#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
UBXN11	91544	broad.mit.edu	37	1	26610659	26610659	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr1:26610659G>A	ENST00000374222.1	-	13	1515	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	UBXN11_ENST00000374217.2_Missense_Mutation_p.R318W|UBXN11_ENST00000374223.1_Missense_Mutation_p.R108W|UBXN11_ENST00000314675.7_Missense_Mutation_p.R231W|UBXN11_ENST00000374221.3_Missense_Mutation_p.R351W|UBXN11_ENST00000357089.4_Missense_Mutation_p.R318W			Q5T124	UBX11_HUMAN	UBX domain protein 11	351						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R351W(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ATGGGGCCCCGGATGTCAATC	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											114.0	119.0	118.0					1																	26610659		1886	4106	5992	26483246	SO:0001583	missense	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1051C>T	1.37:g.26610659G>A	ENSP00000363339:p.Arg351Trp		26483246	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029843	0.75504	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.33438	1.45;1.41;1.66;1.56;1.56;1.66	5.01	4.07	0.47477	.	0.172208	0.45867	D	0.000327	T	0.54743	0.1877	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.984;0.999;0.999;0.986	T	0.59726	-0.7400	10	0.87932	D	0	-15.2002	13.3696	0.60705	0.0:0.0:0.8409:0.1591	.	318;313;231;351	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	W	231;108;318;351;351;318	ENSP00000324721:R231W;ENSP00000363340:R108W;ENSP00000349601:R318W;ENSP00000363338:R351W;ENSP00000363339:R351W;ENSP00000363334:R318W	ENSP00000324721:R231W	R	-	1	2	UBXN11	26483246	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.907000	0.48743	1.053000	0.40415	0.491000	0.48974	CGG		0.592	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		Missense_Mutation
ITIH2	3698	broad.mit.edu	37	10	7747099	7747099	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr10:7747099T>A	ENST00000358415.4	+	2	279	c.113T>A	c.(112-114)cTg>cAg	p.L38Q	ITIH2_ENST00000379587.4_Missense_Mutation_p.L38Q|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	38					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTTGTGGAACTGGCCCCAGGC	0.358																																																0			10											79.0	84.0	82.0					10																	7747099		2203	4300	6503	7787105	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.113T>A	10.37:g.7747099T>A	ENSP00000351190:p.Leu38Gln		7787105	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	16.47	3.133084	0.56828	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.01933	4.55;4.59	5.78	3.42	0.39159	.	0.817013	0.10853	N	0.626984	T	0.07413	0.0187	M	0.68952	2.095	0.09310	N	0.999998	D	0.67145	0.996	P	0.57283	0.817	T	0.33266	-0.9875	10	0.72032	D	0.01	-2.0117	5.9877	0.19444	0.0:0.0841:0.1656:0.7503	.	38	P19823	ITIH2_HUMAN	Q	38	ENSP00000351190:L38Q;ENSP00000368906:L38Q	ENSP00000351190:L38Q	L	+	2	0	ITIH2	7787105	0.231000	0.23751	0.557000	0.28306	0.727000	0.41649	0.271000	0.18626	0.442000	0.26555	0.460000	0.39030	CTG		0.358	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		Missense_Mutation
SEC61A2	55176	broad.mit.edu	37	10	12199963	12199963	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr10:12199963C>G	ENST00000298428.9	+	9	923	c.834C>G	c.(832-834)agC>agG	p.S278R	SEC61A2_ENST00000379033.3_Missense_Mutation_p.S256R|SEC61A2_ENST00000304267.8_Missense_Mutation_p.S278R|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379020.4_Intron	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	278					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)	p.S278R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				AGTACAGCAGCTACCCCATCA	0.507																																																1	Substitution - Missense(1)	ovary(1)	10											206.0	154.0	172.0					10																	12199963		2203	4300	6503	12239969	SO:0001583	missense	55176			AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.834C>G	10.37:g.12199963C>G	ENSP00000298428:p.Ser278Arg		12239969	A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	CCDS7088.1	SNP	28	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.52|15.52	2.859159|2.859159	0.51376|0.51376	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000418772|ENST00000379033;ENST00000298428;ENST00000304267;ENST00000426560	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|SecY subunit domain (2);	.|0.134220	.|0.53938	.|D	.|0.000057	T|T	0.43144|0.43144	0.1234|0.1234	N|N	0.25890|0.25890	0.77|0.77	0.58432|0.58432	D|D	0.999994|0.999994	.|B;B;B	.|0.09022	.|0.0;0.002;0.001	.|B;B;B	.|0.11329	.|0.003;0.005;0.006	T|T	0.24977|0.24977	-1.0145|-1.0145	5|8	.|.	.|.	.|.	-5.2293|-5.2293	12.5567|12.5567	0.56257|0.56257	0.0:0.9244:0.0:0.0756|0.0:0.9244:0.0:0.0756	.|.	.|256;278;278	.|F8W773;Q9H9S3-2;Q9H9S3	.|.;.;S61A2_HUMAN	V|R	119|256;278;278;26	.|.	.|.	L|S	+|+	1|3	2|2	SEC61A2|SEC61A2	12239969|12239969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	0.922000|0.922000	0.28734|0.28734	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CTA|AGC		0.507	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		Missense_Mutation
PBLD	64081	broad.mit.edu	37	10	70051944	70051944	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr10:70051944G>T	ENST00000358769.2	-	5	537	c.335C>A	c.(334-336)gCc>gAc	p.A112D	PBLD_ENST00000432941.1_Missense_Mutation_p.A112D|PBLD_ENST00000336578.1_Missense_Mutation_p.A79D|PBLD_ENST00000309049.4_Missense_Mutation_p.A112D|PBLD_ENST00000495025.2_Missense_Mutation_p.A112D	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	112					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)	p.A112D(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGCTCGTCTGGCCCTTAGTTC	0.458																																																1	Substitution - Missense(1)	ovary(1)	10											103.0	93.0	96.0					10																	70051944		2203	4300	6503	69721950	SO:0001583	missense	64081			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.335C>A	10.37:g.70051944G>T	ENSP00000351619:p.Ala112Asp		69721950	A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	CCDS7277.2	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861351	0.71949	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941;ENST00000277795	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.46	5.46	0.80206	.	0.125201	0.53938	D	0.000051	T	0.70168	0.3193	H	0.94847	3.59	0.42876	D	0.994152	D;D;P	0.63046	0.992;0.989;0.933	P;D;D	0.69654	0.9;0.965;0.933	T	0.79227	-0.1890	10	0.87932	D	0	-16.8677	16.5776	0.84705	0.0:0.0:1.0:0.0	.	79;112;112	F8W7D0;C9JIM0;P30039	.;.;PBLD_HUMAN	D	79;112;112;112;79	ENSP00000338041:A79D;ENSP00000351619:A112D;ENSP00000308466:A112D;ENSP00000395534:A112D;ENSP00000277795:A79D	ENSP00000277795:A79D	A	-	2	0	PBLD	69721950	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	3.856000	0.55964	2.720000	0.93068	0.655000	0.94253	GCC		0.458	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		Missense_Mutation
PCDH8	5100	broad.mit.edu	37	13	53420356	53420356	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr13:53420356A>C	ENST00000377942.3	-	1	2419	c.2216T>G	c.(2215-2217)gTg>gGg	p.V739G	PCDH8_ENST00000338862.4_Missense_Mutation_p.V739G	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	739					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.V739G(3)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGACCCGGACACCCCGAGCCG	0.711																																					GBM(36;25 841 9273 49207)											3	Substitution - Missense(3)	urinary_tract(1)|ovary(1)|lung(1)	13											16.0	24.0	21.0					13																	53420356		2047	4047	6094	52318357	SO:0001583	missense	5100			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2216T>G	13.37:g.53420356A>C	ENSP00000367177:p.Val739Gly		52318357	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	CCDS9438.1	SNP	6	Broad	.	.	.	.	.	.	.	.	.	.	a	5.493	0.275978	0.10403	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.54071	0.61;0.59	4.45	1.57	0.23409	.	1.004480	0.08026	N	0.992689	T	0.24736	0.0600	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26121	-1.0112	10	0.07990	T	0.79	.	2.3572	0.04299	0.095:0.2604:0.3498:0.2949	.	739;739	O95206-2;O95206	.;PCDH8_HUMAN	G	739;739;265;582	ENSP00000367177:V739G;ENSP00000341350:V739G	ENSP00000341350:V739G	V	-	2	0	PCDH8	52318357	0.980000	0.34600	0.853000	0.33588	0.241000	0.25554	0.848000	0.27710	0.489000	0.27749	-0.145000	0.13849	GTG		0.711	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		Missense_Mutation
KCTD12	115207	broad.mit.edu	37	13	77459360	77459360	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr13:77459360C>A	ENST00000377474.2	-	1	1165	c.924G>T	c.(922-924)caG>caT	p.Q308H	KCTD12_ENST00000317765.2_Missense_Mutation_p.Q308H|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	308					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)	p.Q308H(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		TGTCCTCGCTCTGGTCGGTGC	0.642											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	13											69.0	56.0	60.0					13																	77459360		2203	4300	6503	76357361	SO:0001583	missense	115207			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"""predominantly fetal expressed T1 domain"""	610521	"""chromosome 13 open reading frame 2"", ""potassium channel tetramerisation domain containing 12"""	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.924G>T	13.37:g.77459360C>A	ENSP00000366694:p.Gln308His	1175	76357361		Missense_Mutation	SNP	ENST00000377474.2	37	CCDS9455.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627813	0.46944	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.44482	0.92;0.92	4.84	4.84	0.62591	.	0.055104	0.85682	D	0.000000	T	0.49115	0.1538	L	0.40543	1.245	0.43885	D	0.996506	D	0.63880	0.993	P	0.57324	0.818	T	0.29366	-1.0014	10	0.15952	T	0.53	.	17.9207	0.88965	0.0:1.0:0.0:0.0	.	308	Q96CX2	KCD12_HUMAN	H	308	ENSP00000366694:Q308H;ENSP00000317141:Q308H	ENSP00000317141:Q308H	Q	-	3	2	KCTD12	76357361	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.427000	0.34881	2.399000	0.81585	0.462000	0.41574	CAG		0.642	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444		Missense_Mutation
HSP90AA1	3320	broad.mit.edu	37	14	102551683	102551683	+	Missense_Mutation	SNP	C	C	G	rs140980766		TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr14:102551683C>G	ENST00000216281.8	-	4	820	c.615G>C	c.(613-615)gaG>gaC	p.E205D	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E26D|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E327D	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	205					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.E327D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCTTCACAATCTCCTTTATTC	0.378																																																1	Substitution - Missense(1)	ovary(1)	14											88.0	72.0	78.0					14																	102551683		2203	4300	6503	101621436	SO:0001583	missense	3320			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.615G>C	14.37:g.102551683C>G	ENSP00000216281:p.Glu205Asp		101621436	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	c	11.27	1.588131	0.28268	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629;ENST00000553585	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	4.29	2.42	0.29668	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.85682	U	0.000000	T	0.06872	0.0175	N	0.25957	0.775	0.58432	D	0.999993	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12156	0.007;0.001;0.001	T	0.30238	-0.9985	10	0.11794	T	0.64	-30.5266	10.0797	0.42381	0.0:0.7721:0.0:0.2279	.	26;327;205	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	D	205;327;26;136	ENSP00000216281:E205D;ENSP00000335153:E327D;ENSP00000396189:E26D;ENSP00000450712:E136D	ENSP00000216281:E205D	E	-	3	2	HSP90AA1	101621436	0.932000	0.31603	0.996000	0.52242	0.997000	0.91878	0.057000	0.14279	0.370000	0.24538	0.650000	0.86243	GAG		0.378	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		Missense_Mutation
TGM7	116179	broad.mit.edu	37	15	43571405	43571405	+	Silent	SNP	G	G	A			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr15:43571405G>A	ENST00000452443.2	-	11	1753	c.1749C>T	c.(1747-1749)cgC>cgT	p.R583R		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	583					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R583R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TGCCAGACACGCGGATGAGCT	0.517																																																1	Substitution - coding silent(1)	ovary(1)	15											97.0	82.0	87.0					15																	43571405		2202	4299	6501	41358697	SO:0001819	synonymous_variant	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1749C>T	15.37:g.43571405G>A			41358697		Silent	SNP	ENST00000452443.2	37	CCDS32213.1	SNP	38	Broad																																																																																				0.517	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		Silent
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000420246.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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"""	158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	17	GRCh37	CM034930	TP53	M							132.0	103.0	113.0					17																	7577568		2203	4300	6503	7518293	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.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr		7518293	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	17	Broad	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
SYNRG	11276	broad.mit.edu	37	17	35913748	35913748	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr17:35913748C>T	ENST00000339208.6	-	14	2217	c.2077G>A	c.(2077-2079)Gat>Aat	p.D693N	SYNRG_ENST00000591288.1_Missense_Mutation_p.D532N|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000394378.2_Missense_Mutation_p.D615N|SYNRG_ENST00000345615.4_Missense_Mutation_p.D615N|SYNRG_ENST00000585472.1_Missense_Mutation_p.D614N|SYNRG_ENST00000346661.4_Missense_Mutation_p.D693N|SYNRG_ENST00000502449.2_Missense_Mutation_p.D615N	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	693	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.D693N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCATAAAATCTGCAAAGTCA	0.423																																																1	Substitution - Missense(1)	ovary(1)	17											51.0	52.0	52.0					17																	35913748		2203	4300	6503	32987861	SO:0001583	missense	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2077G>A	17.37:g.35913748C>T	ENSP00000343610:p.Asp693Asn		32987861	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	CCDS11321.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649353	0.87958	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.65549	0.42;-0.16;-0.09	6.17	6.17	0.99709	.	0.043746	0.85682	D	0.000000	T	0.78285	0.4259	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998;0.998	T	0.77474	-0.2574	10	0.72032	D	0.01	-11.559	19.8676	0.96824	0.0:1.0:0.0:0.0	.	532;615;615;615;693;693	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	N	693;532;693;615;615	ENSP00000005279:D693N;ENSP00000424893:D615N;ENSP00000377903:D615N	ENSP00000343610:D532N	D	-	1	0	SYNRG	32987861	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.941000	0.99782	0.655000	0.94253	GAT		0.423	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		Missense_Mutation
PPAN	56342	broad.mit.edu	37	19	10218794	10218794	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr19:10218794C>T	ENST00000253107.7	+	5	603	c.497C>T	c.(496-498)tCc>tTc	p.S166F	PPAN_ENST00000393793.1_Missense_Mutation_p.S113F|PPAN_ENST00000556468.1_Missense_Mutation_p.S166F|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.S166F|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.S166F|SNORD105B_ENST00000458770.1_RNA|SNORD105_ENST00000386910.1_RNA	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	166	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTGTTCCCCTCCATCAACGTG	0.602																																																0			19											112.0	81.0	92.0					19																	10218794		2203	4300	6503	10079794	SO:0001583	missense	56342			BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.497C>T	19.37:g.10218794C>T	ENSP00000253107:p.Ser166Phe		10079794	C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	CCDS12225.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321990	0.81580	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.5	5.5	0.81552	Brix domain (3);	.	.	.	.	T	0.57755	0.2075	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	T	0.63528	-0.6617	9	0.72032	D	0.01	-45.1402	18.1466	0.89659	0.0:1.0:0.0:0.0	.	166;166;166	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	F	166;166;166;166;166;113;104	ENSP00000411918:S166F;ENSP00000377385:S166F;ENSP00000253107:S166F;ENSP00000450710:S166F;ENSP00000377382:S113F;ENSP00000410485:S104F	ENSP00000253107:S166F	S	+	2	0	PPAN;PPAN-P2RY11	10079794	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	7.231000	0.78106	2.586000	0.87340	0.561000	0.74099	TCC		0.602	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		Missense_Mutation
ZNF260	339324	broad.mit.edu	37	19	37005887	37005887	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr19:37005887C>A	ENST00000523638.1	-	3	1375	c.254G>T	c.(253-255)tGt>tTt	p.C85F	ZNF260_ENST00000593142.1_Missense_Mutation_p.C85F|ZNF260_ENST00000588993.1_Missense_Mutation_p.C85F|ZNF260_ENST00000592282.1_Missense_Mutation_p.C85F	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	85					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					ACATTTATTACATTTATATGC	0.378																																																0			19											118.0	110.0	113.0					19																	37005887		2203	4300	6503	41697727	SO:0001583	missense	339324			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.254G>T	19.37:g.37005887C>A	ENSP00000429803:p.Cys85Phe		41697727	Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	CCDS33003.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868523	0.32977	.	.	ENSG00000254004	ENST00000523638	D	0.85088	-1.94	4.47	3.42	0.39159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93271	0.7856	H	0.94964	3.605	0.47009	D	0.99928	D	0.65815	0.995	D	0.64595	0.927	D	0.94262	0.7503	9	0.87932	D	0	.	11.9124	0.52747	0.0:0.9119:0.0:0.088	.	85	Q3ZCT1	ZN260_HUMAN	F	85	ENSP00000429803:C85F	ENSP00000429803:C85F	C	-	2	0	ZNF260	41697727	0.989000	0.36119	0.338000	0.25549	0.060000	0.15804	2.944000	0.49034	1.217000	0.43442	-0.291000	0.09656	TGT		0.378	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		Missense_Mutation
ZNF548	147694	broad.mit.edu	37	19	57910960	57910960	+	Silent	SNP	C	C	T			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr19:57910960C>T	ENST00000366197.5	+	3	1555	c.1305C>T	c.(1303-1305)aaC>aaT	p.N435N	ZNF548_ENST00000336128.7_Silent_p.N447N|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N447N(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAACTCCAACCTCATTAAAC	0.473																																																1	Substitution - coding silent(1)	ovary(1)	19											56.0	59.0	58.0					19																	57910960		2196	4299	6495	62602772	SO:0001819	synonymous_variant	147694			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1305C>T	19.37:g.57910960C>T			62602772	Q96M05	Silent	SNP	ENST00000366197.5	37	CCDS46209.1	SNP	18	Broad																																																																																				0.473	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		Silent
EIF2AK3	9451	broad.mit.edu	37	2	88890407	88890407	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr2:88890407T>G	ENST00000303236.3	-	5	1232	c.931A>C	c.(931-933)Aag>Cag	p.K311Q	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.K160Q	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	311					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.K310Q(1)		ovary(3)	3						ACCGAAACCTTTATCACTATG	0.398																																					GBM(138;671 1851 16235 39058 45249)											1	Substitution - Missense(1)	ovary(1)	2											174.0	165.0	168.0					2																	88890407		2203	4300	6503	88671522	SO:0001583	missense	9451			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.931A>C	2.37:g.88890407T>G	ENSP00000307235:p.Lys311Gln		88671522	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	CCDS33241.1	SNP	64	Broad	.	.	.	.	.	.	.	.	.	.	T	28.8	4.949941	0.92660	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.26660	1.72;1.72;1.72	5.87	5.87	0.94306	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	M	0.78801	2.425	0.54753	D	0.999984	D	0.76494	0.999	D	0.81914	0.995	T	0.57780	-0.7752	10	0.72032	D	0.01	-31.397	16.2774	0.82651	0.0:0.0:0.0:1.0	.	311	Q9NZJ5	E2AK3_HUMAN	Q	160;311;160;190	ENSP00000408325:K160Q;ENSP00000307235:K311Q;ENSP00000412076:K190Q	ENSP00000307235:K311Q	K	-	1	0	EIF2AK3	88671522	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.259000	0.78381	2.247000	0.74100	0.482000	0.46254	AAG		0.398	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		Missense_Mutation
GTF3C3	9330	broad.mit.edu	37	2	197664243	197664243	+	Silent	SNP	G	G	C			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr2:197664243G>C	ENST00000263956.3	-	1	182	c.93C>G	c.(91-93)cgC>cgG	p.R31R	GTF3C3_ENST00000409364.3_Silent_p.R31R	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	31					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R31R(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTTTCTTCTCGCGGGTTTTTC	0.527																																																1	Substitution - coding silent(1)	ovary(1)	2											127.0	135.0	132.0					2																	197664243		2203	4300	6503	197372488	SO:0001819	synonymous_variant	9330			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.93C>G	2.37:g.197664243G>C			197372488	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	CCDS2316.1	SNP	38	Broad																																																																																				0.527	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			Silent
ACKR3	57007	broad.mit.edu	37	2	237489529	237489529	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr2:237489529G>T	ENST00000272928.3	+	2	731	c.421G>T	c.(421-423)Gac>Tac	p.D141Y		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	141					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										CATGAGCGTGGACCGCTACCT	0.572																																																0			2											257.0	211.0	226.0					2																	237489529		2203	4300	6503	237154268	SO:0001583	missense	57007			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.421G>T	2.37:g.237489529G>T	ENSP00000272928:p.Asp141Tyr		237154268	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	CCDS2516.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604294	0.87157	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	D;D	0.85861	-2.04;-2.04	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95345	0.8489	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96294	0.9216	10	0.87932	D	0	.	19.8471	0.96713	0.0:0.0:1.0:0.0	.	141	P25106	CXCR7_HUMAN	Y	141	ENSP00000405945:D141Y;ENSP00000272928:D141Y	ENSP00000272928:D141Y	D	+	1	0	CXCR7	237154268	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.611000	0.98342	2.688000	0.91661	0.655000	0.94253	GAC		0.572	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		Missense_Mutation
ANKMY1	51281	broad.mit.edu	37	2	241492375	241492376	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr2:241492375_241492376GG>TT	ENST00000272972.3	-	3	382_383	c.168_169CC>AA	c.(166-171)caCCga>caAAga	p.H56Q	ANKMY1_ENST00000405002.1_Missense_Mutation_p.H56Q|ANKMY1_ENST00000361678.4_Missense_Mutation_p.H145Q|ANKMY1_ENST00000406958.1_Missense_Mutation_p.H145Q|ANKMY1_ENST00000405523.3_Missense_Mutation_p.H145Q|ANKMY1_ENST00000536462.1_Missense_Mutation_p.H98Q|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000403283.1_Missense_Mutation_p.H224Q|ANKMY1_ENST00000401804.1_Missense_Mutation_p.H145Q|ANKMY1_ENST00000391987.1_Missense_Mutation_p.H56Q|ANKMY1_ENST00000373320.4_Missense_Mutation_p.H56Q|ANKMY1_ENST00000373318.2_Missense_Mutation_p.H145Q	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	56							metal ion binding (GO:0046872)	p.H56Q(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TAGCCTTCTCGGTGGCTGAGGT	0.564																																																1	Substitution - Missense(1)	ovary(1)	2																																								241141049	SO:0001583	missense	51281			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.168_169delinsTT	2.37:g.241492375_241492376delinsTT	ENSP00000272972:p.His56Gln		241141048	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	DNP	ENST00000272972.3	37	CCDS2536.1	DNP	39	Broad																																																																																				0.564	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		Missense_Mutation
CDC25B	994	broad.mit.edu	37	20	3781936	3781936	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr20:3781936G>T	ENST00000245960.5	+	8	1438	c.741G>T	c.(739-741)gaG>gaT	p.E247D	CDC25B_ENST00000379598.5_Missense_Mutation_p.E183D|CDC25B_ENST00000439880.2_Missense_Mutation_p.E233D|CDC25B_ENST00000340833.4_Missense_Mutation_p.E206D|CDC25B_ENST00000344256.6_Missense_Mutation_p.E183D|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	247					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.E268D(1)		NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AAGTGGAGGAGCTCAGCCCCC	0.552																																																1	Substitution - Missense(1)	ovary(1)	20											113.0	109.0	110.0					20																	3781936		2203	4300	6503	3729936	SO:0001583	missense	994				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.741G>T	20.37:g.3781936G>T	ENSP00000245960:p.Glu247Asp		3729936	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	CCDS13067.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	4.440	0.081389	0.08533	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	4.53	2.53	0.30540	.	0.738015	0.12994	N	0.422278	T	0.13157	0.0319	N	0.16098	0.37	0.29273	N	0.87052	B;B;B;B;B;P	0.41345	0.043;0.01;0.043;0.035;0.035;0.746	B;B;B;B;B;P	0.45167	0.044;0.026;0.044;0.026;0.026;0.472	T	0.12837	-1.0532	10	0.14252	T	0.57	0.8052	6.6888	0.23160	0.2387:0.0:0.7613:0.0	.	183;169;183;206;233;247	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	D	183;183;247;233;206	ENSP00000339125:E183D;ENSP00000368918:E183D;ENSP00000245960:E247D;ENSP00000405972:E233D;ENSP00000339170:E206D	ENSP00000245960:E247D	E	+	3	2	CDC25B	3729936	0.080000	0.21391	0.316000	0.25252	0.099000	0.18886	0.312000	0.19397	0.581000	0.29539	0.561000	0.74099	GAG		0.552	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		Missense_Mutation
CHD6	84181	broad.mit.edu	37	20	40120455	40120455	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr20:40120455C>T	ENST00000373233.3	-	11	1496	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	CHD6_ENST00000309279.7_Missense_Mutation_p.R440Q	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	440	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.R440Q(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGAAGCAGGCCGCTCCTAGGG	0.473																																																1	Substitution - Missense(1)	ovary(1)	20											83.0	85.0	85.0					20																	40120455		2203	4300	6503	39553869	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1319G>A	20.37:g.40120455C>T	ENSP00000362330:p.Arg440Gln		39553869	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	SNP	23	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.261974|5.261974	0.95368|0.95368	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000440697|ENST00000373233;ENST00000309279	.|D;D	.|0.95554	.|-2.26;-3.74	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|0.000000	.|0.50627	.|D	.|0.000102	D|D	0.97470|0.97470	0.9172|0.9172	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	D|D	0.98356|0.98356	1.0546|1.0546	5|10	.|0.87932	.|D	.|0	-13.4965|-13.4965	17.9265|17.9265	0.88985|0.88985	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|440	.|Q8TD26	.|CHD6_HUMAN	S|Q	143|440	.|ENSP00000362330:R440Q;ENSP00000308684:R440Q	.|ENSP00000308684:R440Q	G|R	-|-	1|2	0|0	CHD6|CHD6	39553869|39553869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	7.776000|7.776000	0.85560|0.85560	2.290000|2.290000	0.77057|0.77057	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.473	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			Missense_Mutation
PCDHA13	56136	broad.mit.edu	37	5	140263877	140263877	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr5:140263877C>T	ENST00000289272.2	+	1	2024	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A675V|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	675	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A675V(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGCCAAGCGCCACAGGCT	0.662																																					Melanoma(147;1739 1852 5500 27947 37288)											1	Substitution - Missense(1)	ovary(1)	5											54.0	51.0	52.0					5																	140263877		2202	4300	6502	140244061	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2024C>T	5.37:g.140263877C>T	ENSP00000289272:p.Ala675Val		140244061	O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874618	0.17395	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51071	0.72;0.78	4.08	1.24	0.21308	Cadherin (2);	.	.	.	.	T	0.42449	0.1203	M	0.71871	2.18	0.09310	N	1	B;B;B	0.27192	0.001;0.008;0.171	B;B;B	0.20577	0.001;0.002;0.03	T	0.27502	-1.0072	9	0.28530	T	0.3	.	8.3443	0.32263	0.1291:0.7112:0.0:0.1597	.	675;675;675	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	675	ENSP00000386821:A675V;ENSP00000289272:A675V	ENSP00000289272:A675V	A	+	2	0	PCDHA13	140244061	0.055000	0.20627	0.003000	0.11579	0.001000	0.01503	0.332000	0.19751	0.063000	0.16370	-0.808000	0.03180	GCG		0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		Missense_Mutation
FKBP9	11328	broad.mit.edu	37	7	32997313	32997313	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr7:32997313T>C	ENST00000242209.4	+	1	297	c.128T>C	c.(127-129)gTg>gCg	p.V43A	FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.V43A	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	43					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.V43A(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CGGCGCTTCGTGCCCGACGAG	0.726																																																1	Substitution - Missense(1)	ovary(1)	7											7.0	7.0	7.0					7																	32997313		2089	4119	6208	32963838	SO:0001583	missense	11328			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.128T>C	7.37:g.32997313T>C	ENSP00000242209:p.Val43Ala		32963838	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	CCDS5439.1	SNP	59	Broad	.	.	.	.	.	.	.	.	.	.	T	11.97	1.797639	0.31777	.	.	ENSG00000122642	ENST00000242209;ENST00000538336	T;T	0.58506	0.51;0.33	3.45	2.28	0.28536	.	0.492251	0.20667	U	0.087903	T	0.31575	0.0801	N	0.08118	0	0.80722	D	1	P;B;B	0.36315	0.547;0.157;0.129	B;B;B	0.35931	0.214;0.103;0.106	T	0.03524	-1.1028	10	0.26408	T	0.33	-16.763	7.1391	0.25546	0.0:0.106:0.0:0.894	.	43;43;43	B7Z6H3;O95302;B3KQQ0	.;FKBP9_HUMAN;.	A	43	ENSP00000242209:V43A;ENSP00000439250:V43A	ENSP00000242209:V43A	V	+	2	0	FKBP9	32963838	1.000000	0.71417	0.956000	0.39512	0.840000	0.47671	3.362000	0.52314	0.413000	0.25759	0.260000	0.18958	GTG		0.726	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		Missense_Mutation
KMT2C	58508	broad.mit.edu	37	7	151845895	151845895	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr7:151845895G>C	ENST00000262189.6	-	52	13335	c.13117C>G	c.(13117-13119)Cca>Gca	p.P4373A	KMT2C_ENST00000355193.2_Missense_Mutation_p.P4430A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4373					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCACAAGGTGGTTTAAATGTC	0.403																																																0			7											79.0	75.0	77.0					7																	151845895		2203	4300	6503	151476828	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13117C>G	7.37:g.151845895G>C	ENSP00000262189:p.Pro4373Ala		151476828	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	SNP	44	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.07|16.07	3.018796|3.018796	0.54576|0.54576	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.88046|.	-1.66;-1.66;-2.33|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.42964|.	U|.	0.000631|.	T|T	0.74390|0.74390	0.3710|0.3710	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D;D|.	0.63880|.	0.965;0.993;0.993|.	P;P;P|.	0.60789|.	0.777;0.879;0.879|.	T|T	0.71941|0.71941	-0.4440|-0.4440	10|5	0.31617|.	T|.	0.26|.	.|.	19.4744|19.4744	0.94982|0.94982	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4373;3491;4430|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	A|S	4373;4430;990|1933	ENSP00000262189:P4373A;ENSP00000347325:P4430A;ENSP00000410411:P990A|.	ENSP00000262189:P4373A|.	P|T	-|-	1|2	0|0	MLL3|MLL3	151476828|151476828	1.000000|1.000000	0.71417|0.71417	0.129000|0.129000	0.21949|0.21949	0.996000|0.996000	0.88848|0.88848	6.545000|6.545000	0.73883|0.73883	2.602000|2.602000	0.87976|0.87976	0.557000|0.557000	0.71058|0.71058	CCA|ACC		0.403	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			Missense_Mutation
CSMD3	114788	broad.mit.edu	37	8	113303838	113303838	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr8:113303838C>A	ENST00000297405.5	-	56	9119	c.8875G>T	c.(8875-8877)Gta>Tta	p.V2959L	CSMD3_ENST00000343508.3_Missense_Mutation_p.V2919L|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2790L|CSMD3_ENST00000352409.3_Missense_Mutation_p.V2889L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2959	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V2959L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCATAGAATACCACAGTGCCG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	ovary(1)	8											125.0	124.0	124.0					8																	113303838		2203	4298	6501	113373014	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8875G>T	8.37:g.113303838C>A	ENSP00000297405:p.Val2959Leu		113373014	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907621	0.92107	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.35	5.35	0.76521	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000012	D	0.83078	0.5176	M	0.82056	2.57	0.58432	D	0.999998	D;D;P	0.67145	0.994;0.996;0.843	D;D;P	0.87578	0.986;0.998;0.525	T	0.82339	-0.0506	10	0.40728	T	0.16	.	19.4311	0.94768	0.0:1.0:0.0:0.0	.	2790;2959;2919	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2919;2959;2229;2790;2889	ENSP00000345799:V2919L;ENSP00000297405:V2959L;ENSP00000341558:V2229L;ENSP00000412263:V2790L;ENSP00000343124:V2889L	ENSP00000297405:V2959L	V	-	1	0	CSMD3	113373014	1.000000	0.71417	0.996000	0.52242	0.874000	0.50279	7.750000	0.85110	2.656000	0.90262	0.591000	0.81541	GTA		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		Missense_Mutation
SLC45A4	57210	broad.mit.edu	37	8	142228370	142228370	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr8:142228370C>T	ENST00000024061.3	-	4	1523	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	SLC45A4_ENST00000519067.1_Missense_Mutation_p.D406N|SLC45A4_ENST00000433583.2_Missense_Mutation_p.D399N|SLC45A4_ENST00000517878.1_Missense_Mutation_p.D457N	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)		p.D406N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCGTACAGGTCGCTCATGCTG	0.677																																																1	Substitution - Missense(1)	ovary(1)	8											45.0	43.0	43.0					8																	142228370		2203	4299	6502	142297552	SO:0001583	missense	57210			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1216G>A	8.37:g.142228370C>T	ENSP00000024061:p.Asp406Asn		142297552	Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	CCDS34948.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	31	5.103313	0.94245	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.96244	0.8775	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.997	D	0.95502	0.8578	10	0.41790	T	0.15	-64.0122	19.116	0.93340	0.0:1.0:0.0:0.0	.	457;406;406	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	N	406;457;399;406	ENSP00000429059:D406N;ENSP00000428137:D457N;ENSP00000400799:D399N;ENSP00000024061:D406N	ENSP00000024061:D406N	D	-	1	0	SLC45A4	142297552	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.057000	0.76669	2.535000	0.85469	0.561000	0.74099	GAC		0.677	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		Missense_Mutation
PRUNE2	158471	broad.mit.edu	37	9	79320738	79320738	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chr9:79320738C>T	ENST00000376718.3	-	8	6575	c.6452G>A	c.(6451-6453)cGg>cAg	p.R2151Q	PRUNE2_ENST00000428286.1_Missense_Mutation_p.R1792Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2151					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.R2151Q(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACAAACTCCCGTCCAGGCTC	0.512																																																1	Substitution - Missense(1)	ovary(1)	9											121.0	112.0	115.0					9																	79320738		1568	3582	5150	78510558	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6452G>A	9.37:g.79320738C>T	ENSP00000365908:p.Arg2151Gln		78510558	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	c	1.175	-0.639944	0.03557	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.40476	1.04;1.03	5.77	-4.72	0.03269	.	0.478135	0.19721	N	0.107588	T	0.09335	0.0230	N	0.01219	-0.95	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	10	0.02654	T	1	0.0605	6.0832	0.19952	0.1952:0.36:0.0:0.4448	.	2151	Q8WUY3	PRUN2_HUMAN	Q	2151;1792;2150	ENSP00000365908:R2151Q;ENSP00000397425:R1792Q	ENSP00000365908:R2151Q	R	-	2	0	PRUNE2	78510558	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.366000	0.07563	-0.808000	0.04387	-2.625000	0.00155	CGG		0.512	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		Missense_Mutation
USP9X	8239	broad.mit.edu	37	X	41075555	41075555	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chrX:41075555A>G	ENST00000324545.8	+	35	6368	c.5735A>G	c.(5734-5736)gAt>gGt	p.D1912G	USP9X_ENST00000378308.2_Missense_Mutation_p.D1912G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1912	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.D1905G(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAAATGGATGATGACGAAGAA	0.393																																					Ovarian(172;1807 2695 35459 49286)											1	Substitution - Missense(1)	ovary(1)	X											123.0	120.0	121.0					X																	41075555		2200	4300	6500	40960499	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5735A>G	X.37:g.41075555A>G	ENSP00000316357:p.Asp1912Gly		40960499	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	SNP	12	Broad	.	.	.	.	.	.	.	.	.	.	A	16.32	3.088997	0.55968	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.06294	3.32;3.32	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	M	0.82517	2.595	0.80722	D	1	D;P	0.56287	0.975;0.927	P;P	0.52710	0.707;0.676	T	0.01053	-1.1467	10	0.62326	D	0.03	.	15.0965	0.72238	1.0:0.0:0.0:0.0	.	1912;1912	Q93008-1;Q93008	.;USP9X_HUMAN	G	1912	ENSP00000367558:D1912G;ENSP00000316357:D1912G	ENSP00000316357:D1912G	D	+	2	0	USP9X	40960499	1.000000	0.71417	0.978000	0.43139	0.980000	0.70556	8.952000	0.93031	1.948000	0.56530	0.441000	0.28932	GAT		0.393	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		Missense_Mutation
TEX13A	56157	broad.mit.edu	37	X	104464852	104464852	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1995-01	TCGA-61-1995-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-61-1995-01	TCGA-61-1995-11	g.chrX:104464852C>T	ENST00000413579.1	-	2	341	c.230G>A	c.(229-231)cGc>cAc	p.R77H	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R77H|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.R77H			Q9BXU3	TX13A_HUMAN	testis expressed 13A	77							zinc ion binding (GO:0008270)	p.R77H(1)		large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GTGGGCAAAGCGCACTCCCAA	0.622																																																1	Substitution - Missense(1)	ovary(1)	X											38.0	38.0	38.0					X																	104464852		2203	4299	6502	104351508	SO:0001583	missense	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.230G>A	X.37:g.104464852C>T	ENSP00000399753:p.Arg77His		104351508	B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	4.856	0.159141	0.09236	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.11	-0.234	0.13074	.	0.851069	0.09639	N	0.775231	T	0.26412	0.0645	.	.	.	0.09310	N	1	P;P	0.41008	0.735;0.735	B;B	0.37650	0.255;0.14	T	0.16928	-1.0386	8	0.87932	D	0	.	5.5446	0.17057	0.0:0.4276:0.0:0.5724	.	77;77	C9JWK0;Q9BXU3	.;TX13A_HUMAN	H	77	.	ENSP00000361656:R77H	R	-	2	0	TEX13A	104351508	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.287000	0.08388	-0.185000	0.10550	-0.332000	0.08345	CGC		0.622	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		Missense_Mutation
