#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
RERE	473	broad.mit.edu	37	1	8418949	8418949	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr1:8418949G>A	ENST00000337907.3	-	21	4280	c.3646C>T	c.(3646-3648)Cgc>Tgc	p.R1216C	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.R662C|RERE_ENST00000400908.2_Missense_Mutation_p.R1216C|RERE_ENST00000377464.1_Missense_Mutation_p.R948C	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1216					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R1216C(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCACTGAGGCGACCTTCATGC	0.642																																																1	Substitution - Missense(1)	ovary(1)	1											76.0	74.0	75.0					1																	8418949		2203	4300	6503	8341536	SO:0001583	missense	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3646C>T	1.37:g.8418949G>A	ENSP00000338629:p.Arg1216Cys		8341536	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504927	0.44558	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.50813	0.73;0.74;0.73	5.46	5.46	0.80206	.	.	.	.	.	T	0.68760	0.3036	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70421	-0.4876	9	0.72032	D	0.01	-24.1297	18.6671	0.91495	0.0:0.0:1.0:0.0	.	1216	Q9P2R6	RERE_HUMAN	C	1216;948;662;1216	ENSP00000338629:R1216C;ENSP00000366684:R948C;ENSP00000383700:R1216C	ENSP00000338629:R1216C	R	-	1	0	RERE	8341536	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	4.128000	0.57951	2.713000	0.92767	0.655000	0.94253	CGC		0.642	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			Missense_Mutation
MOV10	4343	broad.mit.edu	37	1	113217644	113217644	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr1:113217644C>G	ENST00000413052.2	+	2	500	c.110C>G	c.(109-111)aCc>aGc	p.T37S	MOV10_ENST00000357443.2_Missense_Mutation_p.T37S|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.T37S|MOV10_ENST00000544796.1_Missense_Mutation_p.T37S	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	37					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.T37S(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CGGCTGCGGACCATTTATAAC	0.667																																																1	Substitution - Missense(1)	ovary(1)	1											39.0	47.0	44.0					1																	113217644		2203	4300	6503	113019167	SO:0001583	missense	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.110C>G	1.37:g.113217644C>G	ENSP00000399797:p.Thr37Ser		113019167	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	CCDS853.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	9.829	1.188002	0.21954	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000544796;ENST00000285733;ENST00000357443;ENST00000369648	D;D;D	0.91237	-2.81;-2.81;-2.81	4.39	1.12	0.20585	.	0.431594	0.24846	N	0.035139	T	0.61862	0.2381	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.09377	0.004;0.001	T	0.53493	-0.8431	10	0.33141	T	0.24	-10.6263	0.819	0.01108	0.2487:0.3923:0.1557:0.2033	.	37;37	Q9H8T8;Q9HCE1	.;MOV10_HUMAN	S	37;37;37;37;37;10	ENSP00000399797:T37S;ENSP00000358659:T37S;ENSP00000350028:T37S	ENSP00000285733:T37S	T	+	2	0	MOV10	113019167	0.001000	0.12720	0.560000	0.28344	0.996000	0.88848	-0.621000	0.05559	0.547000	0.28938	0.561000	0.74099	ACC		0.667	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		Missense_Mutation
PCDH15	65217	broad.mit.edu	37	10	56077158	56077158	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr10:56077158G>T	ENST00000320301.6	-	8	1143	c.749C>A	c.(748-750)aCt>aAt	p.T250N	PCDH15_ENST00000395430.1_Missense_Mutation_p.T250N|PCDH15_ENST00000395432.2_Missense_Mutation_p.T213N|PCDH15_ENST00000395433.1_Missense_Mutation_p.T228N|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.T250N|PCDH15_ENST00000373957.3_Missense_Mutation_p.T228N|PCDH15_ENST00000361849.3_Missense_Mutation_p.T250N|PCDH15_ENST00000395442.1_Missense_Mutation_p.T250N|PCDH15_ENST00000395440.1_Missense_Mutation_p.T250N|PCDH15_ENST00000414778.1_Missense_Mutation_p.T255N|PCDH15_ENST00000437009.1_Missense_Mutation_p.T250N|PCDH15_ENST00000373955.1_Missense_Mutation_p.T250N|PCDH15_ENST00000395445.1_Missense_Mutation_p.T250N|PCDH15_ENST00000395438.1_Missense_Mutation_p.T250N|PCDH15_ENST00000373965.2_Missense_Mutation_p.T250N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	250	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.T250N(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACTGTGAGAGTGGTGGTGGT	0.463										HNSCC(58;0.16)																																						1	Substitution - Missense(1)	ovary(1)	10											186.0	140.0	155.0					10																	56077158		2203	4300	6503	55747164	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.749C>A	10.37:g.56077158G>T	ENSP00000322604:p.Thr250Asn		55747164	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363179	0.61513	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63580	0.53;0.53;0.53;0.53;0.53;0.53;0.53;-0.05;0.53;0.53;0.53;0.53;0.53;0.53;0.53	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76779	0.4035	L	0.60957	1.885	0.52099	D	0.999944	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.998;0.999;0.999;0.999;0.999;0.998;0.999;0.999;1.0;1.0;0.999;0.999	T	0.79463	-0.1793	9	0.72032	D	0.01	.	17.7447	0.88416	0.0:0.0:1.0:0.0	.	228;250;250;255;250;213;250;250;250;250;250;255;250;228;250	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	250;255;250;250;250;250;250;250;213;250;228;228;250;250;255;250;250	ENSP00000363076:T250N;ENSP00000410304:T255N;ENSP00000378826:T250N;ENSP00000378832:T250N;ENSP00000378833:T250N;ENSP00000378829:T250N;ENSP00000378827:T250N;ENSP00000378820:T213N;ENSP00000354950:T250N;ENSP00000378821:T228N;ENSP00000363068:T228N;ENSP00000322604:T250N;ENSP00000378818:T250N;ENSP00000412628:T250N;ENSP00000363066:T250N	ENSP00000322604:T250N	T	-	2	0	PCDH15	55747164	1.000000	0.71417	0.975000	0.42487	0.648000	0.38561	9.667000	0.98616	2.346000	0.79739	0.557000	0.71058	ACT		0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		Missense_Mutation
MYOF	26509	broad.mit.edu	37	10	95116557	95116557	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr10:95116557T>C	ENST00000359263.4	-	30	3168	c.3169A>G	c.(3169-3171)Att>Gtt	p.I1057V	MYOF_ENST00000358334.5_Missense_Mutation_p.I1044V|MYOF_ENST00000371502.4_Missense_Mutation_p.I1057V|MYOF_ENST00000371501.4_Missense_Mutation_p.I1057V	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1057					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.I1057V(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCCAGCCAATTAGAGAAGCA	0.448																																																1	Substitution - Missense(1)	ovary(1)	10											101.0	93.0	96.0					10																	95116557		1934	4126	6060	95106547	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3169A>G	10.37:g.95116557T>C	ENSP00000352208:p.Ile1057Val		95106547	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	SNP	52	Broad	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947093	0.73672	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.74	5.74	0.90152	Ferlin/Peroxisome membrane (1);	0.049591	0.85682	N	0.000000	D	0.88377	0.6420	M	0.68317	2.08	0.58432	D	0.999999	P;D	0.58268	0.746;0.982	P;P	0.57283	0.661;0.817	D	0.89164	0.3532	10	0.59425	D	0.04	-19.427	16.0347	0.80617	0.0:0.0:0.0:1.0	.	1044;1057	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	V	1044;1057;1057;1057	ENSP00000351094:I1044V;ENSP00000352208:I1057V;ENSP00000360556:I1057V;ENSP00000360557:I1057V	ENSP00000351094:I1044V	I	-	1	0	MYOF	95106547	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.135000	0.71696	2.194000	0.70268	0.459000	0.35465	ATT		0.448	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		Missense_Mutation
CD163	9332	broad.mit.edu	37	12	7635317	7635317	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr12:7635317G>C	ENST00000359156.4	-	14	3371	c.3169C>G	c.(3169-3171)Ctt>Gtt	p.L1057V	CD163_ENST00000541972.1_Missense_Mutation_p.L1045V|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Missense_Mutation_p.L1090V|CD163_ENST00000432237.2_Missense_Mutation_p.L1057V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1057					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.L1057V(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ACAACCCCAAGGATCCCGACT	0.423																																																1	Substitution - Missense(1)	ovary(1)	12											121.0	125.0	124.0					12																	7635317		2203	4300	6503	7526584	SO:0001583	missense	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3169C>G	12.37:g.7635317G>C	ENSP00000352071:p.Leu1057Val		7526584	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	8.920	0.960900	0.18583	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01369	4.97;5.0;5.03;5.01	3.68	-2.86	0.05717	.	1.141700	0.06764	N	0.782290	T	0.00875	0.0029	N	0.14661	0.345	0.09310	N	1	P;B;B	0.35433	0.501;0.001;0.293	B;B;B	0.25140	0.058;0.003;0.039	T	0.46624	-0.9178	10	0.48119	T	0.1	.	4.4735	0.11724	0.3944:0.3069:0.2987:0.0	.	1090;1057;1057	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	V	1057;1045;1090;1057	ENSP00000352071:L1057V;ENSP00000444071:L1045V;ENSP00000379863:L1090V;ENSP00000403885:L1057V	ENSP00000352071:L1057V	L	-	1	0	CD163	7526584	0.001000	0.12720	0.018000	0.16275	0.051000	0.14879	-0.383000	0.07398	-0.648000	0.05437	0.462000	0.41574	CTT		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		Missense_Mutation
A2ML1	144568	broad.mit.edu	37	12	9016477	9016477	+	Missense_Mutation	SNP	C	C	G			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr12:9016477C>G	ENST00000299698.7	+	29	3770	c.3590C>G	c.(3589-3591)aCa>aGa	p.T1197R	A2ML1_ENST00000539547.1_Missense_Mutation_p.T706R	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTGGAACTCACAGCATATGCA	0.507																																																0			12											79.0	78.0	78.0					12																	9016477		1968	4166	6134	8907744	SO:0001583	missense	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3590C>G	12.37:g.9016477C>G	ENSP00000299698:p.Thr1197Arg		8907744		Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101527	0.76983	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.66638	-0.22;-0.22;-0.22	4.39	4.39	0.52855	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.209992	0.31290	N	0.007920	D	0.86264	0.5891	M	0.94142	3.5	0.35129	D	0.767762	D	0.76494	0.999	D	0.79108	0.992	D	0.92982	0.6407	10	0.87932	D	0	.	16.03	0.80572	0.0:1.0:0.0:0.0	.	1197	A8K2U0	A2ML1_HUMAN	R	1197;1197;747;706	ENSP00000299698:T1197R;ENSP00000443174:T747R;ENSP00000438292:T706R	ENSP00000299698:T1197R	T	+	2	0	A2ML1	8907744	0.951000	0.32395	0.064000	0.19789	0.704000	0.40688	2.063000	0.41423	2.421000	0.82119	0.591000	0.81541	ACA		0.507	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		Missense_Mutation
KRT72	140807	broad.mit.edu	37	12	52981593	52981593	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr12:52981593C>T	ENST00000537672.2	-	7	1142	c.1132G>A	c.(1132-1134)Ggg>Agg	p.G378R	KRT72_ENST00000398066.3_Missense_Mutation_p.G190R|KRT72_ENST00000354310.4_Missense_Mutation_p.G336R|KRT72_ENST00000293745.2_Missense_Mutation_p.G378R	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	378	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G378R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCGCAGTCCCCCCGCTGTTCA	0.622																																																1	Substitution - Missense(1)	ovary(1)	12											50.0	48.0	48.0					12																	52981593		2203	4300	6503	51267860	SO:0001583	missense	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1132G>A	12.37:g.52981593C>T	ENSP00000441160:p.Gly378Arg		51267860	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569213	0.65765	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.92	4.92	0.64577	Filament (1);	0.000000	0.52532	D	0.000065	D	0.95306	0.8477	M	0.87900	2.915	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95726	0.8770	10	0.72032	D	0.01	.	19.0272	0.92937	0.0:1.0:0.0:0.0	.	336;378	B4DEI8;Q14CN4	.;K2C72_HUMAN	R	378;378;336;190	ENSP00000441160:G378R;ENSP00000293745:G378R;ENSP00000346269:G336R;ENSP00000446151:G190R	ENSP00000293745:G378R	G	-	1	0	KRT72	51267860	1.000000	0.71417	0.677000	0.29947	0.004000	0.04260	5.999000	0.70665	2.652000	0.90054	0.650000	0.86243	GGG		0.622	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		Missense_Mutation
SHC4	399694	broad.mit.edu	37	15	49135648	49135648	+	Nonsense_Mutation	SNP	G	G	A			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr15:49135648G>A	ENST00000332408.4	-	10	1869	c.1441C>T	c.(1441-1443)Caa>Taa	p.Q481*	SHC4_ENST00000537958.1_Nonsense_Mutation_p.Q195*|SHC4_ENST00000396535.3_Nonsense_Mutation_p.Q238*	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	481	CH1.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.Q481*(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GCTGACCTTTGATTTCCAGCA	0.468																																																1	Substitution - Nonsense(1)	ovary(1)	15											155.0	148.0	150.0					15																	49135648		2197	4295	6492	46922940	SO:0001587	stop_gained	399694			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1441C>T	15.37:g.49135648G>A	ENSP00000329668:p.Gln481*		46922940	Q6UXQ3|Q8IYW3	Nonsense_Mutation	SNP	ENST00000332408.4	37	CCDS10130.1	SNP	45	Broad	.	.	.	.	.	.	.	.	.	.	G	41	8.754534	0.98941	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	.	.	.	5.0	5.0	0.66597	.	0.438805	0.20829	N	0.084939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-16.7137	13.3445	0.60564	0.0:0.0:0.8433:0.1567	.	.	.	.	X	481;238;195	.	ENSP00000329668:Q481X	Q	-	1	0	SHC4	46922940	0.014000	0.17966	0.015000	0.15790	0.723000	0.41478	1.475000	0.35409	2.591000	0.87537	0.650000	0.86243	CAA		0.468	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		Nonsense_Mutation
TLN2	83660	broad.mit.edu	37	15	63112743	63112743	+	Silent	SNP	G	G	A			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr15:63112743G>A	ENST00000561311.1	+	53	7166	c.6936G>A	c.(6934-6936)ggG>ggA	p.G2312G	TLN2_ENST00000306829.6_Silent_p.G2312G			Q9Y4G6	TLN2_HUMAN	talin 2	2312	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G2312G(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGTTACTGGGGGCTGCAGCAT	0.463																																																1	Substitution - coding silent(1)	ovary(1)	15											84.0	81.0	82.0					15																	63112743		2203	4300	6503	60899796	SO:0001819	synonymous_variant	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6936G>A	15.37:g.63112743G>A			60899796	A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1	SNP	43	Broad																																																																																				0.463	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			Silent
CNOT1	23019	broad.mit.edu	37	16	58589407	58589407	+	Missense_Mutation	SNP	G	G	T			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr16:58589407G>T	ENST00000317147.5	-	21	2971	c.2639C>A	c.(2638-2640)aCt>aAt	p.T880N	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.T875N|CNOT1_ENST00000441024.2_Missense_Mutation_p.T880N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	880	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.T880N(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCTCTTTATAGTAGAGTCTTT	0.333																																																1	Substitution - Missense(1)	ovary(1)	16											80.0	85.0	84.0					16																	58589407		2198	4300	6498	57146908	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2639C>A	16.37:g.58589407G>T	ENSP00000320949:p.Thr880Asn		57146908	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	5.153	0.213885	0.09810	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.42900	0.97;0.96	5.76	4.71	0.59529	.	0.084376	0.85682	D	0.000000	T	0.22399	0.0540	N	0.14661	0.345	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.10450	0.0;0.001;0.005	T	0.10042	-1.0647	10	0.15066	T	0.55	.	8.4199	0.32694	0.0:0.1153:0.5591:0.3256	.	880;880;875	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	N	880;309;875;880	ENSP00000320949:T880N;ENSP00000413113:T880N	ENSP00000320949:T880N	T	-	2	0	CNOT1	57146908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.070000	0.57548	2.880000	0.98712	0.650000	0.86243	ACT		0.333	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_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
ZNF521	25925	broad.mit.edu	37	18	22805634	22805634	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr18:22805634T>C	ENST00000361524.3	-	4	2396	c.2248A>G	c.(2248-2250)Aaa>Gaa	p.K750E	ZNF521_ENST00000584787.1_Missense_Mutation_p.K530E|ZNF521_ENST00000538137.2_Missense_Mutation_p.K750E|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	750					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.K750E(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTATAGACTTTCTTTTCGTTA	0.478			T	PAX5	ALL																																		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - Missense(1)	ovary(1)	18											72.0	69.0	70.0					18																	22805634		2203	4300	6503	21059632	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2248A>G	18.37:g.22805634T>C	ENSP00000354794:p.Lys750Glu		21059632	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	SNP	62	Broad	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438135	0.25900	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T;T	0.43294	2.8;0.95;2.82	6.17	6.17	0.99709	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	M	0.84683	2.71	0.49299	D	0.999777	D	0.71674	0.998	D	0.67548	0.952	T	0.73427	-0.3986	10	0.72032	D	0.01	-25.0869	16.8222	0.85835	0.0:0.0:0.0:1.0	.	750	Q96K83	ZN521_HUMAN	E	750;784;750	ENSP00000354794:K750E;ENSP00000440768:K784E;ENSP00000382352:K750E	ENSP00000354794:K750E	K	-	1	0	ZNF521	21059632	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	AAA		0.478	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		Missense_Mutation
CDH2	1000	broad.mit.edu	37	18	25565525	25565525	+	Missense_Mutation	SNP	T	T	C			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr18:25565525T>C	ENST00000269141.3	-	12	2365	c.1942A>G	c.(1942-1944)Att>Gtt	p.I648V	CDH2_ENST00000399380.3_Missense_Mutation_p.I617V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	648	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.I648V(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTCTCTTAATAGTCACTGGA	0.358																																																1	Substitution - Missense(1)	ovary(1)	18											69.0	68.0	68.0					18																	25565525		2203	4300	6503	23819523	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1942A>G	18.37:g.25565525T>C	ENSP00000269141:p.Ile648Val		23819523	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	SNP	49	Broad	.	.	.	.	.	.	.	.	.	.	T	2.618	-0.289269	0.05605	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.60424	0.19;0.19	5.96	4.76	0.60689	Cadherin (3);Cadherin-like (1);	0.110120	0.64402	D	0.000005	T	0.34542	0.0901	N	0.16307	0.4	0.50813	D	0.999892	B;B	0.02656	0.0;0.0	B;B	0.14023	0.01;0.005	T	0.10989	-1.0606	10	0.07813	T	0.8	.	7.4826	0.27415	0.1282:0.0684:0.0:0.8034	.	617;648	A8MWK3;P19022	.;CADH2_HUMAN	V	648;617	ENSP00000269141:I648V;ENSP00000382312:I617V	ENSP00000269141:I648V	I	-	1	0	CDH2	23819523	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	2.588000	0.46137	1.024000	0.39682	0.477000	0.44152	ATT		0.358	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		Missense_Mutation
FSHR	2492	broad.mit.edu	37	2	49190914	49190914	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr2:49190914T>A	ENST00000406846.2	-	10	1165	c.1046A>T	c.(1045-1047)aAg>aTg	p.K349M	FSHR_ENST00000304421.4_Missense_Mutation_p.K323M|FSHR_ENST00000346173.3_Missense_Mutation_p.K287M|FSHR_ENST00000541117.1_Missense_Mutation_p.K85M	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	349					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.K349M(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TGCATCTGGCTTAGGGGAGCA	0.458									Gonadal Dysgenesis, 46 XX																																							1	Substitution - Missense(1)	ovary(1)	2											274.0	229.0	244.0					2																	49190914		2203	4300	6503	49044418	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1046A>T	2.37:g.49190914T>A	ENSP00000384708:p.Lys349Met		49044418	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	SNP	56	Broad	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521958	0.44866	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.13	5.13	0.70059	Gonadotropin hormone receptor, transmembrane domain (1);	0.224629	0.45361	D	0.000362	T	0.74253	0.3692	L	0.57536	1.79	0.37736	D	0.925438	D;D;D	0.62365	0.984;0.991;0.984	P;P;P	0.62298	0.843;0.9;0.843	T	0.76889	-0.2792	9	.	.	.	.	10.4335	0.44421	0.0:0.0:0.1634:0.8366	.	323;287;349	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	M	349;287;323;85	ENSP00000384708:K349M;ENSP00000333908:K287M;ENSP00000306780:K323M;ENSP00000444172:K85M	.	K	-	2	0	FSHR	49044418	0.607000	0.26958	0.999000	0.59377	0.939000	0.58152	1.080000	0.30779	2.159000	0.67721	0.459000	0.35465	AAG		0.458	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			Missense_Mutation
RETSAT	54884	broad.mit.edu	37	2	85578014	85578014	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr2:85578014A>T	ENST00000295802.4	-	3	598	c.486T>A	c.(484-486)aaT>aaA	p.N162K	RETSAT_ENST00000263854.6_Missense_Mutation_p.N162K|RETSAT_ENST00000457495.2_Missense_Mutation_p.N101K	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	162					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.N162K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CCTTTCGGCCATTGGGCCCTT	0.507																																																1	Substitution - Missense(1)	ovary(1)	2											92.0	85.0	87.0					2																	85578014		2203	4300	6503	85431525	SO:0001583	missense	54884			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.486T>A	2.37:g.85578014A>T	ENSP00000295802:p.Asn162Lys		85431525	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	CCDS1972.1	SNP	8	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.778|8.778	0.927463|0.927463	0.18056|0.18056	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000409984|ENST00000295802;ENST00000263854;ENST00000457495	.|T;T;T	.|0.58652	.|0.32;0.32;0.32	5.92|5.92	2.32|2.32	0.28847|0.28847	.|.	.|0.873715	.|0.10469	.|N	.|0.671008	T|T	0.45716|0.45716	0.1356|0.1356	L|L	0.45581|0.45581	1.43|1.43	0.19775|0.19775	N|N	0.999952|0.999952	.|B;B	.|0.15930	.|0.008;0.015	.|B;B	.|0.13407	.|0.007;0.009	T|T	0.35699|0.35699	-0.9778|-0.9778	5|10	.|0.35671	.|T	.|0.21	0.0183|0.0183	3.6884|3.6884	0.08336|0.08336	0.6061:0.0:0.2426:0.1513|0.6061:0.0:0.2426:0.1513	.|.	.|101;162	.|G5E9N3;Q6NUM9	.|.;RETST_HUMAN	K|K	101|162;162;101	.|ENSP00000295802:N162K;ENSP00000263854:N162K;ENSP00000405040:N101K	.|ENSP00000263854:N162K	M|N	-|-	2|3	0|2	RETSAT|RETSAT	85431525|85431525	0.000000|0.000000	0.05858|0.05858	0.553000|0.553000	0.28255|0.28255	0.643000|0.643000	0.38383|0.38383	-0.559000|-0.559000	0.05971|0.05971	0.500000|0.500000	0.27991|0.27991	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.507	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		Missense_Mutation
ATIC	471	broad.mit.edu	37	2	216177302	216177302	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr2:216177302C>T	ENST00000236959.9	+	2	427	c.101C>T	c.(100-102)tCc>tTc	p.S34F	ATIC_ENST00000435675.1_Missense_Mutation_p.S33F|ATIC_ENST00000540518.1_5'UTR	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	34					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)	p.S34F(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CTGGTCGCTTCCGGAGGGACT	0.468			T	ALK	ALCL																																		Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	1	Substitution - Missense(1)	ovary(1)	2											90.0	89.0	89.0					2																	216177302		2203	4300	6503	215885547	SO:0001583	missense	471				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.101C>T	2.37:g.216177302C>T	ENSP00000236959:p.Ser34Phe		215885547	A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	CCDS2398.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	32	5.140011	0.94560	.	.	ENSG00000138363	ENST00000236959;ENST00000435675	D;D	0.83419	-1.72;-1.72	5.41	5.41	0.78517	Methylglyoxal synthase-like domain (4);	0.000000	0.85682	D	0.000000	D	0.92766	0.7700	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93830	0.7127	10	0.87932	D	0	-14.0384	18.8107	0.92057	0.0:1.0:0.0:0.0	.	33;34	E9PBU3;P31939	.;PUR9_HUMAN	F	34;33	ENSP00000236959:S34F;ENSP00000415935:S33F	ENSP00000236959:S34F	S	+	2	0	ATIC	215885547	1.000000	0.71417	0.994000	0.49952	0.943000	0.58893	6.430000	0.73391	2.544000	0.85801	0.655000	0.94253	TCC		0.468	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		Missense_Mutation
TCF20	6942	broad.mit.edu	37	22	42607672	42607672	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr22:42607672G>A	ENST00000359486.3	-	1	3776	c.3640C>T	c.(3640-3642)Ccg>Tcg	p.P1214S	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.P1214S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.P1214S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCATGGGGCGGCCCATACCTT	0.507																																																1	Substitution - Missense(1)	ovary(1)	22											95.0	88.0	90.0					22																	42607672		2203	4300	6503	40937616	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3640C>T	22.37:g.42607672G>A	ENSP00000352463:p.Pro1214Ser		40937616	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721737	0.30503	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.57436	0.4;0.4	5.34	5.34	0.76211	.	0.083998	0.51477	D	0.000088	T	0.29620	0.0739	N	0.12182	0.205	0.80722	D	1	B;B	0.32573	0.376;0.259	B;B	0.29598	0.104;0.048	T	0.14144	-1.0483	10	0.16896	T	0.51	-11.0684	9.8672	0.41152	0.0899:0.0:0.9101:0.0	.	1214;1214	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	S	1214	ENSP00000352463:P1214S;ENSP00000335561:P1214S	ENSP00000335561:P1214S	P	-	1	0	TCF20	40937616	1.000000	0.71417	0.585000	0.28666	0.828000	0.46876	3.857000	0.55972	2.776000	0.95493	0.650000	0.86243	CCG		0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		Missense_Mutation
ACVR2B	93	broad.mit.edu	37	3	38518817	38518817	+	Missense_Mutation	SNP	A	A	T			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr3:38518817A>T	ENST00000352511.4	+	2	564	c.92A>T	c.(91-93)tAc>tTc	p.Y31F		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	31					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.Y31F(1)		lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GAGTGCATCTACTACAACGCC	0.647																																																1	Substitution - Missense(1)	ovary(1)	3											64.0	62.0	62.0					3																	38518817		2203	4300	6503	38493821	SO:0001583	missense	93			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.92A>T	3.37:g.38518817A>T	ENSP00000340361:p.Tyr31Phe		38493821	Q4VAV0	Missense_Mutation	SNP	ENST00000352511.4	37	CCDS2679.1	SNP	14	Broad	.	.	.	.	.	.	.	.	.	.	A	14.38	2.517756	0.44763	.	.	ENSG00000114739	ENST00000352511	D	0.98234	-4.81	4.47	4.47	0.54385	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.85682	D	0.000000	D	0.93249	0.7849	N	0.11756	0.17	0.80722	D	1	B	0.12013	0.005	B	0.20577	0.03	D	0.89516	0.3775	10	0.02654	T	1	.	13.9296	0.63986	1.0:0.0:0.0:0.0	.	31	Q13705	AVR2B_HUMAN	F	31	ENSP00000340361:Y31F	ENSP00000340361:Y31F	Y	+	2	0	ACVR2B	38493821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.124000	0.77185	1.879000	0.54435	0.533000	0.62120	TAC		0.647	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		Missense_Mutation
KIAA1524	57650	broad.mit.edu	37	3	108271110	108271110	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr3:108271110C>T	ENST00000295746.8	-	20	2594	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E681K	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	840					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E840K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTATCTGTTCTGTTCTGCTT	0.303																																																1	Substitution - Missense(1)	ovary(1)	3											191.0	180.0	184.0					3																	108271110		2200	4298	6498	109753800	SO:0001583	missense	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2518G>A	3.37:g.108271110C>T	ENSP00000295746:p.Glu840Lys		109753800	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	CCDS33812.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155406	0.78114	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.29917	3.63;1.55	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	M	0.66939	2.045	0.54753	D	0.999981	P	0.51653	0.947	P	0.49477	0.612	T	0.47071	-0.9145	10	0.72032	D	0.01	-1.9254	15.1974	0.73104	0.0:0.859:0.141:0.0	.	840	Q8TCG1	CIP2A_HUMAN	K	681;840	ENSP00000419487:E681K;ENSP00000295746:E840K	ENSP00000295746:E840K	E	-	1	0	KIAA1524	109753800	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.005000	0.63972	2.238000	0.73509	0.557000	0.71058	GAA		0.303	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		Missense_Mutation
STXBP5L	9515	broad.mit.edu	37	3	120976115	120976115	+	Missense_Mutation	SNP	T	T	A			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr3:120976115T>A	ENST00000273666.6	+	17	2038	c.1767T>A	c.(1765-1767)agT>agA	p.S589R	STXBP5L_ENST00000471454.1_Missense_Mutation_p.S589R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S589R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S589R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S589R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	589					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S589R(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTTCAAGGAGTCTTTCTGGGA	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											112.0	108.0	110.0					3																	120976115		1851	4086	5937	122458805	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1767T>A	3.37:g.120976115T>A	ENSP00000273666:p.Ser589Arg		122458805	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	SNP	58	Broad	.	.	.	.	.	.	.	.	.	.	T	9.386	1.074195	0.20227	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.36157	1.95;1.95;1.74;1.27;1.76;1.96	5.49	5.49	0.81192	WD40 repeat-like-containing domain (1);	0.251101	0.47852	D	0.000216	T	0.24547	0.0595	L	0.43152	1.355	0.42428	D	0.992664	P;P	0.38922	0.454;0.651	B;B	0.32805	0.115;0.153	T	0.06716	-1.0811	10	0.18710	T	0.47	-0.0099	8.0933	0.30813	0.0:0.1562:0.0:0.8438	.	589;589	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	R	589	ENSP00000273666:S589R;ENSP00000420019:S589R;ENSP00000419627:S589R;ENSP00000420287:S589R;ENSP00000420666:S589R;ENSP00000420167:S589R	ENSP00000273666:S589R	S	+	3	2	STXBP5L	122458805	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.445000	0.35079	2.205000	0.71048	0.477000	0.44152	AGT		0.413	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			Missense_Mutation
LAMP3	27074	broad.mit.edu	37	3	182872086	182872086	+	Missense_Mutation	SNP	A	A	G			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr3:182872086A>G	ENST00000265598.3	-	2	398	c.143T>C	c.(142-144)aTa>aCa	p.I48T	LAMP3_ENST00000466939.1_Missense_Mutation_p.I24T	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	48					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.I48T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGGTTTTTTTATGTCCTGTAC	0.428																																																1	Substitution - Missense(1)	ovary(1)	3											202.0	184.0	190.0					3																	182872086		2203	4300	6503	184354780	SO:0001583	missense	27074			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.143T>C	3.37:g.182872086A>G	ENSP00000265598:p.Ile48Thr		184354780	D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	CCDS3242.1	SNP	16	Broad	.	.	.	.	.	.	.	.	.	.	A	0.743	-0.775624	0.02951	.	.	ENSG00000078081	ENST00000265598;ENST00000466939;ENST00000476015;ENST00000470251	T;T;T;T	0.36520	1.83;1.85;1.25;1.28	4.73	0.36	0.16097	.	0.990321	0.08215	N	0.980033	T	0.11623	0.0283	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30621	-0.9972	10	0.07482	T	0.82	2.2098	8.2754	0.31868	0.0943:0.5046:0.4011:0.0	.	48	Q9UQV4	LAMP3_HUMAN	T	48;24;48;24	ENSP00000265598:I48T;ENSP00000418912:I24T;ENSP00000419059:I48T;ENSP00000420589:I24T	ENSP00000265598:I48T	I	-	2	0	LAMP3	184354780	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.539000	0.06113	-0.116000	0.11893	-0.313000	0.08912	ATA		0.428	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			Missense_Mutation
SMCO1	255798	broad.mit.edu	37	3	196235129	196235129	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr3:196235129G>A	ENST00000397537.2	-	3	430	c.274C>T	c.(274-276)Ctt>Ttt	p.L92F		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	92						integral component of membrane (GO:0016021)		p.L92F(1)									AGCTTCTCAAGCACACGAGTA	0.413																																																1	Substitution - Missense(1)	ovary(1)	3											109.0	106.0	107.0					3																	196235129		1910	4139	6049	197719526	SO:0001583	missense	255798			AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 43"""	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.274C>T	3.37:g.196235129G>A	ENSP00000380671:p.Leu92Phe		197719526	B3KW20	Missense_Mutation	SNP	ENST00000397537.2	37	CCDS43192.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281889	0.59758	.	.	ENSG00000214097	ENST00000397537	T	0.45276	0.9	5.46	3.64	0.41730	.	.	.	.	.	T	0.43478	0.1249	L	0.32530	0.975	0.25686	N	0.985741	P;P	0.44429	0.835;0.835	P;P	0.53102	0.718;0.718	T	0.21621	-1.0240	9	0.52906	T	0.07	-0.024	7.8246	0.29307	0.0841:0.3111:0.6048:0.0	.	92;84	Q147U7;E9PGG7	CC043_HUMAN;.	F	92	ENSP00000380671:L92F	ENSP00000380671:L92F	L	-	1	0	C3orf43	197719526	0.939000	0.31865	0.802000	0.32245	0.984000	0.73092	1.524000	0.35942	0.650000	0.30769	0.655000	0.94253	CTT		0.413	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1	NM_001006109		Missense_Mutation
PPP2R2C	5522	broad.mit.edu	37	4	6374374	6374374	+	Silent	SNP	G	G	T			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr4:6374374G>T	ENST00000382599.4	-	5	717	c.501C>A	c.(499-501)atC>atA	p.I167I	PPP2R2C_ENST00000506140.1_Silent_p.I160I|PPP2R2C_ENST00000335585.5_Silent_p.I167I|PPP2R2C_ENST00000515571.1_Silent_p.I150I|PPP2R2C_ENST00000507294.1_Silent_p.I160I|PPP2R2C_ENST00000314348.8_5'UTR			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	167					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.I167I(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CATTGGCAAAGATCCTCCGAG	0.592																																																1	Substitution - coding silent(1)	ovary(1)	4											213.0	176.0	188.0					4																	6374374		2203	4300	6503	6425275	SO:0001819	synonymous_variant	5522			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.501C>A	4.37:g.6374374G>T			6425275	A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37		SNP	33	Broad																																																																																				0.592	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		Silent
ANAPC4	29945	broad.mit.edu	37	4	25392590	25392590	+	Missense_Mutation	SNP	G	G	C			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr4:25392590G>C	ENST00000315368.3	+	9	800	c.658G>C	c.(658-660)Gtc>Ctc	p.V220L	ANAPC4_ENST00000510092.1_Missense_Mutation_p.V220L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.V220L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				ATTATCAGTGGTCACAGAAGT	0.348																																																1	Substitution - Missense(1)	ovary(1)	4											183.0	180.0	181.0					4																	25392590		2203	4299	6502	25001688	SO:0001583	missense	29945			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.658G>C	4.37:g.25392590G>C	ENSP00000318775:p.Val220Leu		25001688	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	CCDS3434.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139185	0.56936	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.29142	1.58;1.58	5.74	4.79	0.61399	WD40 repeat-like-containing domain (1);	0.099806	0.64402	D	0.000002	T	0.19565	0.0470	L	0.42245	1.32	0.37963	D	0.933037	B;B;B	0.34372	0.208;0.144;0.451	B;B;B	0.34301	0.179;0.021;0.07	T	0.08785	-1.0705	10	0.02654	T	1	-17.3294	6.9361	0.24466	0.1959:0.0:0.8041:0.0	.	220;220;220	Q9UJX5-2;E9PCR4;Q9UJX5	.;.;APC4_HUMAN	L	220	ENSP00000318775:V220L;ENSP00000426654:V220L	ENSP00000318775:V220L	V	+	1	0	ANAPC4	25001688	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.991000	0.63883	2.726000	0.93360	0.585000	0.79938	GTC		0.348	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		Missense_Mutation
UGDH	7358	broad.mit.edu	37	4	39501798	39501798	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr4:39501798G>A	ENST00000316423.6	-	12	1792	c.1450C>T	c.(1450-1452)Ctt>Ttt	p.L484F	UGDH_ENST00000506179.1_Missense_Mutation_p.L484F|UGDH_ENST00000507089.1_Missense_Mutation_p.L387F|UGDH_ENST00000501493.2_Missense_Mutation_p.L417F	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	484					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.L484F(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						GGATCTTGAAGACTAAACTTC	0.299																																																1	Substitution - Missense(1)	ovary(1)	4											76.0	77.0	77.0					4																	39501798		2203	4300	6503	39178193	SO:0001583	missense	7358			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.1450C>T	4.37:g.39501798G>A	ENSP00000319501:p.Leu484Phe		39178193	B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	CCDS3455.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150296	0.57151	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	D;T;D;D	0.83163	-1.69;-1.11;-1.69;-1.69	5.88	5.88	0.94601	.	0.134135	0.52532	D	0.000074	T	0.70945	0.3282	N	0.08118	0	0.43782	D	0.996317	P;P	0.37864	0.518;0.61	B;B	0.35655	0.086;0.207	T	0.73751	-0.3884	10	0.45353	T	0.12	-2.9106	19.2161	0.93778	0.0:0.0:1.0:0.0	.	417;484	B3KUU2;O60701	.;UGDH_HUMAN	F	484;417;484;387	ENSP00000319501:L484F;ENSP00000422909:L417F;ENSP00000421757:L484F;ENSP00000426560:L387F	ENSP00000319501:L484F	L	-	1	0	UGDH	39178193	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.931000	0.63469	2.778000	0.95560	0.655000	0.94253	CTT		0.299	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		Missense_Mutation
EPHA5	2044	broad.mit.edu	37	4	66217170	66217170	+	Silent	SNP	T	T	C			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr4:66217170T>C	ENST00000273854.3	-	14	3045	c.2445A>G	c.(2443-2445)aaA>aaG	p.K815K	EPHA5_ENST00000511294.1_Silent_p.K816K|EPHA5_ENST00000354839.4_Silent_p.K793K|EPHA5_ENST00000432638.2_Silent_p.K652K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	815	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.K815K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGTCAGACACTTTGCACACAA	0.458										TSP Lung(17;0.13)																																						1	Substitution - coding silent(1)	ovary(1)	4											139.0	120.0	126.0					4																	66217170		2203	4300	6503	65899765	SO:0001819	synonymous_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2445A>G	4.37:g.66217170T>C			65899765	Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1	SNP	56	Broad																																																																																				0.458	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		Silent
CCT5	22948	broad.mit.edu	37	5	10263335	10263335	+	Missense_Mutation	SNP	T	T	G			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr5:10263335T>G	ENST00000280326.4	+	10	1827	c.1407T>G	c.(1405-1407)aaT>aaG	p.N469K	CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000515390.1_Missense_Mutation_p.N414K|CCT5_ENST00000506600.1_Missense_Mutation_p.N376K|CCT5_ENST00000515676.1_Missense_Mutation_p.N431K|CCT5_ENST00000503026.1_Missense_Mutation_p.N448K	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	469					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)	p.N469K(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GTGGCATGAATCCCATCCAGA	0.542																																																1	Substitution - Missense(1)	ovary(1)	5											110.0	95.0	100.0					5																	10263335		2203	4300	6503	10316335	SO:0001583	missense	22948			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1407T>G	5.37:g.10263335T>G	ENSP00000280326:p.Asn469Lys		10316335	A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	CCDS3877.1	SNP	50	Broad	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613251	0.66672	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.63	-7.49	0.01355	.	0.000000	0.85682	D	0.000000	T	0.78585	0.4306	M	0.80422	2.495	0.58432	D	0.99999	B;B;P;P	0.37688	0.231;0.231;0.605;0.605	B;B;B;B	0.37989	0.262;0.192;0.214;0.214	T	0.74833	-0.3530	10	0.72032	D	0.01	-40.4416	17.9574	0.89073	0.0:0.68:0.0:0.32	.	376;414;469;469	B4DYD8;E7ENZ3;A8K2X8;P48643	.;.;.;TCPE_HUMAN	K	469;448;414;442;431;376	ENSP00000280326:N469K;ENSP00000423318:N448K;ENSP00000426923:N414K;ENSP00000427297:N431K;ENSP00000423052:N376K	ENSP00000280326:N469K	N	+	3	2	CCT5	10316335	0.562000	0.26586	0.757000	0.31301	0.971000	0.66376	-0.259000	0.08721	-1.564000	0.01678	-0.379000	0.06801	AAT		0.542	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			Missense_Mutation
DNAH5	1767	broad.mit.edu	37	5	13770873	13770873	+	Missense_Mutation	SNP	C	C	T	rs573476401	byFrequency	TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr5:13770873C>T	ENST00000265104.4	-	56	9694	c.9590G>A	c.(9589-9591)cGg>cAg	p.R3197Q	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3197	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3197Q(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCCAGGGTCCGCACCTCCAC	0.458									Kartagener syndrome				T|||	2	0.000399361	0.0	0.0	5008	,	,		19892	0.0		0.0	False		,,,				2504	0.002															2	Substitution - Missense(2)	ovary(2)	5											84.0	78.0	80.0					5																	13770873		2203	4300	6503	13823873	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9590G>A	5.37:g.13770873C>T	ENSP00000265104:p.Arg3197Gln		13823873	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	T	8.380	0.837376	0.16891	.	.	ENSG00000039139	ENST00000265104	T	0.21543	2.0	5.81	3.43	0.39272	.	0.292466	0.38605	N	0.001629	T	0.04588	0.0125	N	0.00277	-1.72	0.21579	N	0.999637	B	0.02656	0.0	B	0.01281	0.0	T	0.40683	-0.9550	10	0.12430	T	0.62	.	9.7652	0.40557	0.0:0.1948:0.0:0.8052	.	3197	Q8TE73	DYH5_HUMAN	Q	3197	ENSP00000265104:R3197Q	ENSP00000265104:R3197Q	R	-	2	0	DNAH5	13823873	1.000000	0.71417	0.996000	0.52242	0.720000	0.41350	1.834000	0.39171	0.131000	0.18576	-0.254000	0.11334	CGG		0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		Missense_Mutation
CUL9	23113	broad.mit.edu	37	6	43152469	43152469	+	Missense_Mutation	SNP	G	G	A	rs375566962		TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr6:43152469G>A	ENST00000252050.4	+	2	505	c.421G>A	c.(421-423)Gct>Act	p.A141T	CUL9_ENST00000372647.2_Missense_Mutation_p.A141T|CUL9_ENST00000354495.3_Missense_Mutation_p.A141T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	141					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.A141T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCTCACGGCCGCTGTGCTTCA	0.627																																																1	Substitution - Missense(1)	ovary(1)	6						G	THR/ALA	0,4406		0,0,2203	65.0	65.0	65.0		421	0.9	0.8	6		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUL9	NM_015089.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	141/2518	43152469	1,13005	2203	4300	6503	43260447	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.421G>A	6.37:g.43152469G>A	ENSP00000252050:p.Ala141Thr		43260447	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003242	0.35320	0.0	1.16E-4	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72835	-0.69;1.02;1.02	3.91	0.87	0.19102	Armadillo-like helical (1);	0.497929	0.22699	N	0.056703	T	0.25568	0.0622	N	0.14661	0.345	0.22842	N	0.998666	B;B;B	0.12013	0.001;0.003;0.005	B;B;B	0.08055	0.0;0.001;0.003	T	0.16305	-1.0407	10	0.42905	T	0.14	-3.0489	4.0476	0.09779	0.2121:0.0:0.4312:0.3567	.	141;141;141	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	T	141	ENSP00000252050:A141T;ENSP00000346490:A141T;ENSP00000361730:A141T	ENSP00000252050:A141T	A	+	1	0	CUL9	43260447	0.682000	0.27624	0.839000	0.33178	0.637000	0.38172	1.112000	0.31172	0.429000	0.26202	0.313000	0.20887	GCT		0.627	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		Missense_Mutation
ABCC10	89845	broad.mit.edu	37	6	43402564	43402564	+	Missense_Mutation	SNP	G	G	A			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr6:43402564G>A	ENST00000372530.4	+	4	1801	c.1586G>A	c.(1585-1587)gGg>gAg	p.G529E	ABCC10_ENST00000443426.2_3'UTR|ABCC10_ENST00000244533.3_Missense_Mutation_p.G486E	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	529	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.G486E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTCCTCATGGGGCACCAGCTC	0.562																																																1	Substitution - Missense(1)	ovary(1)	6											81.0	78.0	79.0					6																	43402564		2203	4300	6503	43510542	SO:0001583	missense	89845			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1586G>A	6.37:g.43402564G>A	ENSP00000361608:p.Gly529Glu		43510542	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	SNP	43	Broad	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653905	0.88056	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.94330	-3.4;-2.87;-2.87	5.84	5.84	0.93424	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.054513	0.64402	D	0.000001	D	0.96716	0.8928	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.78314	0.976;0.991	D	0.96165	0.9118	10	0.59425	D	0.04	-21.9244	20.1379	0.98040	0.0:0.0:1.0:0.0	.	486;529	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	E	85;529;486	ENSP00000361593:G85E;ENSP00000361608:G529E;ENSP00000244533:G486E	ENSP00000244533:G486E	G	+	2	0	ABCC10	43510542	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.862000	0.99564	2.779000	0.95612	0.655000	0.94253	GGG		0.562	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		Missense_Mutation
ZNF746	155061	broad.mit.edu	37	7	149174723	149174723	+	Missense_Mutation	SNP	C	C	A			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr7:149174723C>A	ENST00000340622.3	-	5	924	c.644G>T	c.(643-645)gGg>gTg	p.G215V	ZNF746_ENST00000458143.2_Missense_Mutation_p.G215V			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	215					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.G215V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGCTCCTCCCCAATATCTGG	0.632																																																1	Substitution - Missense(1)	ovary(1)	7											45.0	48.0	47.0					7																	149174723		2203	4300	6503	148805656	SO:0001583	missense	155061			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.644G>T	7.37:g.149174723C>A	ENSP00000345140:p.Gly215Val		148805656	A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	CCDS5897.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204656	0.79127	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.09445	2.98;3.07	4.94	4.05	0.47172	.	0.137643	0.33290	N	0.005073	T	0.19046	0.0457	L	0.40543	1.245	0.58432	D	0.999997	D;D	0.71674	0.998;0.997	D;D	0.69654	0.965;0.923	T	0.00587	-1.1657	10	0.38643	T	0.18	-23.0581	8.2504	0.31715	0.0:0.8939:0.0:0.1061	.	215;215	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	V	215	ENSP00000345140:G215V;ENSP00000395007:G215V	ENSP00000345140:G215V	G	-	2	0	ZNF746	148805656	0.990000	0.36364	0.997000	0.53966	0.979000	0.70002	2.021000	0.41020	2.286000	0.76751	0.563000	0.77884	GGG		0.632	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		Missense_Mutation
DLC1	10395	broad.mit.edu	37	8	12960305	12960305	+	Silent	SNP	C	C	T			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr8:12960305C>T	ENST00000276297.4	-	8	1969	c.1560G>A	c.(1558-1560)cgG>cgA	p.R520R	DLC1_ENST00000358919.2_Silent_p.R83R|DLC1_ENST00000520226.1_Silent_p.R9R|DLC1_ENST00000512044.2_Silent_p.R117R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	520					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R520R(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCACTCGTTTCCGATGAGGAC	0.368																																																1	Substitution - coding silent(1)	ovary(1)	8											187.0	181.0	183.0					8																	12960305		2203	4300	6503	13004676	SO:0001819	synonymous_variant	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1560G>A	8.37:g.12960305C>T			13004676	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1	SNP	30	Broad																																																																																				0.368	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		Silent
INTS10	55174	broad.mit.edu	37	8	19675162	19675162	+	Silent	SNP	A	A	G	rs375410459		TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr8:19675162A>G	ENST00000397977.3	+	1	512	c.114A>G	c.(112-114)gcA>gcG	p.A38A	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	38					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.A38A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TCTACCCGGCAGACTTTAACA	0.701																																																1	Substitution - coding silent(1)	ovary(1)	8						A		1,4089		0,1,2044	16.0	22.0	20.0		114	-1.9	0.9	8		20	0,8394		0,0,4197	no	coding-synonymous	INTS10	NM_018142.2		0,1,6241	GG,GA,AA		0.0,0.0244,0.0080		38/711	19675162	1,12483	2045	4197	6242	19719442	SO:0001819	synonymous_variant	55174			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.114A>G	8.37:g.19675162A>G			19719442	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	CCDS6011.2	SNP	7	Broad																																																																																				0.701	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		Silent
DMRT1	1761	broad.mit.edu	37	9	894144	894144	+	Silent	SNP	T	T	A			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr9:894144T>A	ENST00000382276.3	+	3	920	c.771T>A	c.(769-771)ctT>ctA	p.L257L	DMRT1_ENST00000569227.1_Silent_p.L99L	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	257					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L257L(1)		large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AGAACAGCCTTCGGGGCCTCC	0.542											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	9											66.0	71.0	69.0					9																	894144		2203	4300	6503	884144	SO:0001819	synonymous_variant	1761			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.771T>A	9.37:g.894144T>A		591	884144	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Silent	SNP	ENST00000382276.3	37	CCDS6442.1	SNP	62	Broad																																																																																				0.542	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		Silent
TRUB2	26995	broad.mit.edu	37	9	131071899	131071899	+	Missense_Mutation	SNP	C	C	T			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	x	x	---			x	TCGA-09-2045-01	TCGA-09-2045-11	g.chr9:131071899C>T	ENST00000372890.4	-	8	1259	c.926G>A	c.(925-927)aGt>aAt	p.S309N	TRUB2_ENST00000546104.1_Missense_Mutation_p.S253N|TRUB2_ENST00000460320.1_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	309					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.S309N(1)		kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCATCCCGGACTGGGGAGCTG	0.652																																																1	Substitution - Missense(1)	ovary(1)	9											37.0	40.0	39.0					9																	131071899		2203	4300	6503	130111720	SO:0001583	missense	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.926G>A	9.37:g.131071899C>T	ENSP00000361982:p.Ser309Asn		130111720	B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	CCDS6897.1	SNP	20	Broad	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241455	0.22711	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.18338	2.22;2.22	5.38	-0.185	0.13276	.	1.410880	0.03721	N	0.251841	T	0.12774	0.0310	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25363	-1.0134	10	0.17832	T	0.49	0.5709	1.297	0.02071	0.2469:0.4118:0.1207:0.2206	.	309	O95900	TRUB2_HUMAN	N	309;253	ENSP00000361982:S309N;ENSP00000438084:S253N	ENSP00000361982:S309N	S	-	2	0	TRUB2	130111720	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.570000	0.05895	0.048000	0.15891	0.561000	0.74099	AGT		0.652	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		Missense_Mutation
SUSD4	55061	broad.mit.edu	37	1	223536703	223536705	+	In_Frame_Del	DEL	TGC	TGC	-	rs143929528	byFrequency	TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-09-2045-01	TCGA-09-2045-11	g.chr1:223536703_223536705delTGC	ENST00000343846.3	-	1	696_698	c.63_65delGCA	c.(61-66)cagcaa>caa	p.21_22QQ>Q	SUSD4_ENST00000344029.6_In_Frame_Del_p.21_22QQ>Q|SUSD4_ENST00000484758.2_In_Frame_Del_p.21_22QQ>Q|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000494793.2_In_Frame_Del_p.21_22QQ>Q|SUSD4_ENST00000366878.4_In_Frame_Del_p.21_22QQ>Q|SUSD4_ENST00000366877.3_In_Frame_Del_p.21_22QQ>Q|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	21						integral component of membrane (GO:0016021)		p.Q22R(2)|p.Q22delQ(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGACTGAGGTtgctgctgctgct	0.571														161	0.0321486	0.0008	0.0216	5008	,	,		16437	0.0972		0.002	False		,,,				2504	0.046															4	Substitution - Missense(2)|Deletion - In frame(2)	large_intestine(4)	1							,	73,323,3854		0,1,72,15,292,1745					,	1.4	1.0		dbSNP_134	32	171,5,8058		1,0,169,0,5,3942	no	codingComplex,codingComplex	SUSD4	NM_017982.3,NM_001037175.2	,	1,1,241,15,297,5687	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1375,9.3176,4.5819	,	,		244,328,11912				221603328	SO:0001651	inframe_deletion	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.63_65delGCA	1.37:g.223536712_223536714delTGC	ENSP00000344219:p.Gln22del		221603326	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	In_Frame_Del	DEL	ENST00000343846.3	37	CCDS41471.1	DEL	63	Broad																																																																																				0.571	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		In_Frame_Del
LRRIQ1	84125	broad.mit.edu	37	12	85517872	85517872	+	Frame_Shift_Del	DEL	A	A	-			TCGA-09-2045-01	TCGA-09-2045-11							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-09-2045-01	TCGA-09-2045-11	g.chr12:85517872delA	ENST00000393217.2	+	17	3643	c.3582delA	c.(3580-3582)gcafs	p.A1194fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1194								p.E1195fs*10(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGGATACTGCAGAAAATCTCT	0.313																																																1	Deletion - Frameshift(1)	ovary(1)	12											49.0	52.0	51.0					12																	85517872		2203	4300	6503	84042003	SO:0001589	frameshift_variant	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3582delA	12.37:g.85517872delA	ENSP00000376910:p.Ala1194fs		84042003	Q567P4|Q9BS17|Q9HA36	Frame_Shift_Del	DEL	ENST00000393217.2	37	CCDS41816.1	DEL	7	Broad																																																																																				0.313	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		Frame_Shift_Del
