#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCA6	23460	broad.mit.edu|broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	67124895	67124896	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx|Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr17:67124895_67124896GG>TT	ENST00000284425.2	-	8	1157_1158	c.983_984CC>AA	c.(982-984)aCC>aAA	p.T328K		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	328					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T328N(1)|p.T328T(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CAACCAAATTGGTGAGGACAGC	0.391																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.983_984delinsTT	17.37:g.67124895_67124896delinsTT	ENSP00000284425:p.Thr328Lys		Q6NSH9|Q8N856|Q8WWZ6	Silent|Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1																																																																																				0.391	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1		NM_080284	
AGBL2	79841	broad.mit.edu;ucsc.edu	37	11	47713657	47713657	+	Silent	SNP	T	T	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr11:47713657T>C	ENST00000525123.1	-	9	1131	c.846A>G	c.(844-846)agA>agG	p.R282R	AGBL2_ENST00000298861.4_Silent_p.R282R|AGBL2_ENST00000528244.1_Silent_p.R244R|AGBL2_ENST00000357610.3_Silent_p.R282R|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	282						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R282R(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTACTCACACTCTGACAGCTT	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											165.0	148.0	154.0					11																	47713657		2201	4298	6499	SO:0001819	synonymous_variant	79841				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.846A>G	11.37:g.47713657T>C			A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Silent	SNP	ENST00000525123.1	37	CCDS7944.1																																																																																				0.383	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2		NM_024783	
AHCYL2	23382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129045730	129045730	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr7:129045730G>A	ENST00000325006.3	+	9	1250	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D	AHCYL2_ENST00000531335.2_Missense_Mutation_p.G318D|AHCYL2_ENST00000474594.1_Missense_Mutation_p.G296D|AHCYL2_ENST00000446212.1_Missense_Mutation_p.G297D|RNU7-16P_ENST00000516471.1_RNA|AHCYL2_ENST00000490911.1_Missense_Mutation_p.G296D|AHCYL2_ENST00000446544.2_Missense_Mutation_p.G398D	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	399					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.G399D(1)|p.G296D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GTAGTCTGTGGCTATGGAGAG	0.318																																					Pancreas(160;1736 1964 29875 40941 45605)												2	Substitution - Missense(2)	kidney(2)											186.0	191.0	189.0					7																	129045730		2203	4300	6503	SO:0001583	missense	23382			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1196G>A	7.37:g.129045730G>A	ENSP00000315931:p.Gly399Asp		B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.851382|4.851382	0.91355|0.91355	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|D;D;D;D;D;D	.|0.94862	.|-2.99;-2.99;-3.54;-3.48;-3.51;-3.49	5.83|5.83	5.83|5.83	0.93111|0.93111	.|S-adenosyl-L-homocysteine hydrolase, conserved site (1);S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.100111	.|0.64402	.|D	.|0.000001	D|D	0.98654|0.98654	0.9549|0.9549	H|H	0.99130|0.99130	4.44|4.44	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.993;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.99;1.0;0.996;1.0;0.994	D|D	0.99478|0.99478	1.0947|1.0947	5|10	.|0.87932	.|D	.|0	-17.6876|-17.6876	17.6122|17.6122	0.88056|0.88056	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|296;297;399;296;398	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	T|D	306|399;398;318;296;297;296	.|ENSP00000315931:G399D;ENSP00000413639:G398D;ENSP00000431787:G318D;ENSP00000420459:G296D;ENSP00000405267:G297D;ENSP00000420801:G296D	.|ENSP00000315931:G399D	A|G	+|+	1|2	0|0	AHCYL2|AHCYL2	128832966|128832966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.478000|9.478000	0.97927|0.97927	2.775000|2.775000	0.95449|0.95449	0.650000|0.650000	0.86243|0.86243	GCT|GGC		0.318	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			
APC	324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112178912	112178912	+	Missense_Mutation	SNP	A	A	G	rs587778033		TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr5:112178912A>G	ENST00000457016.1	+	16	8001	c.7621A>G	c.(7621-7623)Atc>Gtc	p.I2541V	APC_ENST00000257430.4_Missense_Mutation_p.I2541V|APC_ENST00000508376.2_Missense_Mutation_p.I2541V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2541	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.I2541V(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAGACTTCCAATCAATAGGTC	0.443		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Substitution - Missense(1)|Unknown(1)	kidney(1)|skin(1)	GRCh37	CM080039	APC	M							86.0	83.0	84.0					5																	112178912		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7621A>G	5.37:g.112178912A>G	ENSP00000413133:p.Ile2541Val		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	0.219	-1.029824	0.02045	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.81659	-1.52;-1.52;-1.52	6.07	0.874	0.19124	Adenomatous polyposis coli protein basic domain (1);	0.325734	0.36665	N	0.002463	T	0.63757	0.2538	N	0.21142	0.635	0.41527	D	0.988434	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.49184	-0.8966	9	.	.	.	-3.3006	9.7758	0.40618	0.7249:0.0:0.2751:0.0	.	2543;2541	Q4LE70;P25054	.;APC_HUMAN	V	2541	ENSP00000413133:I2541V;ENSP00000257430:I2541V;ENSP00000427089:I2541V	.	I	+	1	0	APC	112206811	0.958000	0.32768	0.957000	0.39632	0.891000	0.51852	1.816000	0.38992	0.158000	0.19367	0.533000	0.62120	ATC		0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		NM_000038	
APBB3	10307	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139942267	139942267	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr5:139942267C>T	ENST00000357560.4	-	4	775	c.332G>A	c.(331-333)aGc>aAc	p.S111N	APBB3_ENST00000356738.2_Missense_Mutation_p.S111N|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000508496.2_Intron|APBB3_ENST00000511201.2_Missense_Mutation_p.S111N|APBB3_ENST00000354402.5_Missense_Mutation_p.S111N|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000358580.5_Missense_Mutation_p.S111N|APBB3_ENST00000412920.3_Missense_Mutation_p.S111N	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	111						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S111N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTCCATGCTCTGGATGTA	0.532																																																	1	Substitution - Missense(1)	kidney(1)											106.0	88.0	94.0					5																	139942267		2203	4300	6503	SO:0001583	missense	10307			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.332G>A	5.37:g.139942267C>T	ENSP00000350171:p.Ser111Asn		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	C	0.420	-0.909016	0.02434	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.95;1.95	5.44	2.21	0.28008	.	0.592340	0.18904	N	0.127946	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.28776	-1.0033	9	.	.	.	-3.1243	8.9815	0.35968	0.1108:0.6755:0.0:0.2136	.	111;111	O95704-2;O95704-3	.;.	N	111	ENSP00000351389:S111N;ENSP00000349177:S111N;ENSP00000346378:S111N;ENSP00000350171:S111N;ENSP00000402591:S111N;ENSP00000424317:S111N	.	S	-	2	0	APBB3	139922451	0.022000	0.18835	0.959000	0.39883	0.888000	0.51559	0.166000	0.16583	0.279000	0.22186	-0.797000	0.03246	AGC		0.532	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2		NM_006051	
APOBEC3B	9582	broad.mit.edu;hgsc.bcm.edu	37	22	39380188	39380188	+	Silent	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr22:39380188G>A	ENST00000333467.3	+	2	171	c.126G>A	c.(124-126)aaG>aaA	p.K42K	APOBEC3B_ENST00000402182.3_Silent_p.K42K|APOBEC3B_ENST00000407298.3_Silent_p.K42K	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	42					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K42K(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGAAAATAAAGAGGGGCCGCT	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											44.0	49.0	47.0					22																	39380188		2197	4276	6473	SO:0001819	synonymous_variant	9582			AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.126G>A	22.37:g.39380188G>A			B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Silent	SNP	ENST00000333467.3	37	CCDS13982.1																																																																																				0.488	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1		NM_004900	
ARL6IP6	151188	hgsc.bcm.edu;ucsc.edu	37	2	153591619	153591620	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr2:153591619_153591620delCT	ENST00000326446.5	+	3	1277_1278	c.566_567delCT	c.(565-567)cctfs	p.P189fs	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	189						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						CCTCCTACTCCTCTTTCACCTG	0.376																																																	0																																										SO:0001589	frameshift_variant	151188			AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.566_567delCT	2.37:g.153591621_153591622delCT	ENSP00000315357:p.Pro189fs		B2RDS6|Q7Z4G7	Frame_Shift_Del	DEL	ENST00000326446.5	37	CCDS2197.1																																																																																				0.376	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3		NM_152522	
AVIL	10677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58201174	58201174	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:58201174C>G	ENST00000257861.3	-	12	1861	c.1431G>C	c.(1429-1431)agG>agC	p.R477S	RNU6-1083P_ENST00000384022.1_RNA|RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000550083.1_5'Flank|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000537081.1_Missense_Mutation_p.R470S	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	477	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.R477S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CCGTTCCCATCCTGACTCGAA	0.557																																																	1	Substitution - Missense(1)	kidney(1)											154.0	130.0	138.0					12																	58201174		2203	4300	6503	SO:0001583	missense	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1431G>C	12.37:g.58201174C>G	ENSP00000257861:p.Arg477Ser		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484896	0.26598	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.53857	0.6;0.6	4.77	1.93	0.25924	Gelsolin domain (1);	0.388286	0.30519	N	0.009459	T	0.19327	0.0464	N	0.01134	-0.995	0.28192	N	0.927709	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.16958	-1.0385	10	0.28530	T	0.3	-3.751	7.3412	0.26637	0.1628:0.1455:0.6917:0.0	.	470;477	O75366-2;O75366	.;AVIL_HUMAN	S	470;477	ENSP00000443207:R470S;ENSP00000257861:R477S	ENSP00000257861:R477S	R	-	3	2	AVIL	56487441	0.902000	0.30710	0.999000	0.59377	0.938000	0.57974	0.880000	0.28159	0.313000	0.23062	-0.311000	0.09066	AGG		0.557	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1		NM_006576	
KIAA1549L	25758	broad.mit.edu;ucsc.edu	37	11	33628343	33628343	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr11:33628343A>G	ENST00000321505.4	+	13	4325	c.4145A>G	c.(4144-4146)gAg>gGg	p.E1382G	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1388G			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1382						integral component of membrane (GO:0016021)		p.E1382G(1)									AGGAGCCAGGAGTCATCGGCA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											24.0	27.0	26.0					11																	33628343		2052	4201	6253	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4145A>G	11.37:g.33628343A>G	ENSP00000315295:p.Glu1382Gly		B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.6|25.6	4.659245|4.659245	0.88154|0.88154	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568|ENST00000526400	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.096845|.	0.64402|.	D|.	0.000001|.	T|T	0.57095|0.57095	0.2030|0.2030	L|L	0.34521|0.34521	1.04|1.04	0.44711|0.44711	D|D	0.9977|0.9977	D|.	0.71674|.	0.998|.	D|.	0.71184|.	0.972|.	T|T	0.54029|0.54029	-0.8354|-0.8354	9|5	0.87932|.	D|.	0|.	.|.	15.4844|15.4844	0.75555|0.75555	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1388|.	E9PAT2|.	.|.	G|G	1382;1388;1221|780	.|.	ENSP00000315295:E1382G|.	E|S	+|+	2|1	0|0	C11orf41|C11orf41	33584919|33584919	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.799000|0.799000	0.45148|0.45148	8.129000|8.129000	0.89597|0.89597	2.065000|2.065000	0.61736|0.61736	0.459000|0.459000	0.35465|0.35465	GAG|AGT		0.597	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1		NM_012194	
PRR14L	253143	hgsc.bcm.edu;ucsc.edu	37	22	32109361	32109361	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr22:32109361delA	ENST00000327423.6	-	4	4653	c.4464delT	c.(4462-4464)cttfs	p.L1489fs	PRR14L_ENST00000397493.2_Frame_Shift_Del_p.L1489fs|PRR14L_ENST00000434485.1_Frame_Shift_Del_p.L1489fs	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1489										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GGGCACCAAGAAGGCAAGGAC	0.488																																																	0													262.0	220.0	233.0					22																	32109361		692	1591	2283	SO:0001589	frameshift_variant	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.4464delT	22.37:g.32109361delA	ENSP00000331845:p.Leu1489fs		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Frame_Shift_Del	DEL	ENST00000327423.6	37	CCDS13900.2																																																																																				0.488	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2		NM_173566	
C4orf47	441054	hgsc.bcm.edu;ucsc.edu	37	4	186366122	186366123	+	Frame_Shift_Del	DEL	GT	GT	-	rs201188916	byFrequency	TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr4:186366122_186366123delGT	ENST00000378850.4	+	6	741_742	c.719_720delGT	c.(718-720)ggtfs	p.G241fs		NM_001114357.1	NP_001107829.1	A7E2U8	CD047_HUMAN	chromosome 4 open reading frame 47	241										breast(2)|endometrium(1)	3						TCGCAGCCTGGTGGAATGAAGG	0.376																																																	0																																										SO:0001589	frameshift_variant	441054			AY947525, BC127739, BC141967	CCDS47169.1	4q35.1	2008-07-18			ENSG00000205129	ENSG00000205129			34346	protein-coding gene	gene with protein product						12477932	Standard	NM_001114357		Approved	LOC441054	uc003ixt.2	A7E2U8	OTTHUMG00000160458	ENST00000378850.4:c.719_720delGT	4.37:g.186366122_186366123delGT	ENSP00000368127:p.Gly241fs		Q5BLP7	Frame_Shift_Del	DEL	ENST00000378850.4	37	CCDS47169.1																																																																																				0.376	C4orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360667.1		NM_001114357	
C4orf47	441054	hgsc.bcm.edu	37	4	186366125	186366125	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr4:186366125G>C	ENST00000378850.4	+	6	744	c.722G>C	c.(721-723)gGa>gCa	p.G241A		NM_001114357.1	NP_001107829.1	A7E2U8	CD047_HUMAN	chromosome 4 open reading frame 47	241										breast(2)|endometrium(1)	3						CAGCCTGGTGGAATGAAGGCA	0.373																																																	0													111.0	90.0	96.0					4																	186366125		692	1591	2283	SO:0001583	missense	441054			AY947525, BC127739, BC141967	CCDS47169.1	4q35.1	2008-07-18			ENSG00000205129	ENSG00000205129			34346	protein-coding gene	gene with protein product						12477932	Standard	NM_001114357		Approved	LOC441054	uc003ixt.2	A7E2U8	OTTHUMG00000160458	ENST00000378850.4:c.722G>C	4.37:g.186366125G>C	ENSP00000368127:p.Gly241Ala		Q5BLP7	Missense_Mutation	SNP	ENST00000378850.4	37	CCDS47169.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483147	0.84747	.	.	ENSG00000205129	ENST00000378850	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	D	0.83418	0.5250	M	0.79123	2.44	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.84157	0.0426	8	0.87932	D	0	-3.8624	19.9698	0.97280	0.0:0.0:1.0:0.0	.	241	A7E2U8	CD047_HUMAN	A	241	.	ENSP00000368127:G241A	G	+	2	0	C4orf47	186603119	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.287000	0.78681	2.817000	0.96982	0.563000	0.77884	GGA		0.373	C4orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360667.1		NM_001114357	
CABIN1	23523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24456572	24456572	+	Silent	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr22:24456572C>T	ENST00000398319.2	+	12	1970	c.1585C>T	c.(1585-1587)Ctg>Ttg	p.L529L	CABIN1_ENST00000263119.5_Silent_p.L529L|CABIN1_ENST00000405822.2_Silent_p.L479L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	529					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.L529L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCCAACCCGCTGCTGAGGGA	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											48.0	43.0	44.0					22																	24456572		2203	4300	6503	SO:0001819	synonymous_variant	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1585C>T	22.37:g.24456572C>T			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	CCDS13823.1																																																																																				0.612	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2		NM_012295	
CAV3	859	broad.mit.edu;ucsc.edu	37	3	8787538	8787538	+	Silent	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr3:8787538G>A	ENST00000343849.2	+	2	518	c.441G>A	c.(439-441)ctG>ctA	p.L147L	SSUH2_ENST00000478513.1_5'Flank|CAV3_ENST00000397368.2_Silent_p.L147L|CAV3_ENST00000472766.1_Intron	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	147					actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)	p.L147L(1)		breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						AGGTGGTGCTGCGGAAGGAGG	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	69.0	74.0					3																	8787538		2203	4300	6503	SO:0001819	synonymous_variant	859			AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"""M-caveolin"""	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.441G>A	3.37:g.8787538G>A			A8K777|Q3T1A4	Silent	SNP	ENST00000343849.2	37	CCDS2569.1																																																																																				0.647	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207008.2		NM_033337	
CCDC158	339965	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77292666	77292666	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr4:77292666T>G	ENST00000388914.3	-	9	1205	c.1053A>C	c.(1051-1053)ttA>ttC	p.L351F		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	351								p.L351F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGGCAAGGACTAACTGCTTTT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											101.0	91.0	94.0					4																	77292666		1843	4090	5933	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1053A>C	4.37:g.77292666T>G	ENSP00000373566:p.Leu351Phe		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579586	0.65992	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	D	0.81739	-1.53	5.76	3.32	0.38043	.	0.000000	0.42821	D	0.000657	T	0.78984	0.4370	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78109	-0.2332	10	0.72032	D	0.01	.	5.7282	0.18024	0.0:0.322:0.0:0.678	.	351	Q5M9N0	CD158_HUMAN	F	351	ENSP00000373566:L351F	ENSP00000316815:L351F	L	-	3	2	CCDC158	77511690	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.359000	0.34113	0.975000	0.38392	-0.426000	0.05927	TTA		0.383	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2		NM_001042784	
CCNB2	9133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59408907	59408907	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr15:59408907A>T	ENST00000288207.2	+	6	807	c.616A>T	c.(616-618)Aag>Tag	p.K206*	CCNB2_ENST00000559622.1_Nonsense_Mutation_p.K125*	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	206					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.K206*(1)		kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						AGTTTCCCGGAAGAAGCTTCA	0.403																																																	1	Substitution - Nonsense(1)	kidney(1)											92.0	90.0	90.0					15																	59408907		2191	4291	6482	SO:0001587	stop_gained	9133			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.616A>T	15.37:g.59408907A>T	ENSP00000288207:p.Lys206*		B3KM93|Q6FI99	Nonsense_Mutation	SNP	ENST00000288207.2	37	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	A	37	6.401078	0.97537	.	.	ENSG00000157456	ENST00000288207	.	.	.	5.28	5.28	0.74379	.	0.089570	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6947	0.69113	1.0:0.0:0.0:0.0	.	.	.	.	X	206	.	ENSP00000288207:K206X	K	+	1	0	CCNB2	57196199	1.000000	0.71417	0.965000	0.40720	0.673000	0.39480	8.865000	0.92300	2.125000	0.65367	0.528000	0.53228	AAG		0.403	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1		NM_004701	
CDC20	991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43825663	43825663	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:43825663C>T	ENST00000372462.1	+	4	654	c.451C>T	c.(451-453)Ctc>Ttc	p.L151F	RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Missense_Mutation_p.L151F			Q12834	CDC20_HUMAN	cell division cycle 20	151					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)	p.L151F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACTGAAAGTACTCTACAGCCA	0.517																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)												1	Substitution - Missense(1)	kidney(1)											146.0	160.0	155.0					1																	43825663		2203	4300	6503	SO:0001583	missense	991			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.451C>T	1.37:g.43825663C>T	ENSP00000361540:p.Leu151Phe		B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	CCDS484.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887318	0.91814	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.59638	0.25;0.25	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	M	0.80028	2.48	0.80722	D	1	D	0.55605	0.972	P	0.59546	0.859	T	0.75822	-0.3182	10	0.48119	T	0.1	-21.51	20.3312	0.98718	0.0:1.0:0.0:0.0	.	151	Q12834	CDC20_HUMAN	F	127;151;151	ENSP00000308450:L151F;ENSP00000361540:L151F	ENSP00000308450:L151F	L	+	1	0	CDC20	43598250	1.000000	0.71417	0.941000	0.38009	0.993000	0.82548	5.989000	0.70587	2.797000	0.96272	0.655000	0.94253	CTC		0.517	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1		NM_001255	
CLSTN3	9746	broad.mit.edu;ucsc.edu	37	12	7295478	7295478	+	Silent	SNP	G	G	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:7295478G>T	ENST00000266546.6	+	11	2004	c.1554G>T	c.(1552-1554)tcG>tcT	p.S518S	CLSTN3_ENST00000537408.1_Silent_p.S530S	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	518					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.S518S(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCCTTTGTCGATCCACCACT	0.577											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											122.0	93.0	103.0					12																	7295478		2203	4300	6503	SO:0001819	synonymous_variant	9746			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1554G>T	12.37:g.7295478G>T		640	D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	CCDS8575.1																																																																																				0.577	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2		NM_014718	
DBN1	1627	broad.mit.edu;ucsc.edu	37	5	176894265	176894265	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr5:176894265C>A	ENST00000309007.5	-	6	765	c.546G>T	c.(544-546)gaG>gaT	p.E182D	DBN1_ENST00000292385.5_Missense_Mutation_p.E184D|DBN1_ENST00000393565.1_Missense_Mutation_p.E182D	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	182					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.E182D(1)|p.E184D(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTTGGCCTGCTCCCAGAACT	0.612																																																	2	Substitution - Missense(2)	kidney(2)											259.0	274.0	269.0					5																	176894265		2203	4300	6503	SO:0001583	missense	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.546G>T	5.37:g.176894265C>A	ENSP00000308532:p.Glu182Asp		A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806502	0.70682	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.42513	0.97;0.97;1.57	5.06	2.36	0.29203	.	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.996;0.998;0.999;0.999	D;D;D;D	0.81914	0.987;0.99;0.985;0.995	T	0.47195	-0.9136	10	0.41790	T	0.15	-21.079	8.2296	0.31590	0.0:0.6248:0.0:0.3752	.	132;182;182;184	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	D	182;184;182;181	ENSP00000308532:E182D;ENSP00000292385:E184D;ENSP00000377195:E182D	ENSP00000292385:E184D	E	-	3	2	DBN1	176826871	0.597000	0.26874	1.000000	0.80357	0.978000	0.69477	-0.177000	0.09796	0.337000	0.23665	0.561000	0.74099	GAG		0.612	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2		NM_080881	
DDX24	57062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94519372	94519372	+	Silent	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr14:94519372C>T	ENST00000330836.5	-	8	2411	c.2280G>A	c.(2278-2280)gaG>gaA	p.E760E	DDX24_ENST00000553400.1_5'Flank|DDX24_ENST00000555054.1_Silent_p.E717E|DDX24_ENST00000544005.1_Silent_p.E510E	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	760					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.E760E(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCAGCTCAATCTCCAGGGCAG	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	77.0	78.0					14																	94519372		2203	4300	6503	SO:0001819	synonymous_variant	57062			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2280G>A	14.37:g.94519372C>T			E7EMJ4|Q4V9L5	Silent	SNP	ENST00000330836.5	37	CCDS9918.1																																																																																				0.478	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1		NM_020414	
DIS3	22894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	73347935	73347935	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr13:73347935C>G	ENST00000377767.4	-	8	1226	c.1126G>C	c.(1126-1128)Gct>Cct	p.A376P	DIS3_ENST00000545453.1_Missense_Mutation_p.A214P|DIS3_ENST00000377780.4_Missense_Mutation_p.A346P	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	376					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.A376P(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTCTTATCAGCAGGTGTAAAG	0.378										Multiple Myeloma(4;0.011)																																							1	Substitution - Missense(1)	kidney(1)											93.0	90.0	91.0					13																	73347935		2203	4300	6503	SO:0001583	missense	22894			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1126G>C	13.37:g.73347935C>G	ENSP00000366997:p.Ala376Pro		A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	33	5.193585	0.94960	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.30981	1.51;1.51;1.51	5.63	5.63	0.86233	.	0.046479	0.85682	D	0.000000	T	0.61702	0.2368	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.969	T	0.59359	-0.7469	10	0.33940	T	0.23	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	346;376	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	P	376;346;214	ENSP00000366997:A376P;ENSP00000367011:A346P;ENSP00000440058:A214P	ENSP00000366997:A376P	A	-	1	0	DIS3	72245936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.376000	0.79658	2.805000	0.96524	0.655000	0.94253	GCT		0.378	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2		NM_014953	
DNM1L	10059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	32886681	32886681	+	Silent	SNP	T	T	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:32886681T>C	ENST00000549701.1	+	13	1553	c.1479T>C	c.(1477-1479)taT>taC	p.Y493Y	DNM1L_ENST00000452533.2_Silent_p.Y493Y|DNM1L_ENST00000266481.6_Silent_p.Y493Y|DNM1L_ENST00000414834.2_Silent_p.Y290Y|DNM1L_ENST00000381000.4_Silent_p.Y506Y|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000553257.1_Silent_p.Y506Y|DNM1L_ENST00000358214.5_Silent_p.Y506Y|DNM1L_ENST00000547312.1_Silent_p.Y493Y			O00429	DNM1L_HUMAN	dynamin 1-like	493	Interaction with GSK3B.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.Y493Y(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AACTGGCTTATATCAACACAA	0.299																																																	1	Substitution - coding silent(1)	kidney(1)											202.0	209.0	207.0					12																	32886681		2203	4300	6503	SO:0001819	synonymous_variant	10059			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1479T>C	12.37:g.32886681T>C			A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Silent	SNP	ENST00000549701.1	37	CCDS8729.1																																																																																				0.299	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1		NM_012062	
DOCK2	1794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	169474616	169474616	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr5:169474616C>T	ENST00000256935.8	+	40	4149	c.4069C>T	c.(4069-4071)Cgg>Tgg	p.R1357W	DOCK2_ENST00000540750.1_Missense_Mutation_p.R418W|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R849W	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1357	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R1357W(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTTCCTGCGGGTGAGTTT	0.542																																																	1	Substitution - Missense(1)	kidney(1)											68.0	68.0	68.0					5																	169474616		2203	4300	6503	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4069C>T	5.37:g.169474616C>T	ENSP00000256935:p.Arg1357Trp		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983404	0.74474	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.12465	3.34;2.96;2.68	5.21	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	M	0.92507	3.315	0.41599	D	0.988849	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.60811	-0.7189	10	0.87932	D	0	.	14.8729	0.70471	0.1947:0.8053:0.0:0.0	.	849;1357	E7ERW7;Q92608	.;DOCK2_HUMAN	W	1357;849;418	ENSP00000256935:R1357W;ENSP00000429283:R849W;ENSP00000438827:R418W	ENSP00000256935:R1357W	R	+	1	2	DOCK2	169407194	0.901000	0.30685	1.000000	0.80357	0.859000	0.49053	1.258000	0.32944	2.419000	0.82065	0.561000	0.74099	CGG		0.542	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946	
DSEL	92126	broad.mit.edu;ucsc.edu	37	18	65180323	65180323	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr18:65180323G>C	ENST00000310045.7	-	2	3026	c.1553C>G	c.(1552-1554)tCa>tGa	p.S518*	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	508					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.S518*(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACACTGGCTTGAGGGTGATGG	0.483																																																	1	Substitution - Nonsense(1)	kidney(1)											76.0	67.0	70.0					18																	65180323		2203	4300	6503	SO:0001587	stop_gained	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1553C>G	18.37:g.65180323G>C	ENSP00000310565:p.Ser518*		Q17RH1|Q6P5Z3	Nonsense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	50	16.781355	0.99872	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	.	.	.	5.46	5.46	0.80206	.	0.203046	0.40728	N	0.001040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.086	18.9139	0.92496	0.0:0.0:1.0:0.0	.	.	.	.	X	518;508	.	ENSP00000310565:S518X	S	-	2	0	DSEL	63331303	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	6.461000	0.73522	2.577000	0.86979	0.563000	0.77884	TCA		0.483	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1		NM_032160	
HRNR	388697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152191542	152191542	+	Missense_Mutation	SNP	C	C	T	rs202201629		TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:152191542C>T	ENST00000368801.2	-	3	2638	c.2563G>A	c.(2563-2565)Ggc>Agc	p.G855S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	855					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G855S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGTTGGCCGGAGCTTGAT	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22321	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						C	SER/GLY	0,4406		0,0,2203	138.0	142.0	140.0		2563	-1.6	0.0	1		140	1,8599	1.2+/-3.3	0,1,4299	no	missense	HRNR	NM_001009931.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	855/2851	152191542	1,13005	2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2563G>A	1.37:g.152191542C>T	ENSP00000357791:p.Gly855Ser		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	8.002	0.755587	0.15846	0.0	1.16E-4	ENSG00000197915	ENST00000368801	T	0.16897	2.31	3.05	-1.6	0.08426	.	.	.	.	.	T	0.02571	0.0078	L	0.43152	1.355	0.09310	N	1	P	0.48162	0.906	B	0.27380	0.079	T	0.45366	-0.9266	9	0.19590	T	0.45	.	7.6618	0.28407	0.0:0.4138:0.0:0.5862	.	855	Q86YZ3	HORN_HUMAN	S	855	ENSP00000357791:G855S	ENSP00000357791:G855S	G	-	1	0	HRNR	150458166	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.677000	0.05215	-0.509000	0.06532	0.505000	0.49811	GGC		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868	
HSPA8	3312	broad.mit.edu	37	11	122930276	122930276	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr11:122930276C>G	ENST00000532636.1	-	5	1144	c.1025G>C	c.(1024-1026)cGt>cCt	p.R342P	SNORD14C_ENST00000365382.1_RNA|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.R342P|HSPA8_ENST00000534624.1_Missense_Mutation_p.R342P|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.R342P|HSPA8_ENST00000533540.1_Missense_Mutation_p.R196P|HSPA8_ENST00000526110.1_Missense_Mutation_p.R323P|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.R106P			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	342	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.R342P(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTTGGGGATACGAGTAGAACC	0.463																																					Colon(21;486 594 5900 6733 14272)												1	Substitution - Missense(1)	kidney(1)											78.0	79.0	79.0					11																	122930276		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1025G>C	11.37:g.122930276C>G	ENSP00000437125:p.Arg342Pro		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439541	0.83885	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0;4.0;4.0	4.65	4.65	0.58169	Heat shock protein 70, conserved site (1);	0.057981	0.64402	D	0.000007	T	0.41213	0.1149	H	0.99968	5.105	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.989;1.0	D;P;P;D	0.79784	0.993;0.686;0.559;0.993	T	0.73563	-0.3943	10	0.87932	D	0	-7.1891	17.9506	0.89052	0.0:1.0:0.0:0.0	.	342;342;342;342	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	P	342;196;342;342;342;106;323;282	ENSP00000437125:R342P;ENSP00000437189:R196P;ENSP00000432083:R342P;ENSP00000404372:R342P;ENSP00000227378:R342P;ENSP00000433316:R106P;ENSP00000433584:R323P;ENSP00000432884:R282P	ENSP00000227378:R342P	R	-	2	0	HSPA8	122435486	1.000000	0.71417	0.397000	0.26308	0.957000	0.61999	7.683000	0.84093	2.308000	0.77769	0.556000	0.70494	CGT		0.463	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			
ITGA7	3679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56096858	56096858	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:56096858T>C	ENST00000555728.1	-	2	339	c.311A>G	c.(310-312)tAc>tGc	p.Y104C	ITGA7_ENST00000347027.6_Missense_Mutation_p.Y104C|ITGA7_ENST00000257880.7_Missense_Mutation_p.Y104C|ITGA7_ENST00000553804.1_Missense_Mutation_p.Y104C|ITGA7_ENST00000257879.6_Missense_Mutation_p.Y104C|ITGA7_ENST00000394230.2_Missense_Mutation_p.Y104C|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394229.2_Missense_Mutation_p.Y104C			Q13683	ITA7_HUMAN	integrin, alpha 7	104					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.Y104C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTCCACTCTGTAGCAGTCAGT	0.642																																																	2	Substitution - Missense(2)	kidney(2)											112.0	102.0	105.0					12																	56096858		2203	4300	6503	SO:0001583	missense	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.311A>G	12.37:g.56096858T>C	ENSP00000452387:p.Tyr104Cys		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37		.	.	.	.	.	.	.	.	.	.	T	16.07	3.018745	0.54576	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	4.35	3.17	0.36434	.	0.496615	0.19624	N	0.109838	D	0.82370	0.5022	L	0.43152	1.355	0.37456	D	0.915019	P;D	0.62365	0.804;0.991	P;P	0.52267	0.694;0.619	T	0.81393	-0.0953	10	0.52906	T	0.07	.	5.1003	0.14756	0.183:0.0:0.1904:0.6266	.	104;167	Q13683-3;Q4LE35	.;.	C	104	ENSP00000452120:Y104C;ENSP00000257879:Y104C;ENSP00000343009:Y104C;ENSP00000257880:Y104C;ENSP00000377777:Y104C;ENSP00000377776:Y104C;ENSP00000452387:Y104C	ENSP00000257879:Y104C	Y	-	2	0	ITGA7	54383125	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.933000	0.28897	0.801000	0.34066	0.402000	0.26972	TAC		0.642	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1		NM_002206	
KDM5B	10765	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202733213	202733213	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:202733213G>A	ENST00000367265.3	-	6	1936	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	KDM5B_ENST00000367264.2_Missense_Mutation_p.R294C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	258					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R258C(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCCATTCGACGTCTCAGATTA	0.308																																																	1	Substitution - Missense(1)	kidney(1)											108.0	99.0	102.0					1																	202733213		2203	4300	6503	SO:0001583	missense	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.772C>T	1.37:g.202733213G>A	ENSP00000356234:p.Arg258Cys		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008497	0.93346	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.86432	-2.0;-1.8;-2.12	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.71184	0.972;0.836	D	0.92221	0.5784	10	0.54805	T	0.06	-16.842	19.879	0.96888	0.0:0.0:1.0:0.0	.	294;258	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	258;100;294;100	ENSP00000356234:R258C;ENSP00000356233:R294C;ENSP00000235790:R100C	ENSP00000235790:R100C	R	-	1	0	KDM5B	200999836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.099000	0.64554	2.695000	0.91970	0.655000	0.94253	CGT		0.308	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2		NM_006618	
CEP162	22832	hgsc.bcm.edu	37	6	84896316	84896316	+	Missense_Mutation	SNP	C	C	T	rs199518175|rs202045843	byFrequency	TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr6:84896316C>T	ENST00000403245.3	-	12	1249	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.E303K	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AATTCAGTTTCTTTTCTTTCG	0.343																																																	0													66.0	71.0	70.0					6																	84896316		2201	4290	6491	SO:0001583	missense	22832																														ENST00000403245.3:c.1135G>A	6.37:g.84896316C>T	ENSP00000385215:p.Glu379Lys			Missense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634736	0.29068	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.14766	2.48;2.48	5.41	4.47	0.54385	.	0.722985	0.13756	N	0.364968	T	0.04724	0.0128	L	0.38838	1.175	0.26234	N	0.978968	B;P	0.46142	0.023;0.873	B;B	0.42361	0.011;0.385	T	0.26677	-1.0096	10	0.29301	T	0.29	-7.0872	6.6893	0.23161	0.0:0.8408:0.0:0.1592	.	379;379	Q5TB80;C9JFM9	QN1_HUMAN;.	K	303;379	ENSP00000257766:E303K;ENSP00000385215:E379K	ENSP00000257766:E303K	E	-	1	0	KIAA1009	84953035	0.953000	0.32496	0.981000	0.43875	0.776000	0.43924	1.075000	0.30716	2.812000	0.96745	0.557000	0.71058	GAA		0.343	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			
KIF14	9928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200587085	200587085	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:200587085T>C	ENST00000367350.4	-	2	1205	c.767A>G	c.(766-768)cAt>cGt	p.H256R		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	256	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.H256R(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AATACTTCTATGATACAAGTT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											185.0	188.0	187.0					1																	200587085		2203	4300	6503	SO:0001583	missense	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.767A>G	1.37:g.200587085T>C	ENSP00000356319:p.His256Arg		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	9.485	1.099208	0.20552	.	.	ENSG00000118193	ENST00000367350	T	0.72282	-0.64	5.04	1.1	0.20463	.	0.739939	0.12570	N	0.457410	T	0.44095	0.1277	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27571	-1.0070	10	0.06236	T	0.91	.	5.2022	0.15271	0.0:0.154:0.2862:0.5597	.	256	Q15058	KIF14_HUMAN	R	256	ENSP00000356319:H256R	ENSP00000356319:H256R	H	-	2	0	KIF14	198853708	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	-0.047000	0.11963	-0.071000	0.12886	0.477000	0.44152	CAT		0.373	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1		NM_014875	
KIF1C	10749	broad.mit.edu	37	17	4924146	4924146	+	Silent	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr17:4924146C>T	ENST00000320785.5	+	21	2340	c.1983C>T	c.(1981-1983)gcC>gcT	p.A661A	AC109333.10_ENST00000438266.1_RNA|KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	661					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.A661A(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGGAAGAAGCCGATCTTCTGC	0.582																																					Melanoma(96;1023 1447 10250 19259 33730)												1	Substitution - coding silent(1)	kidney(1)											23.0	20.0	21.0					17																	4924146		2202	4298	6500	SO:0001819	synonymous_variant	10749			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1983C>T	17.37:g.4924146C>T			D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	CCDS11065.1																																																																																				0.582	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			
LINC00691	152024	broad.mit.edu	37	3	24138196	24138196	+	lincRNA	DEL	T	T	-			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr3:24138196delT	ENST00000436123.1	-	0	2527									long intergenic non-protein coding RNA 691																		TTTTTTCCTGTTTTTTTTGAA	0.333																																																	0																																												0					3p24.2	2012-11-13			ENSG00000224074	ENSG00000224074		"""Long non-coding RNAs"""	44514	non-coding RNA	RNA, long non-coding							Standard	NR_026834		Approved		uc003ccv.2		OTTHUMG00000155662		3.37:g.24138196delT				RNA	DEL	ENST00000436123.1	37																																																																																					0.333	LINC00691-003	KNOWN	mRNA_start_NF|basic	lincRNA	lincRNA	OTTHUMT00000341066.1			
Unknown	0	broad.mit.edu	37	15	21935217	21935221	+	IGR	DEL	AAAAC	AAAAC	-	rs398057496|rs199637799|rs56133249|rs138804430|rs200705316	byFrequency	TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	AAAAC	AAAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr15:21935217_21935221delAAAAC								RP11-854K16.3 (599793 upstream) : RP11-32B5.7 (5925 downstream)																							TACCTATTTGAAAACAAAACAAAAG	0.302														2252	0.449681	0.3601	0.5173	5008	,	,		48959	0.4921		0.4761	False		,,,				2504	0.4519																0																																										SO:0001628	intergenic_variant	646214																															15.37:g.21935222_21935226delAAAAC				RNA	DEL		37																																																																																				0	0.302									
MDN1	23195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90358035	90358035	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr6:90358035G>C	ENST00000369393.3	-	98	16335	c.16220C>G	c.(16219-16221)tCt>tGt	p.S5407C	MDN1_ENST00000428876.1_Missense_Mutation_p.S5407C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5407	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.S5407C(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACAGCCAAAGATTCAAATGC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											91.0	89.0	90.0					6																	90358035		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16220C>G	6.37:g.90358035G>C	ENSP00000358400:p.Ser5407Cys		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006689	0.54361	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.22743	1.94;1.94	6.17	6.17	0.99709	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.85041	2.73	0.54753	D	0.999988	D	0.89917	1.0	D	0.71184	0.972	T	0.50625	-0.8806	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	5407	Q9NU22	MDN1_HUMAN	C	5407	ENSP00000358400:S5407C;ENSP00000413970:S5407C	ENSP00000358400:S5407C	S	-	2	0	MDN1	90414756	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.035000	0.93752	2.941000	0.99782	0.655000	0.94253	TCT		0.373	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			
METTL7B	196410	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56076036	56076036	+	Splice_Site	SNP	G	G	A	rs144071589		TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:56076036G>A	ENST00000394252.3	+	1	707	c.498G>A	c.(496-498)ccG>ccA	p.P166P		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	166							methyltransferase activity (GO:0008168)	p.P116P(1)|p.P166P(1)		kidney(1)|large_intestine(1)|lung(4)	6						TACTGAGACCGGTAAGCAGGG	0.622																																																	2	Substitution - coding silent(2)	kidney(2)						G		0,4406		0,0,2203	30.0	27.0	28.0		498	3.0	1.0	12	dbSNP_134	28	1,8597		0,1,4298	no	coding-synonymous-near-splice	METTL7B	NM_152637.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		166/245	56076036	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	196410				CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.498+1G>A	12.37:g.56076036G>A			A8K247|Q8WUI1	Silent	SNP	ENST00000394252.3	37	CCDS8887.2																																																																																				0.622	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1		NM_152637	Silent
MFSD2A	84879	broad.mit.edu;ucsc.edu	37	1	40435189	40435189	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:40435189C>A	ENST00000372809.5	+	14	1724	c.1581C>A	c.(1579-1581)agC>agA	p.S527R	MFSD2A_ENST00000372811.5_Missense_Mutation_p.S514R|MFSD2A_ENST00000420632.2_Missense_Mutation_p.S358R|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	527					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)	p.S514R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ACGAGGCCAGCAGCTCTGGCT	0.602																																																	1	Substitution - Missense(1)	kidney(1)											45.0	43.0	44.0					1																	40435189		2203	4300	6503	SO:0001583	missense	84879			AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1581C>A	1.37:g.40435189C>A	ENSP00000361895:p.Ser527Arg		A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613971	0.28712	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	.	.	.	5.16	2.08	0.27032	.	0.440276	0.26967	N	0.021583	T	0.22205	0.0535	N	0.08118	0	0.33651	D	0.608424	B;B	0.14012	0.009;0.004	B;B	0.12156	0.004;0.007	T	0.14727	-1.0462	9	0.22109	T	0.4	-15.8634	6.2821	0.21013	0.1468:0.6861:0.0:0.1671	.	527;514	Q8NA29;Q8NA29-2	MFS2A_HUMAN;.	R	514;358;527	.	ENSP00000361895:S527R	S	+	3	2	MFSD2A	40207776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.860000	0.27871	0.688000	0.31529	0.655000	0.94253	AGC		0.602	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1		NM_032793	
MFSD5	84975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53647588	53647588	+	Silent	SNP	C	C	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:53647588C>G	ENST00000329548.4	+	2	1160	c.969C>G	c.(967-969)gtC>gtG	p.V323V	MFSD5_ENST00000534842.1_Silent_p.V430V	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	323					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V323V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TCATCGTCGTCTTCTCTCTCT	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											144.0	123.0	130.0					12																	53647588		2203	4300	6503	SO:0001819	synonymous_variant	84975			AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.969C>G	12.37:g.53647588C>G			G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Silent	SNP	ENST00000329548.4	37	CCDS8851.1																																																																																				0.537	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1		NM_032889	
MIR380	494329	broad.mit.edu	37	14	101490139	101490139	+	RNA	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr14:101490139G>A	ENST00000362112.2	-	0	111				MIR379_ENST00000362218.3_RNA|MIR329-1_ENST00000385028.1_RNA|MIR411_ENST00000362239.2_RNA|MIR323A_ENST00000362199.1_RNA|MIR299_ENST00000385016.2_RNA|MIR1197_ENST00000408818.1_RNA|MIR758_ENST00000390227.1_RNA	NR_029872.1				microRNA 380																		TGAAGAAATGGTTTACCGTCC	0.517																																																	0													53.0	52.0	52.0					14																	101490139		1568	3582	5150			407023					14q32.31	2013-02-12		2008-12-18		ENSG00000198982		"""ncRNAs / Micro RNAs"""	31873	non-coding RNA	RNA, micro		613654		MIRN380			Standard	NR_029872		Approved	hsa-mir-380	uc010awb.1				14.37:g.101490139G>A				RNA	SNP	ENST00000362112.2	37																																																																																					0.517	MIR380-201	KNOWN	basic	miRNA	miRNA			NR_029872	
MKRN3	7681	broad.mit.edu;ucsc.edu	37	15	23811842	23811842	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr15:23811842C>T	ENST00000314520.3	+	1	1389	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	305					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R305C(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGCTGTGCAGCGTGGTATGGA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											104.0	92.0	96.0					15																	23811842		2203	4300	6503	SO:0001583	missense	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.913C>T	15.37:g.23811842C>T	ENSP00000313881:p.Arg305Cys			Missense_Mutation	SNP	ENST00000314520.3	37	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160425	0.38119	.	.	ENSG00000179455	ENST00000314520	T	0.36699	1.24	4.07	2.18	0.27775	.	0.055204	0.64402	D	0.000001	T	0.34832	0.0911	M	0.89601	3.045	0.80722	D	1	P	0.43909	0.821	B	0.27076	0.076	T	0.41448	-0.9508	10	0.72032	D	0.01	.	6.8412	0.23963	0.1756:0.7286:0.0:0.0957	.	305	Q13064	MKRN3_HUMAN	C	305	ENSP00000313881:R305C	ENSP00000313881:R305C	R	+	1	0	MKRN3	21362935	1.000000	0.71417	0.959000	0.39883	0.012000	0.07955	4.344000	0.59354	0.676000	0.31285	0.655000	0.94253	CGT		0.522	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1		NM_005664	
Unknown	0	broad.mit.edu	37	1	16975030	16975030	+	IGR	SNP	G	G	A	rs397688744		TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:16975030G>A								CROCCP2 (13976 upstream) : RNU1-3 (18249 downstream)																							CTCGGTTCACGTTTACCTCCG	0.607																																																	0																																										SO:0001628	intergenic_variant	11209																															1.37:g.16975030G>A				RNA	SNP		37																																																																																				0	0.607									
MUC4	4585	broad.mit.edu	37	3	195509939	195509939	+	Missense_Mutation	SNP	G	G	T	rs202039836	byFrequency	TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr3:195509939G>T	ENST00000463781.3	-	2	8971	c.8512C>A	c.(8512-8514)Cct>Act	p.P2838T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2838T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P2838T(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGGGATGGTGACA	0.592													.|||	318	0.0634984	0.0045	0.0432	5008	,	,		7871	0.0417		0.1521	False		,,,				2504	0.089																3	Substitution - Missense(3)	kidney(3)											102.0	63.0	75.0					3																	195509939		690	1569	2259	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8512C>A	3.37:g.195509939G>T	ENSP00000417498:p.Pro2838Thr		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	3.466	-0.108992	0.06924	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29917	1.55;1.55	.	.	.	.	.	.	.	.	T	0.10551	0.0258	N	0.08118	0	0.09310	N	1	P	0.38110	0.618	B	0.28638	0.092	T	0.19386	-1.0307	7	.	.	.	.	4.5444	0.12074	0.0:0.4166:0.5833:0.0	.	2710	E7ESK3	.	T	2838	ENSP00000417498:P2838T;ENSP00000420243:P2838T	.	P	-	1	0	MUC4	196994718	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.690000	0.00392	-0.000000	0.14550	0.000000	0.15137	CCT		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NOMO2	283820	broad.mit.edu	37	16	18573208	18573208	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr16:18573208G>C	ENST00000381474.3	-	1	220	c.155C>G	c.(154-156)tCg>tGg	p.S52W	NOMO2_ENST00000330537.6_Missense_Mutation_p.S52W|NOMO2_ENST00000543392.1_5'UTR	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	52						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S52W(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CTCGATGAGCGAGTAGTTGAT	0.726																																																	1	Substitution - Missense(1)	kidney(1)											16.0	17.0	17.0					16																	18573208		2166	4238	6404	SO:0001583	missense	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.155C>G	16.37:g.18573208G>C	ENSP00000370883:p.Ser52Trp		Q4G177	Missense_Mutation	SNP	ENST00000381474.3	37	CCDS32394.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.239998	0.79912	.	.	ENSG00000185164	ENST00000330537;ENST00000381474	T;T	0.06068	3.36;3.35	2.88	2.88	0.33553	.	0.157217	0.43579	U	0.000558	T	0.23171	0.0560	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	P	0.61800	0.894	T	0.08889	-1.0700	10	0.87932	D	0	-0.4586	12.3822	0.55313	0.0:0.0:1.0:0.0	.	52	Q5JPE7	NOMO2_HUMAN	W	52	ENSP00000331851:S52W;ENSP00000370883:S52W	ENSP00000331851:S52W	S	-	2	0	NOMO2	18480709	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.093000	0.89531	1.416000	0.47057	0.455000	0.32223	TCG		0.726	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1		NM_001004060	
NUAK2	81788	broad.mit.edu;ucsc.edu	37	1	205290624	205290624	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:205290624G>A	ENST00000367157.3	-	1	259	c.133C>T	c.(133-135)Cac>Tac	p.H45Y		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2									p.H45Y(2)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGTGCTTGTGGTGGTGCCGC	0.667																																																	2	Substitution - Missense(2)	kidney(2)											55.0	55.0	55.0					1																	205290624		2203	4300	6503	SO:0001583	missense	81788			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.133C>T	1.37:g.205290624G>A	ENSP00000356125:p.His45Tyr			Missense_Mutation	SNP	ENST00000367157.3	37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539675	0.96474	.	.	ENSG00000163545	ENST00000367157	T	0.73575	-0.76	5.44	5.44	0.79542	Protein kinase-like domain (1);	0.000000	0.41605	D	0.000859	T	0.81446	0.4824	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83418	0.0031	10	0.87932	D	0	.	18.8663	0.92293	0.0:0.0:1.0:0.0	.	45	Q9H093	NUAK2_HUMAN	Y	45	ENSP00000356125:H45Y	ENSP00000356125:H45Y	H	-	1	0	NUAK2	203557247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.641000	0.98458	2.545000	0.85829	0.561000	0.74099	CAC		0.667	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1		NM_030952	
OR11L1	391189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	248004727	248004727	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:248004727G>T	ENST00000355784.2	-	1	527	c.472C>A	c.(472-474)Ctg>Atg	p.L158M		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	158						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L158M(1)|p.L158L(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGGAAGGCAGAAAGCCTGTG	0.582																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											83.0	82.0	82.0					1																	248004727		2203	4300	6503	SO:0001583	missense	391189			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.472C>A	1.37:g.248004727G>T	ENSP00000348033:p.Leu158Met			Missense_Mutation	SNP	ENST00000355784.2	37	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	9.418	1.082268	0.20309	.	.	ENSG00000197591	ENST00000355784	T	0.39997	1.05	4.42	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.307323	0.17778	U	0.162355	T	0.40767	0.1130	L	0.45285	1.41	0.09310	N	1	B	0.33299	0.407	B	0.42959	0.403	T	0.35076	-0.9803	10	0.52906	T	0.07	.	8.9814	0.35968	0.0824:0.4128:0.5048:0.0	.	158	Q8NGX0	O11L1_HUMAN	M	158	ENSP00000348033:L158M	ENSP00000348033:L158M	L	-	1	2	OR11L1	246071350	0.000000	0.05858	0.600000	0.28864	0.545000	0.35147	-0.671000	0.05250	0.591000	0.29711	-0.324000	0.08512	CTG		0.582	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1		NM_001001959	
PALM3	342979	broad.mit.edu;ucsc.edu	37	19	14165245	14165245	+	Silent	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr19:14165245C>T	ENST00000340790.4	-	6	1193	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A		NM_001145028.1	NP_001138500.1	A6NDB9	PALM3_HUMAN	paralemmin 3	398	Glu-rich.				negative regulation of cytokine-mediated signaling pathway (GO:0001960)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)	p.A398A(1)		endometrium(1)|kidney(2)|pancreas(1)|skin(1)	5						TGGATTCTTCCGCTTTTCTCT	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											335.0	255.0	279.0					19																	14165245		692	1591	2283	SO:0001819	synonymous_variant	342979				CCDS46001.1	19p13.12	2010-04-15			ENSG00000187867	ENSG00000187867			33274	protein-coding gene	gene with protein product							Standard	NM_001145028		Approved		uc010xnk.1	A6NDB9		ENST00000340790.4:c.1194G>A	19.37:g.14165245C>T				Silent	SNP	ENST00000340790.4	37	CCDS46001.1																																																																																				0.587	PALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458540.1		NM_001145028	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643533	52643533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr3:52643533G>T	ENST00000296302.7	-	16	2364	c.2363C>A	c.(2362-2364)tCa>tAa	p.S788*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S803*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S788*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S788*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S803*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S788*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S788*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.S756*			Q86U86	PB1_HUMAN	polybromo 1	788					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.S788*(2)|p.S756*(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)		ACTCATGACTGACACAAAAAG	0.458			"""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)											98.0	92.0	94.0					3																	52643533		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2363C>A	3.37:g.52643533G>T	ENSP00000296302:p.Ser788*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	41	8.540142	0.98854	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.4625	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	756;788;788;788;788;788;803;803;788;747	.	ENSP00000296302:S788X	S	-	2	0	PBRM1	52618573	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	TCA		0.458	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDHB1	29930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140432455	140432455	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr5:140432455C>T	ENST00000306549.3	+	1	1477	c.1400C>T	c.(1399-1401)cCt>cTt	p.P467L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	467	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P467L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAACAGTCCTGCGGTTTTT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											72.0	70.0	71.0					5																	140432455		2203	4300	6503	SO:0001583	missense	29930			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1400C>T	5.37:g.140432455C>T	ENSP00000307234:p.Pro467Leu		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288721	0.59976	.	.	ENSG00000171815	ENST00000306549	T	0.01685	4.69	6.17	6.17	0.99709	Cadherin (3);Cadherin-like (1);	0.000000	0.44483	D	0.000451	T	0.10680	0.0261	M	0.78223	2.4	0.50171	D	0.999853	D	0.56968	0.978	P	0.60012	0.867	T	0.00015	-1.2399	10	0.66056	D	0.02	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	467	Q9Y5F3	PCDB1_HUMAN	L	467	ENSP00000307234:P467L	ENSP00000307234:P467L	P	+	2	0	PCDHB1	140412639	0.001000	0.12720	1.000000	0.80357	0.888000	0.51559	1.439000	0.35013	2.941000	0.99782	0.655000	0.94253	CCT		0.413	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2		NM_013340	
PDGFRA	5156	broad.mit.edu;ucsc.edu	37	4	55155210	55155210	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr4:55155210C>G	ENST00000257290.5	+	21	3140	c.2809C>G	c.(2809-2811)Ccg>Gcg	p.P937A	FIP1L1_ENST00000507166.1_Missense_Mutation_p.P697A	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	937	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P937A(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAACAGTGAGCCGGAGAAGAG	0.537			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	1	Substitution - Missense(1)	kidney(1)											156.0	147.0	150.0					4																	55155210		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2809C>G	4.37:g.55155210C>G	ENSP00000257290:p.Pro937Ala		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273055	0.59649	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.92149	-2.98;-2.98	6.07	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.267675	0.19721	U	0.107595	D	0.89093	0.6617	M	0.62088	1.915	0.80722	D	1	P	0.43973	0.823	B	0.31686	0.134	D	0.89360	0.3667	10	0.59425	D	0.04	.	15.3573	0.74437	0.0:0.9329:0.0:0.0671	.	937	P16234	PGFRA_HUMAN	A	697;937	ENSP00000423325:P697A;ENSP00000257290:P937A	ENSP00000423325:P697A	P	+	1	0	FIP1L1;PDGFRA	54849967	1.000000	0.71417	0.994000	0.49952	0.856000	0.48823	6.094000	0.71431	1.594000	0.50039	-0.122000	0.15005	CCG		0.537	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		NM_006206	
HELZ2	85441	broad.mit.edu	37	20	62192230	62192230	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr20:62192230C>A	ENST00000467148.1	-	15	7268	c.7199G>T	c.(7198-7200)cGg>cTg	p.R2400L	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1831L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2400	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R2400L(1)									GTTTTGCAGCCGCTCATTCTT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											94.0	106.0	102.0					20																	62192230		2203	4300	6503	SO:0001583	missense	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7199G>T	20.37:g.62192230C>A	ENSP00000417401:p.Arg2400Leu		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.416029	0.01136	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.79454	-1.27;-1.18	4.15	1.65	0.23941	ATPase, AAA+ type, core (1);	1.122620	0.06511	N	0.738046	T	0.50531	0.1621	N	0.04063	-0.285	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.12837	0.002;0.008	T	0.41610	-0.9499	10	0.10902	T	0.67	-12.0129	1.5795	0.02631	0.2053:0.1052:0.1368:0.5527	.	2400;1831	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	L	1831;2400	ENSP00000393257:R1831L;ENSP00000417401:R2400L	ENSP00000393257:R1831L	R	-	2	0	RP4-697K14.7	61662674	0.000000	0.05858	0.705000	0.30386	0.012000	0.07955	-0.773000	0.04689	0.485000	0.27652	-0.339000	0.08088	CGG		0.612	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335	
PRKACB	5567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	84679863	84679863	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:84679863G>T	ENST00000370689.2	+	9	1057	c.793G>T	c.(793-795)Gat>Tat	p.D265Y	PRKACB_ENST00000370685.3_Missense_Mutation_p.D312Y|PRKACB_ENST00000370682.3_Missense_Mutation_p.D269Y|PRKACB_ENST00000394838.2_Missense_Mutation_p.D272Y|PRKACB_ENST00000394839.2_Missense_Mutation_p.D235Y	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)	p.D312Y(1)|p.D265Y(1)|p.D272Y(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		CTTCAGTTCAGATCTCAAGGA	0.388																																																	3	Substitution - Missense(3)	kidney(3)											91.0	83.0	85.0					1																	84679863		2203	4300	6503	SO:0001583	missense	5567			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.793G>T	1.37:g.84679863G>T	ENSP00000359723:p.Asp265Tyr		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	CCDS691.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368701	0.61624	.	.	ENSG00000142875	ENST00000370689;ENST00000370685;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000394839;ENST00000370681	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045241	0.85682	D	0.000000	T	0.80565	0.4647	M	0.80422	2.495	0.80722	D	1	D;P;P;P;P;P;P;D	0.89917	1.0;0.533;0.879;0.766;0.853;0.717;0.652;1.0	D;B;P;P;P;P;B;D	0.91635	0.999;0.353;0.609;0.765;0.474;0.648;0.353;0.999	T	0.81705	-0.0811	10	0.52906	T	0.07	-22.3081	18.8687	0.92303	0.0:0.0:1.0:0.0	.	265;253;272;235;271;269;312;265	B2RB89;P22694-3;B4DKB0;B1APG4;P22694-6;P22694-7;P22694-2;P22694	.;.;.;.;.;.;.;KAPCB_HUMAN	Y	265;312;272;269;271;235;227	ENSP00000359723:D265Y;ENSP00000359719:D312Y;ENSP00000378314:D272Y;ENSP00000359716:D269Y;ENSP00000378315:D235Y	ENSP00000359713:D271Y	D	+	1	0	PRKACB	84452451	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.751000	0.98889	2.453000	0.82957	0.557000	0.71058	GAT		0.388	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1		NM_182948	
PRTG	283659	hgsc.bcm.edu;ucsc.edu	37	15	55931919	55931919	+	Missense_Mutation	SNP	C	C	T	rs144541725	byFrequency	TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr15:55931919C>T	ENST00000389286.4	-	13	2292	c.2245G>A	c.(2245-2247)Gct>Act	p.A749T		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ATTTGTGCAGCGGTGAATGCA	0.507													C|||	2	0.000399361	0.0	0.0	5008	,	,		17811	0.001		0.001	False		,,,				2504	0.0																0													159.0	169.0	166.0					15																	55931919		2060	4196	6256	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2245G>A	15.37:g.55931919C>T	ENSP00000373937:p.Ala749Thr			Missense_Mutation	SNP	ENST00000389286.4	37	CCDS42040.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.864	0.343590	0.11126	.	.	ENSG00000166450	ENST00000389286	T	0.53423	0.62	5.81	2.09	0.27110	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.265606	0.37483	N	0.002064	T	0.14570	0.0352	N	0.01352	-0.895	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.03433	-1.1037	10	0.16896	T	0.51	-11.8868	3.6989	0.08375	0.3119:0.1876:0.0:0.5005	.	749	Q2VWP7	PRTG_HUMAN	T	749	ENSP00000373937:A749T	ENSP00000373937:A749T	A	-	1	0	PRTG	53719211	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	0.809000	0.27168	0.481000	0.27557	-0.238000	0.12139	GCT		0.507	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1		NM_173814	
RABGEF1	27342	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	66260561	66260561	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr7:66260561A>T	ENST00000284957.5	+	5	654	c.577A>T	c.(577-579)Atg>Ttg	p.M193L	KCTD7_ENST00000510829.2_Missense_Mutation_p.M193L|RABGEF1_ENST00000450873.2_Missense_Mutation_p.M193L|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.M206L|KCTD7_ENST00000380828.2_Missense_Mutation_p.M233L|KCTD7_ENST00000451741.2_Missense_Mutation_p.M193L|RABGEF1_ENST00000437078.2_Missense_Mutation_p.M207L			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	371	Interaction with ubiquitinated proteins.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)	p.M193L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						GGCCGAAAGGATGCAAACTCG	0.453																																																	1	Substitution - Missense(1)	kidney(1)											165.0	142.0	150.0					7																	66260561		2203	4300	6503	SO:0001583	missense	27342			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.577A>T	7.37:g.66260561A>T	ENSP00000284957:p.Met193Leu		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	3.831	-0.035696	0.07497	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92	6.14	2.53	0.30540	.	0.143315	0.64402	N	0.000005	T	0.04497	0.0123	N	0.00436	-1.5	0.30711	N	0.749237	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.20306	-1.0279	10	0.08599	T	0.76	-13.1662	1.4547	0.02383	0.3808:0.2212:0.0778:0.3202	.	207;27;371	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	L	238;233;193;193;193;193;206;207	ENSP00000370208:M233L;ENSP00000421124:M193L;ENSP00000398177:M193L;ENSP00000284957:M193L;ENSP00000415815:M193L;ENSP00000403429:M206L;ENSP00000390480:M207L	ENSP00000370207:M238L	M	+	1	0	RABGEF1;KCTD7	65897996	0.997000	0.39634	0.999000	0.59377	0.862000	0.49288	1.070000	0.30653	0.529000	0.28599	0.529000	0.55759	ATG		0.453	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3		NM_014504	
RANBP2	5903	broad.mit.edu	37	2	109383602	109383603	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr2:109383602_109383603GC>AT	ENST00000283195.6	+	20	6733_6734	c.6607_6608GC>AT	c.(6607-6609)GCg>ATg	p.A2203M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2203					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A2203T(2)|p.A2203V(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGGTACAGGTGCGGCCGGTGCC	0.401																																																	4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	Exception_encountered	2.37:g.109383602_109383603delinsAT	ENSP00000283195:p.Ala2203Met		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1																																																																																				0.401	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267	
RANBP2	5903	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109381095	109381095	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr2:109381095C>T	ENST00000283195.6	+	20	4226	c.4100C>T	c.(4099-4101)tCa>tTa	p.S1367L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1367					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S1367L(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAGAATGCTTCAACTGCTAAG	0.393																																																	2	Substitution - Missense(2)	kidney(2)											89.0	89.0	89.0					2																	109381095		2203	4300	6503	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4100C>T	2.37:g.109381095C>T	ENSP00000283195:p.Ser1367Leu		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606460	0.46527	.	.	ENSG00000153201	ENST00000283195	T	0.56444	0.46	5.48	5.48	0.80851	Zinc finger, RanBP2-type (4);	.	.	.	.	T	0.38480	0.1042	N	0.14661	0.345	0.23331	N	0.997897	B	0.15141	0.012	B	0.18561	0.022	T	0.24368	-1.0162	9	0.44086	T	0.13	-17.6754	13.6215	0.62140	0.0:0.926:0.0:0.074	.	1367	P49792	RBP2_HUMAN	L	1367	ENSP00000283195:S1367L	ENSP00000283195:S1367L	S	+	2	0	RANBP2	108747527	0.036000	0.19791	0.999000	0.59377	0.969000	0.65631	1.913000	0.39956	2.554000	0.86153	0.655000	0.94253	TCA		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267	
RANBP2	5903	broad.mit.edu	37	2	109383605	109383605	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr2:109383605G>A	ENST00000283195.6	+	20	6736	c.6610G>A	c.(6610-6612)Gcc>Acc	p.A2204T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2204					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A2204T(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TACAGGTGCGGCCGGTGCCTC	0.398																																																	2	Substitution - Missense(2)	kidney(2)											22.0	26.0	25.0					2																	109383605		2090	4220	6310	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6610G>A	2.37:g.109383605G>A	ENSP00000283195:p.Ala2204Thr		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.147204	0.00029	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.26660	1.72	4.9	1.05	0.20165	.	.	.	.	.	T	0.08313	0.0207	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36504	-0.9745	9	0.09843	T	0.71	0.7876	1.8078	0.03084	0.2377:0.1385:0.481:0.1427	.	2204	P49792	RBP2_HUMAN	T	1228;2204	ENSP00000283195:A2204T	ENSP00000283195:A2204T	A	+	1	0	RANBP2	108750037	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.243000	0.18106	0.006000	0.14734	-0.252000	0.11476	GCC		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267	
RECK	8434	hgsc.bcm.edu;ucsc.edu	37	9	36091316	36091317	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr9:36091316_36091317insT	ENST00000377966.3	+	10	1627_1628	c.1061_1062insT	c.(1060-1065)acttacfs	p.Y355fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	355					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AGAAACCTTACTTACTGTACTA	0.342																																																	0																																										SO:0001589	frameshift_variant	8434			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1063dupT	9.37:g.36091318_36091318dupT	ENSP00000367202:p.Tyr355fs		B2RNS1|Q5W0K6|Q8WX37	Frame_Shift_Ins	INS	ENST00000377966.3	37	CCDS6597.1																																																																																				0.342	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			
SAMD4A	23034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55203899	55203899	+	Silent	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr14:55203899G>A	ENST00000554335.1	+	4	1536	c.873G>A	c.(871-873)ctG>ctA	p.L291L	SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000392067.3_Silent_p.L291L|SAMD4A_ENST00000357634.3_Silent_p.L290L			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	291					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.L290L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ATGCCCCCCTGTCTCCACAAA	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											194.0	180.0	184.0					14																	55203899		2203	4300	6503	SO:0001819	synonymous_variant	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.873G>A	14.37:g.55203899G>A			A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	CCDS32084.2																																																																																				0.522	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1		NM_015589	
SLC22A7	10864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43272449	43272449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr6:43272449C>T	ENST00000372585.5	+	11	1728	c.1633C>T	c.(1633-1635)Cag>Tag	p.Q545*	SLC22A7_ENST00000372589.3_Nonsense_Mutation_p.Q543*|ZNF318_ENST00000607252.1_5'Flank	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	545					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.Q545*(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCCCATGAAGCAGGTCCAGAA	0.607																																																	1	Substitution - Nonsense(1)	kidney(1)											98.0	80.0	86.0					6																	43272449		2203	4300	6503	SO:0001587	stop_gained	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1633C>T	6.37:g.43272449C>T	ENSP00000361666:p.Gln545*		B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Nonsense_Mutation	SNP	ENST00000372585.5	37	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	34	5.349305	0.95830	.	.	ENSG00000137204	ENST00000372589;ENST00000372585	.	.	.	4.9	2.96	0.34315	.	1.463580	0.04774	U	0.428514	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	7.6304	0.28236	0.0:0.7376:0.1656:0.0969	.	.	.	.	X	543;545	.	ENSP00000361666:Q545X	Q	+	1	0	SLC22A7	43380427	0.907000	0.30839	0.996000	0.52242	0.992000	0.81027	0.500000	0.22562	1.147000	0.42369	0.561000	0.74099	CAG		0.607	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			
SLC22A9	114571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63175623	63175623	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr11:63175623T>A	ENST00000279178.3	+	8	1577	c.1328T>A	c.(1327-1329)tTa>tAa	p.L443*	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	443					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L443*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ACACTGGGCTTAGGAGCGTCT	0.483																																																	1	Substitution - Nonsense(1)	kidney(1)											107.0	99.0	102.0					11																	63175623		2201	4298	6499	SO:0001587	stop_gained	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1328T>A	11.37:g.63175623T>A	ENSP00000279178:p.Leu443*		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Nonsense_Mutation	SNP	ENST00000279178.3	37	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868843	0.72065	.	.	ENSG00000149742	ENST00000279178	.	.	.	1.65	-0.796	0.10912	.	0.733227	0.12775	N	0.440190	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	4.2353	0.10623	0.0:0.4162:0.0:0.5838	.	.	.	.	X	443	.	ENSP00000279178:L443X	L	+	2	0	SLC22A9	62932199	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-0.527000	0.06200	-0.238000	0.09724	0.172000	0.16884	TTA		0.483	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1		NM_080866	
SLC24A3	57419	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	19665938	19665938	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr20:19665938G>C	ENST00000328041.6	+	12	1454	c.1257G>C	c.(1255-1257)gaG>gaC	p.E419D		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	419					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.E419D(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						aggacaatgagaatgatgagg	0.552																																																	1	Substitution - Missense(1)	kidney(1)											143.0	126.0	132.0					20																	19665938		2203	4300	6503	SO:0001583	missense	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1257G>C	20.37:g.19665938G>C	ENSP00000333519:p.Glu419Asp		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	9.052	0.992330	0.18966	.	.	ENSG00000185052	ENST00000328041	T	0.62788	-0.0	5.67	2.69	0.31865	.	0.276233	0.44688	N	0.000434	T	0.51941	0.1704	L	0.54323	1.7	0.46376	D	0.999018	B	0.06786	0.001	B	0.10450	0.005	T	0.38001	-0.9681	9	.	.	.	.	8.2663	0.31815	0.3114:0.0:0.6886:0.0	.	419	Q9HC58	NCKX3_HUMAN	D	419	ENSP00000333519:E419D	.	E	+	3	2	SLC24A3	19613938	1.000000	0.71417	0.967000	0.41034	0.776000	0.43924	1.029000	0.30140	0.337000	0.23665	0.563000	0.77884	GAG		0.552	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4		NM_020689	
SLC25A14	9016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129483276	129483276	+	Silent	SNP	G	G	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chrX:129483276G>T	ENST00000218197.5	+	4	596	c.369G>T	c.(367-369)ggG>ggT	p.G123G	SLC25A14_ENST00000361980.5_Silent_p.G120G|SLC25A14_ENST00000543953.1_Silent_p.G88G|SLC25A14_ENST00000339231.3_Silent_p.G120G|SLC25A14_ENST00000545805.1_Silent_p.G123G|SLC25A14_ENST00000467496.1_3'UTR	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	123					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.G123G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TTAAAATTGGGATTTACCAAA	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											117.0	94.0	102.0					X																	129483276		2203	4300	6503	SO:0001819	synonymous_variant	9016			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.369G>T	X.37:g.129483276G>T			D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Silent	SNP	ENST00000218197.5	37	CCDS14623.1																																																																																				0.348	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1		NM_022810, NM_003951	
SLC35A3	23443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100472612	100472612	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr1:100472612T>C	ENST00000370155.3	+	4	757	c.365T>C	c.(364-366)cTt>cCt	p.L122P	SLC35A3_ENST00000427993.2_Missense_Mutation_p.L122P|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000465289.1_Missense_Mutation_p.L122P|SLC35A3_ENST00000370153.1_Missense_Mutation_p.L164P	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	122					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)	p.L122P(1)		biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTAAAAATTCTTACAACAGCA	0.313																																					Ovarian(7;298 356 944 2149 6911)												1	Substitution - Missense(1)	kidney(1)											71.0	71.0	71.0					1																	100472612		2203	4297	6500	SO:0001583	missense	23443			AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.365T>C	1.37:g.100472612T>C	ENSP00000359174:p.Leu122Pro		A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	ENST00000370155.3	37	CCDS762.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263285	0.80358	.	.	ENSG00000117620	ENST00000370155;ENST00000465289;ENST00000427993;ENST00000370153;ENST00000422078	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.31	5.31	0.75309	.	0.062544	0.64402	D	0.000003	T	0.81356	0.4805	M	0.79926	2.475	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.92	D;D;P	0.83275	0.996;0.995;0.678	D	0.83729	0.0197	10	0.54805	T	0.06	-9.4969	15.2546	0.73576	0.0:0.0:0.0:1.0	.	122;163;122	Q9BSB7;Q9Y2D2-2;Q9Y2D2	.;.;S35A3_HUMAN	P	122;122;122;164;122	ENSP00000359174:L122P;ENSP00000418527:L122P;ENSP00000414947:L122P;ENSP00000359172:L164P;ENSP00000401679:L122P	ENSP00000359172:L164P	L	+	2	0	SLC35A3	100245200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.018000	0.59344	0.460000	0.39030	CTT		0.313	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1		NM_012243	
SLC4A8	9498	broad.mit.edu;ucsc.edu	37	12	51897852	51897852	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr12:51897852C>A	ENST00000453097.2	+	23	3338	c.3121C>A	c.(3121-3123)Ccc>Acc	p.P1041T		NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.P1041T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGACAAGTTTCCCTTAGAGAG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											56.0	52.0	54.0					12																	51897852		1838	4082	5920	SO:0001583	missense	9498			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.3121C>A	12.37:g.51897852C>A	ENSP00000405812:p.Pro1041Thr			Missense_Mutation	SNP	ENST00000453097.2	37	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610545	0.46527	.	.	ENSG00000050438	ENST00000453097	T	0.76709	-1.04	5.52	3.65	0.41850	.	.	.	.	.	T	0.74038	0.3664	M	0.69823	2.125	0.80722	D	1	B	0.20164	0.042	B	0.18561	0.022	T	0.70788	-0.4777	9	0.72032	D	0.01	.	8.1378	0.31064	0.0:0.8073:0.0:0.1927	.	1041	Q2Y0W8	S4A8_HUMAN	T	1041	ENSP00000405812:P1041T	ENSP00000405812:P1041T	P	+	1	0	SLC4A8	50184119	0.996000	0.38824	0.998000	0.56505	0.994000	0.84299	1.690000	0.37711	0.763000	0.33175	0.655000	0.94253	CCC		0.398	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1		NM_004858	
SLC9A3	6550	broad.mit.edu;ucsc.edu	37	5	475720	475720	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr5:475720A>T	ENST00000264938.3	-	15	2216	c.2207T>A	c.(2206-2208)tTc>tAc	p.F736Y	CTD-2228K2.5_ENST00000510604.1_5'Flank|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.5_ENST00000510714.1_5'Flank|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.5_ENST00000342584.3_5'Flank|SLC9A3_ENST00000514375.1_Missense_Mutation_p.F727Y|CTD-2228K2.7_ENST00000606319.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	736					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.F736Y(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACTAGCCAGGAACTCGATCCC	0.637																																																	1	Substitution - Missense(1)	kidney(1)											45.0	38.0	40.0					5																	475720		2158	4211	6369	SO:0001583	missense	6550				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2207T>A	5.37:g.475720A>T	ENSP00000264938:p.Phe736Tyr		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.652537	0.29336	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.74106	-0.81;-0.81	4.64	4.64	0.57946	.	0.428594	0.25439	N	0.030677	T	0.69726	0.3143	L	0.56769	1.78	0.26509	N	0.974637	B;B	0.17465	0.007;0.022	B;B	0.15052	0.012;0.011	T	0.62358	-0.6871	10	0.41790	T	0.15	.	12.5759	0.56363	1.0:0.0:0.0:0.0	.	727;736	E9PF67;P48764	.;SL9A3_HUMAN	Y	736;727	ENSP00000264938:F736Y;ENSP00000422983:F727Y	ENSP00000264938:F736Y	F	-	2	0	SLC9A3	528720	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	1.962000	0.40442	1.858000	0.53909	0.379000	0.24179	TTC		0.637	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2		NM_004174	
STAG2	10735	hgsc.bcm.edu;ucsc.edu	37	X	123195628	123195629	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	AG	AG	AG	-	AG	AG	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chrX:123195628_123195629delAG	ENST00000371160.1	+	17	1832_1833	c.1542_1543delAG	c.(1540-1545)acagatfs	p.D515fs	STAG2_ENST00000371157.3_Frame_Shift_Del_p.D515fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Frame_Shift_Del_p.D515fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.D446fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.D515fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.D515fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	515					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						tAGCACTAACAGATAGGCAAGA	0.356																																																	0																																										SO:0001589	frameshift_variant	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1542_1543delAG	X.37:g.123195628_123195629delAG	ENSP00000360202:p.Asp515fs		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	CCDS14607.1																																																																																				0.356	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603	
SUN1	23353	broad.mit.edu;ucsc.edu	37	7	905604	905604	+	Missense_Mutation	SNP	G	G	T	rs373401176		TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr7:905604G>T	ENST00000405266.1	+	17	2015	c.1991G>T	c.(1990-1992)aGt>aTt	p.S664I	SUN1_ENST00000456758.2_Missense_Mutation_p.S816I|SUN1_ENST00000452783.2_Missense_Mutation_p.S524I|SUN1_ENST00000389574.3_Missense_Mutation_p.S544I|SUN1_ENST00000413514.2_Missense_Mutation_p.S425I|SUN1_ENST00000425407.2_Missense_Mutation_p.S544I|SUN1_ENST00000401592.1_Missense_Mutation_p.S627I			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	654	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.S544I(1)|p.S627I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGCATCTTGAGTACTCGCTGT	0.488																																																	2	Substitution - Missense(2)	kidney(2)											101.0	103.0	103.0					7																	905604		2022	4186	6208	SO:0001583	missense	23353			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1991G>T	7.37:g.905604G>T	ENSP00000384116:p.Ser664Ile		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.541533|4.541533	0.85917|0.85917	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	.|T;T;T;T;T;T;T;T	.|0.34472	.|1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	4.94|4.94	4.94|4.94	0.65067|0.65067	.|Sad1/UNC-like, C-terminal (1);	.|0.212725	.|0.64402	.|D	.|0.000012	T|T	0.68421|0.68421	0.2999|0.2999	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.998;0.994;1.0;0.999;0.999;1.0	.|D;P;D;D;D;D	.|0.83275	.|0.945;0.906;0.996;0.97;0.993;0.99	T|T	0.77016|0.77016	-0.2744|-0.2744	5|10	.|0.87932	.|D	.|0	-29.0305|-29.0305	18.1718|18.1718	0.89747|0.89747	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|425;524;627;816;654;544	.|E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.|.;.;.;.;SUN1_HUMAN;.	D|I	475|816;544;524;664;627;654;544;552;425	.|ENSP00000388743:S816I;ENSP00000374225:S544I;ENSP00000413439:S524I;ENSP00000384116:S664I;ENSP00000384015:S627I;ENSP00000392309:S544I;ENSP00000409909:S552I;ENSP00000389313:S425I	.|ENSP00000297445:S654I	E|S	+|+	3|2	2|0	SUN1|SUN1	872130|872130	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.906000|0.906000	0.53458|0.53458	9.475000|9.475000	0.97721|0.97721	2.293000|2.293000	0.77203|0.77203	0.655000|0.655000	0.94253|0.94253	GAG|AGT		0.488	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1		NM_025154	
TMEM229A	730130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123672748	123672748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr7:123672748delG	ENST00000455783.1	-	1	775	c.310delC	c.(310-312)ctgfs	p.L104fs	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	104						host cell nucleus (GO:0042025)|integral component of membrane (GO:0016021)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)	6						ACCTTCTCCAGGGCGAAATGG	0.677																																																	0													73.0	85.0	81.0					7																	123672748		692	1591	2283	SO:0001589	frameshift_variant	730130			BC157828	CCDS47694.1	7q31.32	2009-09-22			ENSG00000234224	ENSG00000234224			37279	protein-coding gene	gene with protein product							Standard	NM_001136002		Approved		uc011kob.2	B2RXF0	OTTHUMG00000154762	ENST00000455783.1:c.310delC	7.37:g.123672748delG	ENSP00000395244:p.Leu104fs		A4D0X6	Frame_Shift_Del	DEL	ENST00000455783.1	37	CCDS47694.1																																																																																				0.677	TMEM229A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336960.3		NM_001136002	
TMEM25	84866	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118404209	118404209	+	Missense_Mutation	SNP	G	G	T	rs201359918		TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr11:118404209G>T	ENST00000313236.5	+	5	801	c.748G>T	c.(748-750)Gtg>Ttg	p.V250L	RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000354064.7_Intron|RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000544878.1_Missense_Mutation_p.V153L|TMEM25_ENST00000533102.1_Missense_Mutation_p.V250L|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000354284.4_Missense_Mutation_p.V250L|RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000411589.2_Intron|TMEM25_ENST00000442938.2_Intron|TMEM25_ENST00000524725.1_Intron|TMEM25_ENST00000359862.4_Intron	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	250						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V250L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GGGCACCCTCGTGGGGTTCAG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											64.0	65.0	65.0					11																	118404209		2200	4295	6495	SO:0001583	missense	84866			AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.748G>T	11.37:g.118404209G>T	ENSP00000315635:p.Val250Leu		A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	ENST00000313236.5	37	CCDS8398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.29|12.29	1.894285|1.894285	0.33442|0.33442	.|.	.|.	ENSG00000149582|ENSG00000149582	ENST00000526853|ENST00000528373;ENST00000544878;ENST00000354284;ENST00000533102;ENST00000313236	.|T;T;T;T;T	.|0.29142	.|1.58;1.78;2.52;2.43;2.55	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.138090	.|0.49916	.|D	.|0.000121	T|T	0.13543|0.13543	0.0328|0.0328	N|N	0.04880|0.04880	-0.145|-0.145	0.35688|0.35688	D|D	0.814654|0.814654	.|B;B;B;B;B	.|0.27594	.|0.118;0.01;0.026;0.044;0.182	.|B;B;B;B;B	.|0.19148	.|0.024;0.007;0.011;0.024;0.019	T|T	0.13229|0.13229	-1.0517|-1.0517	5|10	.|0.06099	.|T	.|0.92	-13.3667|-13.3667	14.3478|14.3478	0.66678|0.66678	0.0:0.1482:0.8518:0.0|0.0:0.1482:0.8518:0.0	.|.	.|153;250;250;250;250	.|F5H294;Q86YD3;B7Z4E4;Q86YD3-4;E9PKP3	.|.;TMM25_HUMAN;.;.;.	L|L	84|153;153;250;250;250	.|ENSP00000432040:V153L;ENSP00000439408:V153L;ENSP00000346237:V250L;ENSP00000431548:V250L;ENSP00000315635:V250L	.|ENSP00000315635:V250L	R|V	+|+	2|1	0|0	TMEM25|TMEM25	117909419|117909419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.075000|4.075000	0.57584|0.57584	2.769000|2.769000	0.95229|0.95229	0.563000|0.563000	0.77884|0.77884	CGT|GTG		0.607	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1		NM_032780	
TNFAIP3	7128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	138201233	138201233	+	Silent	SNP	C	C	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr6:138201233C>T	ENST00000237289.4	+	8	1998	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	644	Interaction with TNIP1. {ECO:0000250}.|Required for proteosomal degradation of UBE2N and UBE2D3, TRAF6 deubiquitination, and TAX1BP1 interaction with UBE2N. {ECO:0000250}.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.V644V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CAGGGAAAGTCAGTCCCACAG	0.517			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	26	Whole gene deletion(25)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(25)|kidney(1)											87.0	73.0	78.0					6																	138201233		2203	4300	6503	SO:0001819	synonymous_variant	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1932C>T	6.37:g.138201233C>T			B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822675	0.16678	.	.	ENSG00000118503	ENST00000544646	.	.	.	6.08	0.983	0.19767	.	.	.	.	.	.	.	.	.	.	.	0.21147	N	0.999774	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.5794	1.8132	0.03095	0.1342:0.4039:0.1318:0.33	.	.	.	.	X	644	.	ENSP00000442207:Q644X	Q	+	1	0	TNFAIP3	138242926	.	.	0.594000	0.28785	0.845000	0.48019	.	.	0.234000	0.21139	0.655000	0.94253	CAG		0.517	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			
VHL	7428	hgsc.bcm.edu	37	3	10183781	10183782	+	Frame_Shift_Ins	INS	-	-	T	rs5030827		TCGA-CZ-5466-01A-01W-1528-10	TCGA-CZ-5466-11A-01W-1529-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	fa54a534-2a32-474c-8f7b-e38400f0e17b	8f2f6551-1769-408d-8c13-50f6d6ff45d5	g.chr3:10183781_10183782insT	ENST00000256474.2	+	1	1090_1091	c.250_251insT	c.(250-252)gtgfs	p.V84fs	VHL_ENST00000345392.2_Frame_Shift_Ins_p.V84fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	84			Missing (in VHLD).|V -> L (in VHLD; type II and type 2C; dbSNP:rs5030827). {ECO:0000269|PubMed:16502427, ECO:0000269|PubMed:8592333}.		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.V84L(2)|p.S72_V87>L(1)|p.V83fs*46(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.V83_L85del(1)|p.V84_E94>E(1)|p.V84fs*47(1)|p.V84fs*69(1)|p.V84fs*74(1)|p.V84fs*72(1)|p.V84fs*73(1)|p.V84_P86del(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)		TCCGCGCGTCGTGCTGCCCGTA	0.718		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"""	14	Deletion - Frameshift(8)|Substitution - Missense(2)|Complex - deletion inframe(2)|Deletion - In frame(2)	kidney(12)|adrenal_gland(1)|soft_tissue(1)	GRCh37	CM077652|CM983401	VHL	M	rs5030827																																			SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.251dupT	3.37:g.10183782_10183782dupT	ENSP00000256474:p.Val84fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.718	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
YWHAB	7529	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	43533772	43533772	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr20:43533772G>A	ENST00000372839.3	+	5	862	c.588G>A	c.(586-588)acG>acA	p.T196T	YWHAB_ENST00000353703.4_Splice_Site_p.T196T|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	196					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.T196T(1)		breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TGGCAAAAACGGTGAGAAAGA	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											49.0	50.0	50.0					20																	43533772		2203	4300	6503	SO:0001630	splice_region_variant	7529			X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.588+1G>A	20.37:g.43533772G>A			A8K9K2|E1P616	Silent	SNP	ENST00000372839.3	37	CCDS13339.1																																																																																				0.383	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3		NM_003404	Silent
ZBTB44	29068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	130131008	130131008	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr11:130131008A>T	ENST00000357899.4	-	2	1033	c.761T>A	c.(760-762)tTa>tAa	p.L254*	ZBTB44_ENST00000397753.1_Nonsense_Mutation_p.L254*|ZBTB44_ENST00000530205.1_Nonsense_Mutation_p.L254*|ZBTB44_ENST00000525842.1_Nonsense_Mutation_p.L254*			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L254*(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		AGGTAATTCTAAAGTCCGGGT	0.433																																																	1	Substitution - Nonsense(1)	kidney(1)											76.0	73.0	74.0					11																	130131008		1853	4085	5938	SO:0001587	stop_gained	29068			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.761T>A	11.37:g.130131008A>T	ENSP00000350574:p.Leu254*		Q6IPT8|Q86VJ7|Q86XX5	Nonsense_Mutation	SNP	ENST00000357899.4	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	32|32|32	5.132879|5.132879|5.132879	0.94517|0.94517|0.94517	.|.|.	.|.|.	ENSG00000196323|ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205;ENST00000338191|ENST00000529982	.|.|.	.|.|.	.|.|.	5.58|5.58|5.58	4.45|4.45|4.45	0.53987|0.53987|0.53987	.|.|.	.|0.245282|.	.|0.35495|.	.|N|.	.|0.003165|.	T|.|.	0.56093|.|.	0.1962|.|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|.	0.64605|.|.	-0.6368|.|.	3|.|.	.|0.02654|.	.|T|.	.|1|.	.|.|.	11.292|11.292|11.292	0.49256|0.49256|0.49256	0.9286:0.0:0.0714:0.0|0.9286:0.0:0.0714:0.0|0.9286:0.0:0.0714:0.0	.|.|.	.|.|.	.|.|.	.|.|.	L|X|K	250|254;254;254;254;254;166|108	.|.|.	.|ENSP00000341618:L166X|.	F|L|X	-|-|-	3|2|1	2|0|0	ZBTB44|ZBTB44|ZBTB44	129636218|129636218|129636218	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	6.620000|6.620000|6.620000	0.74224|0.74224|0.74224	0.949000|0.949000|0.949000	0.37715|0.37715|0.37715	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	TTT|TTA|TAG		0.433	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1		NM_014155	
ZNF426	79088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9643586	9643586	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr19:9643586T>G	ENST00000535489.1	-	4	596	c.260A>C	c.(259-261)aAa>aCa	p.K87T	ZNF426_ENST00000253115.2_Missense_Mutation_p.K87T|ZNF426_ENST00000593003.1_Missense_Mutation_p.K49T|ZNF426_ENST00000589289.1_Missense_Mutation_p.K87T			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	87	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K87T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TAGACTGGGTTTGATGATCTG	0.413																																																	1	Substitution - Missense(1)	kidney(1)											132.0	115.0	120.0					19																	9643586		2203	4300	6503	SO:0001583	missense	79088			AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.260A>C	19.37:g.9643586T>G	ENSP00000439017:p.Lys87Thr		B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486793	0.44249	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.00922	5.54;5.54	1.9	-0.653	0.11447	Krueppel-associated box (3);	.	.	.	.	T	0.01421	0.0046	M	0.84585	2.705	0.09310	N	1	B;B	0.31893	0.345;0.345	B;B	0.20955	0.032;0.032	T	0.38023	-0.9680	9	0.52906	T	0.07	.	2.6258	0.04929	0.0:0.1814:0.2774:0.5412	.	74;87	Q59EH4;Q9BUY5	.;ZN426_HUMAN	T	74;87;87	ENSP00000253115:K87T;ENSP00000439017:K87T	ENSP00000253115:K87T	K	-	2	0	ZNF426	9504586	0.079000	0.21365	0.002000	0.10522	0.930000	0.56654	0.277000	0.18734	-0.244000	0.09639	0.260000	0.18958	AAA		0.413	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1		NM_024106	
ZNF112	7771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44840845	44840845	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr19:44840845T>G	ENST00000337401.4	-	4	257	c.169A>C	c.(169-171)Ata>Cta	p.I57L	ZNF112_ENST00000354340.4_Missense_Mutation_p.I51L|ZNF112_ENST00000536500.1_Missense_Mutation_p.I74L|CTC-512J12.6_ENST00000588212.1_Missense_Mutation_p.I56L	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I57L(1)|p.I51L(1)									AGCTGGGATATTAGGTCTGGC	0.438																																																	2	Substitution - Missense(2)	kidney(2)											139.0	127.0	131.0					19																	44840845		2203	4300	6503	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.169A>C	19.37:g.44840845T>G	ENSP00000337081:p.Ile57Leu		A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070159	0.76301	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.00832	5.64;5.64;5.64	4.37	3.27	0.37495	Krueppel-associated box (3);	0.000000	0.35291	N	0.003311	T	0.00695	0.0023	N	0.20304	0.555	0.30960	N	0.723784	B;P;B	0.35507	0.372;0.506;0.372	B;B;B	0.28553	0.042;0.091;0.042	T	0.44982	-0.9292	10	0.48119	T	0.1	-13.8091	7.4765	0.27378	0.0:0.0:0.2205:0.7795	.	56;74;57	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	L	57;57;51;74;56	ENSP00000337081:I57L;ENSP00000346305:I51L;ENSP00000441990:I74L	ENSP00000253426:I56L	I	-	1	0	ZNF285	49532685	0.986000	0.35501	1.000000	0.80357	0.948000	0.59901	2.095000	0.41729	1.965000	0.57142	0.379000	0.24179	ATA		0.438	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1		NM_013380	
ZNF609	23060	broad.mit.edu;ucsc.edu	37	15	64967175	64967175	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr15:64967175C>G	ENST00000326648.3	+	4	2250	c.2122C>G	c.(2122-2124)Ccc>Gcc	p.P708A		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	708						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P708A(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGCCCAAGCCCACTGTTAT	0.517																																																	1	Substitution - Missense(1)	kidney(1)											150.0	147.0	148.0					15																	64967175		2203	4299	6502	SO:0001583	missense	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2122C>G	15.37:g.64967175C>G	ENSP00000316527:p.Pro708Ala		Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737930	0.30774	.	.	ENSG00000180357	ENST00000326648	T	0.50001	0.76	5.79	5.79	0.91817	.	0.102423	0.64402	D	0.000002	T	0.46521	0.1397	L	0.42686	1.345	0.80722	D	1	B	0.26602	0.154	B	0.27262	0.078	T	0.35126	-0.9801	10	0.51188	T	0.08	-16.9106	20.0349	0.97554	0.0:1.0:0.0:0.0	.	708	O15014	ZN609_HUMAN	A	708	ENSP00000316527:P708A	ENSP00000316527:P708A	P	+	1	0	ZNF609	62754228	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.946000	0.63576	2.735000	0.93741	0.591000	0.81541	CCC		0.517	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1		XM_042833	
ZUFSP	221302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	116981933	116981933	+	Silent	SNP	A	A	C			TCGA-CZ-5466-01A-01D-1501-10	TCGA-CZ-5466-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a486ba5e-9159-4b88-9c08-1db2d861ae5a	fd4d5274-674a-4cc7-acc9-355d73b1382f	g.chr6:116981933A>C	ENST00000368576.3	-	3	879	c.636T>G	c.(634-636)gtT>gtG	p.V212V	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Silent_p.V212V	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	212							metal ion binding (GO:0046872)	p.V212V(1)		NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AATGCAAGTCAACATGTTCCT	0.313																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	71.0	74.0					6																	116981933		2203	4300	6503	SO:0001819	synonymous_variant	221302			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.636T>G	6.37:g.116981933A>C			Q5TD92|Q6PJH7|Q96NV6	Silent	SNP	ENST00000368576.3	37	CCDS5110.1																																																																																				0.313	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1		NM_145062	
