#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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_refseq_mrna_id	i_secondary_variant_classification	i_type
MACF1	23499	broad.mit.edu	37	1	39799405	39799405	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr1:39799405G>A	ENST00000372915.3	+	36	7247	c.7160G>A	c.(7159-7161)tGc>tAc	p.C2387Y	MACF1_ENST00000567887.1_Missense_Mutation_p.C2419Y|MACF1_ENST00000564288.1_Missense_Mutation_p.C2382Y|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.C822Y|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2387					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.C822Y(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGACACTGTGCTCTGTAAAG	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											78.0	76.0	77.0					1																	39799405		2203	4300	6503	39571992	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7160G>A	1.37:g.39799405G>A	ENSP00000362006:p.Cys2387Tyr		39571992	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		SNP	46	Broad	.	.	.	.	.	.	.	.	.	.	G	0.246	-1.009926	0.02095	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.72835	-0.69;-0.69	5.6	3.73	0.42828	.	0.486110	0.21082	N	0.080468	T	0.52370	0.1730	N	0.21448	0.665	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52147	-0.8614	10	0.62326	D	0.03	.	5.3304	0.15930	0.2601:0.1518:0.5881:0.0	.	2387	Q9UPN3	MACF1_HUMAN	Y	2387;822	ENSP00000362006:C2387Y;ENSP00000289893:C822Y	ENSP00000289893:C822Y	C	+	2	0	MACF1	39571992	1.000000	0.71417	0.990000	0.47175	0.278000	0.26855	1.708000	0.37899	1.367000	0.46095	-0.137000	0.14449	TGC		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		Missense_Mutation
PODN	127435	broad.mit.edu	37	1	53542969	53542969	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr1:53542969G>A	ENST00000312553.5	+	6	840	c.833G>A	c.(832-834)cGc>cAc	p.R278H	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron|PODN_ENST00000371500.3_Missense_Mutation_p.R259H	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	230					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)	p.R278L(1)|p.R278H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACTTCCTGCGCCACGTGCCC	0.637																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	1											104.0	104.0	104.0					1																	53542969		2203	4300	6503	53315557	SO:0001583	missense	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.833G>A	1.37:g.53542969G>A	ENSP00000308315:p.Arg278His		53315557	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948596	0.73787	.	.	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.18657	3.59;2.2	4.85	3.85	0.44370	.	0.210009	0.40640	N	0.001058	T	0.30510	0.0767	L	0.54323	1.7	0.80722	D	1	D;D	0.69078	0.997;0.993	P;P	0.62184	0.899;0.852	T	0.04440	-1.0951	10	0.46703	T	0.11	.	3.8959	0.09139	0.3179:0.0:0.6821:0.0	.	259;278	Q7Z5L7-2;Q7Z5L7-3	.;.	H	259;278	ENSP00000360555:R259H;ENSP00000308315:R278H	ENSP00000308315:R278H	R	+	2	0	PODN	53315557	0.997000	0.39634	1.000000	0.80357	0.974000	0.67602	2.854000	0.48325	2.505000	0.84491	0.655000	0.94253	CGC		0.637	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		Missense_Mutation
BEND7	222389	broad.mit.edu	37	10	13541893	13541893	+	Silent	SNP	C	C	T	rs149156418		TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr10:13541893C>T	ENST00000396900.2	-	3	332	c.333G>A	c.(331-333)ccG>ccA	p.P111P	BEND7_ENST00000396898.2_Silent_p.P111P|BEND7_ENST00000341083.3_Silent_p.P59P|BEND7_ENST00000378605.3_Silent_p.P59P			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	111						extracellular vesicular exosome (GO:0070062)		p.P59P(3)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CACGTGAAGACGGGTGGAGGC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16375	0.0		0.0	False		,,,				2504	0.0															3	Substitution - coding silent(3)	prostate(2)|ovary(1)	10						C	,	1,4405	2.1+/-5.4	0,1,2202	76.0	79.0	78.0		177,177	-5.4	0.0	10	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	BEND7	NM_001100912.1,NM_152751.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	59/375,59/469	13541893	2,13004	2203	4300	6503	13581899	SO:0001819	synonymous_variant	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.333G>A	10.37:g.13541893C>T			13581899	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37		SNP	19	Broad																																																																																				0.562	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		Silent
RET	5979	broad.mit.edu	37	10	43609955	43609955	+	Missense_Mutation	SNP	C	C	T	rs121913310		TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr10:43609955C>T	ENST00000355710.3	+	11	2139	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	RET_ENST00000340058.5_Missense_Mutation_p.T636M	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	636			T -> TCRT (in MEN2A). {ECO:0000269|PubMed:9452064}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D631_I638>A(1)|p.T636M(1)|p.E632_A640>VRP(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGTGCCGCACGGTGATCGCA	0.622		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	3	Complex - deletion inframe(2)|Substitution - Missense(1)	thyroid(2)|ovary(1)	10											140.0	86.0	104.0					10																	43609955		2203	4300	6503	42929961	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1907C>T	10.37:g.43609955C>T	ENSP00000347942:p.Thr636Met		42929961	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583997	0.46110	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98512	-1.22;-4.97;-1.34	4.52	3.53	0.40419	.	0.093199	0.64402	D	0.000001	D	0.95592	0.8567	L	0.38531	1.155	0.58432	D	0.999999	B;B;P	0.41080	0.43;0.369;0.737	B;B;B	0.40477	0.081;0.075;0.33	D	0.94496	0.7705	10	0.31617	T	0.26	.	13.0907	0.59166	0.0:0.9094:0.0:0.0906	.	382;636;636	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	M	636;153;636	ENSP00000347942:T636M;ENSP00000419080:T153M;ENSP00000344798:T636M	ENSP00000344798:T636M	T	+	2	0	RET	42929961	0.994000	0.37717	0.935000	0.37517	0.845000	0.48019	3.187000	0.50950	2.345000	0.79718	0.462000	0.41574	ACG		0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		Missense_Mutation
ACCSL	390110	broad.mit.edu	37	11	44081447	44081447	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr11:44081447T>G	ENST00000378832.1	+	14	1740	c.1684T>G	c.(1684-1686)Ttg>Gtg	p.L562V		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	562					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.L562V(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGTGAAGCAGTTGGAGGATGC	0.537																																																1	Substitution - Missense(1)	ovary(1)	11											263.0	262.0	262.0					11																	44081447		2054	4206	6260	44038023	SO:0001583	missense	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1684T>G	11.37:g.44081447T>G	ENSP00000368109:p.Leu562Val		44038023		Missense_Mutation	SNP	ENST00000378832.1	37	CCDS41636.1	SNP	60	Broad	.	.	.	.	.	.	.	.	.	.	T	8.312	0.822385	0.16678	.	.	ENSG00000205126	ENST00000378832	T	0.69040	-0.37	3.74	0.719	0.18208	.	0.376195	0.24236	N	0.040301	T	0.48409	0.1498	L	0.43152	1.355	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.20338	-1.0278	10	0.23891	T	0.37	0.0354	3.453	0.07505	0.0:0.5077:0.2307:0.2615	.	562	Q4AC99	1A1L2_HUMAN	V	562	ENSP00000368109:L562V	ENSP00000368109:L562V	L	+	1	2	ACCSL	44038023	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.503000	0.06383	0.159000	0.19401	-0.366000	0.07423	TTG		0.537	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		Missense_Mutation
AGBL2	79841	broad.mit.edu	37	11	47707507	47707507	+	Missense_Mutation	SNP	G	G	T	rs377387294		TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr11:47707507G>T	ENST00000525123.1	-	11	2011	c.1726C>A	c.(1726-1728)Cgc>Agc	p.R576S	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.R576S|AGBL2_ENST00000528244.1_Missense_Mutation_p.R538S|AGBL2_ENST00000357610.3_Missense_Mutation_p.R576S	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	576						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R576S(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CAGTATTTGCGATTGTTGTTA	0.363																																																1	Substitution - Missense(1)	ovary(1)	11											214.0	196.0	202.0					11																	47707507		2201	4298	6499	47664083	SO:0001583	missense	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.1726C>A	11.37:g.47707507G>T	ENSP00000435582:p.Arg576Ser		47664083	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	CCDS7944.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337153	0.24253	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.06	5.06	0.68205	Peptidase M14, carboxypeptidase A (1);	0.561345	0.19739	N	0.107163	T	0.06005	0.0156	N	0.05012	-0.13	0.09310	N	1	B;B;B	0.16603	0.014;0.005;0.018	B;B;B	0.23574	0.047;0.036;0.036	T	0.32587	-0.9901	10	0.09084	T	0.74	-6.6998	15.4253	0.75045	0.0:0.149:0.851:0.0	.	538;538;576	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	S	576;576;576;538	ENSP00000435582:R576S;ENSP00000350228:R576S;ENSP00000298861:R576S;ENSP00000436630:R538S	ENSP00000298861:R576S	R	-	1	0	AGBL2	47664083	0.001000	0.12720	0.493000	0.27502	0.901000	0.52897	1.134000	0.31442	2.522000	0.85027	0.491000	0.48974	CGC		0.363	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		Missense_Mutation
AAAS	8086	broad.mit.edu	37	12	53701429	53701429	+	Silent	SNP	G	G	A			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr12:53701429G>A	ENST00000209873.4	-	16	1650	c.1485C>T	c.(1483-1485)agC>agT	p.S495S	AAAS_ENST00000549983.1_5'Flank|AAAS_ENST00000394384.3_Silent_p.S462S|AAAS_ENST00000550286.1_Silent_p.S371S	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	495					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)		p.S495S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CAAGCACTGGGCTAAAACGTG	0.582																																																1	Substitution - coding silent(1)	ovary(1)	12											85.0	89.0	88.0					12																	53701429		2203	4300	6503	51987696	SO:0001819	synonymous_variant	8086			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.1485C>T	12.37:g.53701429G>A			51987696	Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	ENST00000209873.4	37	CCDS8856.1	SNP	42	Broad																																																																																				0.582	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			Silent
ATP6V0A2	23545	broad.mit.edu	37	12	124233130	124233130	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr12:124233130G>A	ENST00000330342.3	+	15	1981	c.1733G>A	c.(1732-1734)aGg>aAg	p.R578K		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	578					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.R578K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AGGCACTTCAGGAAGAAGTTC	0.373																																																1	Substitution - Missense(1)	ovary(1)	12											116.0	120.0	119.0					12																	124233130		2203	4300	6503	122799083	SO:0001583	missense	23545			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1733G>A	12.37:g.124233130G>A	ENSP00000332247:p.Arg578Lys		122799083	A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	CCDS9254.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	5.050	0.194847	0.09599	.	.	ENSG00000185344	ENST00000330342	D	0.83419	-1.72	5.46	3.26	0.37387	.	0.177367	0.64402	D	0.000013	T	0.54711	0.1875	N	0.02765	-0.5	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.53781	-0.8390	10	0.02654	T	1	-29.9725	6.9343	0.24459	0.3423:0.0:0.6577:0.0	.	578	Q9Y487	VPP2_HUMAN	K	578	ENSP00000332247:R578K	ENSP00000332247:R578K	R	+	2	0	ATP6V0A2	122799083	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.957000	0.40392	1.442000	0.47568	-0.263000	0.10527	AGG		0.373	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		Missense_Mutation
ATP11A	23250	broad.mit.edu	37	13	113512571	113512571	+	Silent	SNP	G	G	A			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr13:113512571G>A	ENST00000487903.1	+	22	2722	c.2634G>A	c.(2632-2634)agG>agA	p.R878R	ATP11A_ENST00000283558.8_Silent_p.R878R|ATP11A_ENST00000375630.2_Silent_p.R878R|ATP11A_ENST00000375645.3_Silent_p.R878R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	878					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R878R(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATTACATTAGGATCTCTGAGC	0.522																																																1	Substitution - coding silent(1)	ovary(1)	13											97.0	95.0	96.0					13																	113512571		2203	4300	6503	112560572	SO:0001819	synonymous_variant	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2634G>A	13.37:g.113512571G>A			112560572	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	3.163	-0.171779	0.06421	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.62	0.777	0.18538	.	.	.	.	.	T	0.53158	0.1779	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38478	-0.9659	4	.	.	.	.	6.4664	0.21983	0.2718:0.1197:0.6085:0.0	.	.	.	.	E	853	.	.	G	+	2	0	ATP11A	112560572	0.658000	0.27402	0.038000	0.18304	0.272000	0.26649	-0.151000	0.10175	-0.181000	0.10619	0.655000	0.94253	GGA		0.522	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		Silent
ZFYVE26	23503	broad.mit.edu	37	14	68274137	68274137	+	Silent	SNP	C	C	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr14:68274137C>T	ENST00000347230.4	-	5	1002	c.864G>A	c.(862-864)ccG>ccA	p.P288P	ZFYVE26_ENST00000555452.1_Silent_p.P288P	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	288					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.P288P(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGTAGCCCTCGGTGGCTTTT	0.582																																																1	Substitution - coding silent(1)	ovary(1)	14											42.0	44.0	43.0					14																	68274137		2203	4300	6503	67343890	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.864G>A	14.37:g.68274137C>T			67343890	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	CCDS9788.1	SNP	31	Broad																																																																																				0.582	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		Silent
TICRR	90381	broad.mit.edu	37	15	90119447	90119447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr15:90119447G>A	ENST00000268138.7	+	1	735	c.630G>A	c.(628-630)tgG>tgA	p.W210*	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Nonsense_Mutation_p.W210*			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	210					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.W210*(1)									CCTTCTACTGGGTGGATACCA	0.557																																																1	Substitution - Nonsense(1)	ovary(1)	15											28.0	29.0	29.0					15																	90119447		2047	4188	6235	87920451	SO:0001587	stop_gained	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.630G>A	15.37:g.90119447G>A	ENSP00000268138:p.Trp210*		87920451	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	36	5.706403	0.96821	.	.	ENSG00000140534	ENST00000268138	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1635	16.1716	0.81820	0.0:0.0:1.0:0.0	.	.	.	.	X	210	.	ENSP00000268138:W210X	W	+	3	0	C15orf42	87920451	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.106000	0.89555	2.014000	0.59158	0.467000	0.42956	TGG		0.557	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		Nonsense_Mutation
TRAF7	84231	broad.mit.edu	37	16	2223967	2223967	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr16:2223967G>A	ENST00000326181.6	+	13	1313	c.1181G>A	c.(1180-1182)gGc>gAc	p.G394D		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	394					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G394D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						ACCTTTGTGGGCCACCAGGGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	16											112.0	112.0	112.0					16																	2223967		2198	4300	6498	2163968	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1181G>A	16.37:g.2223967G>A	ENSP00000318944:p.Gly394Asp		2163968	Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	CCDS10461.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496665	0.85069	.	.	ENSG00000131653	ENST00000326181	T	0.70045	-0.45	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84001	0.0343	10	0.87932	D	0	-42.6522	17.5923	0.88000	0.0:0.0:1.0:0.0	.	394	Q6Q0C0	TRAF7_HUMAN	D	394	ENSP00000318944:G394D	ENSP00000318944:G394D	G	+	2	0	TRAF7	2163968	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	9.596000	0.98267	2.623000	0.88846	0.655000	0.94253	GGC		0.617	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		Missense_Mutation
RBFOX1	54715	broad.mit.edu	37	16	7680668	7680668	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr16:7680668T>C	ENST00000550418.1	+	11	1728	c.740T>C	c.(739-741)cTt>cCt	p.L247P	RBFOX1_ENST00000340209.4_Missense_Mutation_p.L252P|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000547338.1_Missense_Mutation_p.L247P|RBFOX1_ENST00000552089.1_Missense_Mutation_p.L264P|RBFOX1_ENST00000436368.2_Missense_Mutation_p.L267P|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L267P|RBFOX1_ENST00000422070.4_Missense_Mutation_p.L290P|RBFOX1_ENST00000355637.4_Missense_Mutation_p.L267P|RBFOX1_ENST00000535565.2_Missense_Mutation_p.L204P|RBFOX1_ENST00000547372.1_Missense_Mutation_p.L290P	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	247					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCAGTTCACTTGTATATACT	0.493																																					Ovarian(157;934 2567 15163 39509)											0			16											182.0	151.0	162.0					16																	7680668		2197	4300	6497	7620669	SO:0001583	missense	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.740T>C	16.37:g.7680668T>C	ENSP00000450031:p.Leu247Pro		7620669	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	CCDS55983.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494926	0.64186	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000340209	T;T;T;T;T;T;T;T;T;T	0.33865	1.86;1.39;1.62;1.67;1.76;1.39;1.56;1.76;1.69;1.4	4.78	4.78	0.61160	.	0.421756	0.22526	N	0.058907	T	0.32466	0.0830	N	0.08118	0	0.80722	D	1	D;P;P;B;P;B;D	0.64830	0.994;0.627;0.467;0.001;0.911;0.158;0.976	P;B;B;B;P;B;P	0.56751	0.805;0.091;0.26;0.008;0.563;0.065;0.792	T	0.18304	-1.0341	10	0.35671	T	0.21	-7.0511	12.9198	0.58226	0.0:0.0:0.0:1.0	.	204;290;267;267;267;247;290	F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1;F8VZG9	.;.;.;.;.;RFOX1_HUMAN;.	P	246;247;290;290;204;264;247;247;267;267;267;252	ENSP00000450402:L246P;ENSP00000450031:L247P;ENSP00000446842:L290P;ENSP00000391269:L290P;ENSP00000447281:L247P;ENSP00000447717:L247P;ENSP00000402745:L267P;ENSP00000309117:L267P;ENSP00000347855:L267P;ENSP00000344196:L252P	ENSP00000309117:L267P	L	+	2	0	RBFOX1	7620669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.696000	0.61774	1.790000	0.52503	0.455000	0.32223	CTT		0.493	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		Missense_Mutation
NFATC2IP	84901	broad.mit.edu	37	16	28965980	28965981	+	Nonsense_Mutation	DNP	AG	AG	CT			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr16:28965980_28965981AG>CT	ENST00000320805.4	+	3	630_631	c.555_556AG>CT	c.(553-558)gaAGag>gaCTag	p.185_186EE>D*	NFATC2IP_ENST00000564978.1_Intron|RP11-264B17.2_ENST00000569974.1_RNA|RP11-264B17.2_ENST00000568057.1_RNA|NFATC2IP_ENST00000562977.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	185					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E185_E186>D*(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						AGGATAAAGAAGAGAAGAAAAA	0.569																																																1	Complex - compound substitution(1)	ovary(1)	16																																								28873482	SO:0001587	stop_gained	84901			AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	Exception_encountered	16.37:g.28965980_28965981delinsCT	ENSP00000324792:p.E185_E186delinsD*		28873481	B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Nonsense_Mutation	DNP	ENST00000320805.4	37	CCDS10645.1	DNP	3	Broad																																																																																				0.569	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		Nonsense_Mutation
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	17											47.0	47.0	47.0					17																	7578394		2203	4300	6503	7519119	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg		7519119	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	51	Broad	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
GGNBP2	79893	broad.mit.edu	37	17	34943498	34943498	+	Silent	SNP	G	G	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr17:34943498G>T	ENST00000304718.4	+	13	2029	c.1713G>T	c.(1711-1713)gtG>gtT	p.V571V		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	571					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.V571V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGCACACAGTGTTTCACCGTG	0.458																																																1	Substitution - coding silent(1)	ovary(1)	17											130.0	122.0	125.0					17																	34943498		2203	4300	6503	32017611	SO:0001819	synonymous_variant	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1713G>T	17.37:g.34943498G>T			32017611	B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	CCDS11314.1	SNP	48	Broad																																																																																				0.458	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		Silent
KIF18B	146909	broad.mit.edu	37	17	43010045	43010045	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr17:43010045C>T	ENST00000593135.1	-	9	1331	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	KIF18B_ENST00000339151.4_Missense_Mutation_p.E412K|KIF18B_ENST00000590129.1_Missense_Mutation_p.E421K|KIF18B_ENST00000438933.2_Missense_Mutation_p.E412K|KIF18B_ENST00000587309.1_Missense_Mutation_p.E412K	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	421	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.E412K(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ACTCACTGTTCTGGTGGTGGT	0.627																																																1	Substitution - Missense(1)	ovary(1)	17											94.0	107.0	103.0					17																	43010045		1961	4130	6091	40365571	SO:0001583	missense	146909				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1234G>A	17.37:g.43010045C>T	ENSP00000465992:p.Glu412Lys		40365571	A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	CCDS45709.2	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391089	0.62066	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.72615	-0.67;-0.67	5.3	-0.59	0.11679	.	.	.	.	.	T	0.41465	0.1160	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.16988	-1.0384	9	0.21014	T	0.42	.	2.0449	0.03558	0.1489:0.3443:0.2643:0.2426	.	421;421;421	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	K	412	ENSP00000412798:E412K;ENSP00000341466:E412K	ENSP00000341466:E412K	E	-	1	0	KIF18B	40365571	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.153000	0.10144	-0.149000	0.11215	-0.225000	0.12378	GAA		0.627	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		Missense_Mutation
DCC	1630	broad.mit.edu	37	18	50832017	50832017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr18:50832017C>T	ENST00000442544.2	+	13	2597	c.1981C>T	c.(1981-1983)Cga>Tga	p.R661*	DCC_ENST00000412726.1_Nonsense_Mutation_p.R509*|DCC_ENST00000581580.1_Nonsense_Mutation_p.R316*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	661	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R661*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTATAAAATTCGACACAGAAA	0.423																																																1	Substitution - Nonsense(1)	ovary(1)	18											72.0	82.0	79.0					18																	50832017		2203	4300	6503	49086015	SO:0001587	stop_gained	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1981C>T	18.37:g.50832017C>T	ENSP00000389140:p.Arg661*		49086015		Nonsense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	40	8.205656	0.98704	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.58	5.58	0.84498	.	0.086607	0.47455	D	0.000228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7178	0.91682	0.0:1.0:0.0:0.0	.	.	.	.	X	661;594;509	.	ENSP00000304146:R594X	R	+	1	2	DCC	49086015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.710000	0.68392	2.774000	0.95407	0.655000	0.94253	CGA		0.423	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		Nonsense_Mutation
ONECUT2	9480	broad.mit.edu	37	18	55143729	55143729	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr18:55143729G>A	ENST00000491143.2	+	2	1321	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	430					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R430H(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AAGAAGTCCCGCCTGGTGTTC	0.517																																																2	Substitution - Missense(2)	ovary(1)|endometrium(1)	18											52.0	58.0	56.0					18																	55143729		2019	4199	6218	53294727	SO:0001583	missense	9480			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1289G>A	18.37:g.55143729G>A	ENSP00000419185:p.Arg430His		53294727		Missense_Mutation	SNP	ENST00000491143.2	37	CCDS42440.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	32	5.175033	0.94807	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	6.02	6.02	0.97574	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89746	0.6804	H	0.95816	3.725	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.91589	0.5285	9	0.72032	D	0.01	-21.7544	20.1323	0.98003	0.0:0.0:1.0:0.0	.	430	O95948	ONEC2_HUMAN	H	411;430	.	ENSP00000262095:R430H	R	+	2	0	ONECUT2	53294727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	CGC		0.517	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			Missense_Mutation
RFXANK	8625	broad.mit.edu	37	19	19309992	19309992	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr19:19309992G>A	ENST00000303088.4	+	9	1135	c.661G>A	c.(661-663)Gac>Aac	p.D221N	RFXANK_ENST00000456252.3_Missense_Mutation_p.D199N|RFXANK_ENST00000407360.3_Missense_Mutation_p.D221N|RFXANK_ENST00000392324.4_Missense_Mutation_p.D198N|RFXANK_ENST00000353145.1_Missense_Mutation_p.D198N	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	221					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.D221N(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			CACCGAAGCCGACTCTGGCTA	0.667																																																1	Substitution - Missense(1)	ovary(1)	19											76.0	75.0	75.0					19																	19309992		2203	4300	6503	19170992	SO:0001583	missense	8625			AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"""Ankyrin repeat domain containing"""	9987	protein-coding gene	gene with protein product	"""ankyrin repeat-containing regulatory factor X-associated protein"", ""regulatory factor X subunit B"", ""RFX-Bdelta4"", ""DNA-binding protein RFXANK"""	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.661G>A	19.37:g.19309992G>A	ENSP00000305071:p.Asp221Asn		19170992	O95839|Q24JQ1|Q6FGA8	Missense_Mutation	SNP	ENST00000303088.4	37	CCDS12395.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788045	0.90367	.	.	ENSG00000064490	ENST00000353145;ENST00000456252;ENST00000303088;ENST00000407360;ENST00000392324	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.19	5.19	0.71726	Ankyrin repeat-containing domain (3);	0.189268	0.53938	D	0.000056	T	0.60379	0.2264	L	0.52573	1.65	0.58432	D	0.999999	P;P;P;P	0.52692	0.955;0.924;0.839;0.91	P;P;P;B	0.49561	0.603;0.615;0.537;0.431	T	0.59247	-0.7490	10	0.02654	T	1	-31.3837	16.19	0.81981	0.0:0.0:1.0:0.0	.	221;199;198;221	Q6IB23;Q24JQ1;O14593-2;O14593	.;.;.;RFXK_HUMAN	N	198;199;221;220;198	ENSP00000262804:D198N;ENSP00000409138:D199N;ENSP00000305071:D221N;ENSP00000384572:D220N;ENSP00000376138:D198N	ENSP00000305071:D221N	D	+	1	0	RFXANK	19170992	1.000000	0.71417	0.967000	0.41034	0.809000	0.45718	8.638000	0.91019	2.435000	0.82474	0.561000	0.74099	GAC		0.667	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2	NM_003721		Missense_Mutation
ZNF585B	92285	broad.mit.edu	37	19	37678050	37678050	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr19:37678050T>C	ENST00000532828.2	-	5	640	c.389A>G	c.(388-390)tAt>tGt	p.Y130C	ZNF585B_ENST00000531805.1_Missense_Mutation_p.Y75C|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_Missense_Mutation_p.Y130C|ZNF585B_ENST00000312908.5_5'Flank	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y130C(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCACACTCATAGGATTTTTC	0.363																																					Melanoma(93;882 1454 18863 28917 48427)											1	Substitution - Missense(1)	ovary(1)	19											67.0	71.0	69.0					19																	37678050		2202	4300	6502	42369890	SO:0001583	missense	92285			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.389A>G	19.37:g.37678050T>C	ENSP00000433773:p.Tyr130Cys		42369890	Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	CCDS12500.1	SNP	49	Broad	.	.	.	.	.	.	.	.	.	.	T	0.163	-1.078887	0.01903	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000527838	T;T;T	0.37235	1.21;1.21;6.44	2.71	0.0434	0.14221	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.260319	0.20351	N	0.094046	T	0.36413	0.0966	M	0.79693	2.465	0.34909	D	0.747298	D	0.58620	0.983	B	0.44044	0.439	T	0.47636	-0.9102	10	0.59425	D	0.04	.	4.5742	0.12225	0.1917:0.0:0.1981:0.6102	.	130	Q52M93	Z585B_HUMAN	C	75;130;130	ENSP00000436774:Y75C;ENSP00000433773:Y130C;ENSP00000435268:Y130C	ENSP00000435268:Y130C	Y	-	2	0	ZNF585B	42369890	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.119000	0.15626	-0.198000	0.10333	0.374000	0.22700	TAT		0.363	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		Missense_Mutation
MFSD2B	388931	broad.mit.edu	37	2	24244609	24244609	+	Splice_Site	SNP	G	G	A			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr2:24244609G>A	ENST00000406420.3	+	7	788		c.e7+1		MFSD2B_ENST00000338315.4_Splice_Site	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B						transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GAGCGGCCAGGTATGGGGTTT	0.582																																																0			2											50.0	53.0	52.0					2																	24244609		1944	4139	6083	24098113	SO:0001630	splice_region_variant	388931				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.772+1G>A	2.37:g.24244609G>A			24098113	B5MC32	Splice_Site_SNP	SNP	ENST00000406420.3	37	CCDS46228.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	g	16.86	3.240297	0.58995	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	.	.	.	4.68	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.137	0.31061	0.1062:0.0:0.8938:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFSD2B	24098113	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	1.570000	0.36439	2.606000	0.88127	0.555000	0.69702	.		0.582	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473	Intron	Splice_Site_SNP
FAM179A	165186	broad.mit.edu	37	2	29221081	29221081	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr2:29221081C>T	ENST00000379558.4	+	3	452	c.101C>T	c.(100-102)cCg>cTg	p.P34L	FAM179A_ENST00000403861.2_Missense_Mutation_p.P34L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	34								p.P34L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGGGTGCTCCCGCCTGGAAGC	0.647																																																1	Substitution - Missense(1)	ovary(1)	2											20.0	23.0	22.0					2																	29221081		1962	4144	6106	29074585	SO:0001583	missense	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.101C>T	2.37:g.29221081C>T	ENSP00000368876:p.Pro34Leu		29074585	Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077164	0.36662	.	.	ENSG00000189350	ENST00000420297;ENST00000379558;ENST00000403861	T;T;T	0.44881	0.91;3.23;3.01	4.44	0.155	0.14906	.	.	.	.	.	T	0.23766	0.0575	N	0.24115	0.695	0.09310	N	1	B;B	0.15719	0.01;0.014	B;B	0.09377	0.004;0.003	T	0.17806	-1.0357	9	0.35671	T	0.21	.	3.874	0.09048	0.3245:0.4776:0.0:0.198	.	34;34	F8W8E4;Q6ZUX3	.;F179A_HUMAN	L	34	ENSP00000402415:P34L;ENSP00000368876:P34L;ENSP00000384699:P34L	ENSP00000368876:P34L	P	+	2	0	FAM179A	29074585	0.001000	0.12720	0.000000	0.03702	0.805000	0.45488	-0.244000	0.08903	0.094000	0.17404	0.561000	0.74099	CCG		0.647	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		Missense_Mutation
NRXN1	9378	broad.mit.edu	37	2	50765667	50765667	+	Missense_Mutation	SNP	C	C	T	rs200251545		TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr2:50765667C>T	ENST00000406316.2	-	10	3343	c.1867G>A	c.(1867-1869)Gct>Act	p.A623T	NRXN1_ENST00000404971.1_Missense_Mutation_p.A663T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A623T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A623T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A615T|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.A615T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	623	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.A623T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACAAGGCCAGCTTTATTTTCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	2											104.0	114.0	111.0					2																	50765667		2198	4297	6495	50619171	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1867G>A	2.37:g.50765667C>T	ENSP00000384311:p.Ala623Thr		50619171	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710078	0.48517	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.13	5.13	0.70059	.	0.247932	0.39407	N	0.001368	T	0.71896	0.3394	L	0.35723	1.085	0.34278	D	0.681757	B;B;B	0.32467	0.029;0.012;0.372	B;B;B	0.36766	0.036;0.012;0.232	T	0.72940	-0.4139	10	0.16420	T	0.52	.	18.7706	0.91890	0.0:1.0:0.0:0.0	.	663;623;615	Q9ULB1-3;F8WB18;A7E294	.;.;.	T	663;623;615;623;664;615;623	ENSP00000385142:A663T;ENSP00000384311:A623T;ENSP00000434015:A615T;ENSP00000385017:A623T;ENSP00000385434:A615T;ENSP00000385681:A623T	ENSP00000385017:A623T	A	-	1	0	NRXN1	50619171	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.930000	0.48924	2.660000	0.90430	0.557000	0.71058	GCT		0.522	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			Missense_Mutation
UXS1	80146	broad.mit.edu	37	2	106761805	106761805	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr2:106761805C>G	ENST00000409501.3	-	6	355	c.298G>C	c.(298-300)Gtg>Ctg	p.V100L	UXS1_ENST00000283148.7_Missense_Mutation_p.V105L|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000540130.1_Missense_Mutation_p.V43L			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	100					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.V105L(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGGGAGCCCACGAACCCTGCG	0.552																																																2	Substitution - Missense(2)	ovary(2)	2											82.0	81.0	81.0					2																	106761805		2100	4229	6329	106128237	SO:0001583	missense	80146			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.298G>C	2.37:g.106761805C>G	ENSP00000387019:p.Val100Leu		106128237	Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	CCDS46378.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219112	0.79464	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91553	0.7332	N	0.03891	-0.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89228	0.3575	10	0.13470	T	0.59	-9.4627	20.1381	0.98040	0.0:1.0:0.0:0.0	.	105;100	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	L	105;43;100;43	ENSP00000283148:V105L;ENSP00000438265:V43L;ENSP00000387019:V100L;ENSP00000399316:V43L	ENSP00000283148:V105L	V	-	1	0	UXS1	106128237	1.000000	0.71417	0.995000	0.50966	0.802000	0.45316	7.456000	0.80751	2.763000	0.94921	0.650000	0.86243	GTG		0.552	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		Missense_Mutation
CNTNAP5	129684	broad.mit.edu	37	2	125671768	125671768	+	Missense_Mutation	SNP	A	A	C			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr2:125671768A>C	ENST00000431078.1	+	24	4188	c.3824A>C	c.(3823-3825)aAg>aCg	p.K1275T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1275					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.K1275T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCCAGATGAAGGAGAAGGAA	0.438																																																1	Substitution - Missense(1)	ovary(1)	2											148.0	143.0	145.0					2																	125671768		1942	4155	6097	125388238	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3824A>C	2.37:g.125671768A>C	ENSP00000399013:p.Lys1275Thr		125388238	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	SNP	3	Broad	.	.	.	.	.	.	.	.	.	.	A	13.95	2.388610	0.42308	.	.	ENSG00000155052	ENST00000431078	D	0.92858	-3.12	5.86	5.86	0.93980	.	0.000000	0.52532	D	0.000080	D	0.95793	0.8631	M	0.78456	2.415	0.53688	D	0.999976	D	0.76494	0.999	D	0.80764	0.994	D	0.95807	0.8838	10	0.54805	T	0.06	.	15.4241	0.75038	1.0:0.0:0.0:0.0	.	1275	Q8WYK1	CNTP5_HUMAN	T	1275	ENSP00000399013:K1275T	ENSP00000399013:K1275T	K	+	2	0	CNTNAP5	125388238	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	6.462000	0.73526	2.237000	0.73441	0.519000	0.50382	AAG		0.438	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			Missense_Mutation
APMAP	57136	broad.mit.edu	37	20	24949674	24949674	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr20:24949674C>T	ENST00000217456.2	-	8	1185	c.895G>A	c.(895-897)Gag>Aag	p.E299K	APMAP_ENST00000447138.1_Intron	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	299					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)	p.E299K(1)									GGCATGTTCTCCACAAACAGA	0.532																																																1	Substitution - Missense(1)	ovary(1)	20											69.0	66.0	67.0					20																	24949674		2203	4300	6503	24897674	SO:0001583	missense	57136			AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.895G>A	20.37:g.24949674C>T	ENSP00000217456:p.Glu299Lys		24897674	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	37	CCDS13166.1	SNP	30	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.664714|4.664714	0.88251|0.88251	.|.	.|.	ENSG00000101474|ENSG00000101474	ENST00000217456|ENST00000451442	T|.	0.31510|.	1.49|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Six-bladed beta-propeller, TolB-like (1);|.	0.131062|.	0.64402|.	D|.	0.000001|.	T|.	0.76300|.	0.3968|.	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	P;P|.	0.50443|.	0.935;0.615|.	P;B|.	0.45310|.	0.476;0.276|.	T|.	0.75422|.	-0.3323|.	10|.	0.42905|.	T|.	0.14|.	-28.3517|-28.3517	17.3202|17.3202	0.87233|0.87233	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	283;299|.	A2A2F9;Q9HDC9|.	.;APMAP_HUMAN|.	K|X	299|283	ENSP00000217456:E299K|.	ENSP00000217456:E299K|.	E|W	-|-	1|3	0|0	C20orf3|C20orf3	24897674|24897674	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	7.687000|7.687000	0.84139|0.84139	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	GAG|TGG		0.532	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		Missense_Mutation
TRIOBP	11078	broad.mit.edu	37	22	38119398	38119398	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr22:38119398T>C	ENST00000406386.3	+	7	1090	c.835T>C	c.(835-837)Tcc>Ccc	p.S279P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	279					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.S279P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCCAGAGCCTCCTCTCCCCA	0.592																																																1	Substitution - Missense(1)	ovary(1)	22											96.0	112.0	107.0					22																	38119398		2080	4217	6297	36449344	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.835T>C	22.37:g.38119398T>C	ENSP00000384312:p.Ser279Pro		36449344	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	SNP	54	Broad	.	.	.	.	.	.	.	.	.	.	T	14.14	2.447082	0.43429	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.31769	1.48	3.83	1.63	0.23807	.	.	.	.	.	T	0.12475	0.0303	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.11916	-1.0568	9	0.31617	T	0.26	.	2.6936	0.05127	0.2545:0.1279:0.0:0.6175	.	279	Q9H2D6	TARA_HUMAN	P	279	ENSP00000384312:S279P	ENSP00000384312:S279P	S	+	1	0	TRIOBP	36449344	0.014000	0.17966	0.287000	0.24848	0.052000	0.14988	0.061000	0.14366	0.093000	0.17368	0.374000	0.22700	TCC		0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			Missense_Mutation
DVL3	1857	broad.mit.edu	37	3	183882623	183882623	+	Missense_Mutation	SNP	G	G	A	rs372800702		TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr3:183882623G>A	ENST00000313143.3	+	5	751	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	DVL3_ENST00000462665.1_3'UTR|DVL3_ENST00000431765.1_Missense_Mutation_p.R168Q|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	168					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.R168Q(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GAACGGCGGCGAGAACCAGGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	3						G	GLN/ARG	0,4406		0,0,2203	75.0	79.0	78.0		503	5.2	1.0	3		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	DVL3	NM_004423.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	168/717	183882623	1,13005	2203	4300	6503	185365317	SO:0001583	missense	1857			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.503G>A	3.37:g.183882623G>A	ENSP00000316054:p.Arg168Gln		185365317	B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	CCDS3253.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850049	0.71603	0.0	1.16E-4	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765;ENST00000423300	T;T;T	0.06528	3.74;3.74;3.29	5.18	5.18	0.71444	Dishevelled protein domain (1);	0.203652	0.41823	D	0.000808	T	0.20292	0.0488	L	0.47016	1.485	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72982	0.979;0.979	T	0.00233	-1.1894	10	0.46703	T	0.11	-15.435	19.0742	0.93154	0.0:0.0:1.0:0.0	.	168;168	B4E3E5;Q92997	.;DVL3_HUMAN	Q	168;168;168;66	ENSP00000316054:R168Q;ENSP00000405885:R168Q;ENSP00000393849:R66Q	ENSP00000316054:R168Q	R	+	2	0	DVL3	185365317	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.760000	0.85248	2.582000	0.87167	0.655000	0.94253	CGA		0.572	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		Missense_Mutation
CPN2	1370	broad.mit.edu	37	3	194062382	194062382	+	Silent	SNP	C	C	G			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr3:194062382C>G	ENST00000323830.3	-	2	1139	c.1050G>C	c.(1048-1050)acG>acC	p.T350T	CPN2_ENST00000429275.1_Silent_p.T350T	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	350					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.T350T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGTGCAGCGCCGTAAGGTTGT	0.572																																																1	Substitution - coding silent(1)	ovary(1)	3											67.0	70.0	69.0					3																	194062382		2203	4300	6503	195544077	SO:0001819	synonymous_variant	1370			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1050G>C	3.37:g.194062382C>G			195544077	B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	CCDS33920.1	SNP	23	Broad																																																																																				0.572	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		Silent
TNK2	10188	broad.mit.edu	37	3	195595268	195595268	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr3:195595268G>A	ENST00000333602.6	-	12	2473	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M	TNK2_ENST00000428187.1_Missense_Mutation_p.T651M|TNK2_ENST00000381916.2_Missense_Mutation_p.T697M|TNK2_ENST00000392400.1_Missense_Mutation_p.T619M	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	619	Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)	p.T697M(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CACCACAGGCGTGGGGTGCAG	0.716																																																1	Substitution - Missense(1)	ovary(1)	3											12.0	17.0	15.0					3																	195595268		2014	4123	6137	197079665	SO:0001583	missense	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1856C>T	3.37:g.195595268G>A	ENSP00000329425:p.Thr619Met		197079665	Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	ENST00000333602.6	37	CCDS33928.1	SNP	40	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.49|17.49	3.402882|3.402882	0.62288|0.62288	.|.	.|.	ENSG00000061938|ENSG00000061938	ENST00000424563|ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	.|T;T;T;T;T	.|0.54675	.|0.56;0.56;0.56;0.56;0.56	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63616|0.63616	0.2526|0.2526	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.977;0.991;0.971;1.0	.|P;P;B;D	.|0.91635	.|0.487;0.742;0.38;0.999	T|T	0.60337|0.60337	-0.7283|-0.7283	5|10	.|0.35671	.|T	.|0.21	.|.	18.0174|18.0174	0.89246|0.89246	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|619;697;651;144	.|Q07912;Q07912-3;C9J1X3;B3KXJ4	.|ACK1_HUMAN;.;.;.	C|M	229|619;697;186;651;619	.|ENSP00000329425:T619M;ENSP00000371341:T697M;ENSP00000398614:T186M;ENSP00000392546:T651M;ENSP00000376201:T619M	.|ENSP00000329425:T619M	R|T	-|-	1|2	0|0	TNK2|TNK2	197079665|197079665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.243000|9.243000	0.95416|0.95416	2.599000|2.599000	0.87857|0.87857	0.586000|0.586000	0.80456|0.80456	CGC|ACG		0.716	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		Missense_Mutation
UGT2A1	10941	broad.mit.edu	37	4	70513238	70513238	+	Missense_Mutation	SNP	T	T	G			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr4:70513238T>G	ENST00000503640.1	-	1	180	c.125A>C	c.(124-126)gAg>gCg	p.E42A	UGT2A1_ENST00000512704.1_Missense_Mutation_p.E42A|UGT2A1_ENST00000514019.1_Missense_Mutation_p.E42A|UGT2A1_ENST00000286604.4_Missense_Mutation_p.E42A	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	42					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTAATGAGCTCATCTATAAT	0.393																																																0			4											85.0	80.0	82.0					4																	70513238		2203	4299	6502	70547827	SO:0001583	missense	10941			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.125A>C	4.37:g.70513238T>G	ENSP00000424478:p.Glu42Ala		70547827	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	CCDS3529.1	SNP	54	Broad	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681665	0.29872	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604;ENST00000505512	T;T;T;T;T	0.61274	0.12;0.13;0.12;0.12;0.12	5.93	3.5	0.40072	.	0.270125	0.37857	N	0.001915	T	0.51941	0.1704	L	0.47016	1.485	.	.	.	P;B;B;B	0.35575	0.51;0.134;0.033;0.026	B;B;B;B	0.42462	0.388;0.047;0.038;0.027	T	0.62220	-0.6900	9	0.46703	T	0.11	.	6.7554	0.23510	0.0:0.0792:0.1552:0.7656	.	42;42;42;42	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	A	42	ENSP00000424478:E42A;ENSP00000421432:E42A;ENSP00000425497:E42A;ENSP00000286604:E42A;ENSP00000427709:E42A	ENSP00000286604:E42A	E	-	2	0	UGT2A1	70547827	0.993000	0.37304	0.892000	0.35008	0.820000	0.46376	3.297000	0.51810	1.044000	0.40200	0.533000	0.62120	GAG		0.393	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		Missense_Mutation
MUC7	4589	broad.mit.edu	37	4	71346646	71346646	+	Missense_Mutation	SNP	C	C	G			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr4:71346646C>G	ENST00000304887.5	+	3	375	c.185C>G	c.(184-186)tCc>tGc	p.S62C	MUC7_ENST00000413702.1_Missense_Mutation_p.S62C|MUC7_ENST00000456088.1_Missense_Mutation_p.S62C|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	62					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S62C(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ATTAGAAAGTCCTATAAATGT	0.458																																																1	Substitution - Missense(1)	ovary(1)	4											173.0	169.0	170.0					4																	71346646		2203	4300	6503	71381235	SO:0001583	missense	4589			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.185C>G	4.37:g.71346646C>G	ENSP00000302021:p.Ser62Cys		71381235	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	CCDS3541.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	8.252	0.809228	0.16537	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.55234	0.54;0.53;0.54;0.54	2.79	-1.95	0.07548	.	.	.	.	.	T	0.30166	0.0756	N	0.08118	0	0.09310	N	1	P	0.45827	0.867	B	0.43950	0.437	T	0.19877	-1.0292	9	0.66056	D	0.02	2.7449	4.7492	0.13052	0.5453:0.3248:0.0:0.1299	.	62	Q8TAX7	MUC7_HUMAN	C	62	ENSP00000407422:S62C;ENSP00000427594:S62C;ENSP00000400585:S62C;ENSP00000302021:S62C	ENSP00000302021:S62C	S	+	2	0	MUC7	71381235	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.436000	0.06922	-0.501000	0.06605	0.655000	0.94253	TCC		0.458	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		Missense_Mutation
RAD1	5810	broad.mit.edu	37	5	34914913	34914913	+	Missense_Mutation	SNP	T	T	C			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr5:34914913T>C	ENST00000382038.2	-	2	1504	c.85A>G	c.(85-87)Act>Gct	p.T29A	RAD1_ENST00000341754.4_Missense_Mutation_p.T29A|BRIX1_ENST00000336767.5_5'Flank	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 checkpoint DNA exonuclease	29					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|meiotic recombination checkpoint (GO:0051598)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|substantia nigra development (GO:0021762)	chromosome (GO:0005694)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|damaged DNA binding (GO:0003684)|exodeoxyribonuclease III activity (GO:0008853)			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTCAAGATAGTGGAGAGATTC	0.458								Other conserved DNA damage response genes																																								0			5											131.0	119.0	123.0					5																	34914913		2203	4300	6503	34950670	SO:0001583	missense	5810			AF074717	CCDS3905.1	5p13	2014-08-08	2014-08-08		ENSG00000113456	ENSG00000113456	3.1.11.2		9806	protein-coding gene	gene with protein product	"""exonuclease homolog RAD1"", ""checkpoint control protein HRAD1"", ""cell cycle checkpoint protein Hrad1"", ""Rad1-like DNA damage checkpoint"", ""DNA repair exonuclease REC1"""	603153	"""RAD1 (S. pombe) homolog"", ""RAD1 homolog (S. pombe)"""			9716408, 9828137	Standard	NR_026591		Approved	HRAD1, REC1	uc003jix.3	O60671	OTTHUMG00000090783	ENST00000382038.2:c.85A>G	5.37:g.34914913T>C	ENSP00000371469:p.Thr29Ala		34950670	O75572|O95304|Q1W161|Q5KSM0|Q5KSM1|Q9UEP1	Missense_Mutation	SNP	ENST00000382038.2	37	CCDS3905.1	SNP	59	Broad	.	.	.	.	.	.	.	.	.	.	T	13.34	2.207101	0.39003	.	.	ENSG00000113456	ENST00000382038;ENST00000341754;ENST00000542494	T;T	0.16743	2.32;2.32	5.83	5.83	0.93111	.	0.152252	0.56097	D	0.000025	T	0.16981	0.0408	L	0.42581	1.335	0.42819	D	0.993981	B	0.19331	0.035	B	0.24701	0.055	T	0.07712	-1.0758	10	0.13853	T	0.58	.	15.3939	0.74774	0.0:0.0:0.0:1.0	.	29	O60671	RAD1_HUMAN	A	29	ENSP00000371469:T29A;ENSP00000340879:T29A	ENSP00000313467:T29A	T	-	1	0	RAD1	34950670	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.368000	0.79567	2.236000	0.73375	0.533000	0.62120	ACT		0.458	RAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207567.1	NM_002853		Missense_Mutation
WDR70	55100	broad.mit.edu	37	5	37480010	37480010	+	Missense_Mutation	SNP	A	A	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr5:37480010A>T	ENST00000265107.4	+	8	917	c.761A>T	c.(760-762)aAg>aTg	p.K254M	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Missense_Mutation_p.K254M	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	254							enzyme binding (GO:0019899)	p.K254M(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTCAGGCCAAGGTGATTGAC	0.388																																																1	Substitution - Missense(1)	ovary(1)	5											213.0	200.0	204.0					5																	37480010		2203	4300	6503	37515767	SO:0001583	missense	55100			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.761A>T	5.37:g.37480010A>T	ENSP00000265107:p.Lys254Met		37515767	Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	CCDS34147.1	SNP	3	Broad	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580313	0.86645	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.89343	4.87;-2.5	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95027	0.8390	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.98	D	0.95609	0.8670	10	0.66056	D	0.02	-29.8331	15.9009	0.79377	1.0:0.0:0.0:0.0	.	254;254	D6RIW8;Q9NW82	.;WDR70_HUMAN	M	254	ENSP00000265107:K254M;ENSP00000425841:K254M	ENSP00000265107:K254M	K	+	2	0	WDR70	37515767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.769000	0.91742	2.173000	0.68751	0.533000	0.62120	AAG		0.388	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		Missense_Mutation
DMGDH	29958	broad.mit.edu	37	5	78359473	78359473	+	Missense_Mutation	SNP	T	T	C	rs369030617		TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr5:78359473T>C	ENST00000255189.3	-	2	267	c.239A>G	c.(238-240)gAg>gGg	p.E80G	DMGDH_ENST00000380311.4_Silent_p.G35G|DMGDH_ENST00000540686.1_Missense_Mutation_p.R6G|DMGDH_ENST00000520388.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	80					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.E80G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CTCTGATTTCTCCAGCAGGAC	0.483																																																1	Substitution - Missense(1)	ovary(1)	5						T	GLY/GLU	0,4406		0,0,2203	233.0	200.0	211.0		239	5.5	1.0	5		211	1,8599	1.2+/-3.3	0,1,4299	no	missense	DMGDH	NM_013391.2	98	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	80/867	78359473	1,13005	2203	4300	6503	78395229	SO:0001583	missense	29958			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.239A>G	5.37:g.78359473T>C	ENSP00000255189:p.Glu80Gly		78395229	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	SNP	54	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.068477|4.068477	0.76301|0.76301	0.0|0.0	1.16E-4|1.16E-4	ENSG00000132837|ENSG00000132837	ENST00000255189|ENST00000540686	D|T	0.92446|0.80738	-3.04|-1.41	5.52|5.52	5.52|5.52	0.82312|0.82312	FAD dependent oxidoreductase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83450|0.83450	0.5257|0.5257	M|M	0.89414|0.89414	3.03|3.03	0.36262|0.36262	D|D	0.854634|0.854634	D|B	0.89917|0.24963	1.0|0.115	D|B	0.97110|0.23275	1.0|0.045	D|D	0.84588|0.84588	0.0665|0.0665	10|8	0.87932|.	D|.	0|.	.|.	15.9319|15.9319	0.79668|0.79668	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	80|6	Q9UI17|B4E1J9	M2GD_HUMAN|.	G|G	80|6	ENSP00000255189:E80G|ENSP00000439478:R6G	ENSP00000255189:E80G|.	E|R	-|-	2|1	0|2	DMGDH|DMGDH	78395229|78395229	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.880000|7.880000	0.87243|0.87243	2.225000|2.225000	0.72522|0.72522	0.459000|0.459000	0.35465|0.35465	GAG|AGA		0.483	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		Missense_Mutation
FBN2	2201	broad.mit.edu	37	5	127685145	127685145	+	Silent	SNP	C	C	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr5:127685145C>T	ENST00000508053.1	-	29	3857	c.2883G>A	c.(2881-2883)gtG>gtA	p.V961V	FBN2_ENST00000508989.1_Silent_p.V928V|FBN2_ENST00000262464.4_Silent_p.V961V			P35556	FBN2_HUMAN	fibrillin 2	961	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.V961V(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGCCAGGGAACACCTCACACT	0.478																																																1	Substitution - coding silent(1)	ovary(1)	5											95.0	77.0	83.0					5																	127685145		2203	4300	6503	127713044	SO:0001819	synonymous_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2883G>A	5.37:g.127685145C>T			127713044	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1	SNP	17	Broad																																																																																				0.478	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		Silent
PCDHB13	56123	broad.mit.edu	37	5	140594275	140594276	+	Missense_Mutation	DNP	GA	GA	CG			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr5:140594275_140594276GA>CG	ENST00000341948.4	+	1	767_768	c.580_581GA>CG	c.(580-582)GAg>CGg	p.E194R		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	194	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E194R(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAATACCCAGAGCTGGTGCTG	0.52																																																1	Substitution - Missense(1)	ovary(1)	5																																								140574460	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	Exception_encountered	5.37:g.140594275_140594276delinsCG	ENSP00000345491:p.Glu194Arg		140574459	A8K9V6	Missense_Mutation	DNP	ENST00000341948.4	37	CCDS4255.1	DNP	33	Broad																																																																																				0.520	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		Missense_Mutation
GMNN	51053	broad.mit.edu	37	6	24784337	24784337	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr6:24784337G>T	ENST00000230056.3	+	5	629	c.297G>T	c.(295-297)tgG>tgT	p.W99C	GMNN_ENST00000356509.3_Missense_Mutation_p.W99C	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	99	Necessary and sufficient for interaction with IDAS and CDT1.				mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)	p.W99C(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						CTCAGTATTGGAAGGAAGTGG	0.284																																																1	Substitution - Missense(1)	ovary(1)	6											45.0	46.0	45.0					6																	24784337		2203	4300	6503	24892316	SO:0001583	missense	51053			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.297G>T	6.37:g.24784337G>T	ENSP00000230056:p.Trp99Cys		24892316	B3KMM8|Q9H1Z1	Missense_Mutation	SNP	ENST00000230056.3	37	CCDS4560.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838225	0.71373	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054;ENST00000378059	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66348	-0.5946	10	0.87932	D	0	-14.9459	14.5133	0.67802	0.0701:0.0:0.9299:0.0	.	99	O75496	GEMI_HUMAN	C	99	ENSP00000348902:W99C;ENSP00000230056:W99C;ENSP00000367293:W99C;ENSP00000367298:W99C	ENSP00000230056:W99C	W	+	3	0	GMNN	24892316	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.478000	0.73596	2.890000	0.99128	0.650000	0.86243	TGG		0.284	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895		Missense_Mutation
BRD2	6046	broad.mit.edu	37	6	32944462	32944462	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr6:32944462C>T	ENST00000374825.4	+	7	2650	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	BRD2_ENST00000443797.2_Missense_Mutation_p.R197C|BRD2_ENST00000395287.1_Missense_Mutation_p.R317C|BRD2_ENST00000395289.2_Missense_Mutation_p.R317C|BRD2_ENST00000374831.4_Missense_Mutation_p.R317C|BRD2_ENST00000449085.2_Missense_Mutation_p.R270C	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	317					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.R317C(1)		central_nervous_system(3)|stomach(2)	5						TCCCCCTATGCGTAGAGAGAG	0.547																																																1	Substitution - Missense(1)	ovary(1)	6											111.0	104.0	107.0					6																	32944462		1511	2709	4220	33052440	SO:0001583	missense	6046			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.949C>T	6.37:g.32944462C>T	ENSP00000363958:p.Arg317Cys		33052440	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948042	0.53186	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.12039	2.87;2.87;2.83;2.72;2.83;2.85	5.19	2.34	0.29019	.	0.000000	0.49305	D	0.000145	T	0.26774	0.0655	M	0.88775	2.98	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.05084	-1.0907	10	0.87932	D	0	-11.9101	7.3382	0.26621	0.2989:0.6204:0.0:0.0807	.	317;317	A2AAU0;P25440	.;BRD2_HUMAN	C	317;317;317;197;317;270	ENSP00000363958:R317C;ENSP00000363964:R317C;ENSP00000378704:R317C;ENSP00000413495:R197C;ENSP00000378702:R317C;ENSP00000409145:R270C	ENSP00000363958:R317C	R	+	1	0	BRD2	33052440	0.317000	0.24589	0.890000	0.34922	0.868000	0.49771	0.522000	0.22909	0.387000	0.25024	0.643000	0.83706	CGT		0.547	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2			Missense_Mutation
MRPL14	64928	broad.mit.edu	37	6	44081843	44081843	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr6:44081843G>T	ENST00000372014.3	-	3	306	c.175C>A	c.(175-177)Cat>Aat	p.H59N		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	59					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.H59N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			TTATAGACATGGATGCAGCGA	0.562																																																1	Substitution - Missense(1)	ovary(1)	6											192.0	192.0	192.0					6																	44081843		2203	4300	6503	44189821	SO:0001583	missense	64928			AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"""Mitochondrial ribosomal proteins / large subunits"""	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.175C>A	6.37:g.44081843G>T	ENSP00000361084:p.His59Asn		44189821	B2R575|Q96Q72	Missense_Mutation	SNP	ENST00000372014.3	37	CCDS34460.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299300	0.60195	.	.	ENSG00000180992	ENST00000372014	.	.	.	5.79	5.79	0.91817	Ribosomal protein L14 domain (2);	0.000000	0.85682	D	0.000000	T	0.71771	0.3379	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.72340	-0.4323	9	0.62326	D	0.03	-3.8681	19.0191	0.92906	0.0:0.0:1.0:0.0	.	59	Q6P1L8	RM14_HUMAN	N	59	.	ENSP00000361084:H59N	H	-	1	0	MRPL14	44189821	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	9.858000	0.99539	2.728000	0.93425	0.561000	0.74099	CAT		0.562	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1	NM_032111		Missense_Mutation
DDX43	55510	broad.mit.edu	37	6	74104868	74104868	+	Silent	SNP	C	C	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr6:74104868C>T	ENST00000370336.4	+	1	398	c.240C>T	c.(238-240)ggC>ggT	p.G80G	DDX43_ENST00000539829.1_Silent_p.G80G|OOEP_ENST00000370363.1_5'Flank|snoU13_ENST00000459178.1_RNA	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	80	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.G80G(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ACTTTGTTGGCGCGGTAATCG	0.647											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	6											45.0	35.0	38.0					6																	74104868		2203	4299	6502	74161589	SO:0001819	synonymous_variant	55510				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.240C>T	6.37:g.74104868C>T		1150	74161589	B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	37	CCDS4977.1	SNP	27	Broad																																																																																				0.647	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		Silent
RRAGD	58528	broad.mit.edu	37	6	90077897	90077897	+	Missense_Mutation	SNP	G	G	A			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr6:90077897G>A	ENST00000369415.4	-	7	1357	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	RRAGD_ENST00000359203.3_Missense_Mutation_p.R210W	NM_021244.4	NP_067067.1			Ras-related GTP binding D									p.R361W(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		ATGGCCTTCCGGAAGCAATGA	0.388											OREG0017566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	6											66.0	71.0	69.0					6																	90077897		2203	4300	6503	90134616	SO:0001583	missense	58528			AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.1081C>T	6.37:g.90077897G>A	ENSP00000358423:p.Arg361Trp	1272	90134616		Missense_Mutation	SNP	ENST00000369415.4	37	CCDS5022.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235973	0.79800	.	.	ENSG00000025039	ENST00000369415;ENST00000359203	.	.	.	5.56	5.56	0.83823	.	0.055860	0.64402	D	0.000001	T	0.80924	0.4717	M	0.81802	2.56	0.53688	D	0.999971	D	0.89917	1.0	D	0.68621	0.959	T	0.82432	-0.0460	9	0.87932	D	0	-14.1004	19.8898	0.96926	0.0:0.0:1.0:0.0	.	361	Q9NQL2	RRAGD_HUMAN	W	361;210	.	ENSP00000352131:R210W	R	-	1	2	RRAGD	90134616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.070000	0.50033	2.775000	0.95449	0.655000	0.94253	CGG		0.388	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		Missense_Mutation
DBNL	28988	broad.mit.edu	37	7	44100378	44100379	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr7:44100378_44100379GA>TG	ENST00000448521.1	+	13	1254_1255	c.1156_1157GA>TG	c.(1156-1158)GAc>TGc	p.D386C	DBNL_ENST00000440166.1_Missense_Mutation_p.D283C|DBNL_ENST00000468694.1_Missense_Mutation_p.D395C|DBNL_ENST00000452943.1_Missense_Mutation_p.D362C|DBNL_ENST00000490734.2_Missense_Mutation_p.D292C|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Missense_Mutation_p.D338C|DBNL_ENST00000494774.1_Missense_Mutation_p.D387C	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	386	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)	p.D387C(1)		breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CTTTGCAGCCGACGACACAGAG	0.624																																					NSCLC(68;573 1327 18604 34760 37992)											1	Substitution - Missense(1)	ovary(1)	7																																								44066904	SO:0001583	missense	28988			AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	Exception_encountered	7.37:g.44100378_44100379delinsTG	ENSP00000411701:p.Asp386Cys		44066903	A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	DNP	ENST00000448521.1	37	CCDS34623.1	DNP	37	Broad																																																																																				0.624	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		Missense_Mutation
ABCB1	5243	broad.mit.edu	37	7	87144576	87144576	+	Missense_Mutation	SNP	G	G	A	rs199943026		TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr7:87144576G>A	ENST00000265724.3	-	26	3670	c.3253C>T	c.(3253-3255)Cgg>Tgg	p.R1085W	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1021W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1085	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R1085W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCGTAGAACCGCTCCAGGAGC	0.527																																																1	Substitution - Missense(1)	ovary(1)	7											63.0	59.0	60.0					7																	87144576		2203	4300	6503	86982512	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3253C>T	7.37:g.87144576G>A	ENSP00000265724:p.Arg1085Trp		86982512	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154698	0.78114	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92397	-3.03;-3.03	6.06	2.89	0.33648	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97461	1.0034	10	0.87932	D	0	-17.7037	14.2901	0.66270	0.0:0.0:0.49:0.51	.	1021;1085	B5AK60;P08183	.;MDR1_HUMAN	W	866;1085;1021	ENSP00000265724:R1085W;ENSP00000444095:R1021W	ENSP00000265724:R1085W	R	-	1	2	ABCB1	86982512	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	1.287000	0.33284	0.841000	0.35020	-0.181000	0.13052	CGG		0.527	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		Missense_Mutation
CNTNAP2	26047	broad.mit.edu	37	7	147869553	147869553	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr7:147869553G>T	ENST00000361727.3	+	18	3509	c.2993G>T	c.(2992-2994)gGa>gTa	p.G998V	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.G57V	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	998	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.G998V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCATATGATGGAACATTTTGC	0.403										HNSCC(39;0.1)																																						1	Substitution - Missense(1)	ovary(1)	7											149.0	148.0	149.0					7																	147869553		2203	4300	6503	147500486	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2993G>T	7.37:g.147869553G>T	ENSP00000354778:p.Gly998Val		147500486	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903017	0.52227	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	D;D	0.87491	-2.26;-2.26	5.28	5.28	0.74379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95475	0.8530	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96636	0.9470	10	0.87932	D	0	.	17.4971	0.87720	0.0:0.0:1.0:0.0	.	998	Q9UHC6	CNTP2_HUMAN	V	998;57	ENSP00000354778:G998V;ENSP00000440732:G57V	ENSP00000354778:G998V	G	+	2	0	CNTNAP2	147500486	1.000000	0.71417	0.127000	0.21898	0.182000	0.23217	9.694000	0.98686	2.483000	0.83821	0.563000	0.77884	GGA		0.403	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			Missense_Mutation
CNBD1	168975	broad.mit.edu	37	8	87951898	87951898	+	Missense_Mutation	SNP	A	A	G	rs573773859		TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr8:87951898A>G	ENST00000518476.1	+	4	398	c.347A>G	c.(346-348)cAg>cGg	p.Q116R		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	116								p.Q116R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GTCCATGTTCAGAGAGCACAT	0.323																																																1	Substitution - Missense(1)	ovary(1)	8											86.0	83.0	84.0					8																	87951898		1826	4085	5911	88021014	SO:0001583	missense	168975			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.347A>G	8.37:g.87951898A>G	ENSP00000430073:p.Gln116Arg		88021014		Missense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	A	3.610	-0.079733	0.07141	.	.	ENSG00000176571	ENST00000518476	D	0.97114	-4.25	4.89	-1.9	0.07665	.	1.251270	0.05539	N	0.565448	D	0.88325	0.6406	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81389	-0.0955	10	0.13108	T	0.6	.	8.9499	0.35783	0.5653:0.0:0.4347:0.0	.	116	Q8NA66	CNBD1_HUMAN	R	116	ENSP00000430073:Q116R	ENSP00000430073:Q116R	Q	+	2	0	CNBD1	88021014	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.048000	0.14078	-0.393000	0.07739	0.467000	0.42956	CAG		0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		Missense_Mutation
FAM135B	51059	broad.mit.edu	37	8	139165263	139165263	+	Silent	SNP	A	A	G			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr8:139165263A>G	ENST00000395297.1	-	13	1625	c.1455T>C	c.(1453-1455)aaT>aaC	p.N485N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	485								p.N485N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGTGGCCACATTCTCACCTG	0.393										HNSCC(54;0.14)																																						2	Substitution - coding silent(2)	ovary(2)	8											130.0	123.0	125.0					8																	139165263		1934	4146	6080	139234445	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1455T>C	8.37:g.139165263A>G			139234445	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2	SNP	8	Broad																																																																																				0.393	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		Silent
TBC1D2	55357	broad.mit.edu	37	9	101006376	101006376	+	Missense_Mutation	SNP	G	G	C			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chr9:101006376G>C	ENST00000375064.1	-	3	585	c.547C>G	c.(547-549)Cct>Gct	p.P183A	TBC1D2_ENST00000375066.5_Missense_Mutation_p.P183A|TBC1D2_ENST00000342112.5_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	183					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.P183A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTTTCACAGGGCACAGGAAC	0.557																																																1	Substitution - Missense(1)	ovary(1)	9											38.0	34.0	35.0					9																	101006376		2203	4300	6503	100046197	SO:0001583	missense	55357			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.547C>G	9.37:g.101006376G>C	ENSP00000364205:p.Pro183Ala		100046197	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37		SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	6.649	0.488312	0.12641	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.06933	3.53;3.24	5.08	5.08	0.68730	.	0.268141	0.32106	N	0.006569	T	0.10766	0.0263	L	0.45698	1.435	0.80722	D	1	P;P	0.46859	0.817;0.885	B;P	0.48189	0.366;0.57	T	0.03863	-1.0997	10	0.02654	T	1	.	13.9895	0.64357	0.0:0.0:1.0:0.0	.	183;183	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	A	183	ENSP00000364205:P183A;ENSP00000364207:P183A	ENSP00000364205:P183A	P	-	1	0	TBC1D2	100046197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.064000	0.64338	2.362000	0.80069	0.655000	0.94253	CCT		0.557	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		Missense_Mutation
HTR2C	3358	broad.mit.edu	37	X	114141779	114141779	+	Missense_Mutation	SNP	C	C	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chrX:114141779C>T	ENST00000276198.1	+	6	1906	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.P393L	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	393					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.P393L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GAGAAAAAGCCTCCTGTCAGG	0.433																																																1	Substitution - Missense(1)	ovary(1)	X											85.0	85.0	85.0					X																	114141779		2203	4300	6503	114048035	SO:0001583	missense	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.1178C>T	X.37:g.114141779C>T	ENSP00000276198:p.Pro393Leu		114048035	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613951	0.28712	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.37235	1.21;1.21	4.75	2.88	0.33553	.	0.391707	0.25447	N	0.030605	T	0.25195	0.0612	L	0.46157	1.445	0.38761	D	0.954326	P	0.39920	0.695	B	0.36666	0.23	T	0.07578	-1.0765	10	0.34782	T	0.22	.	4.3217	0.11020	0.0:0.5998:0.1859:0.2143	.	393	P28335	5HT2C_HUMAN	L	393	ENSP00000276198:P393L;ENSP00000361019:P393L	ENSP00000276198:P393L	P	+	2	0	HTR2C	114048035	0.969000	0.33509	0.658000	0.29665	0.710000	0.40934	1.756000	0.38390	1.001000	0.39076	0.292000	0.19580	CCT		0.433	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		Missense_Mutation
DOCK11	139818	broad.mit.edu	37	X	117809930	117809930	+	Missense_Mutation	SNP	G	G	T			TCGA-13-2060-01	TCGA-13-2060-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-2060-01	TCGA-13-2060-10	g.chrX:117809930G>T	ENST00000276202.7	+	47	5294	c.5231G>T	c.(5230-5232)gGa>gTa	p.G1744V	DOCK11_ENST00000276204.6_Missense_Mutation_p.G1744V	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1744	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1744V(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ACTCTTCATGGAGCTTACACA	0.303																																																1	Substitution - Missense(1)	ovary(1)	X											37.0	36.0	36.0					X																	117809930		2202	4294	6496	117693958	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5231G>T	X.37:g.117809930G>T	ENSP00000276202:p.Gly1744Val		117693958	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163588	0.78226	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.16743	2.32;2.32	5.57	5.57	0.84162	.	0.054326	0.64402	D	0.000001	T	0.21962	0.0529	N	0.11064	0.09	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.59357	0.856;0.737	T	0.14254	-1.0479	10	0.49607	T	0.09	-19.1091	17.4003	0.87458	0.0:0.0:1.0:0.0	.	1744;1744	A6NIW2;Q5JSL3	.;DOC11_HUMAN	V	1744	ENSP00000276204:G1744V;ENSP00000276202:G1744V	ENSP00000276202:G1744V	G	+	2	0	DOCK11	117693958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.377000	0.73145	2.322000	0.78497	0.600000	0.82982	GGA		0.303	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		Missense_Mutation
