	0.542																																					Pancreas(126;280 1778 12814 26243 34948)												0													63.0	59.0	60.0					18																	47095827		2203	4300	6503	SO:0001819	synonymous_variant	9388			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.480C>T	18.37:g.47095827C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B0LPG6|Q6P9C8|Q6UW82	Silent	SNP	ENST00000261292.4	37	CCDS11938.1																																																																																				0.542	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1		NM_006033	
MAML2	84441	hgsc.bcm.edu	37	11	95825401	95825401	+	Silent	SNP	C	C	T	rs564983573	byFrequency	TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr11:95825401C>T	ENST00000524717.1	-	2	3078	c.1794G>A	c.(1792-1794)caG>caA	p.Q598Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	598					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q598Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgctgctgct	0.532			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								C|||	13	0.00259585	0.0008	0.0	5008	,	,		15311	0.0		0.004	False		,,,				2504	0.0082							Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	endometrium(1)											23.0	30.0	28.0					11																	95825401		2070	4064	6134	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1794G>A	11.37:g.95825401C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			
MYBPHL	343263	hgsc.bcm.edu;ucsc.edu	37	1	109838957	109838957	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr1:109838957C>G	ENST00000357155.1	-	6	815	c.766G>C	c.(766-768)Gac>Cac	p.D256H	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	256										central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TCAGAGAAGTCTCGTTGGGCA	0.567																																																	0													103.0	105.0	104.0					1																	109838957		2203	4300	6503	SO:0001583	missense	343263			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.766G>C	1.37:g.109838957C>G	ENSP00000349678:p.Asp256His	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZME5|Q5T2Z7	Missense_Mutation	SNP	ENST00000357155.1	37	CCDS30793.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394434	0.83011	.	.	ENSG00000221986	ENST00000357155	T	0.57273	0.41	5.01	5.01	0.66863	Immunoglobulin-like fold (1);	.	.	.	.	T	0.73737	0.3625	M	0.89715	3.055	0.58432	D	0.999998	D;D	0.89917	1.0;0.991	D;P	0.91635	0.999;0.846	T	0.79422	-0.1810	9	0.87932	D	0	.	15.8558	0.78977	0.0:1.0:0.0:0.0	.	233;256	B7ZME5;A2RUH7	.;MBPHL_HUMAN	H	256	ENSP00000349678:D256H	ENSP00000349678:D256H	D	-	1	0	MYBPHL	109640480	1.000000	0.71417	0.993000	0.49108	0.898000	0.52572	5.149000	0.64863	2.618000	0.88619	0.561000	0.74099	GAC		0.567	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1		NM_001010985	
MYLK4	340156	hgsc.bcm.edu;ucsc.edu	37	6	2689126	2689126	+	Silent	SNP	G	G	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr6:2689126G>T	ENST00000274643.7	-	4	642	c.300C>A	c.(298-300)gtC>gtA	p.V100V	MYLK4_ENST00000268446.5_Silent_p.V100V	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	100						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGAAGCTGTTGACCGCTCCTT	0.463																																																	0													217.0	225.0	222.0					6																	2689126		2203	4300	6503	SO:0001819	synonymous_variant	340156				CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.300C>A	6.37:g.2689126G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RUC0|Q5TAW2	Silent	SNP	ENST00000274643.7	37	CCDS34330.1																																																																																				0.463	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2		NM_001012418	
TENM3	55714	hgsc.bcm.edu;ucsc.edu	37	4	183714250	183714250	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr4:183714250A>T	ENST00000511685.1	+	26	6548	c.6425A>T	c.(6424-6426)tAc>tTc	p.Y2142F	TENM3_ENST00000406950.2_Missense_Mutation_p.Y2142F			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2142					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAAACAGTTTACCTCAATGAA	0.438																																																	0													112.0	108.0	109.0					4																	183714250		1952	4155	6107	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6425A>T	4.37:g.183714250A>T	ENSP00000424226:p.Tyr2142Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	9.703	1.155129	0.21371	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.85955	-2.05;-2.05	4.75	4.75	0.60458	.	.	.	.	.	T	0.79458	0.4449	L	0.36672	1.1	0.52501	D	0.999955	D	0.53885	0.963	B	0.41088	0.347	T	0.82538	-0.0407	9	0.62326	D	0.03	.	14.4319	0.67257	1.0:0.0:0.0:0.0	.	2142	Q9P273	TEN3_HUMAN	F	2142	ENSP00000424226:Y2142F;ENSP00000385276:Y2142F	ENSP00000385276:Y2142F	Y	+	2	0	ODZ3	183951244	1.000000	0.71417	0.318000	0.25279	0.983000	0.72400	3.884000	0.56175	1.992000	0.58205	0.374000	0.22700	TAC		0.438	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			
OR5A2	219981	hgsc.bcm.edu;ucsc.edu	37	11	59190140	59190140	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr11:59190140A>G	ENST00000302040.4	-	1	309	c.287T>C	c.(286-288)gTt>gCt	p.V96A		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GGCACAGCCAACAAAGGAAAT	0.507																																																	0													91.0	87.0	88.0					11																	59190140		2201	4295	6496	SO:0001583	missense	219981			AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.287T>C	11.37:g.59190140A>G	ENSP00000303834:p.Val96Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.688194	0.29962	.	.	ENSG00000172324	ENST00000302040	T	0.00388	7.59	5.47	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.943557	0.08476	U	0.940332	T	0.00144	0.0004	N	0.02225	-0.63	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.09400	-1.0676	10	0.16420	T	0.52	.	7.0088	0.24851	0.7411:0.0:0.2589:0.0	.	96	Q8NGI9	OR5A2_HUMAN	A	96	ENSP00000303834:V96A	ENSP00000303834:V96A	V	-	2	0	OR5A2	58946716	0.000000	0.05858	0.000000	0.03702	0.779000	0.44077	-0.225000	0.09151	0.471000	0.27319	0.477000	0.44152	GTT		0.507	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1		NM_001001954	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52637555	52637555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr3:52637555G>A	ENST00000296302.7	-	17	2762	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R936*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R936*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R921*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R889*			Q86U86	PB1_HUMAN	polybromo 1	921					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R921*(2)|p.R889*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTCTTCTCGTTTTAGTTTA	0.343			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											75.0	73.0	74.0					3																	52637555		2202	4300	6502	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2761C>T	3.37:g.52637555G>A	ENSP00000296302:p.Arg921*	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	40	7.972597	0.98588	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.57	1.62	0.23740	.	0.056697	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6643	0.85248	0.0:0.0:0.3779:0.6221	.	.	.	.	X	889;921;921;921;921;921;936;936;921;880	.	ENSP00000296302:R921X	R	-	1	2	PBRM1	52612595	0.999000	0.42202	0.982000	0.44146	0.992000	0.81027	0.618000	0.24373	0.065000	0.16485	-0.158000	0.13435	CGA		0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDHGB2	56103	hgsc.bcm.edu;ucsc.edu	37	5	140741742	140741742	+	Silent	SNP	G	G	A			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr5:140741742G>A	ENST00000522605.1	+	1	2040	c.2040G>A	c.(2038-2040)gaG>gaA	p.E680E	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	680					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCCGGGAGCCCTCTGACC	0.597																																																	0													63.0	68.0	66.0					5																	140741742		2031	4179	6210	SO:0001819	synonymous_variant	56103			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2040G>A	5.37:g.140741742G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	CCDS54924.1																																																																																				0.597	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1		NM_018923	
PDCD2	5134	hgsc.bcm.edu;ucsc.edu	37	6	170892196	170892196	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr6:170892196T>C	ENST00000541970.1	-	3	685	c.607A>G	c.(607-609)Atg>Gtg	p.M203V	PDCD2_ENST00000443345.2_Missense_Mutation_p.M170V|PDCD2_ENST00000392090.2_Missense_Mutation_p.M170V|PDCD2_ENST00000542896.1_Missense_Mutation_p.M203V|PDCD2_ENST00000537445.1_Missense_Mutation_p.M170V|PDCD2_ENST00000453163.2_Missense_Mutation_p.M203V	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	203					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		ACCTCAGGCATAATCTCATCT	0.363																																					Colon(60;1476 1726 39478)												0													131.0	129.0	129.0					6																	170892196		2203	4300	6503	SO:0001583	missense	5134			AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"""Zinc fingers, MYND-type"""	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.607A>G	6.37:g.170892196T>C	ENSP00000439467:p.Met203Val	Somatic		WXS	Illumina HiSeq	Phase_I	E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Missense_Mutation	SNP	ENST00000541970.1	37	CCDS5316.1	.	.	.	.	.	.	.	.	.	.	.	3.917	-0.018834	0.07681	.	.	ENSG00000071994	ENST00000541970;ENST00000392090;ENST00000542896;ENST00000538195;ENST00000453163;ENST00000537445;ENST00000443345	.	.	.	4.65	-6.86	0.01676	Programmed cell death protein 2, C-terminal (1);	2.708770	0.00718	N	0.000865	T	0.08133	0.0203	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.0;0.001;0.0	T	0.09015	-1.0694	8	.	.	.	-14.5689	1.6598	0.02789	0.3646:0.3085:0.1971:0.1298	.	152;170;203;170;203;203;170	Q7Z6S7;F5GYS7;E9PCU7;Q58HM9;F5H4V9;Q16342;Q58HN0	.;.;.;.;.;PDCD2_HUMAN;.	V	203;170;203;1;203;170;170	.	.	M	-	1	0	PDCD2	170734121	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.644000	0.05415	-1.278000	0.02408	-0.444000	0.05651	ATG		0.363	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043269.2		NM_002598	
PEBP4	157310	hgsc.bcm.edu;ucsc.edu	37	8	22777758	22777758	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr8:22777758T>C	ENST00000256404.6	-	3	288	c.197A>G	c.(196-198)aAc>aGc	p.N66S	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	66						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		CTGTCTGTAGTTGTTACAATC	0.547																																																	0													79.0	84.0	83.0					8																	22777758		1934	4127	6061	SO:0001583	missense	157310			BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"""cousin-of-RKIP 1 protein"""	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.197A>G	8.37:g.22777758T>C	ENSP00000256404:p.Asn66Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5EVA1|Q8WW74	Missense_Mutation	SNP	ENST00000256404.6	37	CCDS43724.1	.	.	.	.	.	.	.	.	.	.	T	3.997	-0.003402	0.07773	.	.	ENSG00000134020	ENST00000256404	T	0.41065	1.01	5.75	2.02	0.26589	.	0.465346	0.21200	N	0.078484	T	0.27489	0.0675	L	0.40543	1.245	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.17440	-1.0369	10	0.25106	T	0.35	-11.5465	4.1359	0.10170	0.1495:0.1639:0.0:0.6866	.	66	Q96S96	PEBP4_HUMAN	S	66	ENSP00000256404:N66S	ENSP00000256404:N66S	N	-	2	0	PEBP4	22833703	0.724000	0.28038	0.002000	0.10522	0.027000	0.11550	1.083000	0.30815	0.100000	0.17581	-0.256000	0.11100	AAC		0.547	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2		NM_144962	
GSAP	54103	hgsc.bcm.edu;ucsc.edu	37	7	76959608	76959608	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr7:76959608T>G	ENST00000257626.7	-	20	1700	c.1622A>C	c.(1621-1623)cAc>cCc	p.H541P	GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	541					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GTTGTTATAGTGGAAGTGTGG	0.478																																																	0													264.0	211.0	229.0					7																	76959608		2203	4300	6503	SO:0001583	missense	54103				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1622A>C	7.37:g.76959608T>G	ENSP00000257626:p.His541Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	T	8.942	0.966136	0.18659	.	.	ENSG00000186088	ENST00000257626;ENST00000415112	T;T	0.33216	2.18;1.42	4.5	-2.6	0.06190	.	0.385300	0.19940	U	0.102670	T	0.23688	0.0573	L	0.54323	1.7	0.09310	N	1	P;B	0.49447	0.924;0.029	P;B	0.44990	0.466;0.015	T	0.12656	-1.0539	10	0.46703	T	0.11	.	2.9711	0.05923	0.3414:0.3304:0.0:0.3282	.	541;541	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	P	541;26	ENSP00000257626:H541P;ENSP00000396230:H26P	ENSP00000257626:H541P	H	-	2	0	PION	76797544	0.045000	0.20229	0.016000	0.15963	0.712000	0.41017	-0.183000	0.09712	-0.204000	0.10235	0.533000	0.62120	CAC		0.478	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2		NM_017439	
PON3	5446	hgsc.bcm.edu;ucsc.edu	37	7	94991745	94991745	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr7:94991745T>C	ENST00000265627.5	-	8	845	c.835A>G	c.(835-837)Att>Gtt	p.I279V	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Intron|PON3_ENST00000451904.1_Silent_p.T261T	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	279					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CCTGCCAAAATGTCTCCTGTG	0.458																																																	0													84.0	79.0	81.0					7																	94991745		2203	4300	6503	SO:0001583	missense	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.835A>G	7.37:g.94991745T>C	ENSP00000265627:p.Ile279Val	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.552001	0.27739	.	.	ENSG00000105852	ENST00000265627	T	0.42900	0.96	4.98	0.0629	0.14346	Six-bladed beta-propeller, TolB-like (1);	0.186202	0.48286	N	0.000200	T	0.37461	0.1004	M	0.65498	2.005	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.24835	-1.0149	10	0.40728	T	0.16	-10.8681	10.6461	0.45621	0.0:0.2265:0.0:0.7735	.	279	Q15166	PON3_HUMAN	V	279	ENSP00000265627:I279V	ENSP00000265627:I279V	I	-	1	0	PON3	94829681	0.846000	0.29590	0.920000	0.36463	0.855000	0.48748	0.515000	0.22801	0.082000	0.17018	0.528000	0.53228	ATT		0.458	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1		NM_000940	
PTRF	284119	hgsc.bcm.edu;ucsc.edu	37	17	40556892	40556892	+	Missense_Mutation	SNP	C	C	A	rs534775609		TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr17:40556892C>A	ENST00000357037.5	-	2	1405	c.986G>T	c.(985-987)cGc>cTc	p.R329L		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTGGCCCTCGCGGATCTTCTT	0.677																																																	0													77.0	68.0	71.0					17																	40556892		2203	4300	6503	SO:0001583	missense	284119			AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.986G>T	17.37:g.40556892C>A	ENSP00000349541:p.Arg329Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000357037.5	37	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264564	0.95399	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.68903	-0.36	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.80819	0.4696	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82663	-0.0346	10	0.62326	D	0.03	-15.8152	17.8979	0.88895	0.0:1.0:0.0:0.0	.	311;329	B4DNU9;Q6NZI2	.;PTRF_HUMAN	L	329;284	ENSP00000349541:R329L	ENSP00000349541:R329L	R	-	2	0	PTRF	37810418	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.604000	0.82830	2.445000	0.82738	0.557000	0.71058	CGC		0.677	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1		NM_012232	
SLC22A4	6583	hgsc.bcm.edu;ucsc.edu	37	5	131662990	131662990	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr5:131662990G>C	ENST00000200652.3	+	5	1019	c.845G>C	c.(844-846)cGa>cCa	p.R282P	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	282					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.R282L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	GAATCTCCCCGATGGCTGATA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											45.0	43.0	43.0					5																	131662990		2203	4300	6503	SO:0001583	missense	6583			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.845G>C	5.37:g.131662990G>C	ENSP00000200652:p.Arg282Pro	Somatic		WXS	Illumina HiSeq	Phase_I	O14546	Missense_Mutation	SNP	ENST00000200652.3	37	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479602	0.84747	.	.	ENSG00000197208	ENST00000200652	T	0.79845	-1.31	5.85	4.98	0.66077	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92941	0.7754	H	0.96805	3.885	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.95145	0.8267	10	0.87932	D	0	.	15.1544	0.72730	0.0678:0.0:0.9322:0.0	.	282	Q9H015	S22A4_HUMAN	P	282	ENSP00000200652:R282P	ENSP00000200652:R282P	R	+	2	0	SLC22A4	131690889	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.199000	0.95003	1.477000	0.48234	0.655000	0.94253	CGA		0.353	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1		NM_003059	
SYNE2	23224	hgsc.bcm.edu;ucsc.edu	37	14	64556348	64556348	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr14:64556348C>G	ENST00000344113.4	+	59	11939	c.11727C>G	c.(11725-11727)atC>atG	p.I3909M	SYNE2_ENST00000554584.1_Missense_Mutation_p.I3942M|SYNE2_ENST00000555002.1_Missense_Mutation_p.I543M|SYNE2_ENST00000358025.3_Missense_Mutation_p.I3909M|SYNE2_ENST00000394768.2_Missense_Mutation_p.I294M|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.I294M	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3909					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTCAAAAATCAAAACTATCC	0.274																																																	0													32.0	34.0	33.0					14																	64556348		2190	4257	6447	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11727C>G	14.37:g.64556348C>G	ENSP00000341781:p.Ile3909Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631041	0.28978	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.62498	0.39;3.55;0.39;0.02;3.75;3.55	5.36	2.52	0.30459	.	0.111692	0.39834	N	0.001252	T	0.58892	0.2154	L	0.59436	1.845	0.80722	D	1	P;P;B;P	0.50943	0.94;0.901;0.138;0.936	P;B;B;P	0.50405	0.546;0.344;0.053;0.64	T	0.56920	-0.7899	10	0.46703	T	0.11	.	2.5002	0.04631	0.1306:0.5188:0.1271:0.2235	.	294;3943;3909;3909	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	M	3909;294;3909;3942;3942;543;294	ENSP00000350719:I3909M;ENSP00000349969:I294M;ENSP00000341781:I3909M;ENSP00000452570:I3942M;ENSP00000450831:I543M;ENSP00000378249:I294M	ENSP00000261678:I3942M	I	+	3	3	SYNE2	63626101	0.999000	0.42202	1.000000	0.80357	0.906000	0.53458	0.415000	0.21181	0.638000	0.30545	-0.378000	0.06908	ATC		0.274	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914	
TBCK	93627	hgsc.bcm.edu	37	4	107168369	107168370	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr4:107168369_107168370insG	ENST00000273980.5	-	11	1304_1305	c.857_858insC	c.(856-858)cctfs	p.P286fs	TBCK_ENST00000361687.4_Frame_Shift_Ins_p.P223fs|TBCK_ENST00000394706.3_Frame_Shift_Ins_p.P247fs|TBCK_ENST00000432496.2_Frame_Shift_Ins_p.P286fs|TBCK_ENST00000394708.2_Frame_Shift_Ins_p.P286fs					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ACAGACTGGCAGGTTTGGTAAA	0.376																																																	0																																										SO:0001589	frameshift_variant	93627				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.858dupC	4.37:g.107168371_107168371dupG	ENSP00000273980:p.Pro286fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000273980.5	37	CCDS54788.1																																																																																				0.376	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4		NM_033115	
TRIM37	4591	hgsc.bcm.edu;ucsc.edu	37	17	57078981	57078981	+	Silent	SNP	G	G	A			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr17:57078981G>A	ENST00000262294.7	-	23	3049	c.2790C>T	c.(2788-2790)gtC>gtT	p.V930V	TRIM37_ENST00000393065.2_Silent_p.V896V|TRIM37_ENST00000393066.3_Silent_p.V930V|TRIM37_ENST00000376149.3_Intron	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	930					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCTGTGTCATGACCATGAAGG	0.502									Mulibrey Nanism																																								0													163.0	134.0	143.0					17																	57078981		2203	4300	6503	SO:0001819	synonymous_variant	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2790C>T	17.37:g.57078981G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000262294.7	37	CCDS32694.1																																																																																				0.502	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1		NM_015294	
UBE2D1	7321	hgsc.bcm.edu;ucsc.edu	37	10	60128517	60128517	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr10:60128517G>C	ENST00000373910.4	+	7	663	c.436G>C	c.(436-438)Gca>Cca	p.A146P		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	146					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						TCAGAAATATGCAATGTAAAA	0.289																																																	0													72.0	73.0	72.0					10																	60128517		2202	4293	6495	SO:0001583	missense	7321			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.436G>C	10.37:g.60128517G>C	ENSP00000363019:p.Ala146Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLF6|A8K786	Missense_Mutation	SNP	ENST00000373910.4	37	CCDS7252.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093447	0.76756	.	.	ENSG00000072401	ENST00000373910	T	0.75367	-0.93	5.72	5.72	0.89469	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.92496	0.7617	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95304	0.8406	10	0.87932	D	0	.	17.3704	0.87376	0.0:0.0:1.0:0.0	.	146	P51668	UB2D1_HUMAN	P	146	ENSP00000363019:A146P	ENSP00000363019:A146P	A	+	1	0	UBE2D1	59798523	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.807000	0.99171	2.695000	0.91970	0.650000	0.86243	GCA		0.289	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2		NM_003338	
VHL	7428	hgsc.bcm.edu	37	3	10183725	10183725	+	Nonsense_Mutation	SNP	C	C	A	rs5030826		TCGA-CZ-5455-01A-01W-1528-10	TCGA-CZ-5455-11A-01W-1528-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	18d638e2-3061-4ea5-8ad5-93559d1eabb0	cd5529f7-7518-4681-8443-92e6d3d8ad6f	g.chr3:10183725C>A	ENST00000256474.2	+	1	1034	c.194C>A	c.(193-195)tCg>tAg	p.S65*	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Nonsense_Mutation_p.S65*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7.0	11.0	9.0					3																	10183725		2133	4211	6344	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>A	3.37:g.10183725C>A	ENSP00000256474:p.Ser65*	Somatic		WXS	Illumina MiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576281	0.86645	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.54	4.67	0.58626	.	0.055860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	rs5030826	.	.	.	X	65	.	ENSP00000256474:S65X	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VSIG10	54621	hgsc.bcm.edu;ucsc.edu	37	12	118506261	118506261	+	Silent	SNP	C	C	T			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr12:118506261C>T	ENST00000359236.5	-	8	1764	c.1488G>A	c.(1486-1488)aaG>aaA	p.K496K		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	496						integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TGTGGTCCTGCTTAGGTATTT	0.493																																																	0													220.0	222.0	221.0					12																	118506261		2069	4205	6274	SO:0001819	synonymous_variant	54621				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1488G>A	12.37:g.118506261C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9NWQ7	Silent	SNP	ENST00000359236.5	37	CCDS44992.1																																																																																				0.493	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2		NM_019086	
XPO5	57510	hgsc.bcm.edu;ucsc.edu	37	6	43492326	43492326	+	Silent	SNP	T	T	C			TCGA-CZ-5455-01A-01D-1501-10	TCGA-CZ-5455-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7066c3fa-4e8c-460c-ba68-a3508fdeb315	d3da7fdd-73e5-49ee-95fc-4d5ae03f0e84	g.chr6:43492326T>C	ENST00000265351.7	-	31	3570	c.3360A>G	c.(3358-3360)gaA>gaG	p.E1120E	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1120					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CCTTCTGTATTTCAGGGATTT	0.488																																																	0													150.0	152.0	151.0					6																	43492326		1919	4123	6042	SO:0001819	synonymous_variant	57510			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.3360A>G	6.37:g.43492326T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	T	9.758	1.169344	0.21621	.	.	ENSG00000124571	ENST00000455285	.	.	.	6.06	1.06	0.20224	.	.	.	.	.	T	0.38348	0.1037	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21724	-1.0237	4	.	.	.	-9.1451	6.7374	0.23417	0.0:0.1989:0.3609:0.4402	.	.	.	.	R	235	.	.	K	-	2	0	XPO5	43600304	0.983000	0.35010	0.998000	0.56505	0.998000	0.95712	0.014000	0.13333	-0.033000	0.13736	0.533000	0.62120	AAA		0.488	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2		NM_020750	
