#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ARID1A	8289	broad.mit.edu	37	1	27100117	27100117	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:27100117C>T	ENST00000324856.7	+	16	4284	c.3913C>T	c.(3913-3915)Cca>Tca	p.P1305S	ARID1A_ENST00000457599.2_Missense_Mutation_p.P1305S|ARID1A_ENST00000374152.2_Missense_Mutation_p.P922S|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1305					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CACTGGGGCCCCACAGCCGAA	0.577			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3913-3915)Cca>Tca		AT rich interactive domain 1A (SWI-like)							66.0	75.0	72.0					1																	27100117		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100117C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3913C>T	1.37:g.27100117C>T	ENSP00000320485:p.Pro1305Ser					ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1305S|ARID1A_ENST00000374152.2_Missense_Mutation_p.P922S	p.P1305S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	16	4284	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1305					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3913C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.54|16.54	3.151224|3.151224	0.57151|0.57151	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|T;T;T	.|0.02682	.|4.37;4.2;4.2	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.109412|0.109412	0.64402|0.64402	D|D	0.000005|0.000005	T|T	0.02533|0.02533	0.0077|0.0077	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;P;P;P	.|0.48294	.|0.386;0.851;0.908;0.851	.|B;B;B;B	.|0.43916	.|0.124;0.253;0.436;0.253	T|T	0.68735|0.68735	-0.5330|-0.5330	6|10	.|0.15952	.|T	.|0.53	-5.6034|-5.6034	13.5032|13.5032	0.61469|0.61469	0.156:0.844:0.0:0.0|0.156:0.844:0.0:0.0	.|.	.|922;1305;1305;958	.|O14497-3;O14497;O14497-2;Q4LE49	.|.;ARI1A_HUMAN;.;.	L|S	201|1305;1305;922	.|ENSP00000320485:P1305S;ENSP00000387636:P1305S;ENSP00000363267:P922S	.|ENSP00000320485:P1305S	P|P	+|+	2|1	0|0	ARID1A|ARID1A	26972704|26972704	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.486000|3.486000	0.53215|0.53215	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.577	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		11	61	11	61	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70482159	70482159	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:70482159T>C	ENST00000035383.5	+	12	1178	c.1148T>C	c.(1147-1149)tTa>tCa	p.L383S	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.L388S|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	383						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTGAAGAATTTACCATTCTCA	0.299																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1162-1164)tTa>tCa		leucine rich repeat containing 7							107.0	112.0	110.0					1																	70482159		2202	4295	6497	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70482159T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1148T>C	1.37:g.70482159T>C	ENSP00000035383:p.Leu383Ser					LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.L383S	p.L388S			Q96NW7	LRRC7_HUMAN			15	1581	+			383					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1163T>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308328	0.81247	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.20069	2.1;2.1	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000002	T	0.50103	0.1596	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65055	-0.6261	10	0.87932	D	0	.	14.941	0.70994	0.0:0.0:0.0:1.0	.	383	Q96NW7	LRRC7_HUMAN	S	388;383;206	ENSP00000309245:L388S;ENSP00000035383:L383S	ENSP00000035383:L383S	L	+	2	0	LRRC7	70254747	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.407000	0.80029	2.171000	0.68590	0.528000	0.53228	TTA		0.299	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		8	98	8	98	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152192453	152192453	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:152192453C>G	ENST00000368801.2	-	3	1727	c.1652G>C	c.(1651-1653)gGt>gCt	p.G551A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	551					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCCTGGAACCAGACTCATG	0.592																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1651-1653)gGt>gCt		hornerin							145.0	155.0	151.0					1																	152192453		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192453C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1652G>C	1.37:g.152192453C>G	ENSP00000357791:p.Gly551Ala					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G551A	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1727	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		551					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1652G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	6.281	0.419885	0.11928	.	.	ENSG00000197915	ENST00000368801	T	0.01560	4.77	3.71	-1.88	0.07713	.	.	.	.	.	T	0.00300	0.0009	L	0.27053	0.805	0.09310	N	1	P	0.42692	0.787	B	0.35688	0.208	T	0.36504	-0.9745	9	0.05721	T	0.95	.	4.0615	0.09841	0.0:0.3395:0.3409:0.3196	.	551	Q86YZ3	HORN_HUMAN	A	551	ENSP00000357791:G551A	ENSP00000357791:G551A	G	-	2	0	HRNR	150459077	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.111000	0.10807	-0.667000	0.05303	0.549000	0.68633	GGT		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		6	216	6	216	---	---	---	---
TMCC2	9911	broad.mit.edu	37	1	205238117	205238117	+	Missense_Mutation	SNP	G	G	A	rs558421698		TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr1:205238117G>A	ENST00000358024.3	+	3	1176	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	TMCC2_ENST00000329800.7_Missense_Mutation_p.G23S|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.G38S|TMCC2_ENST00000545499.1_Missense_Mutation_p.G185S	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	263						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCCGCCGGCCATGGTGA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		15181	0.0		0.0	False		,,,				2504	0.001					ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(787-789)Ggc>Agc		transmembrane and coiled-coil domain family 2							45.0	50.0	48.0					1																	205238117		2197	4296	6493	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205238117G>A	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.787G>A	1.37:g.205238117G>A	ENSP00000350718:p.Gly263Ser					TMCC2_ENST00000329800.7_Missense_Mutation_p.G23S|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.G185S|TMCC2_ENST00000330675.7_Missense_Mutation_p.G38S	p.G263S	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1176	+	Breast(84;0.0871)		263					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.787G>A	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.765502	0.00651	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000367159;ENST00000330675;ENST00000329800	T;T;T;T;T	0.62941	1.65;1.68;-0.01;1.07;1.08	5.54	4.63	0.57726	.	0.341271	0.37715	N	0.001964	T	0.26738	0.0654	N	0.01576	-0.805	0.22017	N	0.999411	B;B;B;B	0.22480	0.07;0.013;0.007;0.007	B;B;B;B	0.10450	0.005;0.002;0.002;0.002	T	0.25222	-1.0138	10	0.06757	T	0.87	.	7.2485	0.26135	0.2865:0.0:0.7135:0.0	.	59;23;38;263	Q8IW47;G5E963;B2RAX5;O75069	.;.;.;TMCC2_HUMAN	S	263;185;67;38;23	ENSP00000350718:G263S;ENSP00000437943:G185S;ENSP00000356127:G67S;ENSP00000331842:G38S;ENSP00000329436:G23S	ENSP00000329436:G23S	G	+	1	0	TMCC2	203504740	0.036000	0.19791	0.769000	0.31535	0.022000	0.10575	0.155000	0.16362	1.355000	0.45865	-0.448000	0.05591	GGC		0.662	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		9	74	9	74	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179476287	179476287	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr2:179476287T>G	ENST00000591111.1	-	219	45970	c.45746A>C	c.(45745-45747)gAa>gCa	p.E15249A	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E16890A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8017A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14322A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7950A|TTN_ENST00000460472.2_Missense_Mutation_p.E7825A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15249	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGACACATTTCAACATGGTA	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50668-50670)gAa>gCa		titin							110.0	104.0	106.0					2																	179476287		1895	4123	6018	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476287T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45746A>C	2.37:g.179476287T>G	ENSP00000465570:p.Glu15249Ala					TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8017A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15249A|TTN_ENST00000342992.6_Missense_Mutation_p.E14322A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7950A|TTN_ENST00000460472.2_Missense_Mutation_p.E7825A|TTN-AS1_ENST00000589487.1_RNA	p.E16890A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		269	50893	-			15249			Fibronectin type-III 22.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50669A>C		.	.	.	.	.	.	.	.	.	.	T	13.55	2.269375	0.40095	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.95	5.95	0.96441	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83940	0.5363	H	0.96269	3.795	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	D	0.89081	0.3476	9	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	7825;7950;8017;15249	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	14322;7825;8017;7950;7825	ENSP00000343764:E14322A;ENSP00000434586:E7825A;ENSP00000340554:E8017A;ENSP00000352154:E7950A	ENSP00000340554:E8017A	E	-	2	0	TTN	179184532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.991000	0.88244	2.279000	0.76181	0.533000	0.62120	GAA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		53	78	53	78	---	---	---	---
EIF4E	1977	broad.mit.edu	37	4	99823091	99823091	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr4:99823091T>G	ENST00000450253.2	-	2	1585	c.61A>C	c.(61-63)Aaa>Caa	p.K21Q	EIF4E_ENST00000280892.6_Missense_Mutation_p.K41Q|EIF4E_ENST00000504432.1_Missense_Mutation_p.K49Q|EIF4E_ENST00000505992.1_Missense_Mutation_p.K21Q|EIF4E_ENST00000504472.1_5'UTR	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	21					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		GATTCCGTTTTCTCCTCTTCT	0.388																																						ENST00000450253.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13						c.(61-63)Aaa>Caa		eukaryotic translation initiation factor 4E							153.0	155.0	154.0					4																	99823091		2203	4299	6502	SO:0001583	missense	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99823091T>G	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.61A>C	4.37:g.99823091T>G	ENSP00000389624:p.Lys21Gln					EIF4E_ENST00000280892.6_Missense_Mutation_p.K41Q|EIF4E_ENST00000504432.1_Missense_Mutation_p.K49Q|EIF4E_ENST00000505992.1_Missense_Mutation_p.K21Q|EIF4E_ENST00000504472.1_5'UTR	p.K21Q	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	2	1585	-			21					B7Z6V1|D6RCQ6|Q96E95	Missense_Mutation	SNP	ENST00000450253.2	37	c.61A>C	CCDS34031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.05|17.05	3.288715|3.288715	0.59976|0.59976	.|.	.|.	ENSG00000151247|ENSG00000151247	ENST00000511644|ENST00000450253;ENST00000280892;ENST00000504432;ENST00000505992	T|T;T;T;T	0.40476|0.45668	1.03|0.95;0.95;0.95;0.89	5.85|5.85	5.85|5.85	0.93711|0.93711	.|Translation Initiation factor eIF- 4e-like  domain (2);	.|0.362363	.|0.32218	.|N	.|0.006410	T|T	0.44498|0.44498	0.1296|0.1296	N|N	0.08118|0.08118	0|0	0.48696|0.48696	D|D	0.999693|0.999693	.|B;D;P;B	.|0.67145	.|0.445;0.996;0.703;0.204	.|P;D;P;B	.|0.77557	.|0.784;0.99;0.845;0.397	T|T	0.48969|0.48969	-0.8987|-0.8987	7|10	0.30854|0.30078	T|T	0.27|0.28	-28.2524|-28.2524	16.204|16.204	0.82108|0.82108	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|21;21;41;21	.|B7Z2T1;P06730-2;B7Z6V1;P06730	.|.;.;.;IF4E_HUMAN	A|Q	17|21;41;49;21	ENSP00000421287:E17A|ENSP00000389624:K21Q;ENSP00000280892:K41Q;ENSP00000423977:K49Q;ENSP00000425561:K21Q	ENSP00000421287:E17A|ENSP00000280892:K41Q	E|K	-|-	2|1	0|0	EIF4E|EIF4E	100042114|100042114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	5.330000|5.330000	0.65899|0.65899	2.363000|2.363000	0.80096|0.80096	0.523000|0.523000	0.50628|0.50628	GAA|AAA		0.388	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		55	90	55	90	---	---	---	---
HSPB3	8988	broad.mit.edu	37	5	53751722	53751722	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr5:53751722T>C	ENST00000302005.1	+	1	278	c.103T>C	c.(103-105)Tat>Cat	p.Y35H		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	35					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCATGCTTTATATGCACTGCC	0.542																																						ENST00000302005.1																			0				breast(1)|large_intestine(4)|prostate(3)	8						c.(103-105)Tat>Cat		heat shock 27kDa protein 3							78.0	77.0	77.0					5																	53751722		2203	4300	6503	SO:0001583	missense	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53751722T>C	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.103T>C	5.37:g.53751722T>C	ENSP00000303394:p.Tyr35His						p.Y35H	NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN			1	278	+		Lung NSC(810;0.00104)	35						Missense_Mutation	SNP	ENST00000302005.1	37	c.103T>C	CCDS3961.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757964	0.69648	.	.	ENSG00000169271	ENST00000302005	D	0.91351	-2.83	6.03	6.03	0.97812	.	0.078427	0.51477	D	0.000087	D	0.94706	0.8292	M	0.73962	2.25	0.41532	D	0.988461	D	0.89917	1.0	D	0.72075	0.976	D	0.93705	0.7019	10	0.30854	T	0.27	-44.4107	16.5655	0.84588	0.0:0.0:0.0:1.0	.	35	Q12988	HSPB3_HUMAN	H	35	ENSP00000303394:Y35H	ENSP00000303394:Y35H	Y	+	1	0	HSPB3	53787479	1.000000	0.71417	0.364000	0.25888	0.404000	0.30871	6.282000	0.72639	2.302000	0.77476	0.533000	0.62120	TAT		0.542	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			29	65	29	65	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33943522	33943522	+	Silent	SNP	C	C	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr9:33943522C>A	ENST00000379238.1	-	15	1728	c.1611G>T	c.(1609-1611)ggG>ggT	p.G537G	UBAP2_ENST00000449054.1_Silent_p.G537G|UBAP2_ENST00000379225.1_Silent_p.G170G|UBAP2_ENST00000360802.1_Silent_p.G537G|UBAP2_ENST00000379239.4_Silent_p.G270G|UBAP2_ENST00000418786.2_Silent_p.G484G|UBAP2_ENST00000539807.1_Silent_p.G292G					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTCCAGAGCCCCAAACTGCA	0.453																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(1609-1611)ggG>ggT		ubiquitin associated protein 2							91.0	87.0	88.0					9																	33943522		2203	4300	6503	SO:0001819	synonymous_variant	55833							g.chr9:33943522C>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1611G>T	9.37:g.33943522C>A						UBAP2_ENST00000539807.1_Silent_p.G292G|UBAP2_ENST00000379225.1_Silent_p.G170G|UBAP2_ENST00000418786.2_Silent_p.G484G|UBAP2_ENST00000360802.1_Silent_p.G537G|UBAP2_ENST00000449054.1_Silent_p.G537G|UBAP2_ENST00000379239.4_Silent_p.G270G	p.G537G			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	15	1728	-			537						Silent	SNP	ENST00000379238.1	37	c.1611G>T	CCDS6547.1																																																																																				0.453	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		29	57	29	57	---	---	---	---
DNAJC25	548645	broad.mit.edu	37	9	114412196	114412196	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr9:114412196A>G	ENST00000313525.3	+	3	1009	c.953A>G	c.(952-954)aAt>aGt	p.N318S	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	318						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						ATCAAGGAGAATTATGAGGTG	0.373																																						ENST00000313525.3																			0				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						c.(952-954)aAt>aGt		DnaJ (Hsp40) homolog, subfamily C , member 25							26.0	26.0	26.0					9																	114412196		1853	4084	5937	SO:0001583	missense	548645				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr9:114412196A>G		CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"""Heat shock proteins / DNAJ (HSP40)"""	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.953A>G	9.37:g.114412196A>G	ENSP00000320650:p.Asn318Ser					DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	p.N318S	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN			3	1009	+			318					Q5QTD8|Q96BN9	Missense_Mutation	SNP	ENST00000313525.3	37	c.953A>G	CCDS43862.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056971	0.76074	.	.	ENSG00000059769	ENST00000313525	T	0.52754	0.65	5.78	5.78	0.91487	.	0.090497	0.85682	D	0.000000	T	0.54631	0.1870	M	0.87180	2.865	0.80722	D	1	P	0.43094	0.799	B	0.37650	0.255	T	0.65841	-0.6070	10	0.72032	D	0.01	-2.2579	14.6857	0.69047	1.0:0.0:0.0:0.0	.	318	Q9H1X3	DJC25_HUMAN	S	318	ENSP00000320650:N318S	ENSP00000320650:N318S	N	+	2	0	DNAJC25	113452017	1.000000	0.71417	0.982000	0.44146	0.967000	0.64934	7.093000	0.76937	2.200000	0.70718	0.460000	0.39030	AAT		0.373	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		14	13	14	13	---	---	---	---
HOGA1	112817	broad.mit.edu	37	10	99358577	99358577	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr10:99358577G>T	ENST00000370646.4	+	2	618	c.257G>T	c.(256-258)aGc>aTc	p.S86I	PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	86					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						TTCCTGACCAGCAGTGAGCGC	0.597																																						ENST00000370646.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						c.(256-258)aGc>aTc		4-hydroxy-2-oxoglutarate aldolase 1							163.0	145.0	151.0					10																	99358577		2203	4300	6503	SO:0001583	missense	112817							g.chr10:99358577G>T	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.257G>T	10.37:g.99358577G>T	ENSP00000359680:p.Ser86Ile					PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron	p.S86I	NM_138413.3	NP_612422.2					2	618	+								A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	c.257G>T	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076052	0.36662	.	.	ENSG00000241935	ENST00000370646	D	0.94966	-3.57	4.97	4.97	0.65823	Aldolase-type TIM barrel (1);	0.272597	0.43416	D	0.000568	D	0.89629	0.6770	L	0.38175	1.15	0.36393	D	0.862617	B	0.21821	0.061	B	0.24701	0.055	D	0.86473	0.1786	10	0.22109	T	0.4	-25.664	9.1297	0.36837	0.0829:0.1611:0.756:0.0	.	86	Q86XE5	HOGA1_HUMAN	I	86	ENSP00000359680:S86I	ENSP00000359680:S86I	S	+	2	0	HOGA1	99348567	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	2.003000	0.40844	2.299000	0.77371	0.655000	0.94253	AGC		0.597	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		4	97	4	97	---	---	---	---
PGR	5241	broad.mit.edu	37	11	100998642	100998642	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr11:100998642A>G	ENST00000325455.5	-	1	2613	c.1160T>C	c.(1159-1161)aTa>aCa	p.I387T	PGR_ENST00000263463.5_Missense_Mutation_p.I387T|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	387	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CTCCTCCTTTATCTTTAGAGC	0.677																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1159-1161)aTa>aCa		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						11.0	15.0	14.0					11																	100998642		2009	4033	6042	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100998642A>G	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1160T>C	11.37:g.100998642A>G	ENSP00000325120:p.Ile387Thr					PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.I387T	p.I387T	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2613	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	387			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.1160T>C	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.572200	0.65765	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.14893	2.47;2.47	4.02	4.02	0.46733	.	0.815655	0.09929	N	0.737443	T	0.45115	0.1326	M	0.82323	2.585	0.34075	D	0.658901	D;D	0.76494	0.999;0.968	D;D	0.70487	0.95;0.969	T	0.54801	-0.8239	10	0.87932	D	0	.	11.5381	0.50651	1.0:0.0:0.0:0.0	.	387;387	Q8TDS3;P06401	.;PRGR_HUMAN	T	387	ENSP00000325120:I387T;ENSP00000263463:I387T	ENSP00000263463:I387T	I	-	2	0	PGR	100503852	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.483000	0.60264	1.445000	0.47624	0.374000	0.22700	ATA		0.677	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			14	14	14	14	---	---	---	---
CDKN1B	1027	broad.mit.edu	37	12	12871204	12871204	+	Nonsense_Mutation	SNP	T	T	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr12:12871204T>G	ENST00000228872.4	+	1	1147	c.431T>G	c.(430-432)tTa>tGa	p.L144*	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.L144*	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	144					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CAGACGGGGTTAGCGGAGCAA	0.597																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(430-432)tTa>tGa		cyclin-dependent kinase inhibitor 1B (p27, Kip1)							35.0	34.0	35.0					12																	12871204		2203	4300	6503	SO:0001587	stop_gained	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871204T>G	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.431T>G	12.37:g.12871204T>G	ENSP00000228872:p.Leu144*					CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.L144*	p.L144*	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	1147	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	144					Q16307|Q5U0H2|Q9BUS6	Nonsense_Mutation	SNP	ENST00000228872.4	37	c.431T>G	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	T	42	9.462631	0.99178	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000396340	.	.	.	5.3	5.3	0.74995	.	0.413650	0.20169	N	0.097762	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-8.2811	10.64	0.45588	0.0:0.0:0.1603:0.8397	.	.	.	.	X	144;93;144	.	ENSP00000228872:L144X	L	+	2	0	CDKN1B	12762471	0.781000	0.28676	0.167000	0.22817	0.677000	0.39632	3.371000	0.52379	2.010000	0.58986	0.528000	0.53228	TTA		0.597	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		4	16	4	16	---	---	---	---
UTP14C	9724	broad.mit.edu	37	13	52603570	52603571	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr13:52603570_52603571TC>CT	ENST00000521776.2	+	2	1363_1364	c.630_631TC>CT	c.(628-633)tcTCtc>tcCTtc	p.L211F	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	211					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AAAAGGCCTCTCTCCAAGCCAT	0.525																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(628-630)tcT>tcC|c.(631-633)Ctc>Ttc		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)																																				SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603570T>C|g.chr13:52603571C>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	Exception_encountered	13.37:g.52603570_52603571delinsCT	ENSP00000428619:p.Leu211Phe					ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	p.S210S|p.L211F	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1363|1364	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	210|211					Q5FWG3|Q92555	Silent|Missense_Mutation	SNP	ENST00000521776.2	37	c.630T>C|c.631C>T	CCDS31978.1																																																																																				0.525	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		8	80|78	8	78	---	---	---	---
UACA	55075	broad.mit.edu	37	15	70960750	70960750	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr15:70960750T>C	ENST00000322954.6	-	16	2458	c.2273A>G	c.(2272-2274)gAt>gGt	p.D758G	UACA_ENST00000560441.1_Missense_Mutation_p.D743G|UACA_ENST00000379983.2_Missense_Mutation_p.D745G|UACA_ENST00000539319.1_Missense_Mutation_p.D649G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	758					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AATAATTGCATCATGTGACTT	0.303																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(2272-2274)gAt>gGt		uveal autoantigen with coiled-coil domains and ankyrin repeats							69.0	69.0	69.0					15																	70960750		2198	4296	6494	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960750T>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2273A>G	15.37:g.70960750T>C	ENSP00000314556:p.Asp758Gly					UACA_ENST00000539319.1_Missense_Mutation_p.D649G|UACA_ENST00000379983.2_Missense_Mutation_p.D745G|UACA_ENST00000560441.1_Missense_Mutation_p.D743G	p.D758G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	2458	-			758					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2273A>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	2.455	-0.325440	0.05350	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.35421	1.31;1.32;1.81	5.85	-3.75	0.04372	.	0.521247	0.18681	N	0.134144	T	0.19167	0.0460	L	0.29908	0.895	0.22693	N	0.998845	B;B;B;B	0.11235	0.0;0.001;0.001;0.004	B;B;B;B	0.14578	0.003;0.006;0.004;0.011	T	0.26430	-1.0103	10	0.17832	T	0.49	-4.9397	8.4206	0.32698	0.0:0.3674:0.1038:0.5289	.	649;758;758;745	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	G	758;745;649	ENSP00000314556:D758G;ENSP00000369319:D745G;ENSP00000438667:D649G	ENSP00000314556:D758G	D	-	2	0	UACA	68747804	0.043000	0.20138	0.005000	0.12908	0.303000	0.27691	0.301000	0.19174	-0.319000	0.08652	0.533000	0.62120	GAT		0.303	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			5	51	5	51	---	---	---	---
USP10	9100	broad.mit.edu	37	16	84793526	84793526	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr16:84793526T>C	ENST00000219473.7	+	7	1537	c.1424T>C	c.(1423-1425)aTg>aCg	p.M475T	USP10_ENST00000570191.1_Missense_Mutation_p.M479T	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	475	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TTCACTAATATGCCAGTACCT	0.328																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1423-1425)aTg>aCg		ubiquitin specific peptidase 10							116.0	107.0	110.0					16																	84793526		1827	4095	5922	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84793526T>C	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1424T>C	16.37:g.84793526T>C	ENSP00000219473:p.Met475Thr					USP10_ENST00000570191.1_Missense_Mutation_p.M479T	p.M475T	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			7	1537	+			475					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.1424T>C	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627213	0.66901	.	.	ENSG00000103194	ENST00000219473;ENST00000397953	T	0.28069	1.63	5.24	5.24	0.73138	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.421595	0.30003	N	0.010656	T	0.48960	0.1529	L	0.52011	1.625	0.80722	D	1	D;D	0.76494	0.999;0.982	D;D	0.69142	0.962;0.952	T	0.50197	-0.8856	10	0.87932	D	0	-34.2953	14.6316	0.68660	0.0:0.0:0.0:1.0	.	479;475	Q14694-3;Q14694	.;UBP10_HUMAN	T	475;37	ENSP00000219473:M475T	ENSP00000219473:M475T	M	+	2	0	USP10	83351027	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	7.318000	0.79029	2.108000	0.64289	0.533000	0.62120	ATG		0.328	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			26	17	26	17	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7836490	7836490	+	Silent	SNP	G	G	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:7836490G>T	ENST00000563694.1	+	1	1018	c.93G>T	c.(91-93)tcG>tcT	p.S31S	CNTROB_ENST00000380262.3_Silent_p.S31S|CNTROB_ENST00000565740.1_Silent_p.S31S|TRAPPC1_ENST00000540486.1_5'Flank|TRAPPC1_ENST00000303731.4_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank|CNTROB_ENST00000380255.3_Silent_p.S31S	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	31					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				ACCAAGTGTCGTCTGAAGTGA	0.612																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(91-93)tcG>tcT		centrobin, centrosomal BRCA2 interacting protein							104.0	109.0	107.0					17																	7836490		2203	4300	6503	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7836490G>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.93G>T	17.37:g.7836490G>T						CNTROB_ENST00000565740.1_Silent_p.S31S|CNTROB_ENST00000563694.1_Silent_p.S31S|CNTROB_ENST00000380255.3_Silent_p.S31S	p.S31S	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			1	1018	+		Prostate(122;0.173)	31					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.93G>T	CCDS11126.1																																																																																				0.612	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		50	87	50	87	---	---	---	---
TVP23C	201158	broad.mit.edu	37	17	15406355	15406355	+	Silent	SNP	C	C	A	rs150726968		TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:15406355C>A	ENST00000225576.3	-	6	749	c.654G>T	c.(652-654)gcG>gcT	p.A218A	TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	218						integral component of membrane (GO:0016021)											TAAGGCGGGGCGCAGGTTTCC	0.597																																						ENST00000225576.3																			0											c.(652-654)gcG>gcT		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							44.0	46.0	45.0					17																	15406355		2203	4300	6503	SO:0001819	synonymous_variant	201158							g.chr17:15406355C>A	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.654G>T	17.37:g.15406355C>A						TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	p.A218A	NM_145301.2	NP_660344.2					6	749	-								Q3LIC7	Silent	SNP	ENST00000225576.3	37	c.654G>T	CCDS11170.1																																																																																				0.597	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		15	26	15	26	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29576014	29576014	+	Silent	SNP	A	A	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:29576014A>G	ENST00000358273.4	+	30	4370	c.3987A>G	c.(3985-3987)tcA>tcG	p.S1329S	NF1_ENST00000356175.3_Silent_p.S1329S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1329	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGAACCATCAGAGAGCCTTG	0.368			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(3985-3987)tcA>tcG		neurofibromin 1							102.0	97.0	98.0					17																	29576014		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29576014A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3987A>G	17.37:g.29576014A>G		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Silent_p.S1329S	p.S1329S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	30	4370	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1329			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.3987A>G	CCDS42292.1																																																																																				0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	100	7	100	---	---	---	---
IGF2BP1	10642	broad.mit.edu	37	17	47121347	47121347	+	Missense_Mutation	SNP	A	A	G	rs574660242		TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr17:47121347A>G	ENST00000290341.3	+	11	1553	c.1219A>G	c.(1219-1221)Atg>Gtg	p.M407V	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.M268V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	407	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CGAGCAGGAGATGGTGCAGGT	0.617													A|||	1	0.000199681	0.0	0.0014	5008	,	,		18079	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1219-1221)Atg>Gtg		insulin-like growth factor 2 mRNA binding protein 1							88.0	78.0	81.0					17																	47121347		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47121347A>G	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1219A>G	17.37:g.47121347A>G	ENSP00000290341:p.Met407Val					IGF2BP1_ENST00000431824.2_Missense_Mutation_p.M268V	p.M407V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			11	1553	+			407			KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.1219A>G	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	A	9.976	1.226707	0.22542	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.61742	0.08;0.08	6.17	3.9	0.45041	K Homology (1);K Homology, type 1 (1);	0.210272	0.51477	N	0.000085	T	0.29355	0.0731	N	0.02916	-0.46	0.30377	N	0.782312	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.15321	-1.0441	10	0.31617	T	0.26	-31.1967	7.8007	0.29172	0.8074:0.0:0.0684:0.1242	.	268;407	C9JT33;Q9NZI8	.;IF2B1_HUMAN	V	407;268	ENSP00000290341:M407V;ENSP00000389135:M268V	ENSP00000290341:M407V	M	+	1	0	IGF2BP1	44476346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.039000	0.41193	0.518000	0.28383	0.533000	0.62120	ATG		0.617	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		43	48	43	48	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	347050	347050	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr18:347050T>C	ENST00000400256.3	-	5	779	c.572A>G	c.(571-573)aAt>aGt	p.N191S		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	191					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTTCTGCAGATTGCCCTGGAG	0.473																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(571-573)aAt>aGt		collectin sub-family member 12							153.0	151.0	152.0					18																	347050		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:347050T>C	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.572A>G	18.37:g.347050T>C	ENSP00000383115:p.Asn191Ser						p.N191S	NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN			5	779	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	191					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.572A>G	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.592186	0.00864	.	.	ENSG00000158270	ENST00000400256	T	0.16597	2.33	6.08	4.92	0.64577	.	0.218728	0.56097	D	0.000038	T	0.06416	0.0165	N	0.08118	0	0.27389	N	0.955205	B	0.09022	0.002	B	0.04013	0.001	T	0.40251	-0.9573	10	0.02654	T	1	-14.1293	6.0433	0.19746	0.0:0.1374:0.1382:0.7244	.	191	Q5KU26	COL12_HUMAN	S	191	ENSP00000383115:N191S	ENSP00000383115:N191S	N	-	2	0	COLEC12	337050	0.998000	0.40836	0.896000	0.35187	0.741000	0.42261	3.047000	0.49854	1.128000	0.42052	0.533000	0.62120	AAT		0.473	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			13	119	13	119	---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23713978	23713978	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr18:23713978C>A	ENST00000308268.6	+	1	138	c.49C>A	c.(49-51)Cac>Aac	p.H17N	PSMA8_ENST00000343848.6_Missense_Mutation_p.H17N|PSMA8_ENST00000415576.2_Missense_Mutation_p.H17N	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	17					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCCAGACGGACACCTTTTTCA	0.562																																						ENST00000308268.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16						c.(49-51)Cac>Aac		proteasome (prosome, macropain) subunit, alpha type, 8							123.0	111.0	115.0					18																	23713978		2203	4300	6503	SO:0001583	missense	143471				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23713978C>A	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.49C>A	18.37:g.23713978C>A	ENSP00000311121:p.His17Asn					PSMA8_ENST00000343848.6_Missense_Mutation_p.H17N|PSMA8_ENST00000415576.2_Missense_Mutation_p.H17N	p.H17N	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		1	138	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		17					B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	ENST00000308268.6	37	c.49C>A	CCDS32808.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815055	0.50527	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000536423	T;T;T	0.42131	0.98;0.98;0.98	5.08	5.08	0.68730	Proteasome, alpha-subunit, conserved site (3);	0.000000	0.85682	D	0.000000	T	0.59128	0.2171	M	0.87617	2.895	0.80722	D	1	B;B;B	0.30281	0.275;0.233;0.268	B;B;B	0.41174	0.349;0.237;0.111	T	0.65278	-0.6207	10	0.87932	D	0	-10.4781	16.019	0.80468	0.0:1.0:0.0:0.0	.	17;17;17	Q8TAA3;Q8TAA3-5;Q8TAA3-2	PSA7L_HUMAN;.;.	N	17	ENSP00000311121:H17N;ENSP00000409284:H17N;ENSP00000345584:H17N	ENSP00000311121:H17N	H	+	1	0	PSMA8	21967976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.786000	0.75094	2.637000	0.89404	0.655000	0.94253	CAC		0.562	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662		4	59	4	59	---	---	---	---
PSG1	5669	broad.mit.edu	37	19	43372287	43372287	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr19:43372287C>A	ENST00000436291.2	-	5	1325	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	PSG1_ENST00000403380.3_Missense_Mutation_p.K310N|PSG1_ENST00000595124.1_Missense_Mutation_p.K310N|PSG1_ENST00000244296.2_Missense_Mutation_p.K403N|PSG1_ENST00000595356.1_Missense_Mutation_p.K403N|PSG1_ENST00000312439.6_Missense_Mutation_p.K403N	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	403	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGAGCTTTCCTTGCCAGTGG	0.458																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1207-1209)aaG>aaT		pregnancy specific beta-1-glycoprotein 1							215.0	216.0	216.0					19																	43372287		2202	4296	6498	SO:0001583	missense	5669							g.chr19:43372287C>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.1209G>T	19.37:g.43372287C>A	ENSP00000413041:p.Lys403Asn					PSG1_ENST00000403380.3_Missense_Mutation_p.K310N|PSG1_ENST00000312439.6_Missense_Mutation_p.K403N|PSG1_ENST00000595124.1_Missense_Mutation_p.K310N|PSG1_ENST00000595356.1_Missense_Mutation_p.K403N|PSG1_ENST00000436291.2_Missense_Mutation_p.K403N	p.K403N	NM_006905.2	NP_008836.2					5	1346	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.1209G>T	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	0.258	-1.001944	0.02128	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	1.59	-3.18	0.05186	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17066	0.0410	L	0.53780	1.695	0.09310	N	1	B;P;B;P;B;B;P	0.42337	0.115;0.696;0.254;0.741;0.115;0.001;0.776	B;P;B;P;B;B;P	0.48488	0.187;0.535;0.284;0.568;0.187;0.005;0.579	T	0.12578	-1.0542	9	0.27785	T	0.31	.	9.0644	0.36453	0.0:0.6843:0.3157:0.0	.	403;310;403;310;403;310;275	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;B4DTG5	.;.;PSG1_HUMAN;.;.;.;.	N	403;310;403;403	ENSP00000413041:K403N;ENSP00000385386:K310N;ENSP00000308970:K403N;ENSP00000244296:K403N	ENSP00000244296:K403N	K	-	3	2	PSG1	48064127	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.786000	0.00366	-1.201000	0.02659	-1.271000	0.01417	AAG		0.458	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			95	177	95	177	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55451127	55451127	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr19:55451127C>T	ENST00000590030.1	-	3	1100	c.1060G>A	c.(1060-1062)Gcg>Acg	p.A354T	NLRP7_ENST00000446217.1_Missense_Mutation_p.A382T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A354T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A354T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A354T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A354T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A354T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	354	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AACAGGGCCGCGTTGCTCCTC	0.627																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1144-1146)Gcg>Acg		NLR family, pyrin domain containing 7							29.0	32.0	31.0					19																	55451127		2203	4297	6500	SO:0001583	missense	199713						ATP binding	g.chr19:55451127C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1060G>A	19.37:g.55451127C>T	ENSP00000465520:p.Ala354Thr					NLRP7_ENST00000590030.1_Missense_Mutation_p.A354T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A354T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A354T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A354T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A354T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A354T	p.A382T			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1546	-			354			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1144G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397236	0.42512	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.72942	-0.65;-0.65;-0.7;-0.67	1.89	-0.448	0.12230	NACHT nucleoside triphosphatase (1);	0.883995	0.09194	N	0.835623	T	0.67002	0.2847	L	0.42686	1.345	0.09310	N	1	D;D;D;D	0.69078	0.995;0.991;0.995;0.997	P;P;P;P	0.52672	0.512;0.629;0.512;0.706	T	0.56032	-0.8046	10	0.46703	T	0.11	.	4.6323	0.12507	0.0:0.6199:0.2277:0.1524	.	382;354;354;354	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	T	354;354;354;382;121	ENSP00000329568:A354T;ENSP00000409137:A354T;ENSP00000339491:A354T;ENSP00000414273:A382T	ENSP00000329568:A354T	A	-	1	0	NLRP7	60142939	0.000000	0.05858	0.001000	0.08648	0.273000	0.26683	-0.015000	0.12634	-0.046000	0.13446	0.462000	0.41574	GCG		0.627	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		17	28	17	28	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29632660	29632660	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr20:29632660G>A	ENST00000278882.3	+	8	855	c.475G>A	c.(475-477)Gag>Aag	p.E159K	FRG1B_ENST00000358464.4_Missense_Mutation_p.E159K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	159										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAGTAAAGAAGAGAGTAAAAT	0.318																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(475-477)Gag>Aag																																						SO:0001583	missense	284802							g.chr20:29632660G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.475G>A	20.37:g.29632660G>A	ENSP00000278882:p.Glu159Lys					FRG1B_ENST00000358464.4_Missense_Mutation_p.E159K	p.E159K							8	855	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.475G>A		.	.	.	.	.	.	.	.	.	.	g	15.24	2.773512	0.49786	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.44	1.44	0.22558	.	0.051420	0.85682	U	0.000000	T	0.34366	0.0895	.	.	.	0.31644	N	0.647703	B	0.11235	0.004	B	0.12837	0.008	T	0.42982	-0.9419	8	0.59425	D	0.04	.	8.8673	0.35294	0.0:0.0:1.0:0.0	.	159	Q9BZ01	FRG1B_HUMAN	K	159	.	ENSP00000278882:E159K	E	+	1	0	FRG1B	28246321	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	6.446000	0.73460	1.120000	0.41904	0.398000	0.26397	GAG		0.318	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	623	6	623	---	---	---	---
APOBEC3F	200316	broad.mit.edu	37	22	39439011	39439011	+	Silent	SNP	T	T	G			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chr22:39439011T>G	ENST00000308521.5	+	2	444	c.87T>G	c.(85-87)cgT>cgG	p.R29R	APOBEC3F_ENST00000381565.2_Silent_p.R29R|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000491387.1_3'UTR	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	29					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TCCTTTCTCGTCGGAATACCG	0.488																																						ENST00000308521.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(85-87)cgT>cgG		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F							62.0	58.0	59.0					22																	39439011		2203	4297	6500	SO:0001819	synonymous_variant	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39439011T>G	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.87T>G	22.37:g.39439011T>G						APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Silent_p.R29R	p.R29R	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN			2	444	+	Melanoma(58;0.04)		29					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	ENST00000308521.5	37	c.87T>G	CCDS33648.1																																																																																				0.488	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		4	54	4	54	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70349255	70349255	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87J-01A-11D-A34U-08	TCGA-VP-A87J-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc7970c4-93d3-4646-9de0-8fd9c5d420d8	981257f9-1967-453d-8bd8-723f254f32c6	g.chrX:70349255G>C	ENST00000374080.3	+	26	3699	c.3667G>C	c.(3667-3669)Gtt>Ctt	p.V1223L	MED12_ENST00000374102.1_Missense_Mutation_p.V1223L|MED12_ENST00000333646.6_Missense_Mutation_p.V1223L			Q93074	MED12_HUMAN	mediator complex subunit 12	1223					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGTGTTTGCTGTTCTCAAGGC	0.572			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3667-3669)Gtt>Ctt		mediator complex subunit 12							50.0	52.0	51.0					X																	70349255		2088	4191	6279	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349255G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3667G>C	X.37:g.70349255G>C	ENSP00000363193:p.Val1223Leu		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374102.1_Missense_Mutation_p.V1223L|MED12_ENST00000374080.3_Missense_Mutation_p.V1223L	p.V1223L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3866	+	Renal(35;0.156)		1223					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3667G>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.557493	0.86231	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.72353	2.195	0.80722	D	1	P;D;P;P	0.53885	0.929;0.963;0.929;0.939	D;P;D;P	0.67231	0.95;0.859;0.95;0.863	T	0.59043	-0.7528	10	0.45353	T	0.12	-14.5208	17.9253	0.88982	0.0:0.0:1.0:0.0	.	1223;1070;1223;1223	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	1223;1223;1223;1223;1191	ENSP00000333125:V1223L;ENSP00000363215:V1223L;ENSP00000363193:V1223L;ENSP00000414203:V1191L	ENSP00000333125:V1223L	V	+	1	0	MED12	70265980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.509000	0.84616	0.529000	0.55759	GTT		0.572	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		18	3	18	3	---	---	---	---
