#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_ACHILLES_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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ARID1A	8289	broad.mit.edu	37	1	27056307	27056307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr1:27056307C>T	ENST00000324856.7	+	2	1674	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q52*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q435*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	435					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)	p.Q435*(1)	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)		GATGACCATGCAGGGCCGGGC	0.597			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																		uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Nonsense(1)		lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1303-1305)CAG>TAG		AT rich interactive domain 1A isoform a							42.0	46.0	44.0					1																	27056307		2203	4300	6503	SO:0001587	stop_gained	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.chr1:27056307C>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.1303C>T	1.37:g.27056307C>T	ENSP00000320485:p.Gln435*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q435*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q435*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q52*	p.Q435*	NM_006015	NP_006006	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)	2	1676	+		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)	435					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1303C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	37	6.285111	0.97440	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-7.1942	20.3771	0.98923	0.0:1.0:0.0:0.0	.	.	.	.	X	435;435;52;52	.	ENSP00000320485:Q435X	Q	+	1	0	ARID1A	26928894	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.406000	0.80017	2.824000	0.97209	0.650000	0.86243	CAG		0.597	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		13	19	0	0	0	0.105934	0	13	19				
DNA2	1763	broad.mit.edu	37	10	70192040	70192040	+	Missense_Mutation	SNP	C	C	T	rs201999986		TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr10:70192040C>T	ENST00000358410.3	-	12	1846	c.1796G>A	c.(1795-1797)cGt>cAt	p.R599H	DNA2_ENST00000399180.2_Missense_Mutation_p.R685H|DNA2_ENST00000399179.2_Missense_Mutation_p.R599H	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	599	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.R599H(1)|p.R685H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CTGAGGTTCACGAAAGTCAAT	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		18536	0.0		0.001	False		,,,				2504	0.0						uc001jof.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2053-2055)CGT>CAT		DNA replication helicase 2 homolog		C	HIS/ARG	1,3659		0,1,1829	130.0	125.0	126.0		1796	1.6	0.8	10		126	10,8154		0,10,4072	yes	missense	DNA2	NM_001080449.2	29	0,11,5901	TT,TC,CC		0.1225,0.0273,0.093	benign	599/1061	70192040	11,11813	1830	4082	5912	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70192040C>T	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1796G>A	10.37:g.70192040C>T	ENSP00000351185:p.Arg599His					DNA2_uc001jog.1_Missense_Mutation_p.R599H|DNA2_uc001joh.1_RNA	p.R685H	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN			12	2054	-			599					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.2054G>A		.	.	.	.	.	.	.	.	.	.	C	14.48	2.549230	0.45383	2.73E-4	0.001225	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;T;D	0.91945	-2.94;0.54;-2.91	5.9	1.58	0.23477	.	0.347519	0.32624	N	0.005850	D	0.87107	0.6095	L	0.45698	1.435	0.23661	N	0.997172	B;B	0.25206	0.017;0.12	B;B	0.18561	0.004;0.022	T	0.76833	-0.2813	10	0.52906	T	0.07	.	10.2132	0.43154	0.0:0.5826:0.0:0.4174	.	599;599	F8VR31;P51530	.;DNA2L_HUMAN	H	599;685;599;599	ENSP00000382133:R685H;ENSP00000382132:R599H;ENSP00000351185:R599H	ENSP00000351185:R599H	R	-	2	0	DNA2	69862046	0.002000	0.14202	0.750000	0.31169	0.992000	0.81027	0.144000	0.16135	0.010000	0.14839	0.558000	0.71614	CGT		0.343	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			33	102	0	0	0	0.173368	0	33	102				
TMTC1	83857	broad.mit.edu	37	12	29670381	29670381	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr12:29670381C>G	ENST00000539277.1	-	14	2206	c.2148G>C	c.(2146-2148)caG>caC	p.Q716H	TMTC1_ENST00000256062.5_Missense_Mutation_p.Q608H|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.Q740H|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000551659.1_Missense_Mutation_p.Q778H	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	716						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.Q608H(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGAGCTCCCTCTGAGAAGGCT	0.507																																							uc001rjb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1822-1824)CAG>CAC		transmembrane and tetratricopeptide repeat							132.0	128.0	129.0					12																	29670381		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29670381C>G		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2148G>C	12.37:g.29670381C>G	ENSP00000442046:p.Gln716His					TMTC1_uc001riz.2_Missense_Mutation_p.Q365H|TMTC1_uc001rja.2_Missense_Mutation_p.Q452H|TMTC1_uc001riy.2_Missense_Mutation_p.Q61H	p.Q608H	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			14	2298	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		716			TPR 7.		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1824G>C	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	8.323	0.824847	0.16678	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.51574	0.7;0.7;0.7;1.22	5.63	-8.23	0.01033	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.589459	0.19067	N	0.123620	T	0.19366	0.0465	N	0.13272	0.32	0.36432	D	0.864966	B;P;P	0.51240	0.102;0.943;0.697	B;P;B	0.44477	0.033;0.451;0.264	T	0.48433	-0.9036	9	.	.	.	-10.6472	1.758	0.02986	0.1297:0.3803:0.1991:0.2909	.	716;778;61	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	H	479;608;778;740;716	ENSP00000256062:Q608H;ENSP00000448112:Q778H;ENSP00000449043:Q740H;ENSP00000442046:Q716H	.	Q	-	3	2	TMTC1	29561648	0.706000	0.27856	0.350000	0.25708	0.313000	0.28021	-0.030000	0.12308	-1.199000	0.02666	-1.735000	0.00691	CAG		0.507	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		21	56	0	0	0	0.234183	0	21	56				
LRP1	4035	broad.mit.edu	37	12	57572723	57572723	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr12:57572723T>G	ENST00000243077.3	+	28	5123	c.4657T>G	c.(4657-4659)Tgt>Ggt	p.C1553G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1553	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.C1553G(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTCCCACCTGTGTCTCATCAA	0.617																																							uc001snd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(4657-4659)TGT>GGT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						97.0	96.0	97.0					12																	57572723		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572723T>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4657T>G	12.37:g.57572723T>G	ENSP00000243077:p.Cys1553Gly						p.C1553G	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	28	5123	+			1553			EGF-like 7.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4657T>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.356618	0.61293	.	.	ENSG00000123384	ENST00000243077	D	0.96913	-4.17	4.64	4.64	0.57946	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	H	0.98351	4.21	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.99143	1.0856	10	0.72032	D	0.01	.	13.4637	0.61241	0.0:0.0:0.0:1.0	.	1553	Q07954	LRP1_HUMAN	G	1553	ENSP00000243077:C1553G	ENSP00000243077:C1553G	C	+	1	0	LRP1	55858990	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.760000	0.85248	2.081000	0.62600	0.533000	0.62120	TGT		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		27	67	0	0	0	0.099896	0	27	67				
MPP5	64398	broad.mit.edu	37	14	67746041	67746041	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr14:67746041C>G	ENST00000261681.4	+	3	815	c.154C>G	c.(154-156)Cga>Gga	p.R52G	MPP5_ENST00000555925.1_Missense_Mutation_p.R18G|MPP5_ENST00000556345.1_Missense_Mutation_p.R52G	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	52	Interaction with PARD6B. {ECO:0000250}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.R52G(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		GCCAATACGTCGAAGTGCACA	0.478																																							uc001xjc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(154-156)CGA>GGA		membrane protein, palmitoylated 5							124.0	109.0	114.0					14																	67746041		2203	4300	6503	SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67746041C>G	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.154C>G	14.37:g.67746041C>G	ENSP00000261681:p.Arg52Gly					MPP5_uc001xjd.2_Missense_Mutation_p.R18G|MPP5_uc001xjb.1_Missense_Mutation_p.R52G	p.R52G	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	3	620	+			52			Interaction with PARD6B (By similarity).		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	c.154C>G	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738180	0.49045	.	.	ENSG00000072415	ENST00000261681;ENST00000556345;ENST00000555925;ENST00000557783	T;T	0.09630	2.96;3.02	5.66	3.75	0.43078	.	0.059871	0.64402	D	0.000002	T	0.24314	0.0589	L	0.43152	1.355	0.80722	D	1	P;D	0.63046	0.531;0.992	B;D	0.70487	0.172;0.969	T	0.00326	-1.1815	10	0.52906	T	0.07	.	14.4023	0.67056	0.2776:0.7224:0.0:0.0	.	52;52	Q8N3R9;G3V2B0	MPP5_HUMAN;.	G	52;52;18;18	ENSP00000261681:R52G;ENSP00000451488:R18G	ENSP00000261681:R52G	R	+	1	2	MPP5	66815794	0.870000	0.30015	0.950000	0.38849	0.994000	0.84299	1.689000	0.37700	0.662000	0.31006	0.563000	0.77884	CGA		0.478	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		16	43	0	0	0	0.146539	0	16	43				
THBS1	7057	broad.mit.edu	37	15	39880808	39880808	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr15:39880808T>G	ENST00000260356.5	+	10	1718	c.1553T>G	c.(1552-1554)cTc>cGc	p.L518R		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	518	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.L518R(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CGTAGTCGTCTCTGCAACAAC	0.522																																							uc001zkh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)	6						c.(1552-1554)CTC>CGC		thrombospondin 1 precursor	Becaplermin(DB00102)						96.0	92.0	93.0					15																	39880808		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39880808T>G		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1553T>G	15.37:g.39880808T>G	ENSP00000260356:p.Leu518Arg					THBS1_uc010bbi.2_5'UTR	p.L518R	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	10	1732	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	518			TSP type-1 3.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.1553T>G	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	T	33	5.275846	0.95459	.	.	ENSG00000137801	ENST00000260356	T	0.52754	0.65	5.87	5.87	0.94306	.	0.000000	0.32655	N	0.005812	T	0.57621	0.2066	L	0.41906	1.305	0.58432	D	0.999996	D	0.69078	0.997	D	0.63793	0.918	T	0.52313	-0.8592	10	0.27785	T	0.31	-27.5289	16.2577	0.82525	0.0:0.0:0.0:1.0	.	518	P07996	TSP1_HUMAN	R	518	ENSP00000260356:L518R	ENSP00000260356:L518R	L	+	2	0	THBS1	37668100	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.036000	0.88901	2.236000	0.73375	0.533000	0.62120	CTC		0.522	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		11	23	0	0	0	0.080935	0	11	23				
GRIN2A	2903	broad.mit.edu	37	16	10274214	10274214	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr16:10274214G>A	ENST00000396573.2	-	3	364	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	GRIN2A_ENST00000562109.1_Missense_Mutation_p.R19C|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R19C|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R19C|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R19C	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	19					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R19C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCGGACCGCGCCAGACCAGA	0.667																																							uc002czo.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(55-57)CGC>TGC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						15.0	18.0	17.0					16																	10274214		2180	4279	6459	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274214G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.55C>T	16.37:g.10274214G>A	ENSP00000379818:p.Arg19Cys					GRIN2A_uc010uym.1_Missense_Mutation_p.R19C|GRIN2A_uc002czr.3_Missense_Mutation_p.R19C|GRIN2A_uc010buk.2_Missense_Mutation_p.R19C	p.R19C	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			2	603	-			19					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.55C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336333	0.41398	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	T;T;T;T	0.11604	2.77;2.76;2.77;2.77	4.54	4.54	0.55810	.	0.517293	0.18094	N	0.151918	T	0.11196	0.0273	L	0.36672	1.1	0.80722	D	1	D;B;P	0.65815	0.995;0.006;0.955	P;B;B	0.47528	0.549;0.003;0.183	T	0.06197	-1.0840	9	.	.	.	.	7.8558	0.29480	0.09:0.1636:0.7464:0.0	.	19;19;19	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	C	19	ENSP00000379818:R19C;ENSP00000385872:R19C;ENSP00000332549:R19C;ENSP00000379820:R19C	.	R	-	1	0	GRIN2A	10181715	0.964000	0.33143	1.000000	0.80357	0.998000	0.95712	1.346000	0.33964	2.088000	0.63022	0.561000	0.74099	CGC		0.667	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			5	27	0	0	0	0.217242	0	5	27				
SNX29	92017	broad.mit.edu	37	16	12662416	12662416	+	Missense_Mutation	SNP	G	G	T	rs568097988	byFrequency	TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr16:12662416G>T	ENST00000566228.1	+	21	2441	c.2372G>T	c.(2371-2373)cGc>cTc	p.R791L	CTD-3037G24.3_ENST00000564505.1_RNA|SNX29_ENST00000306030.3_Missense_Mutation_p.R406L	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	791						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.R406L(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GCAGCTTCCCGCTTCCCCAAA	0.637																																							uc002dby.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1216-1218)CGC>CTC		sorting nexin 29							32.0	40.0	37.0					16																	12662416		1974	4184	6158	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12662416G>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2372G>T	16.37:g.12662416G>T	ENSP00000456480:p.Arg791Leu						p.R406L	NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN			14	1273	+			406					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.1217G>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768290	0.69878	.	.	ENSG00000048471	ENST00000306030	.	.	.	5.14	5.14	0.70334	.	0.078061	0.53938	D	0.000058	T	0.51534	0.1680	N	0.24115	0.695	0.80722	D	1	.	.	.	.	.	.	T	0.48305	-0.9047	7	0.28530	T	0.3	-9.9244	14.092	0.64998	0.0:0.0:1.0:0.0	.	.	.	.	L	406	.	ENSP00000306940:R406L	R	+	2	0	SNX29	12569917	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	5.447000	0.66606	2.378000	0.81104	0.561000	0.74099	CGC		0.637	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			8	37	1	0	0.000274275	0.047766	0.000284249	8	37				
CPPED1	55313	broad.mit.edu	37	16	12798545	12798545	+	Silent	SNP	G	G	A			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr16:12798545G>A	ENST00000381774.4	-	3	891	c.651C>T	c.(649-651)gaC>gaT	p.D217D	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	217	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.D217D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						AGTAGTAGTCGTCGTCCTCGT	0.607																																							uc002dca.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(649-651)GAC>GAT		calcineurin-like phosphoesterase domain							96.0	99.0	98.0					16																	12798545		2129	4251	6380	SO:0001819	synonymous_variant	55313						hydrolase activity|metal ion binding	g.chr16:12798545G>A	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.651C>T	16.37:g.12798545G>A						CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA	p.D217D	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			3	762	-			217					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Silent	SNP	ENST00000381774.4	37	c.651C>T	CCDS42120.1																																																																																				0.607	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		23	58	0	0	0	0.099896	0	23	58				
DNAH3	55567	broad.mit.edu	37	16	20996705	20996705	+	Silent	SNP	G	G	A			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr16:20996705G>A	ENST00000261383.3	-	48	7358	c.7359C>T	c.(7357-7359)taC>taT	p.Y2453Y	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2453	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.Y2453Y(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTATAGCTCGTATGCGTTCA	0.552																																							uc010vbe.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7357-7359)TAC>TAT		dynein, axonemal, heavy chain 3							63.0	46.0	52.0					16																	20996705		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20996705G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7359C>T	16.37:g.20996705G>A						DNAH3_uc010vbd.1_5'Flank	p.Y2453Y	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	48	7359	-			2453			AAA 4 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.7359C>T	CCDS10594.1																																																																																				0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		6	19	0	0	0	0.217242	0	6	19				
ERN2	10595	broad.mit.edu	37	16	23716365	23716365	+	Silent	SNP	G	G	T			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr16:23716365G>T	ENST00000457008.2	-	8	731	c.693C>A	c.(691-693)ggC>ggA	p.G231G	ERN2_ENST00000256797.4_Silent_p.G279G					endoplasmic reticulum to nucleus signaling 2									p.G279G(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGGTGTAGACGCCCATCACAG	0.677																																							uc002dma.3		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|lung(2)|ovary(2)	6						c.(835-837)GGC>GGA		endoplasmic reticulum to nucleus signalling 2							56.0	52.0	53.0					16																	23716365		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23716365G>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.693C>A	16.37:g.23716365G>T						ERN2_uc010bxp.2_Silent_p.G279G|ERN2_uc010bxq.1_Silent_p.G87G	p.G279G	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	8	1006	-			231			Lumenal (Potential).			Silent	SNP	ENST00000457008.2	37	c.837C>A																																																																																					0.677	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			11	27	1	0	1.58986e-06	0.069234	1.67819e-06	11	27				
ALDOA	226	broad.mit.edu	37	16	30078933	30078933	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr16:30078933G>A	ENST00000566897.1	+	6	1427	c.275G>A	c.(274-276)cGt>cAt	p.R92H	ALDOA_ENST00000569798.1_Missense_Mutation_p.R92H|ALDOA_ENST00000563060.2_Missense_Mutation_p.R92H|ALDOA_ENST00000395248.1_Missense_Mutation_p.R146H|ALDOA_ENST00000569545.1_Missense_Mutation_p.R92H|ALDOA_ENST00000564546.1_Missense_Mutation_p.R92H|ALDOA_ENST00000412304.2_Missense_Mutation_p.R92H|ALDOA_ENST00000564595.2_Missense_Mutation_p.R146H|ALDOA_ENST00000395240.3_Missense_Mutation_p.R92H|ALDOA_ENST00000338110.5_Missense_Mutation_p.R92H			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	92					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)	p.R92H(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GATGATGGGCGTCCCTTCCCC	0.582																																							uc002dvw.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(274-276)CGT>CAT		fructose-bisphosphate aldolase A							65.0	70.0	69.0					16																	30078933		2197	4300	6497	SO:0001583	missense	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30078933G>A	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.275G>A	16.37:g.30078933G>A	ENSP00000455724:p.Arg92His					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Missense_Mutation_p.R92H|ALDOA_uc002dvy.2_Missense_Mutation_p.R92H|ALDOA_uc002dvz.2_Missense_Mutation_p.R92H|ALDOA_uc002dwa.3_Missense_Mutation_p.R92H|ALDOA_uc002dwb.1_Missense_Mutation_p.R92H|ALDOA_uc002dwc.2_Missense_Mutation_p.R92H|ALDOA_uc010veg.1_Missense_Mutation_p.R146H|ALDOA_uc002dwd.2_Missense_Mutation_p.R92H	p.R92H	NM_184043	NP_908932	P04075	ALDOA_HUMAN			6	1403	+			92					B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	ENST00000566897.1	37	c.275G>A	CCDS10668.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302376	0.60195	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	5.54	5.54	0.83059	Aldolase-type TIM barrel (1);	0.195430	0.50627	D	0.000116	D	0.85053	0.5609	M	0.66297	2.02	0.43642	D	0.996048	B	0.06786	0.001	B	0.06405	0.002	T	0.81411	-0.0945	10	0.59425	D	0.04	.	18.2468	0.89989	0.0:0.0:1.0:0.0	.	92	P04075	ALDOA_HUMAN	H	146;92;92;92	ENSP00000378669:R146H;ENSP00000336927:R92H;ENSP00000400452:R92H;ENSP00000378661:R92H	ENSP00000336927:R92H	R	+	2	0	ALDOA	29986434	0.261000	0.24063	1.000000	0.80357	0.867000	0.49689	0.717000	0.25851	2.607000	0.88179	0.561000	0.74099	CGT		0.582	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		19	51	0	0	0	0.234183	0	19	51				
NECAB2	54550	broad.mit.edu	37	16	84035515	84035515	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr16:84035515G>A	ENST00000305202.4	+	12	1143	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	NECAB2_ENST00000565691.1_Missense_Mutation_p.V293M	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	376						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.V376M(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CAGGATCTTGGTGCCAGGTAG	0.637																																							uc002fhd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1126-1128)GTG>ATG		neuronal calcium-binding protein 2							41.0	37.0	38.0					16																	84035515		2200	4300	6500	SO:0001583	missense	54550				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	g.chr16:84035515G>A	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.1126G>A	16.37:g.84035515G>A	ENSP00000307449:p.Val376Met					NECAB2_uc002fhe.2_Missense_Mutation_p.V293M	p.V376M	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN			12	1143	+			376			ABM.		A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	c.1126G>A	CCDS10940.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491170	0.44249	.	.	ENSG00000103154	ENST00000305202	T	0.25579	1.79	5.09	4.13	0.48395	Dimeric alpha-beta barrel (1);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	M	0.66939	2.045	0.41102	D	0.985674	D	0.59767	0.986	P	0.50405	0.64	T	0.30268	-0.9984	10	0.66056	D	0.02	-14.0792	12.103	0.53796	0.0:0.0:0.8284:0.1716	.	376	Q7Z6G3	NECA2_HUMAN	M	376	ENSP00000307449:V376M	ENSP00000307449:V376M	V	+	1	0	NECAB2	82593016	1.000000	0.71417	0.849000	0.33467	0.270000	0.26580	3.842000	0.55858	1.133000	0.42147	0.561000	0.74099	GTG		0.637	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065		12	20	0	0	0	0.09319	0	12	20				
PPP1R1B	84152	broad.mit.edu	37	17	37785471	37785471	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr17:37785471C>T	ENST00000254079.4	+	2	599	c.130C>T	c.(130-132)Cac>Tac	p.H44Y	PPP1R1B_ENST00000580825.1_Missense_Mutation_p.H44Y|PPP1R1B_ENST00000394265.1_Missense_Mutation_p.H8Y|PPP1R1B_ENST00000394267.2_Missense_Mutation_p.H8Y|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.H44Y	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	44					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)	p.H44Y(1)		kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTCTCAGAGCACTCCTCACC	0.637																																							uc002hrz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(130-132)CAC>TAC		protein phosphatase 1, regulatory (inhibitor)							63.0	62.0	62.0					17																	37785471		2203	4300	6503	SO:0001583	missense	84152				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	g.chr17:37785471C>T	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9287	protein-coding gene	gene with protein product	"""dopamine and cAMP regulated phosphoprotein"""	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.130C>T	17.37:g.37785471C>T	ENSP00000254079:p.His44Tyr					PPP1R1B_uc002hsa.2_Missense_Mutation_p.H44Y|PPP1R1B_uc010cvx.2_Missense_Mutation_p.H44Y|PPP1R1B_uc002hsb.2_Missense_Mutation_p.H8Y|PPP1R1B_uc002hsc.2_Missense_Mutation_p.H8Y	p.H44Y	NM_032192	NP_115568	Q9UD71	PPR1B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	597	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		44					Q547V9|Q547W0|Q9H7G1	Missense_Mutation	SNP	ENST00000254079.4	37	c.130C>T	CCDS11339.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447133	0.43429	.	.	ENSG00000131771	ENST00000254079;ENST00000357165;ENST00000394271;ENST00000394267;ENST00000394265	T;T;T	0.31769	1.48;1.48;1.48	5.41	5.41	0.78517	.	0.138178	0.48767	D	0.000164	T	0.50411	0.1614	L	0.53249	1.67	0.38087	D	0.936849	D;D;D	0.63880	0.982;0.993;0.982	D;D;D	0.72338	0.956;0.936;0.977	T	0.54589	-0.8271	10	0.66056	D	0.02	-9.8227	14.7042	0.69176	0.0:1.0:0.0:0.0	.	44;44;44	B3KVQ9;E7ENN5;Q9UD71	.;.;PPR1B_HUMAN	Y	44;44;44;8;8	ENSP00000254079:H44Y;ENSP00000377810:H8Y;ENSP00000377808:H8Y	ENSP00000254079:H44Y	H	+	1	0	PPP1R1B	35038997	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.513000	0.60476	2.533000	0.85409	0.561000	0.74099	CAC		0.637	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192		37	56	0	0	0	0.257332	0	37	56				
DHX58	79132	broad.mit.edu	37	17	40257096	40257096	+	Silent	SNP	G	G	A			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr17:40257096G>A	ENST00000251642.3	-	10	1563	c.1341C>T	c.(1339-1341)atC>atT	p.I447I		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	447	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.I447I(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGCAATGTGGGATGTCCAGCC	0.557																																							uc002hyw.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1339-1341)ATC>ATT		RNA helicase LGP2							77.0	72.0	73.0					17																	40257096		2203	4300	6503	SO:0001819	synonymous_variant	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40257096G>A	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1341C>T	17.37:g.40257096G>A						DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Silent_p.I440I	p.I447I	NM_024119	NP_077024	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1564	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	447			Helicase C-terminal.		Q9HAM6	Silent	SNP	ENST00000251642.3	37	c.1341C>T	CCDS11416.1																																																																																				0.557	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		4	41	0	0	0	0.217242	0	4	41				
CCDC178	374864	broad.mit.edu	37	18	30928852	30928852	+	Splice_Site	SNP	A	A	G	rs140419270	byFrequency	TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr18:30928852A>G	ENST00000383096.3	-	8	640		c.e8+1		CCDC178_ENST00000300227.8_Splice_Site|CCDC178_ENST00000403303.1_Splice_Site|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Splice_Site|CCDC178_ENST00000579947.1_Splice_Site|CCDC178_ENST00000583930.1_Splice_Site|CCDC178_ENST00000402325.1_Splice_Site			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178									p.?(2)									GAACAACTTTACCTCTCTTTT	0.323													A|||	8	0.00159744	0.0	0.0029	5008	,	,		15391	0.0		0.005	False		,,,				2504	0.001						uc002kxn.2		NA																	2	Unknown(2)		lung(2)	ovary(1)	1						c.e7+1		hypothetical protein LOC374864 isoform 1		A	,	5,4401	9.9+/-24.2	0,5,2198	132.0	111.0	118.0		,	4.2	0.8	18	dbSNP_134	118	31,8569	21.6+/-65.8	0,31,4269	yes	splice-5,splice-5	C18orf34	NM_001105528.1,NM_198995.2	,	0,36,6467	GG,GA,AA		0.3605,0.1135,0.2768	,	,	30928852	36,12970	2203	4300	6503	SO:0001630	splice_region_variant	374864							g.chr18:30928852A>G	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.457+1T>C	18.37:g.30928852A>G						C18orf34_uc010xbr.1_Splice_Site_p.D153_splice|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Splice_Site_p.D153_splice|C18orf34_uc002kxp.2_Splice_Site_p.D153_splice	p.D153_splice	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			7	599	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Splice_Site	SNP	ENST00000383096.3	37	c.457_splice	CCDS42424.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	A	12.87	2.068210	0.36470	0.001135	0.003605	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0289	0.42087	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C18orf34	29182850	0.994000	0.37717	0.791000	0.31998	0.061000	0.15899	3.552000	0.53705	2.144000	0.66660	0.533000	0.62120	.		0.323	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	Intron	3	17	0	0	0	0.115264	0	3	17				
COL5A3	50509	broad.mit.edu	37	19	10080323	10080323	+	Silent	SNP	C	C	T			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr19:10080323C>T	ENST00000264828.3	-	56	4111	c.4026G>A	c.(4024-4026)acG>acA	p.T1342T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1342	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.T1342T(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCATTGGACCCGTCCTCCCTG	0.682																																							uc002mmq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(4024-4026)ACG>ACA		collagen, type V, alpha 3 preproprotein							16.0	19.0	18.0					19																	10080323		2202	4295	6497	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10080323C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4026G>A	19.37:g.10080323C>T							p.T1342T	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		56	4112	-			1342			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.4026G>A	CCDS12222.1																																																																																				0.682	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		5	19	0	0	0	0.184627	0	5	19				
TEX101	83639	broad.mit.edu	37	19	43922333	43922333	+	Silent	SNP	G	G	A	rs151129496		TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr19:43922333G>A	ENST00000598265.1	+	6	700	c.534G>A	c.(532-534)tcG>tcA	p.S178S	TEX101_ENST00000253435.7_Silent_p.S196S|TEX101_ENST00000602198.1_Silent_p.S196S|TEX101_ENST00000601707.1_3'UTR	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	178	UPAR/Ly6.					acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S196S(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GCATTGAGTCGTCTGTGGAGG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19962	0.001		0.0	False		,,,				2504	0.0						uc010xwo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(532-534)TCG>TCA		testis expressed 101 isoform 2		G	,	1,4405	2.1+/-5.4	0,1,2202	96.0	91.0	93.0		534,588	-8.6	0.0	19	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TEX101	NM_001130011.1,NM_031451.4	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	178/250,196/268	43922333	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83639					anchored to membrane|plasma membrane		g.chr19:43922333G>A	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.534G>A	19.37:g.43922333G>A						TEX101_uc002owk.2_Silent_p.S196S	p.S178S	NM_001130011	NP_001123483	Q9BY14	TX101_HUMAN			6	729	+		Prostate(69;0.0199)	178					Q7L5R2|Q9BPY7	Silent	SNP	ENST00000598265.1	37	c.534G>A	CCDS59393.1																																																																																				0.522	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		27	75	0	0	0	0.099896	0	27	75				
ATAD2B	54454	broad.mit.edu	37	2	24103532	24103532	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr2:24103532T>A	ENST00000238789.5	-	7	1221	c.878A>T	c.(877-879)gAt>gTt	p.D293V		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	293						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.D293V(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGTATCGATCCACTGTTTT	0.363																																							uc002rek.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(877-879)GAT>GTT		ATPase family, AAA domain containing 2B							175.0	155.0	161.0					2																	24103532		1866	4100	5966	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24103532T>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.878A>T	2.37:g.24103532T>A	ENSP00000238789:p.Asp293Val					ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Missense_Mutation_p.D307V	p.D293V	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			7	1172	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		293					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.878A>T	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.210441	0.79240	.	.	ENSG00000119778	ENST00000238789;ENST00000442596;ENST00000439915	D;T	0.90620	-2.7;1.13	5.02	5.02	0.67125	.	.	.	.	.	D	0.85835	0.5789	N	0.04686	-0.185	0.58432	D	0.999999	P;B	0.51791	0.948;0.001	P;B	0.53185	0.72;0.005	D	0.86378	0.1727	9	0.30854	T	0.27	.	15.0669	0.72002	0.0:0.0:0.0:1.0	.	307;293	C9JG15;Q9ULI0	.;ATD2B_HUMAN	V	293;145;307	ENSP00000238789:D293V;ENSP00000403177:D307V	ENSP00000238789:D293V	D	-	2	0	ATAD2B	23957036	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.896000	0.75665	2.034000	0.60081	0.528000	0.53228	GAT		0.363	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		7	12	0	0	0	0.248553	0	7	12				
FSHR	2492	broad.mit.edu	37	2	49195904	49195904	+	Missense_Mutation	SNP	C	C	T	rs372147824		TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr2:49195904C>T	ENST00000406846.2	-	9	906	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.A237T|FSHR_ENST00000346173.3_Intron	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	263					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.A263T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCCATGAGGGCGACAAGCTTT	0.498									Gonadal Dysgenesis, 46 XX																														uc002rww.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(787-789)GCC>ACC		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	C	THR/ALA,THR/ALA	0,4406		0,0,2203	96.0	92.0	93.0		787,709	-2.0	0.0	2		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FSHR	NM_000145.3,NM_181446.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	263/696,237/670	49195904	1,13005	2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49195904C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.787G>A	2.37:g.49195904C>T	ENSP00000384708:p.Ala263Thr					FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Missense_Mutation_p.A237T	p.A263T	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	861	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	263			Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.787G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	9.225	1.034385	0.19590	0.0	1.16E-4	ENSG00000170820	ENST00000406846;ENST00000304421	T;T	0.70399	-0.48;-0.48	5.45	-2.04	0.07343	.	1.520870	0.03596	N	0.232651	T	0.53642	0.1809	L	0.28192	0.835	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.19647	-1.0299	9	.	.	.	.	4.6356	0.12523	0.3824:0.3261:0.0:0.2915	.	237;263	Q05AH0;P23945	.;FSHR_HUMAN	T	263;237	ENSP00000384708:A263T;ENSP00000306780:A237T	.	A	-	1	0	FSHR	49049408	0.000000	0.05858	0.000000	0.03702	0.614000	0.37383	-0.004000	0.12878	-0.578000	0.05959	0.655000	0.94253	GCC		0.498	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			15	41	0	0	0	0.11911	0	15	41				
PROKR1	10887	broad.mit.edu	37	2	68882446	68882446	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr2:68882446G>A	ENST00000303786.3	+	3	1340	c.920G>A	c.(919-921)cGc>cAc	p.R307H	PROKR1_ENST00000394342.2_Missense_Mutation_p.R307H			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	307					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.R307H(2)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACCATCGTGCGCGACTTCTTC	0.577																																							uc010yqj.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(919-921)CGC>CAC		G protein-coupled receptor 73							155.0	114.0	128.0					2																	68882446		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882446G>A	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.920G>A	2.37:g.68882446G>A	ENSP00000303775:p.Arg307His					PROKR1_uc002ses.2_RNA	p.R307H	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN			2	920	+			307			Extracellular (Potential).		A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.920G>A	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040426	0.93630	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.72505	-0.66;-0.66	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81781	0.4895	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76462	-0.2950	10	0.15066	T	0.55	.	15.9178	0.79535	0.0:0.0:1.0:0.0	.	307	Q8TCW9	PKR1_HUMAN	H	307	ENSP00000303775:R307H;ENSP00000377874:R307H	ENSP00000303775:R307H	R	+	2	0	PROKR1	68735950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.297000	0.96120	2.884000	0.98904	0.655000	0.94253	CGC		0.577	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			14	34	0	0	0	0.11911	0	14	34				
EGR4	1961	broad.mit.edu	37	2	73518784	73518784	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr2:73518784C>T	ENST00000545030.1	-	2	1645	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	EGR4_ENST00000436467.2_Missense_Mutation_p.R421H	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	524					cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R524H(2)|p.R421H(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGGTCGCTGCGGCTGAAGTT	0.657																																							uc010yrj.1		NA																	4	Substitution - Missense(4)		lung(2)|endometrium(2)		0						c.(1570-1572)CGC>CAC		early growth response 4							60.0	57.0	58.0					2																	73518784		2203	4299	6502	SO:0001583	missense	1961					intracellular	nucleic acid binding|zinc ion binding	g.chr2:73518784C>T		CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"""Zinc fingers, C2H2-type"""	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1571G>A	2.37:g.73518784C>T	ENSP00000445626:p.Arg524His					EGR4_uc010yrk.1_Missense_Mutation_p.R523H	p.R524H	NM_001965	NP_001956	Q05215	EGR4_HUMAN			2	1646	-			420					B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	ENST00000545030.1	37	c.1571G>A	CCDS1925.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809127	0.90707	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.07327	3.2;3.2	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.21022	0.0506	L	0.37697	1.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.00742	-1.1585	10	0.87932	D	0	-19.7486	16.5595	0.84535	0.0:1.0:0.0:0.0	.	421;524	Q05215;G3V1T5	EGR4_HUMAN;.	H	524;421	ENSP00000445626:R524H;ENSP00000419687:R421H	ENSP00000419687:R421H	R	-	2	0	EGR4	73372292	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.610000	0.82949	2.478000	0.83669	0.655000	0.94253	CGC		0.657	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001965		11	43	0	0	0	0.080935	0	11	43				
TTN	7273	broad.mit.edu	37	2	179437059	179437059	+	Silent	SNP	G	G	A			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr2:179437059G>A	ENST00000591111.1	-	276	69101	c.68877C>T	c.(68875-68877)ggC>ggT	p.G22959G	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G22032G|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Silent_p.G24600G|TTN_ENST00000342175.6_Silent_p.G15727G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.G15660G|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.G15535G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22959	Fibronectin type-III 66. {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)	p.G22030G(1)|p.G15660G(1)|p.G15535G(1)|p.G22032G(1)|p.G15727G(1)		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)			GCAGCCCAATGCCATATTCAT	0.448																																							uc010zfg.1		NA																	5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(66094-66096)GGC>GGT		titin isoform N2-A							79.0	74.0	76.0					2																	179437059		1910	4128	6038	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437059G>A	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.68877C>T	2.37:g.179437059G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G15727G|TTN_uc010zfi.1_Silent_p.G15660G|TTN_uc010zfj.1_Silent_p.G15535G	p.G22032G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	66320	-			22959					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	Silent	SNP	ENST00000591111.1	37	c.66096C>T																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	33	0	0	0	0.132662	0	16	33				
COL6A3	1293	broad.mit.edu	37	2	238289959	238289959	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr2:238289959A>G	ENST00000295550.4	-	5	1948	c.1496T>C	c.(1495-1497)tTc>tCc	p.F499S	COL6A3_ENST00000392003.2_Missense_Mutation_p.F92S|COL6A3_ENST00000347401.3_Missense_Mutation_p.F298S|COL6A3_ENST00000353578.4_Missense_Mutation_p.F293S|COL6A3_ENST00000392004.3_Missense_Mutation_p.F293S|COL6A3_ENST00000346358.4_Missense_Mutation_p.F499S|COL6A3_ENST00000472056.1_Missense_Mutation_p.F92S|COL6A3_ENST00000409809.1_Missense_Mutation_p.F293S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	499	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F499S(1)|p.F293S(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATGGGTATTGAAATAAAATTC	0.502																																							uc002vwl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(1495-1497)TTC>TCC		alpha 3 type VI collagen isoform 1 precursor							97.0	103.0	101.0					2																	238289959		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238289959A>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1496T>C	2.37:g.238289959A>G	ENSP00000295550:p.Phe499Ser					COL6A3_uc002vwo.2_Missense_Mutation_p.F293S|COL6A3_uc010znj.1_Missense_Mutation_p.F92S|COL6A3_uc002vwq.2_Missense_Mutation_p.F293S|COL6A3_uc002vwr.2_Missense_Mutation_p.F92S|COL6A3_uc010znk.1_Missense_Mutation_p.F499S	p.F499S	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	5	1781	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	499			VWFA 3.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.1496T>C	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055968	0.76074	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.114508	0.39020	N	0.001481	D	0.92384	0.7583	M	0.84773	2.715	0.23624	N	0.99726	P;D;P;P;D;P	0.71674	0.939;0.996;0.862;0.862;0.998;0.896	P;D;P;P;D;P	0.72338	0.697;0.977;0.723;0.799;0.974;0.697	D	0.86630	0.1885	10	0.31617	T	0.26	.	15.5998	0.76616	1.0:0.0:0.0:0.0	.	499;92;92;293;293;499	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	S	499;298;293;92;293;499;293;92;499	ENSP00000295550:F499S;ENSP00000315609:F298S;ENSP00000315873:F293S;ENSP00000418285:F92S;ENSP00000386844:F293S;ENSP00000295546:F499S;ENSP00000375861:F293S;ENSP00000375860:F92S;ENSP00000389539:F499S	ENSP00000295550:F499S	F	-	2	0	COL6A3	237954698	1.000000	0.71417	0.995000	0.50966	0.304000	0.27724	9.262000	0.95591	2.078000	0.62432	0.533000	0.62120	TTC		0.502	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		39	118	0	0	0	0.268233	0	39	118				
EYA2	2139	broad.mit.edu	37	20	45808545	45808545	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr20:45808545A>G	ENST00000327619.5	+	13	1672	c.1298A>G	c.(1297-1299)aAc>aGc	p.N433S	EYA2_ENST00000357410.3_Intron|EYA2_ENST00000317304.6_Missense_Mutation_p.N403S	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	433					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.N433S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AAGGCACTAAACCTCATCAAC	0.567																																					Pancreas(120;56 1725 18501 25218 43520)	Pancreas(120;56 1725 18501 25218 43520)	uc002xsm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1297-1299)AAC>AGC		eyes absent 2 isoform a							71.0	59.0	63.0					20																	45808545		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45808545A>G		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1298A>G	20.37:g.45808545A>G	ENSP00000333640:p.Asn433Ser					EYA2_uc010ghp.2_Intron|EYA2_uc002xsn.2_Missense_Mutation_p.N438S|EYA2_uc002xso.2_Missense_Mutation_p.N433S|EYA2_uc002xsp.2_Missense_Mutation_p.N433S|EYA2_uc002xsq.2_Missense_Mutation_p.N403S	p.N433S	NM_005244	NP_005235	O00167	EYA2_HUMAN			13	1672	+		Myeloproliferative disorder(115;0.0241)	433					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.1298A>G	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	A	4.404	0.074589	0.08485	.	.	ENSG00000064655	ENST00000327619;ENST00000484200;ENST00000317304	T;T	0.77750	-1.12;-1.12	5.46	3.13	0.36017	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.152050	0.64402	D	0.000016	T	0.61324	0.2338	N	0.25957	0.775	0.36079	D	0.842665	B;B;B	0.28933	0.204;0.228;0.119	B;B;B	0.31101	0.124;0.037;0.026	T	0.56992	-0.7887	10	0.02654	T	1	-19.3857	12.1826	0.54220	0.7068:0.2932:0.0:0.0	.	403;433;433	E7ETN2;A8KAG7;O00167	.;.;EYA2_HUMAN	S	433;403;403	ENSP00000333640:N433S;ENSP00000321590:N403S	ENSP00000321590:N403S	N	+	2	0	EYA2	45241952	1.000000	0.71417	0.927000	0.36925	0.994000	0.84299	4.623000	0.61247	0.350000	0.24002	0.454000	0.30748	AAC		0.567	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		6	14	0	0	0	0.248553	0	6	14				
PCK1	5105	broad.mit.edu	37	20	56137755	56137755	+	Missense_Mutation	SNP	G	G	A	rs150560473		TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr20:56137755G>A	ENST00000319441.4	+	4	574	c.410G>A	c.(409-411)cGc>cAc	p.R137H	PCK1_ENST00000535860.1_Missense_Mutation_p.R5H|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	137					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.R137H(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGTAGGTCGCACCATGTAC	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17826	0.0		0.0	False		,,,				2504	0.0						uc002xyn.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(409-411)CGC>CAC		cytosolic phosphoenolpyruvate carboxykinase 1		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	57.0	43.0	48.0		410	5.3	1.0	20	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PCK1	NM_002591.3	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	137/623	56137755	3,13003	2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137755G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.410G>A	20.37:g.56137755G>A	ENSP00000319814:p.Arg137His					PCK1_uc010zzm.1_Intron	p.R137H	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		4	573	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		137					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.410G>A	CCDS13460.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.374430	0.95923	4.54E-4	1.16E-4	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.20069	2.1;2.1	5.27	5.27	0.74061	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.100333	0.64402	D	0.000002	T	0.66036	0.2749	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.80859	-0.1194	10	0.87932	D	0	-37.7485	19.2604	0.93966	0.0:0.0:1.0:0.0	.	137	P35558	PCKGC_HUMAN	H	137;5	ENSP00000319814:R137H;ENSP00000444342:R5H	ENSP00000319814:R137H	R	+	2	0	PCK1	55571161	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.015000	0.93640	2.630000	0.89119	0.655000	0.94253	CGC		0.562	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			9	18	0	0	0	0.047766	0	9	18				
CAMK1	8536	broad.mit.edu	37	3	9801424	9801424	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr3:9801424G>T	ENST00000256460.3	-	9	933	c.756C>A	c.(754-756)ttC>ttA	p.F252L	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.F252L(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		AGTGCCGGATGAAATCTTTGG	0.522																																							uc003bst.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(754-756)TTC>TTA		calcium/calmodulin-dependent protein kinase I							128.0	126.0	127.0					3																	9801424		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9801424G>T	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.756C>A	3.37:g.9801424G>T	ENSP00000256460:p.Phe252Leu					OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_Missense_Mutation_p.F26L|uc003bsv.1_5'Flank	p.F252L	NM_003656	NP_003647	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	9	934	-	Medulloblastoma(99;0.227)		252			Protein kinase.		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.756C>A	CCDS2582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.91|13.91	2.378860|2.378860	0.42207|0.42207	.|.	.|.	ENSG00000134072|ENSG00000134072	ENST00000256460|ENST00000421120	T|.	0.59224|.	0.28|.	5.71|5.71	3.68|3.68	0.42216|0.42216	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.23926|0.23926	0.0579|0.0579	N|N	0.04260|0.04260	-0.245|-0.245	0.80722|0.80722	D|D	1|1	D;D|.	0.65815|.	0.995;0.995|.	D;D|.	0.67900|.	0.954;0.954|.	T|T	0.05241|0.05241	-1.0897|-1.0897	10|5	0.21014|.	T|.	0.42|.	-17.4352|-17.4352	6.5504|6.5504	0.22431|0.22431	0.3166:0.0:0.6834:0.0|0.3166:0.0:0.6834:0.0	.|.	252;252|.	Q14012;B0YIY3|.	KCC1A_HUMAN;.|.	L|N	252|99	ENSP00000256460:F252L|.	ENSP00000256460:F252L|.	F|H	-|-	3|1	2|0	CAMK1|CAMK1	9776424|9776424	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.204000|0.204000	0.17335|0.17335	1.413000|1.413000	0.46997|0.46997	0.655000|0.655000	0.94253|0.94253	TTC|CAT		0.522	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		56	130	1	0	4.6707e-30	0.139131	5.0232e-30	56	130				
SCN10A	6336	broad.mit.edu	37	3	38791573	38791573	+	Missense_Mutation	SNP	C	C	T	rs151303346	byFrequency	TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr3:38791573C>T	ENST00000449082.2	-	12	1857	c.1858G>A	c.(1858-1860)Gtc>Atc	p.V620I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	620					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V620I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCCTCAAGGACGGAGGTTATG	0.458																																							uc003ciq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(1858-1860)GTC>ATC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	C	ILE/VAL	5,4401	9.9+/-24.2	0,5,2198	165.0	135.0	145.0		1858	4.6	0.8	3	dbSNP_134	145	0,8600		0,0,4300	yes	missense	SCN10A	NM_006514.2	29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging	620/1957	38791573	5,13001	2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38791573C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1858G>A	3.37:g.38791573C>T	ENSP00000390600:p.Val620Ile						p.V620I	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	12	1858	-			620					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1858G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223306	0.39300	0.001135	0.0	ENSG00000185313	ENST00000449082	D	0.95788	-3.81	5.47	4.6	0.57074	.	0.287399	0.32935	N	0.005478	D	0.94522	0.8236	N	0.20845	0.615	0.48975	D	0.999737	D	0.76494	0.999	D	0.75484	0.986	D	0.92941	0.6372	10	0.28530	T	0.3	.	11.6116	0.51062	0.0:0.919:0.0:0.081	.	620	Q9Y5Y9	SCNAA_HUMAN	I	620	ENSP00000390600:V620I	ENSP00000390600:V620I	V	-	1	0	SCN10A	38766577	0.990000	0.36364	0.818000	0.32626	0.405000	0.30901	2.642000	0.46596	1.552000	0.49463	0.655000	0.94253	GTC		0.458	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		6	16	0	0	0	0.248553	0	6	16				
CTNNB1	1499	broad.mit.edu	37	3	41266137	41266137	+	Missense_Mutation	SNP	C	C	T	rs121913409		TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr3:41266137C>T	ENST00000349496.5	+	3	414	c.134C>T	c.(133-135)tCt>tTt	p.S45F	CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer). {ECO:0000269|PubMed:9065402}.|S -> F (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> P (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S45F(384)|p.S45del(53)|p.A5_A80del(53)|p.S45C(19)|p.S45Y(17)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.S45_S47>C(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.S45fs*2(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ACAGCTCCTTCTCTGAGTGGT	0.498	S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	Colon(6;3 56 14213 18255)	uc010hia.1	S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE)	15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	601	Substitution - Missense(421)|Deletion - In frame(152)|Complex - deletion inframe(20)|Unknown(7)|Deletion - Frameshift(1)	p.S45F(396)|p.S45P(163)|p.S45del(79)|p.A5_A80del(63)|p.S45Y(21)|p.S45C(18)|p.S45A(10)|p.H24_S47del(9)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_L139>V(2)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q72del(1)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.A43_E54del(1)|p.S45_S47>C(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.A5_G80>(1)|p.Q28_Q61del(1)|p.D6_K133del(1)|p.A43_E53del(1)|p.M8_G50del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.A5_D144>D(1)|p.P44_N51del(1)|p.P44_S45>AP(1)|p.V22_G80>NNNNN(1)|p.V22_A80del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.S45fs*2(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.W25_A80del(1)|p.A5_R90del(1)|p.H24_M131del(1)|p.S45E(1)|p.A20_R151del(1)|p.D17_A126del(1)|p.M8_A80del(1)|p.P44_S45insGATTTAP(1)|p.K19_Y142>V(1)|p.A5_E54del(1)|p.L7_I140del(1)|p.S45T(1)|p.A21_A80del(1)|p.E9_I140del(1)|p.S45S(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.G38_S45del(1)|p.E9_A80del(1)|p.D6_I140del(1)|p.S23_I140del(1)|p.A20_L148del(1)|p.Q28_I140del(1)|p.S45_E54del(1)|p.A20_Q72del(1)|p.D17_P128del(1)|p.A20_S111del(1)|p.E9_S47del(1)|p.Y30_A80del(1)	soft_tissue(233)|liver(141)|large_intestine(85)|kidney(74)|endometrium(16)|skin(11)|adrenal_gland(9)|stomach(7)|biliary_tract(5)|ovary(4)|lung(3)|central_nervous_system(2)|cervix(2)|small_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(1)|pituitary(1)|prostate(1)|bone(1)|pancreas(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(133-135)TCT>TTT		beta-catenin	Lithium(DB01356)						84.0	74.0	77.0					3																	41266137		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266137C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.134C>T	3.37:g.41266137C>T	ENSP00000344456:p.Ser45Phe					CTNNB1_uc003ckp.2_Missense_Mutation_p.S45F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S45F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S45F|CTNNB1_uc011azf.1_Missense_Mutation_p.S38F|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	p.S45F	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	4	290	+			45		Missing (in colorectal cancer).|S -> P (in hepatocellular carcinoma).|S -> F (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.134C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569754	0.86439	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68165	0.2971	M	0.65677	2.01	0.80722	D	1	D	0.67145	0.996	D	0.64687	0.928	T	0.68895	-0.5288	10	0.87932	D	0	-13.6823	20.2983	0.98569	0.0:1.0:0.0:0.0	.	45	P35222	CTNB1_HUMAN	F	38;45;45;45;45;38;45;45;45	ENSP00000400508:S38F;ENSP00000385604:S45F;ENSP00000412219:S45F;ENSP00000379486:S45F;ENSP00000344456:S45F;ENSP00000411226:S38F;ENSP00000379488:S45F;ENSP00000409302:S45F;ENSP00000401599:S45F	ENSP00000344456:S45F	S	+	2	0	CTNNB1	41241141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	TCT		0.498	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		9	32	0	0	0	0.058154	0	9	32				
SNRK	54861	broad.mit.edu	37	3	43381980	43381980	+	Silent	SNP	C	C	T	rs201718634		TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr3:43381980C>T	ENST00000296088.7	+	5	1237	c.933C>T	c.(931-933)gaC>gaT	p.D311D	SNRK_ENST00000437827.1_Silent_p.D105D|SNRK_ENST00000454177.1_Silent_p.D311D|SNRK_ENST00000429705.2_Silent_p.D311D	NM_017719.4	NP_060189.3			SNF related kinase									p.D311D(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CGGATCGAGACGCCATTGTAG	0.488																																							uc003cms.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|stomach(1)|breast(1)|skin(1)	6						c.(931-933)GAC>GAT		SNF related kinase		C	,	0,4034		0,0,2017	47.0	47.0	47.0		933,933	-2.7	1.0	3		47	1,8349		0,1,4174	no	coding-synonymous,coding-synonymous	SNRK	NM_001100594.1,NM_017719.4	,	0,1,6191	TT,TC,CC		0.012,0.0,0.0081	,	311/766,311/766	43381980	1,12383	2017	4175	6192	SO:0001819	synonymous_variant	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43381980C>T	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.933C>T	3.37:g.43381980C>T						SNRK_uc003cmt.3_Silent_p.D311D|SNRK_uc010hik.2_Silent_p.D311D|SNRK_uc011azr.1_Silent_p.D105D	p.D311D	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	5	1265	+			311			UBA.			Silent	SNP	ENST00000296088.7	37	c.933C>T	CCDS43075.1																																																																																				0.488	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		8	21	0	0	0	0.058154	0	8	21				
BSN	8927	broad.mit.edu	37	3	49693126	49693126	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr3:49693126G>A	ENST00000296452.4	+	5	6251	c.6137G>A	c.(6136-6138)cGt>cAt	p.R2046H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2046					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.R2046H(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACGGACCTGCGTCATCCTACA	0.587																																							uc003cxe.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(6136-6138)CGT>CAT		bassoon protein							152.0	136.0	142.0					3																	49693126		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49693126G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6137G>A	3.37:g.49693126G>A	ENSP00000296452:p.Arg2046His						p.R2046H	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	6251	+			2046					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.6137G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319744	0.60524	.	.	ENSG00000164061	ENST00000296452	T	0.36157	1.27	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.60650	0.2285	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64253	-0.6451	10	0.72032	D	0.01	-7.6586	18.5205	0.90950	0.0:0.0:1.0:0.0	.	2046	Q9UPA5	BSN_HUMAN	H	2046	ENSP00000296452:R2046H	ENSP00000296452:R2046H	R	+	2	0	BSN	49668130	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.860000	0.99555	2.380000	0.81148	0.561000	0.74099	CGT		0.587	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		25	97	0	0	0	0.116897	0	25	97				
BOC	91653	broad.mit.edu	37	3	112998136	112998136	+	Silent	SNP	C	C	T			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr3:112998136C>T	ENST00000495514.1	+	12	2558	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Silent_p.S618S|BOC_ENST00000273395.4_Silent_p.S619S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	618	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.S618S(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCACGGCCTCCGAGACCTCAG	0.572																																							uc003dzx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(1852-1854)TCC>TCT		brother of CDO precursor							77.0	68.0	71.0					3																	112998136		2203	4300	6503	SO:0001819	synonymous_variant	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112998136C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1854C>T	3.37:g.112998136C>T						BOC_uc003dzy.2_Silent_p.S618S|BOC_uc003dzz.2_Silent_p.S619S|BOC_uc003eab.2_Silent_p.S319S|BOC_uc003eac.2_5'Flank	p.S618S	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		12	2475	+			618			Fibronectin type-III 2.|Extracellular (Potential).		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	c.1854C>T	CCDS2971.1																																																																																				0.572	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		12	23	0	0	0	0.09319	0	12	23				
ADCY5	111	broad.mit.edu	37	3	123021953	123021953	+	Silent	SNP	G	G	A			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr3:123021953G>A	ENST00000462833.1	-	14	3885	c.2673C>T	c.(2671-2673)ggC>ggT	p.G891G	ADCY5_ENST00000491190.1_Silent_p.G524G|ADCY5_ENST00000309879.5_Silent_p.G541G	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	891					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.G891G(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCTGCTCATCGCCCAGGCTGT	0.652																																							uc003egh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2671-2673)GGC>GGT		adenylate cyclase 5							56.0	51.0	53.0					3																	123021953		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123021953G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2673C>T	3.37:g.123021953G>A						ADCY5_uc003egg.1_Silent_p.G524G|ADCY5_uc003egi.1_Silent_p.G450G	p.G891G	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	14	2673	-			891			Extracellular (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.2673C>T	CCDS3022.1																																																																																				0.652	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		13	41	0	0	0	0.09319	0	13	41				
VEPH1	79674	broad.mit.edu	37	3	157213089	157213089	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr3:157213089G>C	ENST00000362010.2	-	2	357	c.50C>G	c.(49-51)gCt>gGt	p.A17G	VEPH1_ENST00000392833.2_Missense_Mutation_p.A17G|VEPH1_ENST00000543418.1_Missense_Mutation_p.A17G|VEPH1_ENST00000392832.2_Missense_Mutation_p.A17G|VEPH1_ENST00000468233.1_Missense_Mutation_p.A17G|VEPH1_ENST00000494677.1_Missense_Mutation_p.A17G|VEPH1_ENST00000537559.1_Missense_Mutation_p.A17G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	17						plasma membrane (GO:0005886)		p.A17G(2)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GAGGTCCCCAGCTCGTGAAAG	0.418																																							uc003fbj.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|lung(1)	5						c.(49-51)GCT>GGT		ventricular zone expressed PH domain homolog 1							151.0	152.0	151.0					3																	157213089		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157213089G>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.50C>G	3.37:g.157213089G>C	ENSP00000354919:p.Ala17Gly					VEPH1_uc003fbk.1_Missense_Mutation_p.A17G|VEPH1_uc010hvu.1_Missense_Mutation_p.A17G|VEPH1_uc003fbm.2_Missense_Mutation_p.A17G|VEPH1_uc003fbn.2_Missense_Mutation_p.A17G	p.A17G	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		2	367	-			17					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.50C>G	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122597	0.94429	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753;ENST00000461299;ENST00000489602	T;T;T;T	0.15487	2.42;2.51;2.42;2.51	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.996;0.994	T	0.46456	-0.9190	10	0.72032	D	0.01	-23.9413	19.3422	0.94347	0.0:0.0:1.0:0.0	.	17;17;17	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	G	17	ENSP00000376578:A17G;ENSP00000354919:A17G;ENSP00000446258:A17G;ENSP00000376577:A17G	ENSP00000354919:A17G	A	-	2	0	VEPH1	158695783	1.000000	0.71417	0.921000	0.36526	0.998000	0.95712	9.501000	0.97979	2.567000	0.86603	0.655000	0.94253	GCT		0.418	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		34	80	0	0	0	0.225048	0	34	80				
YEATS2	55689	broad.mit.edu	37	3	183515839	183515839	+	Splice_Site	SNP	G	G	C			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr3:183515839G>C	ENST00000305135.5	+	22	3421	c.3226G>C	c.(3226-3228)Gtg>Ctg	p.V1076L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1076					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.V1076L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGTGAATAAAGGTGAGTCCCT	0.587																																							uc003fly.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(3226-3228)GTG>CTG		YEATS domain containing 2							94.0	97.0	96.0					3																	183515839		2140	4244	6384	SO:0001630	splice_region_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183515839G>C	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3226+1G>C	3.37:g.183515839G>C							p.V1076L	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		22	3421	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1076					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.3226G>C	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309144	0.81247	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	D	0.86366	-2.11	5.62	5.62	0.85841	.	0.074437	0.53938	D	0.000043	D	0.89473	0.6725	L	0.27053	0.805	0.52099	D	0.999946	D	0.58970	0.984	D	0.68192	0.956	D	0.90654	0.4585	10	0.72032	D	0.01	-13.4708	17.8357	0.88696	0.0:0.0:1.0:0.0	.	1076	Q9ULM3	YETS2_HUMAN	L	1076	ENSP00000306983:V1076L	ENSP00000306983:V1076L	V	+	1	0	YEATS2	184998533	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	8.507000	0.90522	2.642000	0.89623	0.591000	0.81541	GTG		0.587	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023	Missense_Mutation	10	19	0	0	0	0.058154	0	10	19				
NDST3	9348	broad.mit.edu	37	4	119059263	119059263	+	Missense_Mutation	SNP	G	G	A	rs150758016	byFrequency	TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr4:119059263G>A	ENST00000296499.5	+	5	1682	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	NDST3_ENST00000433996.2_Missense_Mutation_p.V346I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	427	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.V427I(3)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTCGGGCGTCTACCCTGT	0.468																																							uc003ibx.2		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	large_intestine(1)	1						c.(1279-1281)GTC>ATC		N-deacetylase/N-sulfotransferase (heparan		G	ILE/VAL	0,4406		0,0,2203	102.0	98.0	100.0		1279	5.4	1.0	4	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	no	missense	NDST3	NM_004784.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	427/874	119059263	2,13004	2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119059263G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1279G>A	4.37:g.119059263G>A	ENSP00000296499:p.Val427Ile					NDST3_uc011cgf.1_Missense_Mutation_p.V346I	p.V427I	NM_004784	NP_004775	O95803	NDST3_HUMAN			5	1682	+			427			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1279G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685475	0.88639	0.0	2.33E-4	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.53857	0.88;0.6	5.39	5.39	0.77823	.	0.114616	0.64402	D	0.000018	T	0.70272	0.3205	M	0.68317	2.08	0.43724	D	0.996204	D;D	0.62365	0.987;0.991	P;P	0.62885	0.826;0.908	T	0.71567	-0.4554	10	0.54805	T	0.06	.	19.1484	0.93477	0.0:0.0:1.0:0.0	.	346;427	B4DI67;O95803	.;NDST3_HUMAN	I	427;346	ENSP00000296499:V427I;ENSP00000396625:V346I	ENSP00000296499:V427I	V	+	1	0	NDST3	119278711	1.000000	0.71417	0.986000	0.45419	0.630000	0.37929	9.778000	0.99011	2.519000	0.84933	0.557000	0.71058	GTC		0.468	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		19	55	0	0	0	0.219247	0	19	55				
FGFR1	2260	broad.mit.edu	37	8	38314896	38314896	+	Silent	SNP	C	C	T	rs369704492	byFrequency	TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr8:38314896C>T	ENST00000447712.2	-	2	1010	c.69G>A	c.(67-69)ccG>ccA	p.P23P	FGFR1_ENST00000356207.5_Silent_p.P23P|FGFR1_ENST00000425967.3_Silent_p.P56P|FGFR1_ENST00000341462.5_Silent_p.P23P|FGFR1_ENST00000326324.6_Silent_p.P23P|FGFR1_ENST00000532791.1_Silent_p.P23P|FGFR1_ENST00000335922.5_5'UTR|FGFR1_ENST00000397113.2_Silent_p.P23P|FGFR1_ENST00000397091.5_Silent_p.P23P|FGFR1_ENST00000397108.4_Silent_p.P23P|FGFR1_ENST00000397103.1_Silent_p.P23P	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	23					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.P23P(4)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGGTCGGGGACGGCCTAGCGG	0.612		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						C|||	5	0.000998403	0.0	0.0	5008	,	,		18953	0.005		0.0	False		,,,				2504	0.0				Melanoma(146;1153 1840 21453 21841 43625)	Melanoma(146;1153 1840 21453 21841 43625)	uc003xlp.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	Pfeiffer syndrome|Kallman syndrome	L	BCR|FOP|ZNF198|CEP1		MPD|NHL		4	Substitution - coding silent(4)		lung(4)	lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15						c.(67-69)CCG>CCA		fibroblast growth factor receptor 1 isoform 1	Palifermin(DB00039)	C	,,,,,,,,	2,4404	4.2+/-10.8	0,2,2201	62.0	55.0	57.0		69,,69,69,168,69,69,69,69	-4.1	0.9	8		57	0,8600		0,0,4300	no	coding-synonymous,utr-5,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FGFR1	NM_001174063.1,NM_001174064.1,NM_001174065.1,NM_001174066.1,NM_001174067.1,NM_015850.3,NM_023105.2,NM_023106.2,NM_023110.2	,,,,,,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,,,,,,	23/821,,23/821,23/734,56/854,23/821,23/734,23/732,23/823	38314896	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38314896C>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.69G>A	8.37:g.38314896C>T						FGFR1_uc011lbo.1_Silent_p.P23P|FGFR1_uc011lbp.1_Silent_p.P23P|FGFR1_uc011lbq.1_Silent_p.P23P|FGFR1_uc010lwk.2_5'UTR|FGFR1_uc011lbs.1_5'UTR|FGFR1_uc011lbt.1_Silent_p.P23P|FGFR1_uc011lbu.1_Silent_p.P56P|FGFR1_uc011lbv.1_Silent_p.P23P|FGFR1_uc011lbw.1_Silent_p.P23P|FGFR1_uc011lbx.1_Silent_p.P23P|FGFR1_uc003xlv.2_Silent_p.P23P|FGFR1_uc003xlu.2_Silent_p.P23P|FGFR1_uc003xlw.1_RNA	p.P23P	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		2	1011	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	23			Extracellular (Potential).		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	c.69G>A	CCDS6107.2																																																																																				0.612	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				15	21	0	0	0	0.132662	0	15	21				
CHD7	55636	broad.mit.edu	37	8	61765656	61765656	+	Silent	SNP	C	C	T			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr8:61765656C>T	ENST00000423902.2	+	31	6851	c.6372C>T	c.(6370-6372)ttC>ttT	p.F2124F	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2124					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.F2124F(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGTTATCCTTCTTGGATGCAC	0.498																																							uc003xue.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(6370-6372)TTC>TTT		chromodomain helicase DNA binding protein 7							76.0	80.0	79.0					8																	61765656		1986	4168	6154	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61765656C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6372C>T	8.37:g.61765656C>T							p.F2124F	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		31	6849	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2124					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.6372C>T	CCDS47865.1																																																																																				0.498	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		11	30	0	0	0	0.069234	0	11	30				
VPS13B	157680	broad.mit.edu	37	8	100523686	100523686	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr8:100523686A>G	ENST00000358544.2	+	29	4765	c.4654A>G	c.(4654-4656)Agt>Ggt	p.S1552G	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.S1527G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1552					protein transport (GO:0015031)			p.S1552G(1)|p.S1527G(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTCAACACAAGTGTAATCAG	0.348																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(4654-4656)AGT>GGT		vacuolar protein sorting 13B isoform 5							34.0	34.0	34.0					8																	100523686		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100523686A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4654A>G	8.37:g.100523686A>G	ENSP00000351346:p.Ser1552Gly					VPS13B_uc003yiw.2_Missense_Mutation_p.S1527G|VPS13B_uc003yix.1_Missense_Mutation_p.S1022G	p.S1552G	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4765	+	Breast(36;3.73e-07)		1552					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4654A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.630308	0.46944	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.67865	-0.28;-0.29	5.48	4.32	0.51571	.	0.100362	0.64402	D	0.000004	T	0.34221	0.0890	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.12013	0.005;0.005;0.003	B;B;B	0.09377	0.004;0.004;0.002	T	0.25745	-1.0123	10	0.13853	T	0.58	.	6.9384	0.24478	0.8311:0.0:0.1689:0.0	.	1551;1527;1552	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	G	1527;1552	ENSP00000349685:S1527G;ENSP00000351346:S1552G	ENSP00000349685:S1527G	S	+	1	0	VPS13B	100592862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.895000	0.69814	2.202000	0.70862	0.477000	0.44152	AGT		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		19	23	0	0	0	0.219247	0	19	23				
ASTN2	23245	broad.mit.edu	37	9	119976967	119976967	+	Missense_Mutation	SNP	C	C	T	rs182920283		TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr9:119976967C>T	ENST00000313400.4	-	3	785	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	ASTN2_ENST00000361209.2_Missense_Mutation_p.A229T|ASTN2_ENST00000373996.3_Missense_Mutation_p.A229T|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	229			A -> V (found in a clear cell renal carcinoma case; somatic mutation). {ECO:0000269|PubMed:21248752}.		negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.A229T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGTCGCTGGGCGTACAGCGCC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		16632	0.001		0.0	False		,,,				2504	0.0						uc004bjs.1		NA																	1	Substitution - Missense(1)	p.A229V(1)	lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(685-687)GCC>ACC		astrotactin 2 isoform c		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	44.0	43.0	44.0		685	5.5	1.0	9		44	0,8600		0,0,4300	no	missense	ASTN2	NM_014010.4	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	229/1289	119976967	1,13005	2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976967C>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.685G>A	9.37:g.119976967C>T	ENSP00000314038:p.Ala229Thr					ASTN2_uc004bjr.1_Missense_Mutation_p.A229T|ASTN2_uc004bjt.1_Missense_Mutation_p.A229T	p.A229T	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	786	-			229		A -> V (found in a clear cell renal carcinoma case; somatic mutation).	Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.685G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.14	1.848028	0.32699	2.27E-4	0.0	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.08807	3.08;3.08;3.05	5.51	5.51	0.81932	.	0.072222	0.56097	D	0.000034	T	0.03739	0.0106	N	0.03608	-0.345	0.47094	D	0.999314	B;B;P	0.40794	0.089;0.265;0.729	B;B;B	0.28553	0.005;0.008;0.091	T	0.57458	-0.7808	9	.	.	.	-20.283	19.0397	0.92993	0.0:1.0:0.0:0.0	.	229;229;229	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	T	229	ENSP00000314038:A229T;ENSP00000363108:A229T;ENSP00000354504:A229T	.	A	-	1	0	ASTN2	119016788	1.000000	0.71417	0.984000	0.44739	0.712000	0.41017	4.046000	0.57376	2.599000	0.87857	0.655000	0.94253	GCC		0.607	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		13	20	0	0	0	0.09319	0	13	20				
C9orf106	414318	broad.mit.edu	37	9	132084686	132084686	+	RNA	SNP	T	T	C			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr9:132084686T>C	ENST00000316786.1	+	0	647							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106									p.H198H(1)		large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				GGGGTAAACATGGTCCCAGGC	0.597																																							uc004bxs.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(592-594)CAT>CAC		hypothetical protein LOC414318							46.0	51.0	50.0					9																	132084686		1999	4168	6167			414318							g.chr9:132084686T>C	AK092588		9q34.11	2013-12-05	2013-12-05	2013-12-05	ENSG00000179082	ENSG00000179082			31370	other	unknown							Standard	NM_001012715		Approved	bA65J3.5	uc004bxs.2	Q8NAJ2	OTTHUMG00000020781		9.37:g.132084686T>C							p.H198H	NM_001012715	NP_001012733	Q8NAJ2	CI106_HUMAN			2	647	+		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)	198						Silent	SNP	ENST00000316786.1	37	c.594T>C																																																																																					0.597	C9orf106-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054576.2			12	37	0	0	0	0.080935	0	12	37				
USP20	10868	broad.mit.edu	37	9	132637634	132637634	+	Silent	SNP	C	C	T			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr9:132637634C>T	ENST00000315480.4	+	20	2252	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S	USP20_ENST00000372429.3_Silent_p.S698S|USP20_ENST00000358355.1_Silent_p.S698S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	698	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.S698S(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AGGTGGTGTCCCTGGCCGCCA	0.662																																							uc004bys.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(1)|breast(1)	2						c.(2092-2094)TCC>TCT		ubiquitin specific protease 20							29.0	38.0	35.0					9																	132637634		2111	4220	6331	SO:0001819	synonymous_variant	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132637634C>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2094C>T	9.37:g.132637634C>T						USP20_uc004byr.2_Silent_p.S698S|USP20_uc004byt.1_Silent_p.S698S	p.S698S	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN			20	2305	+		Ovarian(14;0.00556)	698			DUSP 1.		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	ENST00000315480.4	37	c.2094C>T	CCDS43892.1																																																																																				0.662	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			5	11	0	0	0	0.217242	0	5	11				
TUBB4B	10383	broad.mit.edu	37	9	140136447	140136447	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr9:140136447T>A	ENST00000340384.4	+	3	399	c.251T>A	c.(250-252)aTc>aAc	p.I84N		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	84					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)	p.I84N(1)								Albendazole(DB00518)|Mebendazole(DB00643)	TTCGGGCAGATCTTCCGGCCG	0.701																																							uc004cmh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)ATC>AAC		tubulin, beta, 2							22.0	28.0	26.0					9																	140136447		2179	4271	6450	SO:0001583	missense	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140136447T>A	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.251T>A	9.37:g.140136447T>A	ENSP00000341289:p.Ile84Asn					TUBB2C_uc004cmg.1_5'UTR	p.I84N	NM_006088	NP_006079	P68371	TBB2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	3	353	+	all_cancers(76;0.0926)		84					A2BFA2|P05217	Missense_Mutation	SNP	ENST00000340384.4	37	c.251T>A	CCDS7039.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.688936	0.48097	.	.	ENSG00000188229	ENST00000340384	T	0.71817	-0.6	4.22	4.22	0.49857	.	0.082303	0.44902	D	0.000410	T	0.82089	0.4961	M	0.78456	2.415	0.54753	D	0.999983	P	0.44877	0.845	P	0.61592	0.891	D	0.84208	0.0454	10	0.87932	D	0	.	12.1391	0.53989	0.0:0.0:0.0:1.0	.	84	P68371	TBB4B_HUMAN	N	84	ENSP00000341289:I84N	ENSP00000341289:I84N	I	+	2	0	TUBB2C	139256268	0.998000	0.40836	0.994000	0.49952	0.317000	0.28152	3.324000	0.52022	1.538000	0.49270	0.460000	0.39030	ATC		0.701	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		6	23	0	0	0	0.217242	0	6	23				
NLRX1	79671	broad.mit.edu	37	11	119045824	119045825	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr11:119045824_119045825insT	ENST00000409109.1	+	6	2099_2100	c.1512_1513insT	c.(1513-1515)tacfs	p.Y505fs	NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.Y505fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.Y505fs|NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.Y505fs|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.Y505fs	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	505	Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGCTGCCCTCTACATTGTGCT	0.624																																							uc001pvu.2		NA																	0				ovary(1)|skin(1)	2						c.(1510-1515)CTCTACfs		NLR family member X1 isoform 1																																				SO:0001589	frameshift_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045824_119045825insT	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1513dupT	11.37:g.119045825_119045825dupT	ENSP00000387334:p.Tyr505fs					NLRX1_uc010rzc.1_Frame_Shift_Ins_p.L326fs|NLRX1_uc001pvv.2_Frame_Shift_Ins_p.L504fs|NLRX1_uc001pvw.2_Frame_Shift_Ins_p.L504fs|NLRX1_uc001pvx.2_Frame_Shift_Ins_p.L504fs	p.L504fs	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1727_1728	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	504_505			Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Frame_Shift_Ins	INS	ENST00000409109.1	37	c.1512_1513insT	CCDS8416.1																																																																																				0.624	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		36	41	NA	NA	NA	NA	NA	36	41	---	---	---	---
TSC2	7249	broad.mit.edu	37	16	2121863	2121865	+	In_Frame_Del	DEL	AGG	AGG	-	rs137854309|rs397515050		TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr16:2121863_2121865delAGG	ENST00000219476.3	+	19	2655_2657	c.2025_2027delAGG	c.(2023-2028)gcaggc>gcc	p.G676del	TSC2_ENST00000382538.6_In_Frame_Del_p.G627del|TSC2_ENST00000353929.4_In_Frame_Del_p.G676del|TSC2_ENST00000439673.2_In_Frame_Del_p.G639del|TSC2_ENST00000350773.4_In_Frame_Del_p.G676del|TSC2_ENST00000401874.2_In_Frame_Del_p.G676del|TSC2_ENST00000568454.1_In_Frame_Del_p.G687del	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	676					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGGCGCCTGCAGGCCCCGCCGTG	0.685			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														uc002con.2		NA	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			0				central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.(2023-2028)GCAGGC>GCC		tuberous sclerosis 2 isoform 1																																				SO:0001651	inframe_deletion	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2121863_2121865delAGG	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2025_2027delAGG	16.37:g.2121863_2121865delAGG	ENSP00000219476:p.Gly676del					TSC2_uc010bsd.2_In_Frame_Del_p.G676del|TSC2_uc002coo.2_In_Frame_Del_p.G676del|TSC2_uc010uvv.1_In_Frame_Del_p.G639del|TSC2_uc010uvw.1_In_Frame_Del_p.G627del|TSC2_uc002cop.2_In_Frame_Del_p.G476del	p.G676del	NM_000548	NP_000539	P49815	TSC2_HUMAN			19	2131_2133	+		Hepatocellular(780;0.0202)	676					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	In_Frame_Del	DEL	ENST00000219476.3	37	c.2025_2027delAGG	CCDS10458.1																																																																																				0.685	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
TMEM101	84336	broad.mit.edu	37	17	42091891	42091891	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr17:42091891delG	ENST00000589334.1	-	3	467	c.152delC	c.(151-153)ccafs	p.P51fs	TMEM101_ENST00000587529.1_Frame_Shift_Del_p.P51fs|TMEM101_ENST00000542039.1_5'UTR|TMEM101_ENST00000206380.3_Frame_Shift_Del_p.P51fs			Q96IK0	TM101_HUMAN	transmembrane protein 101	51					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GTAAGGCACTGGGATGTCGGG	0.622																																							uc002ieu.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(151-153)CCAfs		transmembrane protein 101							24.0	18.0	20.0					17																	42091891		2195	4294	6489	SO:0001589	frameshift_variant	84336				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chr17:42091891delG	AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.152delC	17.37:g.42091891delG	ENSP00000468025:p.Pro51fs					TMEM101_uc010wis.1_5'UTR	p.P51fs	NM_032376	NP_115752	Q96IK0	TM101_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	177	-		Breast(137;0.0264)|Prostate(33;0.0861)	51					B2R9N6	Frame_Shift_Del	DEL	ENST00000589334.1	37	c.152delC	CCDS11474.1																																																																																				0.622	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457665.1	NM_032376		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47143009	47143010	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chr3:47143009_47143010insA	ENST00000409792.3	-	8	4995_4996	c.4953_4954insT	c.(4951-4956)tttaccfs	p.T1652fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1652	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTGGTGGTAAAAAACCCAA	0.401			"""N, F, S, Mis"""		clear cell renal carcinoma																																		uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(4951-4956)TTTACCfs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47143009_47143010insA	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4954dupT	3.37:g.47143015_47143015dupA	ENSP00000386759:p.Thr1652fs					SETD2_uc003cqv.2_Frame_Shift_Ins_p.F1718fs	p.F1651fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	8	5006_5007	-		Acute lymphoblastic leukemia(5;0.0169)	1651_1652			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	37	c.4953_4954insT	CCDS2749.2																																																																																				0.401	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		40	145	NA	NA	NA	NA	NA	40	145	---	---	---	---
FAM58A	92002	broad.mit.edu	37	X	152858167	152858167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4425-01A-01D-1753-08	TCGA-05-4425-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4a367804-9934-4241-90da-0ba0245564bd	9fdb4cff-c29d-4070-a847-7cb92547cd6e	g.chrX:152858167delG	ENST00000406277.2	-	6	550	c.448delC	c.(448-450)ctcfs	p.L150fs	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	152					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)			p.L118I(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTTCTGGAGGGAAACCAGG	0.617																																							uc010nug.2		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(268-270)CTCfs		RecName: Full=Cyclin-related protein FAM58B;							33.0	28.0	30.0					X																	152858167		2203	4299	6502	SO:0001589	frameshift_variant	92002				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chrX:152858167delG	BC032121	CCDS76054.1	Xq28	2014-08-12	2012-11-30	2012-11-30	ENSG00000147382	ENSG00000262919			28434	protein-coding gene	gene with protein product	"""cyclin M"""	300708				18297069, 24218572	Standard	NM_152274		Approved	MGC29729, FLJ21610	uc011myr.2	Q8N1B3	OTTHUMG00000024206	ENST00000406277.2:c.448delC	X.37:g.152858167delG	ENSP00000384396:p.Leu150fs						p.L90fs			Q8N1B3	FA58A_HUMAN			3	371	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		152					Q2I380|Q330J9|Q96IU5|Q9BUU1	Frame_Shift_Del	DEL	ENST00000406277.2	37	c.268delC																																																																																					0.617	FAM58A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152274		10	14	NA	NA	NA	NA	NA	10	14	---	---	---	---
