#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	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_tumor_sample
TP73	7161	broad.mit.edu	37	1	3640003	3640003	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:3640003G>A	ENST00000378295.4	+	6	857	c.702G>A	c.(700-702)caG>caA	p.Q234Q	TP73_ENST00000378288.4_Silent_p.Q185Q|TP73_ENST00000354437.4_Silent_p.Q234Q|TP73_ENST00000357733.3_Silent_p.Q234Q|TP73_ENST00000604074.1_Silent_p.Q234Q|TP73_ENST00000603362.1_Silent_p.Q234Q|TP73_ENST00000378280.1_Silent_p.Q185Q|TP73_ENST00000378290.4_Silent_p.Q163Q|TP73_ENST00000378285.1_Silent_p.Q185Q|TP73_ENST00000604479.1_Silent_p.Q234Q|TP73_ENST00000346387.4_Silent_p.Q234Q	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	234	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCGGCAGGCAGAGCGTCGTGG	0.657																																						uc001akp.2		NaN																	0				ovary(1)|lung(1)	2						c.(700-702)CAG>CAA		tumor protein p73 isoform a							61.0	49.0	53.0					1																	3640003		2195	4290	6485	SO:0001819	synonymous_variant	7161				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3640003G>A	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.702G>A	1.37:g.3640003G>A						TP73_uc001akq.2_Silent_p.Q234Q|TP73_uc010nzj.1_Silent_p.Q185Q|TP73_uc001akr.2_Silent_p.Q185Q|TP73_uc009vlk.1_Silent_p.Q185Q|TP73_uc001aks.2_Silent_p.Q185Q|TP73_uc010nzk.1_Silent_p.Q163Q	p.Q234Q	NM_005427	NP_005418	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	6	812	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	234			DNA-binding (Potential).		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP	ENST00000378295.4	37	c.702G>A	CCDS49.1																																																																																				0.657	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4		NM_005427		5	39	0	0	0	0.014758	0	5	39		
VPS13D	55187	broad.mit.edu	37	1	12389897	12389897	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:12389897C>G	ENST00000358136.3	+	37	8339	c.8209C>G	c.(8209-8211)Ctt>Gtt	p.L2737V	VPS13D_ENST00000356315.4_Missense_Mutation_p.L2737V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTGAATTTTCTTCAGCGTGT	0.428																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(8209-8211)CTT>GTT		vacuolar protein sorting 13D isoform 1							96.0	88.0	90.0					1																	12389897		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12389897C>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8209C>G	1.37:g.12389897C>G	ENSP00000350854:p.Leu2737Val					VPS13D_uc001atw.2_Missense_Mutation_p.L2737V|VPS13D_uc001atx.2_Missense_Mutation_p.L1925V|VPS13D_uc001aty.1_Missense_Mutation_p.L475V	p.L2737V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	37	8350	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2737						Missense_Mutation	SNP	ENST00000358136.3	37	c.8209C>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.21|14.21	2.468155|2.468155	0.43839|0.43839	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	T|T;T	0.43688|0.48201	0.94|0.82;0.82	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.062472	.|0.64402	.|D	.|0.000003	T|T	0.42988|0.42988	0.1227|0.1227	L|L	0.55103|0.55103	1.725|1.725	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.52316	.|0.952;0.002;0.002	.|B;B;B	.|0.41860	.|0.368;0.004;0.002	T|T	0.24440|0.24440	-1.0160|-1.0160	7|10	0.06891|0.25106	T|T	0.86|0.35	.|.	13.0364|13.0364	0.58875|0.58875	0.0:0.9253:0.0:0.0747|0.0:0.9253:0.0:0.0747	.|.	.|644;2737;2737	.|B1AJZ2;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	L|V	1559|2737	ENSP00000011700:F1559L|ENSP00000348666:L2737V;ENSP00000350854:L2737V	ENSP00000011700:F1559L|ENSP00000348666:L2737V	F|L	+|+	3|1	2|0	VPS13D|VPS13D	12312484|12312484	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.961000|0.961000	0.63080|0.63080	2.738000|2.738000	0.47401|0.47401	2.834000|2.834000	0.97654|0.97654	0.650000|0.650000	0.86243|0.86243	TTC|CTT		0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		11	39	0	0	0	0.105934	0	11	39		
Unknown	0	broad.mit.edu	37	1	16133952	16133952	+	IGR	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:16133952C>A								FBLIM1 (20863 upstream) : RP11-169K16.9 (26607 downstream)																							GTGCAATCCTCTTCTGTATGT	0.463																																						uc009vol.1		NaN																	0					0						c.(193-195)GAG>TAG		ubiquinol-cytochrome c reductase hinge							148.0	155.0	153.0					1																	16133952		2203	4300	6503	SO:0001628	intergenic_variant	440567							g.chr1:16133952C>A																													1.37:g.16133952C>A							p.E65*	NM_001089591	NP_001083060					1	243	-									Nonsense_Mutation	SNP		37	c.193G>T																																																																																				0	0.463										13	154	1	0	2.32078e-09	0.024245	2.57143e-09	13	154		
ARHGEF10L	55160	broad.mit.edu	37	1	17958953	17958953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:17958953C>G	ENST00000361221.3	+	16	1881	c.1722C>G	c.(1720-1722)atC>atG	p.I574M	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.I352M|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.I332M|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.I535M|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.I535M|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.I282M|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.I574M	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	574						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GTGCCAACATCAACTTCAAGT	0.597																																						uc001ban.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(1720-1722)ATC>ATG		Rho guanine nucleotide exchange factor (GEF)							118.0	118.0	118.0					1																	17958953		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17958953C>G	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1722C>G	1.37:g.17958953C>G	ENSP00000355060:p.Ile574Met					ARHGEF10L_uc009vpe.1_Missense_Mutation_p.I535M|ARHGEF10L_uc001bao.2_Missense_Mutation_p.I535M|ARHGEF10L_uc001bap.2_Missense_Mutation_p.I535M|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.I332M|ARHGEF10L_uc001baq.2_Missense_Mutation_p.I340M|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.I352M|ARHGEF10L_uc001bar.2_Missense_Mutation_p.I282M|ARHGEF10L_uc009vpf.2_RNA	p.I574M	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	16	1881	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	574					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1722C>G	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197830	0.58126	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.27	4.33	0.51752	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	M	0.61703	1.905	0.40242	D	0.977979	D;P;D;D;D;D;D;D	0.71674	0.982;0.93;0.989;0.998;0.992;0.995;0.998;0.996	P;P;D;D;P;D;D;D	0.74023	0.887;0.669;0.947;0.982;0.887;0.947;0.982;0.969	T	0.10497	-1.0627	10	0.72032	D	0.01	-25.445	8.1	0.30850	0.0:0.7538:0.1616:0.0846	.	352;332;574;282;340;535;535;574	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	M	574;535;574;535;332;352;352;282	ENSP00000355060:I574M;ENSP00000399401:I535M;ENSP00000394621:I574M;ENSP00000364564:I535M;ENSP00000364569:I332M;ENSP00000364557:I352M;ENSP00000167825:I282M	ENSP00000167825:I282M	I	+	3	3	ARHGEF10L	17831540	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.950000	0.29122	1.167000	0.42706	0.561000	0.74099	ATC		0.597	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1		NM_018125		19	132	0	0	0	0.108266	0	19	132		
MYOM3	127294	broad.mit.edu	37	1	24388577	24388577	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:24388577C>T	ENST00000374434.3	-	33	3955	c.3793G>A	c.(3793-3795)Gat>Aat	p.D1265N	MYOM3_ENST00000338909.5_Missense_Mutation_p.D158N|MYOM3_ENST00000330966.7_Missense_Mutation_p.D1268N|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1265						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTATCCGATCACCACTCTCC	0.527																																						uc001bin.3		NaN																	0				skin(2)|ovary(1)	3						c.(3793-3795)GAT>AAT		myomesin family, member 3							176.0	173.0	174.0					1																	24388577		1943	4137	6080	SO:0001583	missense	127294							g.chr1:24388577C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3793G>A	1.37:g.24388577C>T	ENSP00000363557:p.Asp1265Asn					MYOM3_uc001bil.3_Missense_Mutation_p.D158N|MYOM3_uc001bim.3_Missense_Mutation_p.D922N	p.D1265N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	33	3956	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1265					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3793G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113160	0.56398	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.43294	0.95;0.95;0.95	5.21	5.21	0.72293	Immunoglobulin-like fold (1);	0.265558	0.37437	N	0.002096	T	0.45518	0.1346	M	0.74881	2.28	0.80722	D	1	P;B	0.42296	0.775;0.297	B;B	0.37015	0.239;0.167	T	0.49485	-0.8935	10	0.32370	T	0.25	.	18.7547	0.91827	0.0:1.0:0.0:0.0	.	1265;158	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	N	158;1265;1268;160	ENSP00000342689:D158N;ENSP00000363557:D1265N;ENSP00000332670:D1268N	ENSP00000332670:D1268N	D	-	1	0	MYOM3	24261164	0.989000	0.36119	0.421000	0.26609	0.142000	0.21351	4.039000	0.57325	2.422000	0.82143	0.591000	0.81541	GAT		0.527	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372		19	147	0	0	0	0.055883	0	19	147		
WDTC1	23038	broad.mit.edu	37	1	27623588	27623588	+	Silent	SNP	C	C	T	rs371464043		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:27623588C>T	ENST00000319394.3	+	11	1534	c.999C>T	c.(997-999)tcC>tcT	p.S333S	WDTC1_ENST00000361771.3_Silent_p.S332S	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	333					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		acggtgtgtccaaTGGCCTGC	0.562											OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009vst.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(997-999)TCC>TCT		WD and tetratricopeptide repeats 1		C		0,4406		0,0,2203	160.0	122.0	135.0		996	1.6	1.0	1		135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDTC1	NM_015023.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		332/677	27623588	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23038						protein binding	g.chr1:27623588C>T	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.999C>T	1.37:g.27623588C>T			OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	795	WDTC1_uc001bno.2_Silent_p.S332S|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Silent_p.S11S	p.S333S	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	11	1534	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	333					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	ENST00000319394.3	37	c.999C>T																																																																																					0.562	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015023		7	21	0	0	0	0.038147	0	7	21		
WDTC1	23038	broad.mit.edu	37	1	27631682	27631682	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:27631682G>C	ENST00000319394.3	+	15	2369	c.1834G>C	c.(1834-1836)Gag>Cag	p.E612Q	WDTC1_ENST00000361771.3_Missense_Mutation_p.E611Q	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	612					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCCCCGACCAGAGGTGAGGGT	0.617																																						uc009vst.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1834-1836)GAG>CAG		WD and tetratricopeptide repeats 1							45.0	36.0	39.0					1																	27631682		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27631682G>C	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1834G>C	1.37:g.27631682G>C	ENSP00000317971:p.Glu612Gln					WDTC1_uc001bno.2_Missense_Mutation_p.E611Q|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.E290Q	p.E612Q	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	15	2369	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	612			WD 7.		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.1834G>C		.	.	.	.	.	.	.	.	.	.	G	21.8	4.204745	0.79127	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.63580	-0.05;-0.05	4.8	4.8	0.61643	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	L	0.27053	0.805	0.80722	D	1	P;P	0.41978	0.767;0.713	B;B	0.43575	0.344;0.424	T	0.55289	-0.8164	10	0.36615	T	0.2	.	17.3893	0.87425	0.0:0.0:1.0:0.0	.	612;611	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	Q	612;611	ENSP00000317971:E612Q;ENSP00000355317:E611Q	ENSP00000317971:E612Q	E	+	1	0	WDTC1	27504269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.208000	0.95075	2.650000	0.89964	0.557000	0.71058	GAG		0.617	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015023		7	24	0	0	0	0.058154	0	7	24		
PHACTR4	65979	broad.mit.edu	37	1	28818294	28818294	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:28818294G>A	ENST00000373839.3	+	12	2272	c.2011G>A	c.(2011-2013)Gac>Aac	p.D671N	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.D681N	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	671					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCCTGCTGACAAGGTACC	0.423																																						uc001bpw.2		NaN																	0					0						c.(2011-2013)GAC>AAC		phosphatase and actin regulator 4 isoform 1							67.0	72.0	70.0					1																	28818294		1891	4107	5998	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28818294G>A	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.2011G>A	1.37:g.28818294G>A	ENSP00000362945:p.Asp671Asn					PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.D655N|PHACTR4_uc001bpy.2_Missense_Mutation_p.D681N|PHACTR4_uc001bpz.2_RNA	p.D671N	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	12	2293	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	671					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.2011G>A	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468911	0.96274	.	.	ENSG00000204138	ENST00000373839;ENST00000373836	T;T	0.35236	1.33;1.32	5.77	5.77	0.91146	.	0.092215	0.64402	D	0.000001	T	0.65375	0.2685	M	0.88105	2.93	0.80722	D	1	P;P	0.52692	0.953;0.955	P;P	0.59424	0.857;0.693	T	0.71189	-0.4666	10	0.87932	D	0	-6.7917	19.0261	0.92932	0.0:0.0:1.0:0.0	.	681;671	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	N	671;681	ENSP00000362945:D671N;ENSP00000362942:D681N	ENSP00000362942:D681N	D	+	1	0	PHACTR4	28690881	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.818000	0.99354	2.737000	0.93849	0.558000	0.71614	GAC		0.423	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4		NM_023923		3	63	0	0	0	0.009096	0	3	63		
CSMD2	114784	broad.mit.edu	37	1	34166245	34166245	+	Missense_Mutation	SNP	C	C	T	rs201989989		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:34166245C>T	ENST00000373380.1	-	2	444	c.224G>A	c.(223-225)cGt>cAt	p.R75H	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1202H			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1162	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCAGCAAACGGGCGGAGTT	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20624	0.0		0.001	False		,,,				2504	0.0					uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(3484-3486)CGT>CAT		CUB and Sushi multiple domains 2		C	HIS/ARG	0,4406		0,0,2203	99.0	86.0	90.0		3485	5.5	1.0	1		90	2,8598	2.2+/-6.3	0,2,4298	no	missense	CSMD2	NM_052896.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	1162/3488	34166245	2,13004	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34166245C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.224G>A	1.37:g.34166245C>T	ENSP00000362478:p.Arg75His					CSMD2_uc001bxm.1_Missense_Mutation_p.R1202H|CSMD2_uc001bxo.1_Missense_Mutation_p.R75H	p.R1162H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			23	3514	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1162			Extracellular (Potential).|CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3485G>A		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.82	3.482787	0.63962	0.0	2.33E-4	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.29397	1.57;1.57	5.48	5.48	0.80851	CUB (5);	0.060371	0.64402	D	0.000002	T	0.44477	0.1295	L	0.49126	1.545	0.80722	D	1	D;P;B	0.60160	0.987;0.838;0.404	P;B;B	0.59487	0.858;0.382;0.248	T	0.08411	-1.0723	10	0.12103	T	0.63	.	18.2651	0.90050	0.0:1.0:0.0:0.0	.	75;1162;1202	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	H	1202;75	ENSP00000362479:R1202H;ENSP00000362478:R75H	ENSP00000241312:R1162H	R	-	2	0	CSMD2	33938832	1.000000	0.71417	0.991000	0.47740	0.562000	0.35680	7.776000	0.85560	2.738000	0.93877	0.591000	0.81541	CGT		0.498	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4		NM_052896		20	52	0	0	0	0.076483	0	20	52		
UTP11L	51118	broad.mit.edu	37	1	38484964	38484964	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:38484964C>T	ENST00000373014.4	+	6	537	c.476C>T	c.(475-477)cCg>cTg	p.P159L	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Intron	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	159					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAAACAGCCCCGGAGCTAGTC	0.433																																						uc001ccn.3		NaN																	0					0						c.(475-477)CCG>CTG		UTP11-like, U3 small nucleolar							115.0	118.0	117.0					1																	38484964		2203	4300	6503	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38484964C>T	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.476C>T	1.37:g.38484964C>T	ENSP00000362105:p.Pro159Leu					UTP11L_uc009vvm.2_Missense_Mutation_p.P90L|UTP11L_uc010oil.1_Intron|UTP11L_uc001cco.3_Missense_Mutation_p.P90L	p.P159L	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN			6	567	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	159					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.476C>T	CCDS429.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100004	0.94197	.	.	ENSG00000183520	ENST00000373014	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.85106	0.5621	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85646	0.1279	9	0.52906	T	0.07	-21.5617	20.051	0.97627	0.0:1.0:0.0:0.0	.	159	Q9Y3A2	UTP11_HUMAN	L	159	.	ENSP00000362105:P159L	P	+	2	0	UTP11L	38257551	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.001000	0.63946	2.740000	0.93945	0.650000	0.86243	CCG		0.433	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1		NM_016037		25	115	0	0	0	0.099896	0	25	115		
ELAVL4	1996	broad.mit.edu	37	1	50642770	50642770	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:50642770T>G	ENST00000371823.4	+	3	484	c.260T>G	c.(259-261)tTa>tGa	p.L87*	ELAVL4_ENST00000371827.1_Nonsense_Mutation_p.L87*|ELAVL4_ENST00000371819.1_Nonsense_Mutation_p.L92*|ELAVL4_ENST00000371824.1_Nonsense_Mutation_p.L87*|ELAVL4_ENST00000448907.2_Nonsense_Mutation_p.L90*|RP11-567C20.2_ENST00000442477.1_RNA|ELAVL4_ENST00000371821.1_Nonsense_Mutation_p.L92*|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Nonsense_Mutation_p.L104*	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	87	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGACAGAGTTTAGGGTATGGA	0.393																																						uc001csb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(259-261)TTA>TGA		ELAV-like 4 isoform 1							75.0	73.0	74.0					1																	50642770		2203	4300	6503	SO:0001587	stop_gained	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50642770T>G	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.260T>G	1.37:g.50642770T>G	ENSP00000360888:p.Leu87*					ELAVL4_uc001cry.3_Nonsense_Mutation_p.L90*|ELAVL4_uc001crz.3_Nonsense_Mutation_p.L87*|ELAVL4_uc001csa.3_Nonsense_Mutation_p.L104*|ELAVL4_uc001csc.3_Nonsense_Mutation_p.L87*|ELAVL4_uc009vyu.2_Nonsense_Mutation_p.L92*|ELAVL4_uc010omz.1_Nonsense_Mutation_p.L92*	p.L87*	NM_021952	NP_068771	P26378	ELAV4_HUMAN			3	528	+			87			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Nonsense_Mutation	SNP	ENST00000371823.4	37	c.260T>G	CCDS553.1	.	.	.	.	.	.	.	.	.	.	T	39	7.706329	0.98444	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7759	0.78214	0.0:0.0:0.0:1.0	.	.	.	.	X	90;87;104;87;87;92;92	.	ENSP00000349594:L104X	L	+	2	0	ELAVL4	50415357	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.477000	0.81069	2.308000	0.77769	0.533000	0.62120	TTA		0.393	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1		NM_021952		5	29	0	0	0	0.014758	0	5	29		
PGM1	5236	broad.mit.edu	37	1	64095755	64095755	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:64095755C>T	ENST00000371084.3	+	3	765	c.552C>T	c.(550-552)ttC>ttT	p.F184F	PGM1_ENST00000540265.1_5'UTR|PGM1_ENST00000371083.4_Silent_p.F202F	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	184					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCAAACCCTTCACAGGCATGT	0.428																																						uc001dbh.2		NaN																	0				ovary(2)|kidney(1)	3						c.(550-552)TTC>TTT		phosphoglucomutase 1							115.0	105.0	109.0					1																	64095755		2203	4300	6503	SO:0001819	synonymous_variant	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64095755C>T	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.552C>T	1.37:g.64095755C>T						PGM1_uc010ooy.1_5'UTR|PGM1_uc010ooz.1_Silent_p.F202F	p.F184F	NM_002633	NP_002624	P36871	PGM1_HUMAN			3	765	+			184					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Silent	SNP	ENST00000371084.3	37	c.552C>T	CCDS625.1																																																																																				0.428	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1		NM_002633		7	83	0	0	0	0.038147	0	7	83		
ATP1A1	476	broad.mit.edu	37	1	116931580	116931580	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:116931580C>T	ENST00000295598.5	+	7	945	c.693C>T	c.(691-693)ttC>ttT	p.F231F	ATP1A1_ENST00000537345.1_Silent_p.F231F|ATP1A1_ENST00000369496.4_Silent_p.F200F|ATP1A1_ENST00000491156.1_3'UTR	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	231					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	CTCCAGATTTCACAAATGAAA	0.443																																						uc001ege.2		NaN																	0				ovary(1)	1						c.(691-693)TTC>TTT		Na+/K+ -ATPase alpha 1 subunit isoform a	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						86.0	90.0	89.0					1																	116931580		2203	4300	6503	SO:0001819	synonymous_variant	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116931580C>T	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.693C>T	1.37:g.116931580C>T						ATP1A1_uc010owv.1_Silent_p.F200F|ATP1A1_uc010oww.1_Silent_p.F231F|ATP1A1_uc010owx.1_Silent_p.F200F	p.F231F	NM_000701	NP_000692	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	7	1032	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	231			Cytoplasmic (Potential).		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	ENST00000295598.5	37	c.693C>T	CCDS887.1																																																																																				0.443	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5		NM_001160233		5	60	0	0	0	0.021553	0	5	60		
FLG2	388698	broad.mit.edu	37	1	152325523	152325523	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:152325523G>C	ENST00000388718.5	-	3	4811	c.4739C>G	c.(4738-4740)aCt>aGt	p.T1580S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1580					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCACTGTCAGTGGACTCACT	0.507																																						uc001ezw.3		NaN																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4738-4740)ACT>AGT		filaggrin family member 2							305.0	280.0	288.0					1																	152325523		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325523G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4739C>G	1.37:g.152325523G>C	ENSP00000373370:p.Thr1580Ser					uc001ezv.2_Intron	p.T1580S	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4812	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1580					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4739C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.723484	0.00700	.	.	ENSG00000143520	ENST00000388718	T	0.15017	2.46	3.8	-0.695	0.11291	.	.	.	.	.	T	0.00608	0.0020	N	0.00071	-2.275	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46091	-0.9216	9	0.06099	T	0.92	-0.2849	7.9689	0.30115	0.0:0.5936:0.307:0.0994	.	1580	Q5D862	FILA2_HUMAN	S	1580	ENSP00000373370:T1580S	ENSP00000373370:T1580S	T	-	2	0	FLG2	150592147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.025000	0.13577	-0.383000	0.07858	-2.517000	0.00185	ACT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		5	282	0	0	0	0.021553	0	5	282		
FLG2	388698	broad.mit.edu	37	1	152325542	152325542	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:152325542T>A	ENST00000388718.5	-	3	4792	c.4720A>T	c.(4720-4722)Act>Tct	p.T1574S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1574					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGGCTAGTTCTCTGTCTT	0.507																																						uc001ezw.3		NaN																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4720-4722)ACT>TCT		filaggrin family member 2							273.0	254.0	260.0					1																	152325542		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325542T>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4720A>T	1.37:g.152325542T>A	ENSP00000373370:p.Thr1574Ser					uc001ezv.2_Intron	p.T1574S	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4793	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1574					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4720A>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	N	0.096	-1.160234	0.01686	.	.	ENSG00000143520	ENST00000388718	T	0.13196	2.61	3.28	-5.01	0.02991	.	.	.	.	.	T	0.00384	0.0012	N	0.00125	-2.05	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40590	-0.9555	9	0.02654	T	1	1.5429	1.5089	0.02492	0.173:0.146:0.3918:0.2892	.	1574	Q5D862	FILA2_HUMAN	S	1574	ENSP00000373370:T1574S	ENSP00000373370:T1574S	T	-	1	0	FLG2	150592166	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.226000	0.17776	-1.294000	0.02360	-3.712000	0.00023	ACT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		5	297	0	0	0	0.02938	0	5	297		
ATF6	22926	broad.mit.edu	37	1	161823073	161823073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:161823073G>A	ENST00000367942.3	+	12	1560	c.1493G>A	c.(1492-1494)aGa>aAa	p.R498K	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	498	Interaction with THBS4.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	ACCAAGTCAAGAAGAATGACA	0.328																																						uc001gbr.2		NaN																	0				ovary(2)|skin(1)	3						c.(1492-1494)AGA>AAA		activating transcription factor 6							79.0	81.0	80.0					1																	161823073		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161823073G>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1493G>A	1.37:g.161823073G>A	ENSP00000356919:p.Arg498Lys					ATF6_uc001gbq.1_Missense_Mutation_p.R498K	p.R498K	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		12	1560	+	all_hematologic(112;0.156)		498			Lumenal (Potential).		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1493G>A	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064876	0.93898	.	.	ENSG00000118217	ENST00000367942	T	0.13657	2.57	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	L	0.55103	1.725	0.47659	D	0.999483	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.978	T	0.00970	-1.1496	9	0.22706	T	0.39	-7.844	17.4774	0.87662	0.0:0.0:1.0:0.0	.	498;499	P18850;Q59H30	ATF6A_HUMAN;.	K	498	ENSP00000356919:R498K	ENSP00000356919:R498K	R	+	2	0	ATF6	160089697	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.343000	0.79319	2.726000	0.93360	0.655000	0.94253	AGA		0.328	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2		NM_007348		3	32	0	0	0	0.004672	0	3	32		
F5	2153	broad.mit.edu	37	1	169512142	169512142	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:169512142C>G	ENST00000367797.3	-	13	2387	c.2186G>C	c.(2185-2187)aGa>aCa	p.R729T	F5_ENST00000367796.3_Missense_Mutation_p.R734T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	729	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGCAGCCAGTCTGTTCTGGTA	0.433																																						uc001ggg.1		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2185-2187)AGA>ACA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						246.0	231.0	236.0					1																	169512142		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169512142C>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2186G>C	1.37:g.169512142C>G	ENSP00000356771:p.Arg729Thr						p.R729T	NM_000130	NP_000121	P12259	FA5_HUMAN			13	2331	-	all_hematologic(923;0.208)		729			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.2186G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	4.894	0.166130	0.09339	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.22945	1.93;1.93	5.57	-11.1	0.00147	.	5.467910	0.00166	N	0.000000	T	0.03011	0.0089	N	0.25647	0.755	0.22827	N	0.998682	B	0.06786	0.001	B	0.06405	0.002	T	0.13098	-1.0522	9	0.20046	T	0.44	30.2629	4.0328	0.09716	0.2615:0.1085:0.483:0.147	.	729	P12259	FA5_HUMAN	T	729;734	ENSP00000356771:R729T;ENSP00000356770:R734T	ENSP00000356770:R734T	R	-	2	0	F5	167778766	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.609000	0.00110	-4.017000	0.00081	-0.467000	0.05162	AGA		0.433	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		NM_000130		34	182	0	0	0	0.069456	0	34	182		
EXOC8	149371	broad.mit.edu	37	1	231471422	231471422	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:231471422C>G	ENST00000360394.2	-	1	2156	c.2070G>C	c.(2068-2070)gaG>gaC	p.E690D	SPRTN_ENST00000295050.7_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.E686D|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000008440.9_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	690					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CAAACCTTTTCTCCACCACAG	0.423																																						uc001huq.2		NaN																	0				skin(1)	1						c.(2068-2070)GAG>GAC		exocyst complex 84-kDa subunit							152.0	147.0	149.0					1																	231471422		2203	4300	6503	SO:0001583	missense	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231471422C>G	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.2070G>C	1.37:g.231471422C>G	ENSP00000353564:p.Glu690Asp						p.E690D	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN			1	2157	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	690					B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	c.2070G>C	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123235	0.37436	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.78003	-1.14;-1.14	5.73	2.84	0.33178	.	0.000000	0.85682	D	0.000000	T	0.81654	0.4868	M	0.62723	1.935	0.58432	D	0.999997	D	0.58970	0.984	D	0.68192	0.956	T	0.76772	-0.2836	10	0.17832	T	0.49	-25.0187	7.9622	0.30079	0.0:0.5744:0.0:0.4256	.	690	Q8IYI6	EXOC8_HUMAN	D	690;686	ENSP00000353564:E690D;ENSP00000355605:E686D	ENSP00000353564:E690D	E	-	3	2	EXOC8	229538045	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.381000	0.34362	0.780000	0.33566	0.655000	0.94253	GAG		0.423	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_175876		30	130	0	0	0	0.069456	0	30	130		
DIP2C	22982	broad.mit.edu	37	10	468809	468809	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:468809C>T	ENST00000280886.6	-	5	646	c.559G>A	c.(559-561)Ggg>Agg	p.G187R	DIP2C_ENST00000381496.3_Missense_Mutation_p.G80R	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	187						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGGGCAGCCCCGCTGCCCCCG	0.617																																						uc001ifp.2		NaN																	0				breast(4)|ovary(2)|large_intestine(1)	7						c.(559-561)GGG>AGG		DIP2 disco-interacting protein 2 homolog C							72.0	78.0	76.0					10																	468809		2203	4299	6502	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:468809C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.559G>A	10.37:g.468809C>T	ENSP00000280886:p.Gly187Arg					DIP2C_uc009xhk.1_Silent_p.A188A	p.G187R	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	5	649	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	187					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.559G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290489	0.59976	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.31247	1.95;1.5	5.43	4.53	0.55603	.	2.156500	0.02267	N	0.068136	T	0.24314	0.0589	L	0.31420	0.93	0.50813	D	0.999898	P	0.36144	0.539	B	0.27380	0.079	T	0.33445	-0.9868	10	0.07813	T	0.8	-25.5799	14.468	0.67497	0.0:0.9291:0.0:0.0709	.	187	Q9Y2E4	DIP2C_HUMAN	R	187;80	ENSP00000280886:G187R;ENSP00000370907:G80R	ENSP00000280886:G187R	G	-	1	0	DIP2C	458809	0.998000	0.40836	0.559000	0.28332	0.519000	0.34347	3.905000	0.56333	1.303000	0.44873	-0.362000	0.07510	GGG		0.617	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1		NM_014974		10	61	0	0	0	0.105934	0	10	61		
LARP4B	23185	broad.mit.edu	37	10	888915	888915	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:888915C>A	ENST00000316157.3	-	6	643	c.603G>T	c.(601-603)aaG>aaT	p.K201N		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	201	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TGCTGAGCTTCTTGATGTGGT	0.388																																						uc001ifs.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(601-603)AAG>AAT		La ribonucleoprotein domain family, member 4B							135.0	121.0	126.0					10																	888915		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:888915C>A	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.603G>T	10.37:g.888915C>A	ENSP00000326128:p.Lys201Asn						p.K201N	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			6	644	-			201			HTH La-type RNA-binding.		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.603G>T	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762605	0.69763	.	.	ENSG00000107929	ENST00000316157	T	0.51325	0.71	5.5	4.6	0.57074	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	M	0.85777	2.775	0.58432	D	0.999997	P	0.43578	0.811	P	0.52646	0.705	T	0.68187	-0.5475	10	0.72032	D	0.01	-12.6756	10.4613	0.44581	0.0:0.8519:0.0:0.1481	.	201	Q92615	LAR4B_HUMAN	N	201	ENSP00000326128:K201N	ENSP00000326128:K201N	K	-	3	2	LARP4B	878915	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.082000	0.41605	1.330000	0.45394	0.563000	0.77884	AAG		0.388	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2		NM_015155		5	47	1	0	3.59834e-05	0.021553	3.81892e-05	5	47		
CALML3	810	broad.mit.edu	37	10	5567418	5567418	+	Missense_Mutation	SNP	G	G	A	rs200163389		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:5567418G>A	ENST00000315238.1	+	1	495	c.370G>A	c.(370-372)Gag>Aag	p.E124K	CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000543008.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	124	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						GGAGGTGGACGAGATGATCCG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		14944	0.001		0.0	False		,,,				2504	0.0				Colon(173;2070 2647 27580 52203)	uc001iie.1		NaN																	0					0						c.(370-372)GAG>AAG		calmodulin-like 3							78.0	67.0	71.0					10																	5567418		2203	4300	6503	SO:0001583	missense	810						calcium ion binding	g.chr10:5567418G>A	X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"""EF-hand domain containing"""	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.370G>A	10.37:g.5567418G>A	ENSP00000315299:p.Glu124Lys					uc001iid.1_5'Flank	p.E124K	NM_005185	NP_005176	P27482	CALL3_HUMAN			1	495	+			124			EF-hand 4.		B2R9V6|Q5SQI4	Missense_Mutation	SNP	ENST00000315238.1	37	c.370G>A	CCDS7069.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.16	2.749711	0.49257	.	.	ENSG00000178363	ENST00000315238	T	0.73575	-0.76	5.11	4.21	0.49690	EF-hand-like domain (1);	0.125949	0.35772	N	0.002987	T	0.73552	0.3601	L	0.52573	1.65	0.58432	D	0.999998	D	0.58268	0.982	P	0.48654	0.585	T	0.76334	-0.2997	10	0.87932	D	0	-29.4538	12.36	0.55197	0.0828:0.0:0.9172:0.0	.	124	P27482	CALL3_HUMAN	K	124	ENSP00000315299:E124K	ENSP00000315299:E124K	E	+	1	0	CALML3	5557418	1.000000	0.71417	0.973000	0.42090	0.097000	0.18754	5.579000	0.67457	1.150000	0.42419	0.557000	0.71058	GAG		0.657	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1		NM_005185		10	32	0	0	0	0.09319	0	10	32		
FAM208B	54906	broad.mit.edu	37	10	5790413	5790413	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:5790413G>A	ENST00000328090.5	+	15	5654	c.5029G>A	c.(5029-5031)Gag>Aag	p.E1677K		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1677																	AATAAATGCAGAGCCAGTGTT	0.453																																						uc001iij.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(5029-5031)GAG>AAG		hypothetical protein LOC54906							64.0	66.0	65.0					10																	5790413		2152	4267	6419	SO:0001583	missense	54906							g.chr10:5790413G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5029G>A	10.37:g.5790413G>A	ENSP00000328426:p.Glu1677Lys					C10orf18_uc001iik.2_Missense_Mutation_p.E521K	p.E1677K	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			15	5654	+			1677					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.5029G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952786	0.53293	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.05717	3.4	4.5	2.62	0.31277	.	0.265225	0.26567	N	0.023649	T	0.06005	0.0156	L	0.29908	0.895	0.09310	N	1	P	0.51057	0.941	P	0.47015	0.534	T	0.33214	-0.9877	10	0.30078	T	0.28	.	7.0085	0.24849	0.2936:0.0:0.7064:0.0	.	1677	Q5VWN6	F208B_HUMAN	K	1677;872	ENSP00000328426:E1677K	ENSP00000328426:E1677K	E	+	1	0	C10orf18	5830419	0.009000	0.17119	0.005000	0.12908	0.002000	0.02628	1.734000	0.38166	0.886000	0.36113	-0.251000	0.11542	GAG		0.453	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2		NM_017782		9	51	0	0	0	0.105934	0	9	51		
PCDH15	65217	broad.mit.edu	37	10	55587219	55587219	+	Missense_Mutation	SNP	G	G	A	rs572629527		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:55587219G>A	ENST00000320301.6	-	32	4695	c.4301C>T	c.(4300-4302)gCg>gTg	p.A1434V	PCDH15_ENST00000395445.1_Missense_Mutation_p.A1441V|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1363V|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1434V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1436V|PCDH15_ENST00000373965.2_Missense_Mutation_p.A1441V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A1045V|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1394V|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1409V|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1431V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1434V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1434					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				cggcgggggcgCTGCCACTGG	0.577										HNSCC(58;0.16)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		10225	0.0		0.0	False		,,,				2504	0.0					uc001jju.1		NaN																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4300-4302)GCG>GTG		protocadherin 15 isoform CD1-4 precursor							41.0	49.0	46.0					10																	55587219		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587219G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4301C>T	10.37:g.55587219G>A	ENSP00000322604:p.Ala1434Val	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.A1439V|PCDH15_uc010qhr.1_Missense_Mutation_p.A1434V|PCDH15_uc010qhs.1_Missense_Mutation_p.A1446V|PCDH15_uc010qht.1_Missense_Mutation_p.A1441V|PCDH15_uc010qhu.1_Missense_Mutation_p.A1434V|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A1431V|PCDH15_uc010qhw.1_Missense_Mutation_p.A1394V|PCDH15_uc010qhx.1_Missense_Mutation_p.A1363V|PCDH15_uc010qhy.1_Missense_Mutation_p.A1439V|PCDH15_uc010qhz.1_Missense_Mutation_p.A1434V|PCDH15_uc010qia.1_Missense_Mutation_p.A1412V|PCDH15_uc010qib.1_Missense_Mutation_p.A1409V	p.A1434V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			32	4696	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1434			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4301C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825745	0.32237	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58060	2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95;0.36	5.42	1.44	0.22558	.	.	.	.	.	T	0.27629	0.0679	N	0.14661	0.345	0.09310	N	1	B;P;P;B;P;P;B;B;P;P;B;B;B	0.40794	0.448;0.708;0.708;0.448;0.454;0.708;0.448;0.103;0.729;0.552;0.103;0.127;0.308	B;B;B;B;B;B;B;B;B;B;B;B;B	0.33121	0.085;0.158;0.158;0.058;0.075;0.124;0.085;0.01;0.053;0.035;0.01;0.016;0.085	T	0.07849	-1.0751	9	0.37606	T	0.19	.	5.5011	0.16829	0.2275:0.1472:0.6253:0.0	.	1409;1434;1434;1439;1363;1394;1431;1434;1441;1441;1434;1436;1434	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	1441;1436;1434;1434;1045;1441;1394;1434;1409;1434;1431;1439;1363	ENSP00000363076:A1441V;ENSP00000410304:A1436V;ENSP00000378826:A1434V;ENSP00000386693:A1045V;ENSP00000378832:A1441V;ENSP00000378820:A1394V;ENSP00000354950:A1434V;ENSP00000378821:A1409V;ENSP00000322604:A1434V;ENSP00000378818:A1431V;ENSP00000412628:A1363V	ENSP00000322604:A1434V	A	-	2	0	PCDH15	55257225	0.000000	0.05858	0.000000	0.03702	0.569000	0.35902	0.291000	0.18994	0.069000	0.16605	0.591000	0.81541	GCG		0.577	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2		NM_033056		10	59	0	0	0	0.09319	0	10	59		
JMJD1C	221037	broad.mit.edu	37	10	64950860	64950860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:64950860C>T	ENST00000399262.2	-	17	6303	c.6085G>A	c.(6085-6087)Gaa>Aaa	p.E2029K	JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1847K|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1792K|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2029					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGGGTAAGTTCTTTGTTTTCT	0.398																																						uc001jmn.2		NaN																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(6085-6087)GAA>AAA		jumonji domain containing 1C isoform a							192.0	178.0	182.0					10																	64950860		1827	4077	5904	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64950860C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6085G>A	10.37:g.64950860C>T	ENSP00000382204:p.Glu2029Lys					JMJD1C_uc001jml.2_Missense_Mutation_p.E1792K|JMJD1C_uc001jmm.2_Missense_Mutation_p.E1741K|JMJD1C_uc010qiq.1_Missense_Mutation_p.E1847K|JMJD1C_uc009xpi.2_Missense_Mutation_p.E1847K|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'UTR	p.E2029K	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			17	6385	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2029					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.6085G>A	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928993	0.73327	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.56103	0.84;0.48;0.84	5.52	5.52	0.82312	.	0.470065	0.24368	N	0.039122	T	0.53769	0.1817	M	0.74881	2.28	0.80722	D	1	P;B	0.40066	0.701;0.006	B;B	0.33254	0.16;0.01	T	0.58194	-0.7679	9	.	.	.	-5.0912	19.3834	0.94546	0.0:1.0:0.0:0.0	.	2029;1847	Q15652;A0T124	JHD2C_HUMAN;.	K	2029;1792;1847	ENSP00000382204:E2029K;ENSP00000384990:E1792K;ENSP00000444682:E1847K	.	E	-	1	0	JMJD1C	64620866	1.000000	0.71417	0.997000	0.53966	0.835000	0.47333	5.057000	0.64294	2.758000	0.94735	0.650000	0.86243	GAA		0.398	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2		NM_004241		6	30	0	0	0	0.02938	0	6	30		
MAT1A	4143	broad.mit.edu	37	10	82043687	82043687	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:82043687C>T	ENST00000372213.3	-	3	537	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	93					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCTGAGTCATCGTAGCCGATG	0.587																																						uc001kbw.2		NaN																	0					0						c.(277-279)GAT>AAT		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						137.0	99.0	112.0					10																	82043687		2203	4300	6503	SO:0001583	missense	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82043687C>T		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.277G>A	10.37:g.82043687C>T	ENSP00000361287:p.Asp93Asn						p.D93N	NM_000429	NP_000420	Q00266	METK1_HUMAN	Colorectal(32;0.229)		3	532	-			93					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.277G>A	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722685	0.68959	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.90004	-2.6	5.78	5.78	0.91487	S-adenosylmethionine synthetase, N-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	L	0.55834	1.745	0.80722	D	1	B	0.26041	0.14	B	0.27796	0.083	D	0.84882	0.0831	10	0.56958	D	0.05	-34.7034	17.4952	0.87715	0.0:1.0:0.0:0.0	.	93	Q00266	METK1_HUMAN	N	93	ENSP00000361287:D93N	ENSP00000361280:D93N	D	-	1	0	MAT1A	82033667	1.000000	0.71417	0.345000	0.25642	0.725000	0.41563	7.487000	0.81328	2.744000	0.94065	0.591000	0.81541	GAT		0.587	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1		NM_000429		15	75	0	0	0	0.055883	0	15	75		
WAPAL	23063	broad.mit.edu	37	10	88206121	88206121	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:88206121T>C	ENST00000298767.5	-	16	3672	c.3200A>G	c.(3199-3201)gAt>gGt	p.D1067G	WAPAL_ENST00000372075.1_Missense_Mutation_p.D279G|WAPAL_ENST00000484070.1_5'Flank|WAPAL_ENST00000263070.7_Missense_Mutation_p.D279G	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1067	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TCCACTCTTATCATGCTGAGT	0.438																																						uc001kdo.2		NaN																	0				ovary(1)	1						c.(3199-3201)GAT>GGT		wings apart-like homolog							153.0	144.0	147.0					10																	88206121		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88206121T>C	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3200A>G	10.37:g.88206121T>C	ENSP00000298767:p.Asp1067Gly					WAPAL_uc009xsv.2_Missense_Mutation_p.D326G|WAPAL_uc001kdn.2_Missense_Mutation_p.D1104G|WAPAL_uc009xsw.2_Missense_Mutation_p.D1061G	p.D1067G	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			16	3642	-			1067			WAPL.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.3200A>G	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359865	0.82353	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T;T;T	0.47869	0.83;0.83;0.83	5.78	4.65	0.58169	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63390	0.2507	M	0.69823	2.125	0.49798	D	0.999829	P;D;P;P	0.89917	0.682;1.0;0.682;0.787	B;D;B;P	0.71414	0.287;0.973;0.287;0.603	T	0.60647	-0.7222	10	0.24483	T	0.36	.	11.7657	0.51928	0.0:0.0684:0.0:0.9316	.	1061;1105;1067;1104	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	G	1152;1067;1152;279;279	ENSP00000298767:D1067G;ENSP00000361145:D279G;ENSP00000263070:D279G	ENSP00000263070:D279G	D	-	2	0	WAPAL	88196101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.691000	0.84191	1.022000	0.39626	0.533000	0.62120	GAT		0.438	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2		NM_015045		9	90	0	0	0	0.069234	0	9	90		
CEP55	55165	broad.mit.edu	37	10	95275294	95275294	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:95275294A>G	ENST00000371485.3	+	5	965	c.661A>G	c.(661-663)Aaa>Gaa	p.K221E		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	221	Interaction with TSG101.				establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				ACAGCAGACAAAAAAGCCTGA	0.378																																						uc009xug.2		NaN																	0					0						c.(661-663)AAA>GAA		centrosomal protein 55kDa							79.0	84.0	83.0					10																	95275294		2203	4300	6503	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95275294A>G	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.661A>G	10.37:g.95275294A>G	ENSP00000360540:p.Lys221Glu					CEP55_uc001kiq.3_Missense_Mutation_p.K221E	p.K221E	NM_001127182	NP_001120654	Q53EZ4	CEP55_HUMAN			5	843	+		Colorectal(252;0.207)	221			Interaction with TSG101.		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.661A>G	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.286224	0.23478	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.19105	2.17	5.15	2.73	0.32206	.	0.691709	0.15339	N	0.267594	T	0.19287	0.0463	L	0.54323	1.7	0.41596	D	0.988829	B	0.31680	0.335	B	0.25140	0.058	T	0.02758	-1.1114	10	0.37606	T	0.19	-11.006	11.3345	0.49496	0.71:0.29:0.0:0.0	.	221	Q53EZ4	CEP55_HUMAN	E	221	ENSP00000360540:K221E	ENSP00000351102:K221E	K	+	1	0	CEP55	95265284	0.997000	0.39634	0.909000	0.35828	0.906000	0.53458	4.514000	0.60482	0.389000	0.25086	-0.313000	0.08912	AAA		0.378	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1		NM_018131		16	61	0	0	0	0.043863	0	16	61		
PDZD7	79955	broad.mit.edu	37	10	102789913	102789913	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:102789913G>A	ENST00000370215.3	-	2	289	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	SFXN3_ENST00000393459.1_5'Flank|PDZD7_ENST00000470414.1_Silent_p.L22L|SFXN3_ENST00000224807.5_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	22						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGGGAGCTCAGAGAGCCGGAG	0.662																																						uc001kso.1		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(64-66)CTG>TTG		PDZ domain containing 7							39.0	41.0	40.0					10																	102789913		2203	4300	6503	SO:0001819	synonymous_variant	79955					cilium|nucleus	protein binding	g.chr10:102789913G>A	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.64C>T	10.37:g.102789913G>A						PDZD7_uc001ksn.2_Silent_p.L22L|SFXN3_uc001ksp.2_5'Flank|SFXN3_uc001ksq.2_5'Flank|SFXN3_uc010qpx.1_5'Flank	p.L22L	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	279	-			22					D5FJ77|Q8N321	Silent	SNP	ENST00000370215.3	37	c.64C>T	CCDS31269.1																																																																																				0.662	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1		NM_024895		4	24	0	0	0	0.009096	0	4	24		
CFAP58	159686	broad.mit.edu	37	10	106214254	106214254	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:106214254G>T	ENST00000369704.3	+	18	2719	c.2585G>T	c.(2584-2586)gGa>gTa	p.G862V		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		862						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTGGGGGCGGATTTCCTCTC	0.463																																						uc001kyh.2		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(2584-2586)GGA>GTA		coiled-coil domain containing 147							160.0	149.0	153.0					10																	106214254		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106214254G>T																												ENST00000369704.3:c.2585G>T	10.37:g.106214254G>T	ENSP00000358718:p.Gly862Val						p.G862V	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	18	2719	+		Colorectal(252;0.103)|Breast(234;0.122)	862					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.2585G>T	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479700	0.44044	.	.	ENSG00000120051	ENST00000369704	D	0.85556	-2.0	5.47	5.47	0.80525	.	0.187572	0.45867	D	0.000325	D	0.93288	0.7861	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94029	0.7299	10	0.87932	D	0	-20.09	16.8366	0.85958	0.0:0.0:1.0:0.0	.	862	Q5T655	CC147_HUMAN	V	862	ENSP00000358718:G862V	ENSP00000358718:G862V	G	+	2	0	CCDC147	106204244	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	3.868000	0.56055	2.724000	0.93272	0.650000	0.86243	GGA		0.463	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1				19	102	1	0	1.56452e-12	0.043863	1.78343e-12	19	102		
PNLIP	5406	broad.mit.edu	37	10	118321149	118321149	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:118321149G>A	ENST00000369221.2	+	12	1362		c.e12+1			NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase						intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TTGGAAAACAGTAAGTAATGA	0.363																																						uc001lcm.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.e12+1		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						99.0	98.0	98.0					10																	118321149		2203	4300	6503	SO:0001630	splice_region_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118321149G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1334+1G>A	10.37:g.118321149G>A							p.Q445_splice	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	12	1377	+								Q5VSQ2	Splice_Site	SNP	ENST00000369221.2	37	c.1334_splice	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765860	0.31228	.	.	ENSG00000175535	ENST00000369221	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2471	0.93906	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNLIP	118311139	1.000000	0.71417	0.986000	0.45419	0.315000	0.28087	4.557000	0.60782	2.847000	0.97988	0.655000	0.94253	.		0.363	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1		NM_000936	Intron	19	70	0	0	0	0.083992	0	19	70		
SIGIRR	59307	broad.mit.edu	37	11	408082	408082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:408082G>A	ENST00000431843.2	-	4	637	c.331C>T	c.(331-333)Cag>Tag	p.Q111*	SIGIRR_ENST00000531205.1_Nonsense_Mutation_p.Q111*|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Nonsense_Mutation_p.Q111*|SIGIRR_ENST00000332725.3_Nonsense_Mutation_p.Q111*|SIGIRR_ENST00000397632.3_Nonsense_Mutation_p.Q111*	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	111					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGCTCTCTGAAGAGTGAAG	0.592																																						uc001lpd.2		NaN																	0					0						c.(331-333)CAG>TAG		single Ig IL-1R-related molecule							97.0	96.0	97.0					11																	408082		2202	4300	6502	SO:0001587	stop_gained	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:408082G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.331C>T	11.37:g.408082G>A	ENSP00000403104:p.Gln111*					SIGIRR_uc001lpf.2_Nonsense_Mutation_p.Q111*|SIGIRR_uc001lpe.1_Nonsense_Mutation_p.Q111*|SIGIRR_uc001lpg.2_Nonsense_Mutation_p.Q111*	p.Q111*	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	661	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	111			Extracellular (Potential).		Q3KQY2|Q6UXI3|Q9H733	Nonsense_Mutation	SNP	ENST00000431843.2	37	c.331C>T	CCDS31325.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.956538	0.73902	.	.	ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520	.	.	.	3.66	-7.32	0.01436	.	1.355960	0.04849	N	0.442012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5778	0.12243	0.1465:0.1198:0.6145:0.1192	.	.	.	.	X	111	.	ENSP00000333656:Q111X	Q	-	1	0	SIGIRR	398082	0.000000	0.05858	0.000000	0.03702	0.694000	0.40290	-0.020000	0.12525	-1.893000	0.01106	0.305000	0.20034	CAG		0.592	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3		NM_021805		18	69	0	0	0	0.055883	0	18	69		
EPS8L2	64787	broad.mit.edu	37	11	720214	720214	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:720214C>T	ENST00000533256.1	+	6	693	c.318C>T	c.(316-318)atC>atT	p.I106I	EPS8L2_ENST00000530636.1_Silent_p.I106I|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Silent_p.I106I|EPS8L2_ENST00000318562.8_Silent_p.I106I			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	106	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGACATCGAGTCACAGG	0.672																																						uc001lqt.2		NaN																	0				pancreas(1)	1						c.(316-318)ATC>ATT		epidermal growth factor receptor pathway							46.0	41.0	43.0					11																	720214		2203	4300	6503	SO:0001819	synonymous_variant	64787					cytoplasm		g.chr11:720214C>T	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.318C>T	11.37:g.720214C>T						EPS8L2_uc010qwj.1_Silent_p.I106I|EPS8L2_uc001lqu.2_Silent_p.I106I|EPS8L2_uc010qwk.1_Silent_p.I106I|EPS8L2_uc001lqv.2_Silent_p.I61I|EPS8L2_uc001lqw.2_5'Flank|EPS8L2_uc001lqx.2_5'Flank	p.I106I	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	565	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	106			PID.		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	c.318C>T	CCDS31328.1																																																																																				0.672	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1		NM_022772		6	31	0	0	0	0.038147	0	6	31		
TSSC4	10078	broad.mit.edu	37	11	2428020	2428020	+	IGR	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:2428020C>T	ENST00000333256.6	+	0	1686				TRPM5_ENST00000528453.1_Missense_Mutation_p.R1041K|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000155858.6_Missense_Mutation_p.R1041K|TRPM5_ENST00000533060.1_Missense_Mutation_p.R1041K|TRPM5_ENST00000452833.1_Missense_Mutation_p.R1043K			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4											endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCAGGTCTCTCTCTGGGAA	0.632																																						uc001lwm.3		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(3121-3123)AGA>AAA		transient receptor potential cation channel,							58.0	59.0	59.0					11																	2428020		2201	4299	6500	SO:0001628	intergenic_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2428020C>T	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895		11.37:g.2428020C>T						TRPM5_uc010qxl.1_Missense_Mutation_p.R1041K|TRPM5_uc009ydn.2_Missense_Mutation_p.R1043K	p.R1041K	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	21	3131	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	1041			Cytoplasmic (Potential).		C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	c.3122G>A	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	C	2.310	-0.358019	0.05138	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.60920	0.32;0.27;0.27;0.15;0.27	3.81	3.81	0.43845	.	0.058303	0.64402	D	0.000003	T	0.39009	0.1062	L	0.37630	1.12	0.26563	N	0.973691	B;B;B	0.26876	0.162;0.162;0.081	B;B;B	0.25140	0.058;0.058;0.034	T	0.28681	-1.0036	10	0.02654	T	1	-10.5989	9.1007	0.36667	0.2189:0.7811:0.0:0.0	.	1041;1043;1041	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	K	1035;1041;1043;1041;1041	ENSP00000434383:R1035K;ENSP00000155858:R1041K;ENSP00000387965:R1043K;ENSP00000434121:R1041K;ENSP00000436809:R1041K	ENSP00000155858:R1041K	R	-	2	0	TRPM5	2384596	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	1.773000	0.38563	1.863000	0.54032	0.561000	0.74099	AGA		0.632	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3		NM_005706		6	44	0	0	0	0.038147	0	6	44		
ZNF214	7761	broad.mit.edu	37	11	7022459	7022459	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:7022459C>G	ENST00000278314.4	-	3	770	c.455G>C	c.(454-456)aGa>aCa	p.R152T	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.R152T	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GTAGATTTCTCTACCATAGTC	0.378																																					Ovarian(22;251 657 736 21522 46864)	uc001mfa.2		NaN																	0				skin(1)	1						c.(454-456)AGA>ACA		zinc finger protein 214							114.0	115.0	115.0					11																	7022459		2201	4295	6496	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7022459C>G	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.455G>C	11.37:g.7022459C>G	ENSP00000278314:p.Arg152Thr					ZNF214_uc010ray.1_Missense_Mutation_p.R152T|ZNF214_uc009yfh.1_Missense_Mutation_p.R152T	p.R152T	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	758	-			152					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.455G>C	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	3.305	-0.142035	0.06669	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.12984	2.63;2.63	4.16	0.0951	0.14484	.	0.276343	0.26300	N	0.025170	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	P	0.38195	0.622	B	0.34991	0.193	T	0.42949	-0.9421	10	0.21540	T	0.41	.	8.0988	0.30844	0.0:0.6412:0.0:0.3588	.	152	Q9UL59	ZN214_HUMAN	T	152	ENSP00000278314:R152T;ENSP00000445373:R152T	ENSP00000278314:R152T	R	-	2	0	ZNF214	6979035	0.000000	0.05858	0.249000	0.24280	0.441000	0.31987	-0.652000	0.05366	-0.064000	0.13043	-0.258000	0.10820	AGA		0.378	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1				12	74	0	0	0	0.105934	0	12	74		
AMBRA1	55626	broad.mit.edu	37	11	46567156	46567156	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:46567156G>C	ENST00000458649.2	-	5	967	c.549C>G	c.(547-549)gtC>gtG	p.V183V	AMBRA1_ENST00000528950.1_Silent_p.V183V|AMBRA1_ENST00000298834.3_Silent_p.V183V|AMBRA1_ENST00000534300.1_Silent_p.V183V|AMBRA1_ENST00000533727.1_Silent_p.V183V|AMBRA1_ENST00000426438.1_Silent_p.V183V|AMBRA1_ENST00000314845.3_Silent_p.V183V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	183					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCACTCACCGGACCCGTTCCA	0.547																																						uc010rgu.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(547-549)GTC>GTG		activating molecule in beclin-1-regulated							128.0	105.0	113.0					11																	46567156		2201	4299	6500	SO:0001819	synonymous_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46567156G>C	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.549C>G	11.37:g.46567156G>C						AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Silent_p.V183V|AMBRA1_uc001ncu.1_Silent_p.V183V|AMBRA1_uc001ncv.2_Silent_p.V183V|AMBRA1_uc001ncw.2_Silent_p.V183V|AMBRA1_uc001ncx.2_Silent_p.V183V	p.V183V	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	5	909	-			183					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37	c.549C>G																																																																																					0.547	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1		NM_017749		14	97	0	0	0	0.028581	0	14	97		
AMBRA1	55626	broad.mit.edu	37	11	46567257	46567257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:46567257G>A	ENST00000458649.2	-	5	866	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q150*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	150					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGCAGGAGCTGAGCCGTAGGG	0.527																																						uc010rgu.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(448-450)CAG>TAG		activating molecule in beclin-1-regulated							107.0	89.0	95.0					11																	46567257		2201	4299	6500	SO:0001587	stop_gained	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46567257G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.448C>T	11.37:g.46567257G>A	ENSP00000415327:p.Gln150*					AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncv.2_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.Q150*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.Q150*	p.Q150*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	5	808	-			150			WD 3.		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Nonsense_Mutation	SNP	ENST00000458649.2	37	c.448C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.468466	0.97590	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	.	.	.	X	150	.	ENSP00000298834:Q150X	Q	-	1	0	AMBRA1	46523833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.706000	0.98722	2.814000	0.96858	0.591000	0.81541	CAG		0.527	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1		NM_017749		13	57	0	0	0	0.024245	0	13	57		
ZDHHC5	25921	broad.mit.edu	37	11	57457644	57457644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:57457644G>A	ENST00000287169.3	+	5	1888	c.526G>A	c.(526-528)Gag>Aag	p.E176K	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.E123K	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	176					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CTACCACATAGAGGAACTCTC	0.502																																						uc001nkx.1		NaN																	0				skin(1)	1						c.(526-528)GAG>AAG		zinc finger, DHHC domain containing 5							127.0	122.0	124.0					11																	57457644		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57457644G>A	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.526G>A	11.37:g.57457644G>A	ENSP00000287169:p.Glu176Lys					ZDHHC5_uc001nky.1_Missense_Mutation_p.E123K|ZDHHC5_uc001nkz.1_5'UTR	p.E176K	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN			5	1782	+			176					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.526G>A	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658183	0.67586	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000528177;ENST00000532842	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.08	5.08	0.68730	.	0.124148	0.56097	D	0.000032	T	0.30293	0.0760	L	0.45228	1.405	0.48087	D	0.999584	B	0.34241	0.444	B	0.41135	0.348	T	0.02909	-1.1095	10	0.33141	T	0.24	-20.0472	17.4102	0.87482	0.0:0.0:1.0:0.0	.	176	Q9C0B5	ZDHC5_HUMAN	K	123;176;74;74	ENSP00000432202:E123K;ENSP00000287169:E176K;ENSP00000431209:E74K;ENSP00000435593:E74K	ENSP00000287169:E176K	E	+	1	0	ZDHHC5	57214220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.786000	0.55431	2.634000	0.89283	0.563000	0.77884	GAG		0.502	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1		NM_015457		6	75	0	0	0	0.021553	0	6	75		
VWCE	220001	broad.mit.edu	37	11	61026231	61026231	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:61026231G>C	ENST00000335613.5	-	20	3170	c.2784C>G	c.(2782-2784)ctC>ctG	p.L928L	VWCE_ENST00000535710.1_Silent_p.L393L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	928						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCTGTGGAGAGTCTAGAGG	0.642																																						uc001nra.2		NaN																	0				ovary(1)	1						c.(2782-2784)CTC>CTG		von Willebrand factor C and EGF domains							51.0	58.0	56.0					11																	61026231		2202	4298	6500	SO:0001819	synonymous_variant	220001					extracellular region	calcium ion binding	g.chr11:61026231G>C	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2784C>G	11.37:g.61026231G>C						VWCE_uc001nrb.2_RNA	p.L928L	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			20	3063	-			928					A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	c.2784C>G	CCDS8002.1																																																																																				0.642	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1		NM_152718		13	64	0	0	0	0.0333	0	13	64		
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:62296070A>G	ENST00000378024.4	-	5	6093	c.5819T>C	c.(5818-5820)gTg>gCg	p.V1940A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1940					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(5818-5820)GTG>GCG		AHNAK nucleoprotein isoform 1							212.0	223.0	219.0					11																	62296070		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296070A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5819T>C	11.37:g.62296070A>G	ENSP00000367263:p.Val1940Ala					AHNAK_uc001ntk.1_Intron	p.V1940A	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	6119	-		Melanoma(852;0.155)	1940					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5819T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	4.561	0.104230	0.08731	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.01347	4.99	2.29	0.902	0.19290	.	.	.	.	.	T	0.03651	0.0104	M	0.91663	3.23	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21861	-1.0233	9	0.46703	T	0.11	.	7.4842	0.27423	0.8688:0.0:0.1312:0.0	.	1940	Q09666	AHNK_HUMAN	A	29;1940	ENSP00000367263:V1940A	ENSP00000244934:V29A	V	-	2	0	AHNAK	62052646	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.071000	0.14594	-0.202000	0.10268	-2.704000	0.00135	GTG		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		5	259	0	0	0	0.014758	0	5	259		
RCOR2	283248	broad.mit.edu	37	11	63681907	63681907	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:63681907C>T	ENST00000301459.4	-	6	974	c.587G>A	c.(586-588)cGc>cAc	p.R196H	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	196					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TTTGTCCTTGCGGCCCCCCAG	0.602																																						uc001nyc.2		NaN																	0				ovary(1)|skin(1)	2						c.(586-588)CGC>CAC		REST corepressor 2							47.0	56.0	53.0					11																	63681907		2201	4297	6498	SO:0001583	missense	283248				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr11:63681907C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.587G>A	11.37:g.63681907C>T	ENSP00000301459:p.Arg196His						p.R196H	NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN			6	975	-			196					Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.587G>A	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514375	0.64522	.	.	ENSG00000167771	ENST00000301459	T	0.36878	1.23	4.37	4.37	0.52481	.	0.219871	0.38605	N	0.001632	T	0.29783	0.0744	L	0.59436	1.845	0.32354	N	0.558028	P	0.49783	0.928	B	0.39027	0.288	T	0.49597	-0.8923	10	0.46703	T	0.11	.	7.1368	0.25533	0.0:0.8048:0.0:0.1952	.	196	Q8IZ40	RCOR2_HUMAN	H	196	ENSP00000301459:R196H	ENSP00000301459:R196H	R	-	2	0	RCOR2	63438483	0.998000	0.40836	0.985000	0.45067	0.900000	0.52787	3.305000	0.51873	2.152000	0.67230	0.561000	0.74099	CGC		0.602	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1		NM_173587		4	97	0	0	0	0.014758	0	4	97		
ZFPL1	7542	broad.mit.edu	37	11	64855481	64855481	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:64855481C>T	ENST00000294258.3	+	8	980	c.828C>T	c.(826-828)ttC>ttT	p.F276F	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	276					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TGCTGGGCTTCCTGGCCCTCC	0.687																																						uc001ocq.1		NaN																	0				ovary(1)	1						c.(826-828)TTC>TTT		zinc finger protein-like 1							73.0	71.0	72.0					11																	64855481		2201	4297	6498	SO:0001819	synonymous_variant	7542				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	g.chr11:64855481C>T		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.828C>T	11.37:g.64855481C>T							p.F276F	NM_006782	NP_006773	O95159	ZFPL1_HUMAN			8	993	+			276			Helical; (Potential).		A8K7E9|O14616|Q9UID0	Silent	SNP	ENST00000294258.3	37	c.828C>T	CCDS8092.1																																																																																				0.687	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1		NM_006782		7	101	0	0	0	0.02938	0	7	101		
ANO1	55107	broad.mit.edu	37	11	70003070	70003070	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:70003070G>A	ENST00000355303.5	+	16	1826	c.1521G>A	c.(1519-1521)ctG>ctA	p.L507L	ANO1_ENST00000538023.1_Silent_p.L507L|ANO1_ENST00000531349.1_Silent_p.L216L|ANO1_ENST00000530676.1_Silent_p.L361L|ANO1_ENST00000398543.2_Silent_p.L361L|ANO1_ENST00000316296.5_Silent_p.L449L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	507					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	AAGTGAAGCTGACATGGAGAG	0.502																																						uc001opj.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1519-1521)CTG>CTA		anoctamin 1, calcium activated chloride channel							132.0	131.0	131.0					11																	70003070		2153	4255	6408	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70003070G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1521G>A	11.37:g.70003070G>A						ANO1_uc001opk.1_Silent_p.L449L|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.L216L	p.L507L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			16	1826	+			507			Cytoplasmic (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.1521G>A	CCDS44663.1																																																																																				0.502	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1		NM_018043		4	17	0	0	0	0.014758	0	4	17		
FAT3	120114	broad.mit.edu	37	11	92616261	92616261	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:92616261C>T	ENST00000298047.6	+	23	12656	c.12639C>T	c.(12637-12639)cgC>cgT	p.R4213R	FAT3_ENST00000525166.1_Silent_p.R4063R|FAT3_ENST00000409404.2_Silent_p.R4213R|FAT3_ENST00000533797.1_Silent_p.R548R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4213					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAACCTGCGCGGCAGTGGGG	0.657										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(12637-12639)CGC>CGT		FAT tumor suppressor homolog 3							52.0	64.0	60.0					11																	92616261		1967	4146	6113	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616261C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12639C>T	11.37:g.92616261C>T		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.R653R	p.R4213R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12656	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4213			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.12639C>T																																																																																					0.657	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		15	72	0	0	0	0.0333	0	15	72		
EXPH5	23086	broad.mit.edu	37	11	108384321	108384321	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:108384321C>T	ENST00000265843.4	-	6	2023	c.1913G>A	c.(1912-1914)aGa>aAa	p.R638K	EXPH5_ENST00000428840.1_Missense_Mutation_p.R562K|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.R450K|EXPH5_ENST00000525344.1_Missense_Mutation_p.R631K	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	638					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGATTCCTTCTGTCATCAGA	0.408																																						uc001pkk.2		NaN																	0				skin(3)|ovary(2)	5						c.(1912-1914)AGA>AAA		exophilin 5 isoform a							99.0	101.0	100.0					11																	108384321		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384321C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1913G>A	11.37:g.108384321C>T	ENSP00000265843:p.Arg638Lys					EXPH5_uc010rvy.1_Missense_Mutation_p.R450K|EXPH5_uc010rvz.1_Missense_Mutation_p.R482K|EXPH5_uc010rwa.1_Missense_Mutation_p.R562K	p.R638K	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	2024	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	638					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.1913G>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	1.357	-0.589766	0.03799	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.03717	4.38;4.3;4.15;4.38;4.23;3.83	6.03	-10.8	0.00216	.	1.645660	0.02789	N	0.121875	T	0.03564	0.0102	L	0.60455	1.87	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.49341	-0.8950	10	0.02654	T	1	-0.7877	10.5109	0.44862	0.0:0.6042:0.2307:0.1651	.	638	Q8NEV8	EXPH5_HUMAN	K	638;562;450;631;482;562;450	ENSP00000265843:R638K;ENSP00000391966:R562K;ENSP00000411390:R450K;ENSP00000432546:R631K;ENSP00000432683:R562K;ENSP00000446434:R450K	ENSP00000265843:R638K	R	-	2	0	EXPH5	107889531	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.869000	0.04232	-1.753000	0.01323	-0.259000	0.10710	AGA		0.408	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1		NM_015065		12	75	0	0	0	0.024245	0	12	75		
HSPB2	3316	broad.mit.edu	37	11	111784264	111784264	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:111784264C>A	ENST00000304298.3	+	2	782	c.194C>A	c.(193-195)tCc>tAc	p.S65Y	CRYAB_ENST00000525823.1_5'Flank|CRYAB_ENST00000227251.3_5'Flank|CRYAB_ENST00000526180.1_5'Flank|HSPB2_ENST00000537382.1_Missense_Mutation_p.S65Y|CRYAB_ENST00000531198.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000533280.1_5'Flank|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000533971.1_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	65					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GCAGGGGCCTCCGAGCTTAGG	0.622																																						uc001pmg.2		NaN																	0				ovary(2)|skin(1)	3						c.(193-195)TCC>TAC		heat shock 27kDa protein 2							93.0	97.0	96.0					11																	111784264		2201	4297	6498	SO:0001583	missense	3316				response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding	g.chr11:111784264C>A	U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"""Heat shock proteins / HSPB"""	5247	protein-coding gene	gene with protein product		602179	"""heat shock 27kD protein 2"""			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.194C>A	11.37:g.111784264C>A	ENSP00000302476:p.Ser65Tyr					CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron	p.S65Y	NM_001541	NP_001532	Q16082	HSPB2_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	2	288	+		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	65					Q6I9U7	Missense_Mutation	SNP	ENST00000304298.3	37	c.194C>A	CCDS8352.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059860	0.76074	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.92048	-2.96;-2.96	4.84	4.84	0.62591	HSP20-like chaperone (1);	0.320335	0.30219	N	0.010130	D	0.94162	0.8127	L	0.61218	1.895	0.49389	D	0.999788	D	0.64830	0.994	P	0.55667	0.781	D	0.94703	0.7885	10	0.87932	D	0	-13.1846	18.4921	0.90852	0.0:1.0:0.0:0.0	.	65	Q16082	HSPB2_HUMAN	Y	65	ENSP00000302476:S65Y;ENSP00000445585:S65Y	ENSP00000302476:S65Y	S	+	2	0	HSPB2	111289474	1.000000	0.71417	0.575000	0.28536	0.984000	0.73092	6.006000	0.70724	2.688000	0.91661	0.650000	0.86243	TCC		0.622	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1				7	106	1	0	0.000157383	0.038147	0.000165761	7	106		
USP28	57646	broad.mit.edu	37	11	113683113	113683113	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:113683113G>A	ENST00000003302.4	-	16	1925	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	USP28_ENST00000545540.1_Silent_p.I494I|USP28_ENST00000544967.1_Silent_p.I327I|USP28_ENST00000260188.5_Silent_p.I619I	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	619	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CAGTAACAGAGATGTCATTGT	0.418																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NaN																	0				lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(1855-1857)ATC>ATT		ubiquitin specific protease 28							148.0	149.0	149.0					11																	113683113		2201	4296	6497	SO:0001819	synonymous_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683113G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1857C>T	11.37:g.113683113G>A						USP28_uc001pog.2_Silent_p.I327I|USP28_uc010rwy.1_Silent_p.I494I|USP28_uc001poi.2_5'UTR	p.I619I	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1890	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	619					B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	37	c.1857C>T	CCDS31680.1																																																																																				0.418	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1				10	77	0	0	0	0.058154	0	10	77		
FOXR1	283150	broad.mit.edu	37	11	118851213	118851213	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:118851213T>C	ENST00000317011.3	+	5	850	c.625T>C	c.(625-627)Ttt>Ctt	p.F209L		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	209					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCACTTCCCCTTTTTCCGGAC	0.562																																						uc001pui.2		NaN																	0				skin(1)	1						c.(625-627)TTT>CTT		forkhead box R1							61.0	66.0	64.0					11																	118851213		2200	4295	6495	SO:0001583	missense	283150				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr11:118851213T>C	AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"""Forkhead boxes"""	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.625T>C	11.37:g.118851213T>C	ENSP00000314806:p.Phe209Leu					FOXR1_uc001puj.2_Intron|FOXR1_uc001puk.2_Missense_Mutation_p.F40L	p.F209L	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	5	850	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	209			Fork-head.		B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	c.625T>C	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318699	0.81469	.	.	ENSG00000176302	ENST00000317011;ENST00000533282	D	0.95980	-3.87	5.42	5.42	0.78866	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98561	1.0641	10	0.87932	D	0	.	13.424	0.61015	0.0:0.0:0.0:1.0	.	209	Q6PIV2	FOXR1_HUMAN	L	209;114	ENSP00000314806:F209L	ENSP00000314806:F209L	F	+	1	0	FOXR1	118356423	1.000000	0.71417	0.996000	0.52242	0.219000	0.24729	6.447000	0.73465	2.051000	0.60960	0.455000	0.32223	TTT		0.562	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1		NM_181721		3	74	0	0	0	0.009096	0	3	74		
OR8B8	26493	broad.mit.edu	37	11	124310774	124310774	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:124310774C>A	ENST00000328064.2	-	1	280	c.208G>T	c.(208-210)Gat>Tat	p.D70Y		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	70					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGCAGAAATCTATGAAGGAC	0.453																																						uc010sal.1		NaN																	0				ovary(1)	1						c.(208-210)GAT>TAT		olfactory receptor, family 8, subfamily B,							112.0	114.0	113.0					11																	124310774		2201	4299	6500	SO:0001583	missense	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310774C>A	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.208G>T	11.37:g.124310774C>A	ENSP00000330280:p.Asp70Tyr						p.D70Y	NM_012378	NP_036510	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	208	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	70			Helical; Name=2; (Potential).		A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	c.208G>T	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874689	0.72180	.	.	ENSG00000197125	ENST00000328064	T	0.01185	5.21	3.52	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000107	T	0.12305	0.0299	H	0.97023	3.925	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.16482	-1.0401	10	0.87932	D	0	.	15.9879	0.80176	0.0:1.0:0.0:0.0	.	70	Q15620	OR8B8_HUMAN	Y	70	ENSP00000330280:D70Y	ENSP00000330280:D70Y	D	-	1	0	OR8B8	123815984	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.312000	0.78968	2.257000	0.74773	0.557000	0.71058	GAT		0.453	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1		NM_012378		5	56	1	0	0.000602214	0.014758	0.000629484	5	56		
CLEC4A	50856	broad.mit.edu	37	12	8288244	8288244	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:8288244C>G	ENST00000229332.5	+	4	609	c.362C>G	c.(361-363)tCt>tGt	p.S121C	CLEC4A_ENST00000345999.3_Missense_Mutation_p.S49C|CLEC4A_ENST00000352620.3_Missense_Mutation_p.S88C|CLEC4A_ENST00000360500.3_Missense_Mutation_p.S82C	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	121	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TACTTTATTTCTACTGAATCA	0.438																																						uc001qtz.1		NaN																	0					0						c.(361-363)TCT>TGT		C-type lectin domain family 4, member A isoform							100.0	92.0	94.0					12																	8288244		2203	4300	6503	SO:0001583	missense	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8288244C>G	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.362C>G	12.37:g.8288244C>G	ENSP00000229332:p.Ser121Cys					CLEC4A_uc009zga.1_Missense_Mutation_p.S82C|CLEC4A_uc001qub.1_Missense_Mutation_p.S88C|CLEC4A_uc001quc.1_Missense_Mutation_p.S49C|CLEC4A_uc009zgb.1_Intron|uc010sgi.1_5'Flank	p.S121C	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	4	609	+			121			Extracellular (Potential).|C-type lectin.		Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	c.362C>G	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029260	0.54790	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.06	4.06	0.47325	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.420300	0.17744	N	0.163464	T	0.55909	0.1950	H	0.94658	3.565	0.19575	N	0.999967	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.993;0.993;0.971	T	0.54289	-0.8316	10	0.72032	D	0.01	.	12.042	0.53458	0.0:1.0:0.0:0.0	.	82;49;88;121	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	C	121;49;88;82	ENSP00000229332:S121C;ENSP00000344646:S49C;ENSP00000247243:S88C;ENSP00000353690:S82C	ENSP00000229332:S121C	S	+	2	0	CLEC4A	8179511	0.023000	0.18921	0.107000	0.21349	0.235000	0.25334	1.881000	0.39638	2.557000	0.86248	0.650000	0.86243	TCT		0.438	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1		NM_194450		3	69	0	0	0	0.004672	0	3	69		
EPS8	2059	broad.mit.edu	37	12	15815014	15815014	+	Silent	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:15815014A>G	ENST00000281172.5	-	9	1192	c.756T>C	c.(754-756)taT>taC	p.Y252Y	EPS8_ENST00000543612.1_Silent_p.Y252Y|EPS8_ENST00000543523.1_Silent_p.Y252Y|EPS8_ENST00000540613.1_5'UTR|EPS8_ENST00000542903.1_5'UTR	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	252					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CCTGCTCATGATACTGCCTTG	0.383																																						uc009zif.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(754-756)TAT>TAC		epidermal growth factor receptor pathway							231.0	220.0	224.0					12																	15815014		2203	4300	6503	SO:0001819	synonymous_variant	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15815014A>G	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.756T>C	12.37:g.15815014A>G						EPS8_uc001rdb.2_Silent_p.Y252Y|EPS8_uc009zig.2_5'UTR|EPS8_uc010shv.1_5'UTR	p.Y252Y	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	9	850	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	252					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	ENST00000281172.5	37	c.756T>C	CCDS31753.1																																																																																				0.383	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1				3	136	0	0	0	0.009096	0	3	136		
SOX5	6660	broad.mit.edu	37	12	24048864	24048864	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:24048864C>A	ENST00000451604.2	-	2	234	c.133G>T	c.(133-135)Gac>Tac	p.D45Y	SOX5_ENST00000541536.1_Missense_Mutation_p.D32Y|SOX5_ENST00000309359.1_Missense_Mutation_p.D32Y|SOX5_ENST00000381381.2_Missense_Mutation_p.D32Y|SOX5_ENST00000545921.1_Missense_Mutation_p.D35Y|SOX5_ENST00000546136.1_Missense_Mutation_p.D32Y|SOX5_ENST00000541847.1_Missense_Mutation_p.D35Y|SOX5_ENST00000537393.1_Missense_Mutation_p.D45Y|SOX5_ENST00000441133.2_Missense_Mutation_p.D45Y			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	45					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GGGAGCCCGTCACTCTCCTCT	0.527																																						uc001rfw.2		NaN																	0				ovary(5)|lung(1)	6						c.(133-135)GAC>TAC		SRY (sex determining region Y)-box 5 isoform a							246.0	232.0	236.0					12																	24048864		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:24048864C>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.133G>T	12.37:g.24048864C>A	ENSP00000398273:p.Asp45Tyr					SOX5_uc001rfx.2_Missense_Mutation_p.D32Y|SOX5_uc001rfy.2_Missense_Mutation_p.D32Y|SOX5_uc010siv.1_Missense_Mutation_p.D32Y|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.D32Y|SOX5_uc001rga.2_Missense_Mutation_p.D45Y	p.D45Y	NM_006940	NP_008871	P35711	SOX5_HUMAN			2	235	-			45					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.133G>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.912299	0.52439	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.97529	-4.41;-4.41;-4.42;-4.41;-4.37;-4.42;-4.41	6.01	5.12	0.69794	.	0.162995	0.53938	D	0.000046	D	0.97467	0.9171	L	0.53249	1.67	0.48185	D	0.999603	P;D;P;P	0.54397	0.763;0.966;0.891;0.885	B;P;B;P	0.62649	0.325;0.905;0.347;0.75	D	0.97492	1.0054	10	0.87932	D	0	.	14.6967	0.69126	0.0:0.9312:0.0:0.0688	.	45;45;32;45	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	Y	32;32;32;45;32;45;32;35;35;45;32	ENSP00000437487:D32Y;ENSP00000308927:D32Y;ENSP00000370788:D32Y;ENSP00000398273:D45Y;ENSP00000439832:D45Y;ENSP00000441973:D32Y;ENSP00000443520:D35Y	ENSP00000308927:D32Y	D	-	1	0	SOX5	23940131	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.479000	0.66813	2.861000	0.98227	0.650000	0.86243	GAC		0.527	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2		NM_006940		35	183	1	0	1.04594e-18	0.086207	1.20719e-18	35	183		
KRT2	3849	broad.mit.edu	37	12	53044194	53044194	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:53044194G>A	ENST00000309680.3	-	2	750	c.729C>T	c.(727-729)ctC>ctT	p.L243L		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	243	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.L243L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTTCTGCAGTGAGCCCATCCA	0.488																																						uc001sat.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(727-729)CTC>CTT		keratin 2							211.0	204.0	207.0					12																	53044194		2203	4300	6503	SO:0001819	synonymous_variant	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53044194G>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.729C>T	12.37:g.53044194G>A							p.L243L	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	2	762	-			243			Coil 1B.|Rod.		Q4VAQ2	Silent	SNP	ENST00000309680.3	37	c.729C>T	CCDS8835.1																																																																																				0.488	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1		NM_000423		47	177	0	0	0	0.048971	0	47	177		
SLC26A10	65012	broad.mit.edu	37	12	58017661	58017661	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:58017661C>T	ENST00000320442.4	+	8	1407	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	SLC26A10_ENST00000379218.2_Silent_p.L366L	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	366						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GTCGGTGCTGCTGTGGCTGGG	0.562																																						uc001spe.2		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1096-1098)CTG>TTG		solute carrier family 26, member 10							99.0	101.0	100.0					12																	58017661		2203	4300	6503	SO:0001819	synonymous_variant	65012					integral to membrane	antiporter activity	g.chr12:58017661C>T		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1096C>T	12.37:g.58017661C>T						SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_5'Flank	p.L366L	NM_133489	NP_597996	Q8NG04	S2610_HUMAN			8	1407	+	Melanoma(17;0.122)		366			Helical; (Potential).		A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	ENST00000320442.4	37	c.1096C>T	CCDS8949.2																																																																																				0.562	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2				14	84	0	0	0	0.024245	0	14	84		
USP15	9958	broad.mit.edu	37	12	62783261	62783261	+	Silent	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:62783261A>G	ENST00000280377.5	+	12	1582	c.1524A>G	c.(1522-1524)gcA>gcG	p.A508A	USP15_ENST00000393654.3_Silent_p.A483A|USP15_ENST00000353364.3_Silent_p.A479A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	508	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTTGTACAGCATTGTCTGCTT	0.308																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.1		NaN																	0				ovary(2)|lung(1)	3						c.(1522-1524)GCA>GCG		ubiquitin specific peptidase 15							110.0	115.0	113.0					12																	62783261		2203	4300	6503	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62783261A>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1524A>G	12.37:g.62783261A>G						USP15_uc001srb.1_Silent_p.A479A	p.A508A	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	12	1533	+			508					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.1524A>G	CCDS58251.1																																																																																				0.308	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2		NM_006313		14	51	0	0	0	0.0333	0	14	51		
USP15	9958	broad.mit.edu	37	12	62798096	62798096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:62798096G>A	ENST00000280377.5	+	22	2945	c.2887G>A	c.(2887-2889)Gaa>Aaa	p.E963K	USP15_ENST00000393654.3_Missense_Mutation_p.E938K|USP15_ENST00000353364.3_Missense_Mutation_p.E934K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	963					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGAAAGTGATGAAGATAGCAA	0.403																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.1		NaN																	0				ovary(2)|lung(1)	3						c.(2887-2889)GAA>AAA		ubiquitin specific peptidase 15							92.0	91.0	91.0					12																	62798096		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62798096G>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2887G>A	12.37:g.62798096G>A	ENSP00000280377:p.Glu963Lys					USP15_uc001srb.1_Missense_Mutation_p.E934K	p.E963K	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	22	2896	+			963					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.2887G>A	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106075	0.56291	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.19250	2.16;2.16;2.16	5.52	5.52	0.82312	.	0.236737	0.42548	D	0.000695	T	0.16896	0.0406	N	0.08118	0	0.58432	D	0.999994	P;P	0.49783	0.882;0.928	B;P	0.46975	0.332;0.533	T	0.10222	-1.0639	9	.	.	.	-16.5601	19.4419	0.94824	0.0:0.0:1.0:0.0	.	963;934	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	K	934;963;938	ENSP00000258123:E934K;ENSP00000280377:E963K;ENSP00000377264:E938K	.	E	+	1	0	USP15	61084363	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.028000	0.64115	2.593000	0.87608	0.650000	0.86243	GAA		0.403	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2		NM_006313		14	46	0	0	0	0.020292	0	14	46		
GRIP1	23426	broad.mit.edu	37	12	66770815	66770815	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:66770815C>T	ENST00000398016.3	-	21	2672	c.2604G>A	c.(2602-2604)ttG>ttA	p.L868L	GRIP1_ENST00000286445.7_Intron|GRIP1_ENST00000359742.4_Silent_p.L920L	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCATGTTTCTCAAAGACACAC	0.393																																						uc001stk.2		NaN																	0				ovary(2)	2						c.(2602-2604)TTG>TTA		glutamate receptor interacting protein 1							124.0	124.0	124.0					12																	66770815		1863	4096	5959	SO:0001819	synonymous_variant	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66770815C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2604G>A	12.37:g.66770815C>T						GRIP1_uc010sta.1_Silent_p.L812L|GRIP1_uc001stj.2_Intron|GRIP1_uc001stl.1_Intron|GRIP1_uc001stm.2_Intron	p.L868L	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	21	2845	-			920					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	c.2604G>A	CCDS41807.1																																																																																				0.393	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2				15	95	0	0	0	0.028581	0	15	95		
ATP2B1	490	broad.mit.edu	37	12	90036059	90036059	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:90036059C>G	ENST00000428670.3	-	3	738	c.282G>C	c.(280-282)aaG>aaC	p.K94N	ATP2B1_ENST00000261173.2_Missense_Mutation_p.K94N|ATP2B1_ENST00000348959.3_Missense_Mutation_p.K94N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K94N			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	94					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AGGTTTTTGGCTTTTTAGGAG	0.318																																						uc001tbh.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(280-282)AAG>AAC		plasma membrane calcium ATPase 1 isoform 1b							206.0	241.0	229.0					12																	90036059		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90036059C>G	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.282G>C	12.37:g.90036059C>G	ENSP00000392043:p.Lys94Asn					ATP2B1_uc001tbg.2_Missense_Mutation_p.K94N	p.K94N	NM_001682	NP_001673	P20020	AT2B1_HUMAN			2	463	-			94			Cytoplasmic (Potential).		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.282G>C	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029266	0.93518	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.97201	0.9085	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;0.98	D;D	0.83275	0.996;0.914	D	0.97884	1.0293	9	.	.	.	-28.0264	19.9721	0.97287	0.0:1.0:0.0:0.0	.	94;94	P20020-3;P20020-2	.;.	N	94	ENSP00000261173:K94N;ENSP00000343599:K94N;ENSP00000352054:K94N;ENSP00000392043:K94N	.	K	-	3	2	ATP2B1	88560190	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.921000	0.63397	2.724000	0.93272	0.462000	0.41574	AAG		0.318	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1		NM_001682		41	241	0	0	0	0.048971	0	41	241		
EEA1	8411	broad.mit.edu	37	12	93247696	93247696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:93247696G>A	ENST00000322349.8	-	6	665	c.401C>T	c.(400-402)tCa>tTa	p.S134L		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	134					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTTACCTGCTGATGAATCAGT	0.308																																						uc001tck.2		NaN																	0				ovary(2)|skin(1)	3						c.(400-402)TCA>TTA		early endosome antigen 1, 162kD							46.0	43.0	44.0					12																	93247696		2202	4297	6499	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93247696G>A	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.401C>T	12.37:g.93247696G>A	ENSP00000317955:p.Ser134Leu						p.S134L	NM_003566	NP_003557	Q15075	EEA1_HUMAN			6	666	-			134			Potential.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.401C>T	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277508	0.59758	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.64260	-0.09	5.6	5.6	0.85130	.	0.000000	0.42053	D	0.000775	T	0.51517	0.1679	L	0.29908	0.895	0.44395	D	0.997303	B	0.24258	0.1	B	0.21151	0.033	T	0.44742	-0.9308	10	0.33940	T	0.23	.	16.3667	0.83331	0.0:0.0:1.0:0.0	.	134	Q15075	EEA1_HUMAN	L	134;133	ENSP00000317955:S134L	ENSP00000317955:S134L	S	-	2	0	EEA1	91771827	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.607000	0.67648	2.636000	0.89361	0.591000	0.81541	TCA		0.308	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1		NM_003566		8	28	0	0	0	0.047766	0	8	28		
UHRF1BP1L	23074	broad.mit.edu	37	12	100453074	100453074	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:100453074C>T	ENST00000279907.7	-	14	2193	c.1981G>A	c.(1981-1983)Gct>Act	p.A661T	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A311T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	661										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTTCATGAGCATGTCTCTGG	0.318																																						uc001tgq.2		NaN																	0				ovary(2)	2						c.(1981-1983)GCT>ACT		UHRF1 (ICBP90) binding protein 1-like isoform a							58.0	67.0	64.0					12																	100453074		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100453074C>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1981G>A	12.37:g.100453074C>T	ENSP00000279907:p.Ala661Thr					UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.A311T	p.A661T	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			14	2210	-			661					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.1981G>A	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376299	0.82682	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.14893	2.54;2.47	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.45577	0.1349	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.41233	-0.9520	10	0.87932	D	0	-14.679	19.5255	0.95203	0.0:1.0:0.0:0.0	.	661	A0JNW5	UH1BL_HUMAN	T	661;311	ENSP00000279907:A661T;ENSP00000444824:A311T	ENSP00000279907:A661T	A	-	1	0	UHRF1BP1L	98977205	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.625000	0.83145	2.624000	0.88883	0.650000	0.86243	GCT		0.318	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1		NM_001006947		3	56	0	0	0	0.004672	0	3	56		
BTBD11	121551	broad.mit.edu	37	12	108006588	108006588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:108006588G>A	ENST00000280758.5	+	6	2369	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H	BTBD11_ENST00000490090.2_Missense_Mutation_p.R614H|BTBD11_ENST00000357167.4_Missense_Mutation_p.R151H|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Missense_Mutation_p.R614H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	614						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCCTGCGTCCGTGGGGACGAG	0.577																																						uc001tmk.1		NaN																	0				skin(2)|ovary(1)	3						c.(1840-1842)CGT>CAT		BTB (POZ) domain containing 11 isoform a							89.0	73.0	79.0					12																	108006588		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108006588G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1841G>A	12.37:g.108006588G>A	ENSP00000280758:p.Arg614His					BTBD11_uc009zut.1_Missense_Mutation_p.R614H|BTBD11_uc001tmj.2_Missense_Mutation_p.R614H|BTBD11_uc001tml.1_Missense_Mutation_p.R151H	p.R614H	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			6	2362	+			614			ANK 1.		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1841G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961087	0.92791	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.64991	-0.09;-0.13;-0.09;-0.09	5.31	5.31	0.75309	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	N	0.16567	0.415	0.80722	D	1	D;D;D;D	0.89917	0.997;0.98;1.0;1.0	P;P;D;D	0.69307	0.809;0.595;0.963;0.956	T	0.67783	-0.5581	10	0.59425	D	0.04	.	13.6303	0.62191	0.0745:0.0:0.9255:0.0	.	614;151;614;614	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	H	614;614;614;151	ENSP00000280758:R614H;ENSP00000413889:R614H;ENSP00000447319:R614H;ENSP00000349690:R151H	ENSP00000280758:R614H	R	+	2	0	BTBD11	106530718	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.975000	0.88055	2.657000	0.90304	0.650000	0.86243	CGT		0.577	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1		NM_152322		7	41	0	0	0	0.058154	0	7	41		
NOS1	4842	broad.mit.edu	37	12	117698400	117698400	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:117698400G>C	ENST00000338101.4	-	13	2241	c.2237C>G	c.(2236-2238)tCg>tGg	p.S746W	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.S746W			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CAGCTTGGCCGAGAACTTGAC	0.522																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NaN																	0				ovary(3)|skin(3)|pancreas(1)	7						c.(2236-2238)TCG>TGG		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						71.0	69.0	69.0					12																	117698400		1936	4162	6098	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117698400G>C		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2237C>G	12.37:g.117698400G>C	ENSP00000337459:p.Ser746Trp					NOS1_uc001twn.1_5'Flank	p.S746W	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	14	2923	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		746			Calmodulin-binding (Potential).			Missense_Mutation	SNP	ENST00000338101.4	37	c.2237C>G	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659213	0.88154	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.01548	4.81;4.78	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00167	-1.1964	10	0.87932	D	0	-7.5473	18.7172	0.91679	0.0:0.0:1.0:0.0	.	746	P29475	NOS1_HUMAN	W	641;746;746;746	ENSP00000320758:S746W;ENSP00000337459:S746W	ENSP00000320758:S746W	S	-	2	0	NOS1	116182783	1.000000	0.71417	0.967000	0.41034	0.981000	0.71138	7.783000	0.85696	2.665000	0.90641	0.655000	0.94253	TCG		0.522	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1				4	31	0	0	0	0.014758	0	4	31		
CLIP1	6249	broad.mit.edu	37	12	122825899	122825899	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:122825899C>T	ENST00000540338.1	-	10	1893	c.1852G>A	c.(1852-1854)Gat>Aat	p.D618N	CLIP1_ENST00000361654.4_Missense_Mutation_p.D572N|CLIP1_ENST00000537178.1_Missense_Mutation_p.D572N|CLIP1_ENST00000545889.1_Missense_Mutation_p.D308N|CLIP1_ENST00000358808.2_Missense_Mutation_p.D607N|CLIP1_ENST00000302528.7_Missense_Mutation_p.D607N			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	618					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCTATCACATCTGAGTTCTCT	0.478																																						uc001ucg.1		NaN																	0				ovary(2)|breast(1)	3						c.(1852-1854)GAT>AAT		restin isoform a							141.0	127.0	132.0					12																	122825899		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825899C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1852G>A	12.37:g.122825899C>T	ENSP00000439093:p.Asp618Asn					CLIP1_uc001uch.1_Missense_Mutation_p.D607N|CLIP1_uc001uci.1_Missense_Mutation_p.D572N|CLIP1_uc001ucj.1_Missense_Mutation_p.D308N|CLIP1_uc009zxo.1_Missense_Mutation_p.D174N	p.D618N	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	1958	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		618			Potential.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1852G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055937	0.76074	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61980	2.71;0.65;0.65;0.62;0.67;0.06	5.37	5.37	0.77165	.	0.094159	0.64402	D	0.000001	T	0.68274	0.2983	L	0.42245	1.32	0.53688	D	0.999979	B;P;P;B	0.41710	0.061;0.76;0.64;0.054	B;P;P;B	0.51742	0.056;0.678;0.678;0.031	T	0.63180	-0.6695	10	0.31617	T	0.26	-22.8504	19.4662	0.94943	0.0:1.0:0.0:0.0	.	308;572;607;618	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	N	308;607;607;452;572;618;541	ENSP00000438743:D308N;ENSP00000303585:D607N;ENSP00000351665:D607N;ENSP00000445531:D572N;ENSP00000439093:D618N;ENSP00000437786:D541N	ENSP00000303585:D607N	D	-	1	0	CLIP1	121391852	1.000000	0.71417	0.665000	0.29768	0.996000	0.88848	5.703000	0.68340	2.666000	0.90696	0.561000	0.74099	GAT		0.478	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956		18	67	0	0	0	0.049695	0	18	67		
POLE	5426	broad.mit.edu	37	12	133257231	133257231	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:133257231C>G	ENST00000320574.5	-	3	290	c.247G>C	c.(247-249)Gat>Cat	p.D83H	POLE_ENST00000535270.1_Intron	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	83					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AAGTAGTAATCCACTGCACTG	0.428								DNA polymerases (catalytic subunits)																														uc001uks.1		NaN																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(247-249)GAT>CAT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							168.0	158.0	161.0					12																	133257231		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133257231C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.247G>C	12.37:g.133257231C>G	ENSP00000322570:p.Asp83His					POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Intron	p.D83H	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	3	291	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	83					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.247G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077041	0.94000	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000376577	T;T	0.01495	4.83;4.83	5.71	5.71	0.89125	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	M	0.81682	2.555	0.80722	D	1	P	0.52061	0.95	P	0.57425	0.82	T	0.00123	-1.2026	10	0.62326	D	0.03	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	83	Q07864	DPOE1_HUMAN	H	83;94;18	ENSP00000322570:D83H;ENSP00000406383:D94H	ENSP00000322570:D83H	D	-	1	0	POLE	131767304	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.547000	0.82146	2.709000	0.92574	0.655000	0.94253	GAT		0.428	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2		NM_006231		15	64	0	0	0	0.028581	0	15	64		
PAN3	255967	broad.mit.edu	37	13	28834599	28834599	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:28834599C>T	ENST00000380958.3	+	8	1416	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	PAN3_ENST00000282391.5_Missense_Mutation_p.H110Y|PAN3_ENST00000399613.1_Missense_Mutation_p.H222Y	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCCAAACTATCATATTTATCC	0.428																																						uc001urz.2		NaN																	0				ovary(1)	1						c.(826-828)CAT>TAT		PABP1-dependent poly A-specific ribonuclease							157.0	134.0	142.0					13																	28834599		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28834599C>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1264C>T	13.37:g.28834599C>T	ENSP00000370345:p.His422Tyr					PAN3_uc010tdo.1_Missense_Mutation_p.H422Y|PAN3_uc001ury.2_Missense_Mutation_p.H110Y|PAN3_uc001urx.2_Missense_Mutation_p.H222Y	p.H276Y	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	7	834	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	422			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.826C>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479672	0.84747	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.06933	3.24;3.24;3.24	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	M	0.79123	2.44	0.80722	D	1	B;D;P;D	0.67145	0.104;0.996;0.908;0.99	B;D;P;D	0.65684	0.135;0.937;0.888;0.909	T	0.00891	-1.1525	10	0.44086	T	0.13	-16.4352	19.5309	0.95228	0.0:1.0:0.0:0.0	.	422;422;110;368	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	Y	422;222;110	ENSP00000370345:H422Y;ENSP00000382522:H222Y;ENSP00000282391:H110Y	ENSP00000282391:H110Y	H	+	1	0	PAN3	27732599	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.610000	0.82949	2.605000	0.88082	0.585000	0.79938	CAT		0.428	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4		NM_175854		24	56	0	0	0	0.030593	0	24	56		
FRY	10129	broad.mit.edu	37	13	32745308	32745308	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:32745308G>A	ENST00000380250.3	+	18	2548	c.2052G>A	c.(2050-2052)tcG>tcA	p.S684S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	684						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCTTGATTCGTCCCTGAAGT	0.443																																						uc001utx.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(2050-2052)TCG>TCA		furry homolog							103.0	98.0	99.0					13																	32745308		1979	4189	6168	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32745308G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2052G>A	13.37:g.32745308G>A						FRY_uc010tdw.1_RNA	p.S684S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	18	2548	+		Lung SC(185;0.0271)	684					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.2052G>A	CCDS41875.1																																																																																				0.443	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037		30	51	0	0	0	0.080422	0	30	51		
ATP11A	23250	broad.mit.edu	37	13	113532571	113532571	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:113532571T>A	ENST00000487903.1	+	29	3456	c.3368T>A	c.(3367-3369)tTt>tAt	p.F1123Y	ATP11A_ENST00000375645.3_Missense_Mutation_p.F1123Y|ATP11A_ENST00000375630.2_Intron|ATP11A_ENST00000283558.8_Missense_Mutation_p.F1123Y			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1123					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCAACCATCTTTATGCTTTCT	0.547																																						uc001vsi.3		NaN																	0				large_intestine(2)|ovary(2)	4						c.(3367-3369)TTT>TAT		ATPase, class VI, type 11A isoform a							256.0	197.0	217.0					13																	113532571		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113532571T>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3368T>A	13.37:g.113532571T>A	ENSP00000420387:p.Phe1123Tyr					ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA	p.F1123Y	NM_015205	NP_056020	P98196	AT11A_HUMAN			29	3456	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	1123			Cytoplasmic (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.3368T>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894026	0.72639	.	.	ENSG00000068650	ENST00000487903;ENST00000375645;ENST00000283558	T;T;T	0.40756	1.02;1.02;1.02	4.52	4.52	0.55395	.	.	.	.	.	T	0.38108	0.1028	L	0.60455	1.87	0.44104	D	0.996875	D	0.56521	0.976	P	0.44597	0.454	T	0.38112	-0.9676	9	0.06099	T	0.92	.	13.8486	0.63483	0.0:0.0:0.0:1.0	.	1123	P98196	AT11A_HUMAN	Y	1123	ENSP00000420387:F1123Y;ENSP00000364796:F1123Y;ENSP00000283558:F1123Y	ENSP00000283558:F1123Y	F	+	2	0	ATP11A	112580572	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.314000	0.78988	1.658000	0.50742	0.379000	0.24179	TTT		0.547	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3		NM_015205		4	80	0	0	0	0.014758	0	4	80		
ADPRHL1	113622	broad.mit.edu	37	13	114077230	114077230	+	Silent	SNP	G	G	A	rs372483819		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:114077230G>A	ENST00000375418.3	-	7	1058	c.972C>T	c.(970-972)ctC>ctT	p.L324L	ADPRHL1_ENST00000356501.4_Silent_p.L242L	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	324					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CTTTGGGAACGAGGTCCAGGC	0.617													g|||	1	0.000199681	0.0	0.0	5008	,	,		16223	0.0		0.0	False		,,,				2504	0.001					uc001vtq.1		NaN																	0					0						c.(970-972)CTC>CTT		ADP-ribosylhydrolase like 1 isoform 1							100.0	91.0	94.0					13																	114077230		2203	4297	6500	SO:0001819	synonymous_variant	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114077230G>A	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.972C>T	13.37:g.114077230G>A						ADPRHL1_uc001vtp.1_Silent_p.L242L	p.L324L	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		7	1059	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	324					Q5JUG2|Q96GD1	Silent	SNP	ENST00000375418.3	37	c.972C>T	CCDS9535.1																																																																																				0.617	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2		NM_138430		27	83	0	0	0	0.045705	0	27	83		
IPO4	79711	broad.mit.edu	37	14	24648055	24648055	+	IGR	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:24648055G>A	ENST00000354464.6	-	0	3646				REC8_ENST00000311457.3_Missense_Mutation_p.R378Q|REC8_ENST00000559919.1_Missense_Mutation_p.R378Q	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCCCTCAGGCGAGAGCTGCCT	0.582																																						uc001wmr.2		NaN																	0					0						c.(1135-1137)CGA>CAA		REC8 homolog							127.0	144.0	138.0					14																	24648055		1916	4115	6031	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24648055G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24648055G>A						REC8_uc001wms.2_Missense_Mutation_p.R379Q	p.R379Q	NM_005132	NP_005123	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	16	1563	+			379			Glu-rich.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.1136G>A	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414221	0.42817	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.23950	1.88	5.18	-4.18	0.03846	.	1.504060	0.03928	N	0.284701	T	0.13457	0.0326	N	0.17082	0.46	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.10450	0.005;0.002	T	0.20940	-1.0260	10	0.23891	T	0.37	4.2312	5.0569	0.14537	0.5331:0.0:0.2718:0.1951	.	362;379	O95072-2;O95072	.;REC8_HUMAN	Q	378;361	ENSP00000308699:R378Q	ENSP00000308699:R378Q	R	+	2	0	REC8	23717895	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.200000	0.09478	-0.647000	0.05444	-2.473000	0.00201	CGA		0.582	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4		NM_024658		14	186	0	0	0	0.105934	0	14	186		
CDKL1	8814	broad.mit.edu	37	14	50845041	50845041	+	5'UTR	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:50845041G>A	ENST00000356146.1	-	0	1207				CDKL1_ENST00000216378.2_Intron|CDKL1_ENST00000395834.1_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)						heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					agggcaataaggttcttgctc	0.522																																						uc010anu.1		NaN																	0				ovary(1)|stomach(1)	2						c.(1207-1209)CCT>CTT		cyclin-dependent kinase-like 1							58.0	53.0	55.0					14																	50845041		876	1991	2867	SO:0001623	5_prime_UTR_variant	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50845041G>A	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000356146.1:c.-1775C>T	14.37:g.50845041G>A						CDKL1_uc001wxz.2_Intron	p.P403L	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			9	1208	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		Error:Variant_position_missing_in_Q00532_after_alignment					Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000356146.1	37	c.1208C>T																																																																																					0.522	CDKL1-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000276873.2				13	23	0	0	0	0.020292	0	13	23		
ARID4A	5926	broad.mit.edu	37	14	58831244	58831244	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:58831244G>T	ENST00000355431.3	+	20	2810	c.2437G>T	c.(2437-2439)Ggc>Tgc	p.G813C	ARID4A_ENST00000395168.3_Missense_Mutation_p.G813C|ARID4A_ENST00000431317.2_Missense_Mutation_p.G813C|ARID4A_ENST00000348476.3_Missense_Mutation_p.G813C	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	813					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTCATCATTTGGCCAGAATGA	0.333																																						uc001xdp.2		NaN																	0				ovary(3)|skin(2)|lung(1)	6						c.(2437-2439)GGC>TGC		retinoblastoma-binding protein 1 isoform I							37.0	42.0	40.0					14																	58831244		2200	4295	6495	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831244G>T	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2437G>T	14.37:g.58831244G>T	ENSP00000347602:p.Gly813Cys					ARID4A_uc001xdo.2_Missense_Mutation_p.G813C|ARID4A_uc001xdq.2_Missense_Mutation_p.G813C|ARID4A_uc010apg.1_Missense_Mutation_p.G491C	p.G813C	NM_002892	NP_002883	P29374	ARI4A_HUMAN			20	2691	+			813					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.2437G>T	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513230	0.27123	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.14640	2.5;2.51;2.51;2.51;2.49	5.68	0.661	0.17874	.	0.838991	0.11396	N	0.568342	T	0.12178	0.0296	N	0.24115	0.695	0.09310	N	1	D;P;P	0.53885	0.963;0.621;0.739	P;B;B	0.46479	0.518;0.126;0.249	T	0.24584	-1.0156	10	0.72032	D	0.01	0.5228	10.3962	0.44203	0.6566:0.0:0.3434:0.0	.	813;813;813	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	C	813;813;813;813;491	ENSP00000347602:G813C;ENSP00000344556:G813C;ENSP00000378597:G813C;ENSP00000397368:G813C;ENSP00000416053:G491C	ENSP00000344556:G813C	G	+	1	0	ARID4A	57900997	0.217000	0.23597	0.645000	0.29479	0.965000	0.64279	0.967000	0.29344	0.085000	0.17107	-0.312000	0.09012	GGC		0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2		NM_023001		8	22	1	0	2.74318e-10	0.058154	3.07636e-10	8	22		
SLC25A47	283600	broad.mit.edu	37	14	100795895	100795895	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:100795895C>G	ENST00000361529.3	+	6	918	c.840C>G	c.(838-840)ctC>ctG	p.L280L	SLC25A47_ENST00000557052.1_Silent_p.L134L	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	280					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGCTGGTACTCAATTGCTGCC	0.647																																					GBM(11;1289 1351)	uc001yhc.2		NaN																	0					0						c.(838-840)CTC>CTG		chromosome 14 open reading frame 68							77.0	85.0	82.0					14																	100795895		2203	4300	6503	SO:0001819	synonymous_variant	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100795895C>G		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.840C>G	14.37:g.100795895C>G						C14orf68_uc001yhd.2_Silent_p.L134L	p.L280L	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			6	913	+		Melanoma(154;0.152)	280			Helical; Name=6; (Potential).|Solcar 3.		B2RP39|Q68CL2|Q6PZD8|Q86U14	Silent	SNP	ENST00000361529.3	37	c.840C>G	CCDS9959.1																																																																																				0.647	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1				27	83	0	0	0	0.045705	0	27	83		
CEP152	22995	broad.mit.edu	37	15	49074365	49074365	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:49074365T>C	ENST00000380950.2	-	11	1571	c.1384A>G	c.(1384-1386)Atg>Gtg	p.M462V	CEP152_ENST00000399334.3_Missense_Mutation_p.M462V|RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Missense_Mutation_p.M369V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	462					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTGCACTCATAGCATGTGCC	0.443																																						uc001zwy.2		NaN																	0				lung(2)	2						c.(1384-1386)ATG>GTG		centrosomal protein 152kDa							95.0	93.0	94.0					15																	49074365		1998	4190	6188	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49074365T>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1384A>G	15.37:g.49074365T>C	ENSP00000370337:p.Met462Val					CEP152_uc001zwz.2_Missense_Mutation_p.M462V|CEP152_uc001zxa.1_Missense_Mutation_p.M369V	p.M462V	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	11	1418	-		all_lung(180;0.0428)	462			Potential.		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.1384A>G	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.286754	0.23478	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.76186	-1.0;-1.0;-1.0	5.82	-11.6	0.00059	.	0.736774	0.12909	N	0.429160	T	0.54515	0.1863	L	0.44542	1.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.15549	-1.0433	10	0.21540	T	0.41	1.0696	10.2822	0.43545	0.0685:0.1083:0.5741:0.2491	.	369;462;462	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	V	462;369;462;462	ENSP00000370337:M462V;ENSP00000321000:M369V;ENSP00000382271:M462V	ENSP00000321000:M369V	M	-	1	0	CEP152	46861657	0.001000	0.12720	0.000000	0.03702	0.894000	0.52154	-0.268000	0.08607	-2.603000	0.00450	0.533000	0.62120	ATG		0.443	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1		NM_014985		10	61	0	0	0	0.020292	0	10	61		
SECISBP2L	9728	broad.mit.edu	37	15	49285034	49285034	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:49285034C>T	ENST00000559471.1	-	18	2976	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E860K	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	905							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGGGTTTTTCAGAAGTGCTG	0.433																																						uc001zxe.1		NaN																	0				breast(1)|skin(1)	2						c.(2713-2715)GAA>AAA		SECIS binding protein 2-like							177.0	167.0	170.0					15																	49285034		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49285034C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2713G>A	15.37:g.49285034C>T	ENSP00000453854:p.Glu905Lys					SECISBP2L_uc001zxd.1_Missense_Mutation_p.E860K	p.E905K	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			18	2847	-			905					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2713G>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173473	0.57584	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.73897	-0.79	5.09	5.09	0.68999	.	0.355152	0.29028	N	0.013367	T	0.60830	0.2299	N	0.14661	0.345	0.42261	D	0.992019	B;B	0.31680	0.335;0.328	B;B	0.28011	0.039;0.085	T	0.62895	-0.6757	10	0.46703	T	0.11	.	18.683	0.91553	0.0:1.0:0.0:0.0	.	905;860	Q93073;Q93073-2	SBP2L_HUMAN;.	K	860;905	ENSP00000261847:E860K	ENSP00000261847:E860K	E	-	1	0	SECISBP2L	47072326	0.998000	0.40836	0.998000	0.56505	0.950000	0.60333	3.134000	0.50538	2.646000	0.89796	0.655000	0.94253	GAA		0.433	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1		NM_014701		27	95	0	0	0	0.034045	0	27	95		
MYO1E	4643	broad.mit.edu	37	15	59500904	59500904	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:59500904G>A	ENST00000288235.4	-	14	1905	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	502	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GATGAATGATGAAGCCTTGGT	0.453																																						uc002aga.2		NaN																	0				central_nervous_system(3)	3						c.(1504-1506)TTC>TTT		myosin IE							209.0	184.0	193.0					15																	59500904		2191	4290	6481	SO:0001819	synonymous_variant	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59500904G>A	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1506C>T	15.37:g.59500904G>A							p.F502F	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	14	1878	-			502			Myosin head-like.		Q14778	Silent	SNP	ENST00000288235.4	37	c.1506C>T	CCDS32254.1																																																																																				0.453	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1		NM_004998		8	150	0	0	0	0.069234	0	8	150		
TICRR	90381	broad.mit.edu	37	15	90119305	90119305	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:90119305C>T	ENST00000268138.7	+	1	593	c.488C>T	c.(487-489)tCg>tTg	p.S163L	TICRR_ENST00000560985.1_Missense_Mutation_p.S163L|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	163					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TGTCCGCACTCGCAGAGGGAG	0.682																																						uc002boe.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(487-489)TCG>TTG		leucine-rich repeat kinase 1							16.0	20.0	19.0					15																	90119305		1992	4153	6145	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90119305C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.488C>T	15.37:g.90119305C>T	ENSP00000268138:p.Ser163Leu						p.S163L	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		1	488	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		163					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.488C>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	34	5.409802	0.96072	.	.	ENSG00000140534	ENST00000268138	T	0.24723	1.84	4.65	4.65	0.58169	.	0.073332	0.56097	D	0.000025	T	0.49915	0.1585	M	0.63843	1.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.53697	-0.8402	10	0.87932	D	0	-5.6558	17.6984	0.88288	0.0:1.0:0.0:0.0	.	163	Q7Z2Z1	TICRR_HUMAN	L	163	ENSP00000268138:S163L	ENSP00000268138:S163L	S	+	2	0	C15orf42	87920309	1.000000	0.71417	0.878000	0.34440	0.995000	0.86356	6.446000	0.73460	2.396000	0.81511	0.591000	0.81541	TCG		0.682	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1		NM_152259		3	23	0	0	0	0.009096	0	3	23		
SYNM	23336	broad.mit.edu	37	15	99670051	99670051	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:99670051C>G	ENST00000560674.1	+	4	1097	c.628C>G	c.(628-630)Ctg>Gtg	p.L210V	SYNM_ENST00000328642.7_Missense_Mutation_p.L495V|SYNM_ENST00000336292.6_Missense_Mutation_p.L495V|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	496	Coil 2.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GACCGTCATTCTGGGAAAGAA	0.493																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1486-1488)CTG>GTG		desmuslin isoform A							37.0	38.0	37.0					15																	99670051		1939	4144	6083	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99670051C>G	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.628C>G	15.37:g.99670051C>G	ENSP00000453040:p.Leu210Val					SYNM_uc002buo.2_Missense_Mutation_p.L496V|SYNM_uc002buq.2_Intron	p.L496V	NM_145728	NP_663780	O15061	SYNEM_HUMAN			6	1606	+			496			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.1486C>G		.	.	.	.	.	.	.	.	.	.	C	0.041	-1.285391	0.01387	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.20463	2.07;2.07	5.5	-6.36	0.01969	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.09310	N	1	B;B	0.14438	0.01;0.001	B;B	0.10450	0.005;0.003	T	0.32025	-0.9922	8	0.36615	T	0.2	.	3.6757	0.08291	0.0855:0.2541:0.3595:0.3009	.	496;495	O15061;C9JIE4	SYNEM_HUMAN;.	V	495	ENSP00000336775:L495V;ENSP00000330469:L495V	ENSP00000330469:L495V	L	+	1	2	SYNM	97487574	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.070000	0.01380	-1.066000	0.03164	-2.192000	0.00311	CTG		0.493	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2		NM_145728		3	21	0	0	0	0.004672	0	3	21		
PRR35	146325	broad.mit.edu	37	16	613542	613542	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:613542C>T	ENST00000409413.3	+	2	527	c.248C>T	c.(247-249)cCt>cTt	p.P83L		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		83	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						TCCACCACGCCTAGGCCCCAC	0.692																																						uc002chk.2		NaN																	0				central_nervous_system(1)	1						c.(247-249)CCT>CTT		hypothetical protein LOC146325							55.0	55.0	55.0					16																	613542		2000	4144	6144	SO:0001583	missense	146325							g.chr16:613542C>T																												ENST00000409413.3:c.248C>T	16.37:g.613542C>T	ENSP00000386499:p.Pro83Leu						p.P83L	NM_145270	NP_660313	P0CG20	CP011_HUMAN			2	527	+			83			Pro-rich.		B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.248C>T	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510237	0.27036	.	.	ENSG00000161992	ENST00000409413	.	.	.	5.06	2.91	0.33838	.	0.415825	0.19780	N	0.106223	T	0.30823	0.0777	L	0.38531	1.155	0.09310	N	0.999999	B	0.22909	0.077	B	0.21917	0.037	T	0.25813	-1.0121	9	0.87932	D	0	.	8.1717	0.31258	0.0:0.7557:0.157:0.0873	.	83	P0CG20	CP011_HUMAN	L	83	.	ENSP00000386499:P83L	P	+	2	0	C16orf11	553543	0.013000	0.17824	0.085000	0.20634	0.007000	0.05969	2.211000	0.42825	2.359000	0.80004	0.557000	0.71058	CCT		0.692	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1				4	23	0	0	0	0.014758	0	4	23		
TELO2	9894	broad.mit.edu	37	16	1552951	1552951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:1552951C>T	ENST00000262319.6	+	15	2069	c.1790C>T	c.(1789-1791)tCa>tTa	p.S597L	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	597					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TATCTGACCTCACAGTTCTAT	0.657																																						uc002cly.2		NaN																	0					0						c.(1789-1791)TCA>TTA		TEL2, telomere maintenance 2, homolog							153.0	144.0	147.0					16																	1552951		2199	4300	6499	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1552951C>T	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1790C>T	16.37:g.1552951C>T	ENSP00000262319:p.Ser597Leu						p.S597L	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN			15	2081	+		Hepatocellular(780;0.219)	597					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.1790C>T	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361476	0.24684	.	.	ENSG00000100726	ENST00000262319	T	0.15487	2.42	5.09	4.14	0.48551	Telomere length regulation protein, conserved domain (1);	0.590726	0.17821	N	0.160860	T	0.18635	0.0447	M	0.68593	2.085	0.09310	N	0.99999	P	0.45044	0.849	B	0.39971	0.315	T	0.12344	-1.0551	10	0.39692	T	0.17	-0.4354	8.4182	0.32683	0.0:0.7604:0.155:0.0845	.	597	Q9Y4R8	TELO2_HUMAN	L	597	ENSP00000262319:S597L	ENSP00000262319:S597L	S	+	2	0	TELO2	1492952	0.035000	0.19736	0.053000	0.19242	0.161000	0.22273	2.895000	0.48648	1.164000	0.42652	0.462000	0.41574	TCA		0.657	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2		NM_016111		12	137	0	0	0	0.028581	0	12	137		
TSC2	7249	broad.mit.edu	37	16	2094652	2094652	+	5'Flank	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:2094652G>C	ENST00000219476.3	+	0	0				NTHL1_ENST00000219066.1_Missense_Mutation_p.I176M|NTHL1_ENST00000562951.1_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						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)				CGACGGGGTAGATGAGCTTGC	0.682			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002col.1		NaN	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249		tuberous sclerosis 2 gene			"""E, O"""					0				lung(1)	1						c.(526-528)ATC>ATG	BER_DNA_glycosylases	nth endonuclease III-like 1							59.0	50.0	53.0					16																	2094652		2198	4300	6498	SO:0001631	upstream_gene_variant	4913		Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding	g.chr16:2094652G>C	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		16.37:g.2094652G>C	Exception_encountered					NTHL1_uc002com.1_Missense_Mutation_p.I177M	p.I176M	NM_002528	NP_002519	P78549	NTHL1_HUMAN			3	547	-			176					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.528C>G	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763171	0.49574	.	.	ENSG00000065057	ENST00000219066	D	0.94897	-3.55	5.44	4.49	0.54785	HhH-GPD domain (2);DNA glycosylase (2);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	H	0.99783	4.775	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97667	1.0164	10	0.87932	D	0	-22.8258	9.7826	0.40658	0.1748:0.0:0.8252:0.0	.	176;176	E5KTI5;P78549	.;NTHL1_HUMAN	M	176	ENSP00000219066:I176M	ENSP00000219066:I176M	I	-	3	3	NTHL1	2034653	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.217000	0.42880	1.312000	0.45043	0.561000	0.74099	ATC		0.682	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2		NM_000548		5	70	0	0	0	0.02938	0	5	70		
MEFV	4210	broad.mit.edu	37	16	3293384	3293384	+	Silent	SNP	C	C	T	rs104895095		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:3293384C>T	ENST00000219596.1	-	10	2142	c.2103G>A	c.(2101-2103)gcG>gcA	p.A701A	MEFV_ENST00000536379.1_Silent_p.A490A|MEFV_ENST00000339854.4_Silent_p.A521A|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	701	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.A701A(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GAACGCTGGACGCCTGGTACT	0.517																																						uc002cun.1		NaN																	1	Substitution - coding silent(1)		endometrium(1)	central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(2101-2103)GCG>GCA		Mediterranean fever protein	Colchicine(DB01394)						119.0	111.0	113.0					16																	3293384		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293384C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.2103G>A	16.37:g.3293384C>T							p.A701A	NM_000243	NP_000234	O15553	MEFV_HUMAN			10	2143	-			701			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.2103G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1		NM_000243		14	69	0	0	0	0.024245	0	14	69		
ZNF75A	7627	broad.mit.edu	37	16	3367786	3367786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:3367786G>C	ENST00000574298.1	+	6	1281	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						CCACACAGGTGAGCAGCCATA	0.453																																						uc002cut.3		NaN																	0				breast(1)	1						c.(808-810)GAG>CAG		zinc finger protein 75a							62.0	65.0	64.0					16																	3367786		2197	4300	6497	SO:0001583	missense	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3367786G>C	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.808G>C	16.37:g.3367786G>C	ENSP00000459566:p.Glu270Gln					ZNF75A_uc002cuv.3_RNA	p.E270Q	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN			6	1334	+			270					Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	c.808G>C	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086098	0.76642	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.46	4.46	0.54185	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.151475	0.30989	N	0.008479	T	0.78654	0.4317	M	0.77406	2.37	0.40050	D	0.975766	D	0.76494	0.999	D	0.77557	0.99	T	0.82452	-0.0450	9	0.87932	D	0	.	14.9674	0.71204	0.0:0.0:1.0:0.0	.	270	Q96N20	ZN75A_HUMAN	Q	270	.	ENSP00000293995:E270Q	E	+	1	0	ZNF75A	3307787	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.504000	0.60414	2.459000	0.83118	0.557000	0.71058	GAG		0.453	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2		NM_153028		17	70	0	0	0	0.049695	0	17	70		
ABCC6	368	broad.mit.edu	37	16	16276399	16276399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:16276399G>A	ENST00000205557.7	-	17	2146	c.2117C>T	c.(2116-2118)tCt>tTt	p.S706F	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	706	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CTCTACCACAGAGGTGTTCTG	0.577																																						uc002den.3		NaN																	0				skin(2)|ovary(1)	3						c.(2116-2118)TCT>TTT		ATP-binding cassette, sub-family C, member 6							76.0	66.0	69.0					16																	16276399		2197	4300	6497	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16276399G>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.2117C>T	16.37:g.16276399G>A	ENSP00000205557:p.Ser706Phe					ABCC6_uc010bvo.2_RNA	p.S706F	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	17	2154	-			706			ABC transporter 1.|Cytoplasmic (By similarity).		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.2117C>T	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006375	0.54361	.	.	ENSG00000091262	ENST00000205557;ENST00000456970	D;D	0.92348	-3.02;-3.02	4.86	4.86	0.63082	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.46758	U	0.000262	D	0.96056	0.8715	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96729	0.9538	10	0.87932	D	0	.	16.7845	0.85571	0.0:0.0:1.0:0.0	.	706	O95255	MRP6_HUMAN	F	706	ENSP00000205557:S706F;ENSP00000405002:S706F	ENSP00000205557:S706F	S	-	2	0	ABCC6	16183900	1.000000	0.71417	0.029000	0.17559	0.046000	0.14306	7.481000	0.81124	2.239000	0.73571	0.561000	0.74099	TCT		0.577	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2				10	51	0	0	0	0.080935	0	10	51		
ATP2A1	487	broad.mit.edu	37	16	28913966	28913966	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:28913966C>G	ENST00000357084.3	+	18	2857	c.2590C>G	c.(2590-2592)Cat>Gat	p.H864D	ATP2A1_ENST00000395503.4_Missense_Mutation_p.H864D|ATP2A1_ENST00000536376.1_Missense_Mutation_p.H739D	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	864					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGATGGGCCTCATGTCAACTA	0.652																																						uc002dro.1		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2590-2592)CAT>GAT		ATPase, Ca++ transporting, fast twitch 1 isoform							67.0	64.0	65.0					16																	28913966		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28913966C>G		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2590C>G	16.37:g.28913966C>G	ENSP00000349595:p.His864Asp					uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.H864D|ATP2A1_uc002drp.1_Missense_Mutation_p.H739D	p.H864D	NM_173201	NP_775293	O14983	AT2A1_HUMAN			18	2774	+			864			Lumenal (By similarity).		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2590C>G	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	7.145	0.582524	0.13749	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.95482	-3.72;-3.72;-2.38	4.5	3.54	0.40534	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	1.333390	0.04680	N	0.412249	D	0.91922	0.7442	L	0.33485	1.01	0.09310	N	1	B;B;B	0.16166	0.002;0.009;0.016	B;B;B	0.25759	0.021;0.063;0.038	T	0.81002	-0.1130	10	0.21540	T	0.41	.	6.7585	0.23528	0.0:0.5556:0.35:0.0943	.	739;864;864	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	D	864;864;739	ENSP00000349595:H864D;ENSP00000378879:H864D;ENSP00000443101:H739D	ENSP00000349595:H864D	H	+	1	0	ATP2A1	28821467	0.000000	0.05858	0.197000	0.23402	0.513000	0.34164	0.069000	0.14552	1.091000	0.41335	0.462000	0.41574	CAT		0.652	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2		NM_004320		14	54	0	0	0	0.038395	0	14	54		
MAPK3	5595	broad.mit.edu	37	16	30129483	30129483	+	Splice_Site	SNP	A	A	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:30129483A>T	ENST00000263025.4	-	4	629	c.545T>A	c.(544-546)aTt>aAt	p.I182N	MAPK3_ENST00000322266.5_Splice_Site_p.I182N|MAPK3_ENST00000484663.1_Splice_Site_p.I68N|MAPK3_ENST00000395200.1_Intron|MAPK3_ENST00000395202.1_Splice_Site_p.I182N|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000403394.1_Splice_Site_p.I182N|MAPK3_ENST00000395199.3_Splice_Site_p.I182N	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	GAAATCACAAATCTGGAATCA	0.592																																						uc002dws.2		NaN																	0					0						c.(544-546)ATT>AAT		mitogen-activated protein kinase 3 isoform 1	Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)						45.0	45.0	45.0					16																	30129483		2197	4300	6497	SO:0001630	splice_region_variant	5595				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	g.chr16:30129483A>T	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.544-1T>A	16.37:g.30129483A>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.I68N|MAPK3_uc002dwv.3_Missense_Mutation_p.I182N|MAPK3_uc002dwt.2_Missense_Mutation_p.I182N|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	p.I182N	NM_002746	NP_002737	P27361	MK03_HUMAN			4	645	-			182			Protein kinase.		A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	ENST00000263025.4	37	c.545T>A	CCDS10672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.58|18.58	3.654469|3.654469	0.67472|0.67472	.|.	.|.	ENSG00000102882|ENSG00000102882	ENST00000495629;ENST00000481230|ENST00000263025;ENST00000484663;ENST00000322266;ENST00000403394;ENST00000395202;ENST00000395199	.|T;T;T;T;T;T	.|0.56941	.|0.43;0.43;0.43;0.43;0.43;0.43	5.56|5.56	5.56|5.56	0.83823|0.83823	.|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	D|D	0.82490|0.82490	0.5048|0.5048	H|H	0.98407|0.98407	4.225|4.225	0.80722|0.80722	D|D	1|1	.|B;D;D	.|0.71674	.|0.294;0.998;0.996	.|B;D;D	.|0.69307	.|0.227;0.962;0.963	D|D	0.89325|0.89325	0.3643|0.3643	5|10	.|0.87932	.|D	.|0	-9.3127|-9.3127	14.6892|14.6892	0.69072|0.69072	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|182;182;182	.|P27361-2;P27361-3;P27361	.|.;.;MK03_HUMAN	I|N	143;136|182;68;182;182;182;182	.|ENSP00000263025:I182N;ENSP00000432742:I68N;ENSP00000327293:I182N;ENSP00000384895:I182N;ENSP00000378628:I182N;ENSP00000378625:I182N	.|ENSP00000263025:I182N	F|I	-|-	1|2	0|0	MAPK3|MAPK3	30036984|30036984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.155000|0.155000	0.21991|0.21991	9.281000|9.281000	0.95811|0.95811	2.116000|2.116000	0.64780|0.64780	0.379000|0.379000	0.24179|0.24179	TTT|ATT		0.592	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2			Missense_Mutation	5	38	0	0	0	0.038147	0	5	38		
ITGAM	3684	broad.mit.edu	37	16	31341460	31341460	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:31341460C>A	ENST00000287497.8	+	26	3110	c.3035C>A	c.(3034-3036)gCt>gAt	p.A1012D	ITGAM_ENST00000544665.3_Missense_Mutation_p.A1013D			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1012					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GACTTTCTGGCTGAGCTTCGG	0.597																																						uc002ebq.2		NaN																	0				kidney(1)	1						c.(3034-3036)GCT>GAT		integrin alpha M isoform 2 precursor							34.0	37.0	36.0					16																	31341460		2030	4154	6184	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31341460C>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.3035C>A	16.37:g.31341460C>A	ENSP00000287497:p.Ala1012Asp					ITGAM_uc002ebr.2_Missense_Mutation_p.A1013D|ITGAM_uc010can.2_Missense_Mutation_p.A418D	p.A1012D	NM_000632	NP_000623	P11215	ITAM_HUMAN			26	3133	+			1012			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.3035C>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	8.520	0.868594	0.17322	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.48836	0.8;0.8	5.08	-1.35	0.09114	.	.	.	.	.	T	0.20941	0.0504	N	0.11756	0.17	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.18366	-1.0339	9	0.18710	T	0.47	.	1.5565	0.02586	0.3513:0.362:0.1271:0.1595	.	1012;1012	Q4VAK1;P11215	.;ITAM_HUMAN	D	1013;1012	ENSP00000441691:A1013D;ENSP00000287497:A1012D	ENSP00000287497:A1012D	A	+	2	0	ITGAM	31248961	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.633000	0.05483	-0.037000	0.13646	0.545000	0.68477	GCT		0.597	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1		NM_000632		6	22	1	0	8.12818e-05	0.02938	8.59354e-05	6	22		
NOL3	8996	broad.mit.edu	37	16	67208978	67208978	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:67208978G>A	ENST00000568146.1	+	4	691	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	NOL3_ENST00000432069.2_3'UTR|KIAA0895L_ENST00000563831.2_5'Flank|NOL3_ENST00000268605.7_3'UTR|NOL3_ENST00000564053.1_3'UTR			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	213					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCTGACAGGCGGTGCCCCGCC	0.612																																						uc010vjd.1		NaN																	0					0						c.(823-825)CGG>CAG		RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;							103.0	107.0	106.0					16																	67208978		2023	4184	6207	SO:0001583	missense	8996				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding	g.chr16:67208978G>A	AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936		ENST00000568146.1:c.638G>A	16.37:g.67208978G>A	ENSP00000454598:p.Arg213Gln					NOL3_uc010vjc.1_3'UTR|NOL3_uc002erp.2_3'UTR	p.R275Q			O60936	NOL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	4	831	+		Ovarian(137;0.192)	213					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000568146.1	37	c.824G>A	CCDS58473.1																																																																																				0.612	NOL3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422746.1				31	162	0	0	0	0.069456	0	31	162		
NFATC3	4775	broad.mit.edu	37	16	68224692	68224692	+	Missense_Mutation	SNP	G	G	A	rs576793297		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:68224692G>A	ENST00000346183.3	+	9	2144	c.2120G>A	c.(2119-2121)aGa>aAa	p.R707K	NFATC3_ENST00000329524.4_Missense_Mutation_p.R707K|NFATC3_ENST00000349223.5_Missense_Mutation_p.R707K|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.R707K|SNORA48_ENST00000391143.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	707					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CAAGAACACAGAGAAGAGATT	0.388																																						uc002evo.1		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(2119-2121)AGA>AAA		nuclear factor of activated T-cells,							97.0	93.0	95.0					16																	68224692		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68224692G>A	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2120G>A	16.37:g.68224692G>A	ENSP00000300659:p.Arg707Lys					NFATC3_uc010vkl.1_Missense_Mutation_p.R228K|NFATC3_uc010vkm.1_Missense_Mutation_p.R228K|NFATC3_uc010vkn.1_Missense_Mutation_p.R228K|NFATC3_uc010vko.1_Missense_Mutation_p.R228K|NFATC3_uc010vkp.1_Missense_Mutation_p.R228K|NFATC3_uc010vkq.1_Missense_Mutation_p.R228K|NFATC3_uc002evl.2_Missense_Mutation_p.R228K|NFATC3_uc002evk.2_Missense_Mutation_p.R707K|NFATC3_uc002evm.1_Missense_Mutation_p.R707K|NFATC3_uc002evn.1_Missense_Mutation_p.R707K|NFATC3_uc010vkr.1_Missense_Mutation_p.R228K|NFATC3_uc010vks.1_Missense_Mutation_p.R228K|NFATC3_uc010vkt.1_Missense_Mutation_p.R228K|NFATC3_uc010vku.1_Missense_Mutation_p.R228K|NFATC3_uc010vkv.1_Missense_Mutation_p.R228K|NFATC3_uc010vkw.1_Missense_Mutation_p.R228K|NFATC3_uc010vkx.1_Missense_Mutation_p.R228K|NFATC3_uc010vky.1_Missense_Mutation_p.R228K|NFATC3_uc010vkz.1_Missense_Mutation_p.R228K|NFATC3_uc010vla.1_Missense_Mutation_p.R228K|NFATC3_uc010vlb.1_Missense_Mutation_p.R228K|NFATC3_uc010vlc.1_Missense_Mutation_p.R228K	p.R707K	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	9	2330	+		Ovarian(137;0.0563)	707					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.2120G>A	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763455	0.31228	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.09163	3.01;3.01;3.01	5.37	4.41	0.53225	.	0.147803	0.64402	N	0.000009	T	0.11623	0.0283	M	0.67953	2.075	0.38660	D	0.952048	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.12156	0.002;0.007;0.002;0.002	T	0.08994	-1.0695	10	0.12430	T	0.62	-1.793	8.9646	0.35867	0.0745:0.0:0.7783:0.1472	.	707;707;707;707	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	K	707;707;707;228	ENSP00000264008:R707K;ENSP00000300659:R707K;ENSP00000331324:R707K	ENSP00000331324:R707K	R	+	2	0	NFATC3	66782193	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.984000	0.70548	1.271000	0.44313	0.557000	0.71058	AGA		0.388	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2		NM_004555		6	120	0	0	0	0.02938	0	6	120		
AARS	16	broad.mit.edu	37	16	70299548	70299548	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:70299548G>A	ENST00000261772.8	-	10	1383	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F	AARS_ENST00000564359.1_5'Flank|RN7SL407P_ENST00000583724.1_RNA	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		GTGTCATAGAGGAGCCAAGCA	0.507																																						uc002eyn.1		NaN																	0		p.L414L(1)		pancreas(1)	1						c.(1240-1242)CTC>TTC		alanyl-tRNA synthetase	L-Alanine(DB00160)						91.0	88.0	89.0					16																	70299548		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70299548G>A	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1240C>T	16.37:g.70299548G>A	ENSP00000261772:p.Leu414Phe					AARS_uc010vlu.1_Missense_Mutation_p.L244F	p.L414F	NM_001605	NP_001596	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	10	1350	-		Ovarian(137;0.0365)	414						Missense_Mutation	SNP	ENST00000261772.8	37	c.1240C>T	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148005	0.78001	.	.	ENSG00000090861	ENST00000261772	T	0.73258	-0.73	5.85	4.9	0.64082	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.193356	0.46442	N	0.000300	D	0.88336	0.6409	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	D	0.91319	0.5080	10	0.87932	D	0	-16.9231	12.7379	0.57236	0.0794:0.0:0.9205:0.0	.	422;414	E7ETK8;P49588	.;SYAC_HUMAN	F	414	ENSP00000261772:L414F	ENSP00000261772:L414F	L	-	1	0	AARS	68857049	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	6.643000	0.74334	1.483000	0.48342	-0.148000	0.13756	CTC		0.507	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2		NM_001605		11	21	0	0	0	0.105934	0	11	21		
SF3B3	23450	broad.mit.edu	37	16	70562947	70562947	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:70562947G>A	ENST00000302516.5	+	3	453	c.242G>A	c.(241-243)gGc>gAc	p.G81D	SNORD111B_ENST00000408587.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	81					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ATTGTAGTTGGCAGTGACTCT	0.458																																						uc002ezf.2		NaN																	0				ovary(1)	1						c.(241-243)GGC>GAC		splicing factor 3b, subunit 3							133.0	118.0	123.0					16																	70562947		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70562947G>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.242G>A	16.37:g.70562947G>A	ENSP00000305790:p.Gly81Asp					SNORD111B_uc010cfv.1_5'Flank	p.G81D	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			3	453	+		Ovarian(137;0.0694)	81					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.242G>A	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077941	0.55753	.	.	ENSG00000189091	ENST00000302516;ENST00000310750	T	0.07444	3.19	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	H	0.94385	3.53	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.55842	-0.8077	10	0.54805	T	0.06	.	19.5928	0.95522	0.0:0.0:1.0:0.0	.	81	Q15393	SF3B3_HUMAN	D	81	ENSP00000305790:G81D	ENSP00000305790:G81D	G	+	2	0	SF3B3	69120448	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.869000	0.99810	2.624000	0.88883	0.561000	0.74099	GGC		0.458	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1		NM_012426		12	79	0	0	0	0.09319	0	12	79		
ZC3H18	124245	broad.mit.edu	37	16	88694357	88694357	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:88694357G>C	ENST00000301011.5	+	15	2499	c.2299G>C	c.(2299-2301)Gag>Cag	p.E767Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.E791Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	767						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGGTGTTAAAGAGGAAAAGCG	0.522																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NaN																	0				skin(1)	1						c.(2299-2301)GAG>CAG		zinc finger CCCH-type containing 18							61.0	73.0	69.0					16																	88694357		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88694357G>C	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2299G>C	16.37:g.88694357G>C	ENSP00000301011:p.Glu767Gln					ZC3H18_uc010voz.1_Missense_Mutation_p.E791Q|ZC3H18_uc010chw.2_Intron|ZC3H18_uc002fkz.2_Missense_Mutation_p.E37Q	p.E767Q	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	15	2499	+			767					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.2299G>C	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348045	0.82132	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	T;T	0.37058	1.26;1.22	4.88	4.88	0.63580	.	0.108055	0.64402	D	0.000007	T	0.54647	0.1871	L	0.56769	1.78	0.51767	D	0.999935	D;D	0.71674	0.998;0.998	D;D	0.73380	0.98;0.98	T	0.47586	-0.9106	10	0.17369	T	0.5	-15.1247	18.0337	0.89292	0.0:0.0:1.0:0.0	.	791;767	E7ERS3;Q86VM9	.;ZCH18_HUMAN	Q	767;791	ENSP00000301011:E767Q;ENSP00000416951:E791Q	ENSP00000301011:E767Q	E	+	1	0	ZC3H18	87221858	1.000000	0.71417	0.347000	0.25668	0.754000	0.42855	8.044000	0.89434	2.263000	0.75096	0.491000	0.48974	GAG		0.522	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1		NM_144604		13	75	0	0	0	0.024245	0	13	75		
SPIRE2	84501	broad.mit.edu	37	16	89925754	89925754	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:89925754G>C	ENST00000378247.3	+	9	1497	c.1454G>C	c.(1453-1455)cGa>cCa	p.R485P	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R485P	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	485					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCCGGCTCCCGAGACCAGGGC	0.697																																						uc002foz.1		NaN																	0				central_nervous_system(1)	1						c.(1453-1455)CGA>CCA		spire homolog 2							18.0	21.0	20.0					16																	89925754		2195	4295	6490	SO:0001583	missense	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89925754G>C	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1454G>C	16.37:g.89925754G>C	ENSP00000367494:p.Arg485Pro					SPIRE2_uc010civ.1_Missense_Mutation_p.R400P|SPIRE2_uc010ciw.1_Missense_Mutation_p.R485P|SPIRE2_uc002fpa.1_Missense_Mutation_p.R437P|SPIRE2_uc010cix.1_Missense_Mutation_p.R352P	p.R485P	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	9	1506	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	485					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.1454G>C	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116794	0.37339	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.47177	0.85;0.86	5.19	-1.91	0.07641	.	1.380360	0.04041	N	0.303104	T	0.44265	0.1285	M	0.72353	2.195	0.21652	N	0.999606	B;P;P;P	0.40032	0.124;0.699;0.566;0.465	B;B;B;B	0.39660	0.038;0.224;0.149;0.306	T	0.41610	-0.9499	10	0.48119	T	0.1	-3.0556	1.7889	0.03047	0.2177:0.1755:0.4333:0.1734	.	352;485;437;485	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	P	485	ENSP00000367494:R485P;ENSP00000376782:R485P	ENSP00000367494:R485P	R	+	2	0	SPIRE2	88453255	0.000000	0.05858	0.191000	0.23289	0.044000	0.14063	-0.033000	0.12246	0.082000	0.17018	-0.474000	0.04947	CGA		0.697	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1		XM_047462		2	14	0	0	0	0.004672	0	2	14		
CLUH	23277	broad.mit.edu	37	17	2601720	2601720	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:2601720G>A	ENST00000570628.2	-	10	1422	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	CLUH_ENST00000435359.1_Silent_p.F439F|CLUH_ENST00000538975.1_Silent_p.F439F			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	439					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CGTCCCCCCCGAAGTCCTTGT	0.622																																						uc002fuy.1		NaN																	0				breast(2)	2						c.(1315-1317)TTC>TTT		hypothetical protein LOC23277							43.0	49.0	47.0					17																	2601720		2104	4210	6314	SO:0001819	synonymous_variant	23277						binding	g.chr17:2601720G>A	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1317C>T	17.37:g.2601720G>A						KIAA0664_uc002fux.1_Silent_p.F371F	p.F439F	NM_015229	NP_056044	O75153	K0664_HUMAN			10	1403	-			439					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	ENST00000570628.2	37	c.1317C>T	CCDS45572.1																																																																																				0.622	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2		NM_015229		11	17	0	0	0	0.105934	0	11	17		
CLUH	23277	broad.mit.edu	37	17	2603983	2603983	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:2603983T>C	ENST00000570628.2	-	8	1153	c.1048A>G	c.(1048-1050)Att>Gtt	p.I350V	CLUH_ENST00000435359.1_Missense_Mutation_p.I350V|CLUH_ENST00000538975.1_Missense_Mutation_p.I350V			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	350					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											TGTCCAGGAATGTGCTCCTCA	0.662																																						uc002fuy.1		NaN																	0				breast(2)	2						c.(1048-1050)ATT>GTT		hypothetical protein LOC23277							46.0	52.0	50.0					17																	2603983		2157	4250	6407	SO:0001583	missense	23277						binding	g.chr17:2603983T>C	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1048A>G	17.37:g.2603983T>C	ENSP00000458986:p.Ile350Val					KIAA0664_uc002fux.1_Missense_Mutation_p.I282V	p.I350V	NM_015229	NP_056044	O75153	K0664_HUMAN			8	1134	-			350					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.1048A>G	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072206	0.76415	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80653	-1.4;-1.4	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.84234	0.5427	M	0.81682	2.555	0.52501	D	0.999958	P;P	0.39044	0.656;0.656	B;P	0.44732	0.358;0.459	D	0.83935	0.0308	10	0.35671	T	0.21	.	14.6428	0.68737	0.0:0.0:0.0:1.0	.	350;350	O75153;C9J6D7	K0664_HUMAN;.	V	350	ENSP00000388872:I350V;ENSP00000439628:I350V	ENSP00000320468:I350V	I	-	1	0	KIAA0664	2550733	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.687000	0.84139	2.058000	0.61347	0.454000	0.30748	ATT		0.662	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2		NM_015229		4	35	0	0	0	0.014758	0	4	35		
ABHD15	116236	broad.mit.edu	37	17	27889911	27889911	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:27889911C>T	ENST00000307201.4	-	2	1245	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	359						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ACGGGGTCGTCAGCACTGCAG	0.602																																						uc002hed.1		NaN																	0					0						c.(1075-1077)GAC>AAC		abhydrolase domain containing 15 precursor							79.0	75.0	76.0					17																	27889911		2203	4300	6503	SO:0001583	missense	116236					extracellular region	carboxylesterase activity	g.chr17:27889911C>T	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1075G>A	17.37:g.27889911C>T	ENSP00000302657:p.Asp359Asn						p.D359N	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN			2	1139	-			359					Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	37	c.1075G>A	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494151	0.96339	.	.	ENSG00000168792	ENST00000307201	T	0.26067	1.76	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54622	-0.8266	10	0.49607	T	0.09	-12.1235	18.716	0.91675	0.0:1.0:0.0:0.0	.	359	Q6UXT9	ABH15_HUMAN	N	359	ENSP00000302657:D359N	ENSP00000302657:D359N	D	-	1	0	ABHD15	24914037	1.000000	0.71417	0.856000	0.33681	0.991000	0.79684	7.070000	0.76763	2.779000	0.95612	0.655000	0.94253	GAC		0.602	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2		NM_198147		9	69	0	0	0	0.058154	0	9	69		
SUZ12	23512	broad.mit.edu	37	17	30315444	30315444	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:30315444C>T	ENST00000322652.5	+	10	1358	c.1129C>T	c.(1129-1131)Ctt>Ttt	p.L377F	SUZ12_ENST00000580398.1_Missense_Mutation_p.L354F	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	377					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TGCCAAACCTCTTGCCACTAG	0.413			T	JAZF1	endometrial stromal tumours																																	uc002hgs.2		NaN		Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	JAZF1/SUZ12(131)	0				soft_tissue(98)|endometrium(33)	131						c.(1129-1131)CTT>TTT		joined to JAZF1							81.0	82.0	82.0					17																	30315444		2203	4300	6503	SO:0001583	missense	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30315444C>T	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1129C>T	17.37:g.30315444C>T	ENSP00000316578:p.Leu377Phe					SUZ12_uc002hgt.2_Missense_Mutation_p.L354F	p.L377F	NM_015355	NP_056170	Q15022	SUZ12_HUMAN			10	1351	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	377					Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	c.1129C>T	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	c	17.01	3.279263	0.59758	.	.	ENSG00000178691	ENST00000322652	T	0.49720	0.77	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.66188	-0.5986	10	0.48119	T	0.1	-11.377	19.7638	0.96333	0.0:1.0:0.0:0.0	.	377;377	A8K1U9;Q15022	.;SUZ12_HUMAN	F	377	ENSP00000316578:L377F	ENSP00000316578:L377F	L	+	1	0	SUZ12	27339557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.673000	0.90976	0.650000	0.86243	CTT		0.413	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2		NM_015355		8	41	0	0	0	0.047766	0	8	41		
POLG2	11232	broad.mit.edu	37	17	62486958	62486958	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:62486958A>C	ENST00000539111.2	-	4	991	c.924T>G	c.(922-924)gaT>gaG	p.D308E		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	308					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AAAGTTCGTGATCTCCTAGGT	0.393																																					Colon(3;18 21 435 17652 48887)	uc002jei.2		NaN																	0				central_nervous_system(1)	1						c.(922-924)GAT>GAG		DNA polymerase subunit gamma-2, mitochondrial							118.0	105.0	110.0					17																	62486958		2203	4300	6503	SO:0001583	missense	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62486958A>C	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.924T>G	17.37:g.62486958A>C	ENSP00000442563:p.Asp308Glu					POLG2_uc010deg.1_Missense_Mutation_p.D308E	p.D308E	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		4	1007	-	Breast(5;2.15e-14)		308					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	c.924T>G	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	A	9.324	1.058804	0.19987	.	.	ENSG00000256525	ENST00000539111	T	0.79352	-1.26	5.43	-1.66	0.08265	.	0.159422	0.53938	N	0.000055	T	0.66752	0.2821	L	0.52905	1.665	0.24917	N	0.992005	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.59064	-0.7524	10	0.87932	D	0	-9.6508	6.7922	0.23705	0.4722:0.2132:0.3146:0.0	.	308;308	E5KS15;Q9UHN1	.;DPOG2_HUMAN	E	308	ENSP00000442563:D308E	ENSP00000442563:D308E	D	-	3	2	POLG2	59917420	0.799000	0.28903	0.066000	0.19879	0.092000	0.18411	0.602000	0.24134	-0.239000	0.09710	0.533000	0.62120	GAT		0.393	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1		NM_007215		9	101	0	0	0	0.069234	0	9	101		
RGS9	8787	broad.mit.edu	37	17	63173909	63173909	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:63173909C>G	ENST00000262406.9	+	9	709	c.642C>G	c.(640-642)gtC>gtG	p.V214V	RGS9_ENST00000443584.3_Silent_p.V214V|RGS9_ENST00000449996.3_Silent_p.V214V|RGS9_ENST00000577186.1_3'UTR	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	214					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGAATGAAGTCAAGGTAAACC	0.493																																						uc002jfe.2		NaN																	0				ovary(2)|skin(2)	4						c.(640-642)GTC>GTG		regulator of G-protein signaling 9 isoform 1							199.0	194.0	195.0					17																	63173909		1982	4167	6149	SO:0001819	synonymous_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63173909C>G	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.642C>G	17.37:g.63173909C>G						RGS9_uc010dem.2_Silent_p.V214V|RGS9_uc002jfd.2_Silent_p.V214V|RGS9_uc002jff.2_RNA	p.V214V	NM_003835	NP_003826	O75916	RGS9_HUMAN			9	752	+			214					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Silent	SNP	ENST00000262406.9	37	c.642C>G	CCDS42373.1																																																																																				0.493	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1		NM_003835		33	130	0	0	0	0.064281	0	33	130		
BPTF	2186	broad.mit.edu	37	17	65907091	65907091	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:65907091C>A	ENST00000321892.4	+	13	3530	c.3469C>A	c.(3469-3471)Cag>Aag	p.Q1157K	BPTF_ENST00000335221.5_Missense_Mutation_p.Q1157K|BPTF_ENST00000424123.3_Missense_Mutation_p.Q1018K|BPTF_ENST00000306378.6_Missense_Mutation_p.Q1031K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1157					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTAAATTGTCAGGAGAGTTC	0.383																																						uc002jgf.2		NaN																	0				ovary(2)|skin(2)	4						c.(3091-3093)CAG>AAG		bromodomain PHD finger transcription factor							92.0	88.0	90.0					17																	65907091		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65907091C>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3469C>A	17.37:g.65907091C>A	ENSP00000315454:p.Gln1157Lys					BPTF_uc002jge.2_Missense_Mutation_p.Q1157K	p.Q1031K	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		11	3152	+	all_cancers(12;6e-11)		1157					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.3091C>A		.	.	.	.	.	.	.	.	.	.	C	8.077	0.771490	0.16051	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.61627	0.1;0.09;0.1	5.64	3.44	0.39384	.	.	.	.	.	T	0.42517	0.1206	N	0.19112	0.55	0.27413	N	0.954522	B;B	0.25904	0.017;0.137	B;B	0.25140	0.009;0.058	T	0.25710	-1.0124	9	0.25106	T	0.35	-8.1798	13.713	0.62680	0.0:0.5255:0.4745:0.0	.	1031;1157	Q12830-2;Q12830-4	.;.	K	1031;1157;1157	ENSP00000307208:Q1031K;ENSP00000334351:Q1157K;ENSP00000315454:Q1157K	ENSP00000307208:Q1031K	Q	+	1	0	BPTF	63337553	0.997000	0.39634	0.921000	0.36526	0.410000	0.31052	1.841000	0.39240	1.497000	0.48584	0.650000	0.86243	CAG		0.383	BPTF-201	KNOWN	basic	protein_coding	protein_coding			NM_182641, NM_004459		9	62	1	0	0.000274275	0.047766	0.000287781	9	62		
TTYH2	94015	broad.mit.edu	37	17	72233573	72233573	+	Silent	SNP	C	C	G	rs370026137		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:72233573C>G	ENST00000269346.4	+	4	629	c.555C>G	c.(553-555)ctC>ctG	p.L185L	TTYH2_ENST00000529107.1_Silent_p.L164L	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	185						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TTGTTCAGCTCTCAGGACTGC	0.602																																						uc002jkc.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(553-555)CTC>CTG		tweety 2 isoform 1							78.0	71.0	73.0					17																	72233573		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72233573C>G		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.555C>G	17.37:g.72233573C>G						TTYH2_uc010wqw.1_Silent_p.L164L	p.L185L	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			4	586	+			185			Extracellular (Potential).		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.555C>G	CCDS32717.1																																																																																				0.602	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1				6	83	0	0	0	0.038147	0	6	83		
TMEM104	54868	broad.mit.edu	37	17	72781647	72781647	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:72781647C>T	ENST00000335464.5	+	3	234	c.72C>T	c.(70-72)ctC>ctT	p.L24L	TMEM104_ENST00000582330.1_Silent_p.L24L|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Silent_p.L24L	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	24						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TGTTTAACCTCATCGTGGGCA	0.572																																						uc002jls.3		NaN																	0					0						c.(70-72)CTC>CTT		transmembrane protein 104							142.0	123.0	130.0					17																	72781647		2203	4300	6503	SO:0001819	synonymous_variant	54868					integral to membrane		g.chr17:72781647C>T	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.72C>T	17.37:g.72781647C>T						TMEM104_uc010wrf.1_Silent_p.L24L|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Silent_p.L24L	p.L24L	NM_017728	NP_060198	Q8NE00	TM104_HUMAN			3	234	+	all_lung(278;0.23)		24			Helical; (Potential).		Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	ENST00000335464.5	37	c.72C>T	CCDS32723.1																																																																																				0.572	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1		NM_017728		21	195	0	0	0	0.069288	0	21	195		
TSEN54	283989	broad.mit.edu	37	17	73512921	73512921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:73512921C>T	ENST00000333213.6	+	2	187	c.151C>T	c.(151-153)Cag>Tag	p.Q51*	CASKIN2_ENST00000581870.1_5'Flank|CASKIN2_ENST00000321617.3_5'Flank|TSEN54_ENST00000580013.1_3'UTR	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	51					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCGGCAGCTCAGGCCGAGCG	0.736																																						uc002jof.1		NaN																	0				ovary(1)	1						c.(151-153)CAG>TAG		tRNA splicing endonuclease 54 homolog							4.0	6.0	5.0					17																	73512921		1391	3214	4605	SO:0001587	stop_gained	283989				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus		g.chr17:73512921C>T	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.151C>T	17.37:g.73512921C>T	ENSP00000327487:p.Gln51*					CASKIN2_uc002joc.2_5'Flank|CASKIN2_uc002jod.2_5'Flank|TSEN54_uc002joe.1_Nonsense_Mutation_p.Q51*	p.Q51*	NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	184	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		51					Q86WV3|Q86XE4|Q8N9H2	Nonsense_Mutation	SNP	ENST00000333213.6	37	c.151C>T	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	C	36	5.951056	0.97139	.	.	ENSG00000182173	ENST00000333213;ENST00000545228	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.8517	17.2972	0.87173	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000327487:Q51X	Q	+	1	0	TSEN54	71024516	1.000000	0.71417	0.959000	0.39883	0.789000	0.44602	6.366000	0.73095	2.258000	0.74832	0.462000	0.41574	CAG		0.736	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1		NM_207346		3	15	0	0	0	0.004672	0	3	15		
METRNL	284207	broad.mit.edu	37	17	81052039	81052039	+	Missense_Mutation	SNP	G	G	A	rs147805686		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:81052039G>A	ENST00000320095.7	+	4	780	c.655G>A	c.(655-657)Gag>Aag	p.E219K	METRNL_ENST00000571940.1_3'UTR|METRNL_ENST00000571814.1_Missense_Mutation_p.E137K|METRNL_ENST00000570778.1_Missense_Mutation_p.E137K	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	219					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CCACGAGCCTGAGCGGCAGGA	0.637																																						uc002kgh.2		NaN																	0					0						c.(655-657)GAG>AAG		meteorin, glial cell differentiation							76.0	74.0	74.0					17																	81052039		2203	4296	6499	SO:0001583	missense	284207					extracellular region		g.chr17:81052039G>A	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.655G>A	17.37:g.81052039G>A	ENSP00000315731:p.Glu219Lys					METRNL_uc002kgi.2_Missense_Mutation_p.E137K	p.E219K	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		4	780	+	Breast(20;0.000443)|all_neural(118;0.0779)		219					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.655G>A	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999726	0.54147	.	.	ENSG00000176845	ENST00000320095	T	0.32515	1.45	4.98	3.98	0.46160	.	0.000000	0.85682	U	0.000000	T	0.55081	0.1898	M	0.81802	2.56	0.53005	D	0.99996	D	0.76494	0.999	D	0.73708	0.981	T	0.59064	-0.7524	9	.	.	.	-22.7389	12.6247	0.56623	0.0:0.0:0.8331:0.1669	.	219	Q641Q3	METRL_HUMAN	K	219	ENSP00000315731:E219K	.	E	+	1	0	METRNL	78645459	1.000000	0.71417	0.005000	0.12908	0.009000	0.06853	6.033000	0.70925	1.187000	0.43000	0.561000	0.74099	GAG		0.637	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1		NM_001004431		4	167	0	0	0	0.021553	0	4	167		
ZNF521	25925	broad.mit.edu	37	18	22807156	22807156	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr18:22807156C>T	ENST00000361524.3	-	4	874	c.726G>A	c.(724-726)atG>atA	p.M242I	ZNF521_ENST00000538137.2_Missense_Mutation_p.M242I|ZNF521_ENST00000584787.1_Missense_Mutation_p.M22I|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	242					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGTGTCCTTCATCTTCCAGT	0.527			T	PAX5	ALL																																	uc002kvk.2		NaN		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(724-726)ATG>ATA		zinc finger protein 521							130.0	107.0	115.0					18																	22807156		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807156C>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.726G>A	18.37:g.22807156C>T	ENSP00000354794:p.Met242Ile					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.M242I|ZNF521_uc002kvl.2_Missense_Mutation_p.M22I	p.M242I	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	973	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		242					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.726G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	9.331	1.060425	0.19987	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.07908	3.15;3.18	5.92	5.06	0.68205	.	0.251812	0.47455	D	0.000239	T	0.05640	0.0148	N	0.08118	0	0.34567	D	0.713048	B	0.11235	0.004	B	0.06405	0.002	T	0.19063	-1.0317	10	0.41790	T	0.15	-14.3503	15.0806	0.72110	0.0:0.9322:0.0:0.0677	.	242	Q96K83	ZN521_HUMAN	I	242;276;242	ENSP00000354794:M242I;ENSP00000382352:M242I	ENSP00000354794:M242I	M	-	3	0	ZNF521	21061154	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.769000	0.55303	1.530000	0.49136	-0.136000	0.14681	ATG		0.527	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2		NM_015461		16	59	0	0	0	0.024245	0	16	59		
DSG1	1828	broad.mit.edu	37	18	28908201	28908201	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr18:28908201G>C	ENST00000257192.4	+	4	478	c.266G>C	c.(265-267)gGa>gCa	p.G89A		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CGCATCTCTGGAGTAGGAATT	0.388																																						uc002kwp.2		NaN																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(265-267)GGA>GCA		desmoglein 1 preproprotein							96.0	93.0	94.0					18																	28908201		2203	4299	6502	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28908201G>C	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.266G>C	18.37:g.28908201G>C	ENSP00000257192:p.Gly89Ala						p.G89A	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		4	478	+			89			Extracellular (Potential).|Cadherin 1.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.266G>C	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526393	0.85600	.	.	ENSG00000134760	ENST00000257192	T	0.62498	0.02	5.59	5.59	0.84812	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000010	D	0.84428	0.5470	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87471	0.2414	10	0.87932	D	0	.	19.5954	0.95535	0.0:0.0:1.0:0.0	.	89	Q02413	DSG1_HUMAN	A	89	ENSP00000257192:G89A	ENSP00000257192:G89A	G	+	2	0	DSG1	27162199	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.817000	0.86213	2.635000	0.89317	0.563000	0.77884	GGA		0.388	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1		NM_001942		15	65	0	0	0	0.0333	0	15	65		
RTTN	25914	broad.mit.edu	37	18	67816249	67816249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr18:67816249G>C	ENST00000255674.6	-	17	2483	c.2197C>G	c.(2197-2199)Ctg>Gtg	p.L733V	RTTN_ENST00000454359.1_Missense_Mutation_p.L733V|RTTN_ENST00000437017.1_Missense_Mutation_p.L733V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	733					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.L733V(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAGTTACCCAGAGGATCTTCT	0.368																																						uc002lkp.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(2197-2199)CTG>GTG		rotatin							144.0	135.0	138.0					18																	67816249		1846	4092	5938	SO:0001583	missense	25914						binding	g.chr18:67816249G>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2197C>G	18.37:g.67816249G>C	ENSP00000255674:p.Leu733Val					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	p.L733V	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			17	2265	-		Esophageal squamous(42;0.129)	733					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.2197C>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	g	15.42	2.828446	0.50845	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.65732	2.82;-0.17;-0.1	5.06	-1.64	0.08318	Armadillo-like helical (1);Armadillo-type fold (1);	0.082287	0.49916	D	0.000128	T	0.70631	0.3246	M	0.65498	2.005	0.33986	D	0.648584	D	0.76494	0.999	D	0.64877	0.93	T	0.74825	-0.3533	10	0.49607	T	0.09	.	11.8783	0.52560	0.43:0.0:0.57:0.0	.	733	Q86VV8	RTTN_HUMAN	V	733	ENSP00000255674:L733V;ENSP00000402352:L733V;ENSP00000399520:L733V	ENSP00000255674:L733V	L	-	1	2	RTTN	65967229	0.061000	0.20836	0.071000	0.20095	0.961000	0.63080	0.297000	0.19101	-0.593000	0.05844	-0.404000	0.06349	CTG		0.368	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1		NM_173630		19	91	0	0	0	0.076483	0	19	91		
MYO1F	4542	broad.mit.edu	37	19	8617036	8617036	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:8617036C>G	ENST00000338257.8	-	7	784	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	173	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AACTGGATCTCAAAGTACTTG	0.557																																						uc002mkg.2		NaN																	0				ovary(2)|skin(1)	3						c.(517-519)GAG>CAG		myosin IF							98.0	97.0	97.0					19																	8617036		1952	4185	6137	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8617036C>G	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.517G>C	19.37:g.8617036C>G	ENSP00000344871:p.Glu173Gln					MYO1F_uc002mkh.2_Missense_Mutation_p.E173Q|MYO1F_uc010xkf.1_Missense_Mutation_p.E173Q	p.E173Q	NM_012335	NP_036467	O00160	MYO1F_HUMAN			7	631	-			173			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.517G>C	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947506	0.73672	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.95724	-3.79	3.93	3.93	0.45458	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.96340	0.8806	L	0.56199	1.76	0.80722	D	1	D;D;D	0.69078	0.997;0.994;0.971	D;P;P	0.64237	0.923;0.901;0.777	D	0.96498	0.9369	10	0.56958	D	0.05	.	15.1284	0.72500	0.0:1.0:0.0:0.0	.	173;173;173	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	Q	218;173	ENSP00000344871:E173Q	ENSP00000304899:E218Q	E	-	1	0	MYO1F	8523036	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.651000	0.83577	2.048000	0.60808	0.460000	0.39030	GAG		0.557	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2				7	125	0	0	0	0.058154	0	7	125		
LDLR	3949	broad.mit.edu	37	19	11213402	11213402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:11213402C>T	ENST00000558518.1	+	3	440	c.253C>T	c.(253-255)Cag>Tag	p.Q85*	LDLR_ENST00000455727.2_Nonsense_Mutation_p.Q85*|LDLR_ENST00000558013.1_Nonsense_Mutation_p.Q85*|LDLR_ENST00000557933.1_Nonsense_Mutation_p.Q85*|LDLR_ENST00000545707.1_Nonsense_Mutation_p.Q85*|LDLR_ENST00000535915.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	85	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CTGCATTCCTCAGTTCTGGAG	0.547																																					GBM(18;201 575 7820 21545)	uc002mqk.3		NaN																	1	Unknown(1)		lung(1)	ovary(2)|skin(2)	4	GRCh37	CM950750	LDLR	M		c.(253-255)CAG>TAG		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						172.0	148.0	156.0					19																	11213402		2203	4300	6503	SO:0001587	stop_gained	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11213402C>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.253C>T	19.37:g.11213402C>T	ENSP00000454071:p.Gln85*					LDLR_uc010xlk.1_Nonsense_Mutation_p.Q85*|LDLR_uc010xll.1_Intron|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Nonsense_Mutation_p.Q85*|LDLR_uc010xlo.1_Nonsense_Mutation_p.Q85*	p.Q85*	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	3	421	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	85			Extracellular (Potential).|LDL-receptor class A 2.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Nonsense_Mutation	SNP	ENST00000558518.1	37	c.253C>T	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292515	0.59976	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000455727	.	.	.	5.65	-8.25	0.01025	.	1.034090	0.07752	N	0.948708	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	5.7625	0.18209	0.2305:0.2479:0.4476:0.0741	.	.	.	.	X	85	.	ENSP00000252444:Q85X	Q	+	1	0	LDLR	11074402	0.000000	0.05858	0.000000	0.03702	0.777000	0.43975	-1.089000	0.03376	-0.985000	0.03503	0.591000	0.81541	CAG		0.547	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2				27	125	0	0	0	0.041601	0	27	125		
ZFP30	22835	broad.mit.edu	37	19	38126225	38126225	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:38126225C>T	ENST00000351218.2	-	6	1774	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	ZFP30_ENST00000392144.1_Missense_Mutation_p.G406E|ZFP30_ENST00000514101.2_Missense_Mutation_p.G406E|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTTTCTCTCCAATGTGAAT	0.388																																						uc002ogv.1		NaN																	0					0						c.(1216-1218)GGA>GAA		zinc finger protein 30 homolog							62.0	64.0	63.0					19																	38126225		2203	4300	6503	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38126225C>T	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1217G>A	19.37:g.38126225C>T	ENSP00000343581:p.Gly406Glu					ZFP30_uc002ogw.1_Missense_Mutation_p.G406E|ZFP30_uc002ogx.1_Missense_Mutation_p.G406E|ZFP30_uc010xtt.1_Missense_Mutation_p.G405E	p.G406E	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1733	-			406					Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.1217G>A	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597263	0.66332	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.25749	1.78;1.78;1.78	3.9	3.9	0.45041	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34291	N	0.004082	T	0.45856	0.1363	L	0.55213	1.73	0.42541	D	0.993077	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49103	-0.8974	10	0.66056	D	0.02	.	15.1477	0.72671	0.0:1.0:0.0:0.0	.	406;406	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	E	406;406;406;321	ENSP00000343581:G406E;ENSP00000422930:G406E;ENSP00000375988:G406E	ENSP00000343581:G406E	G	-	2	0	ZFP30	42818065	0.822000	0.29219	1.000000	0.80357	0.996000	0.88848	2.255000	0.43222	2.175000	0.68902	0.591000	0.81541	GGA		0.388	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2		NM_014898		8	47	0	0	0	0.069234	0	8	47		
ZNF781	163115	broad.mit.edu	37	19	38160986	38160986	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:38160986G>C	ENST00000590008.1	-	5	916	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Missense_Mutation_p.Q22E|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						ATTTGATATTGAGTTAGTTGA	0.343																																						uc002ogy.2		NaN																	0					0						c.(64-66)CAA>GAA		zinc finger protein 781							129.0	129.0	129.0					19																	38160986		2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160986G>C	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.64C>G	19.37:g.38160986G>C	ENSP00000466370:p.Gln22Glu					ZNF781_uc002ogz.2_Missense_Mutation_p.Q17E	p.Q22E	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN			4	806	-			22					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.64C>G	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	G	3.904	-0.021494	0.07634	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.15139	2.45	2.28	1.0	0.19881	.	.	.	.	.	T	0.13030	0.0316	N	0.20445	0.575	0.09310	N	1	B	0.25441	0.126	B	0.43916	0.436	T	0.51679	-0.8675	9	0.11182	T	0.66	.	2.5895	0.04838	0.3079:0.2718:0.4202:0.0	.	22	Q8N8C0	ZN781_HUMAN	E	22	ENSP00000351391:Q22E	ENSP00000351391:Q22E	Q	-	1	0	ZNF781	42852826	0.000000	0.05858	0.086000	0.20670	0.424000	0.31475	-0.967000	0.03821	1.250000	0.43966	0.411000	0.27672	CAA		0.343	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2		NM_152605		17	123	0	0	0	0.043863	0	17	123		
ZNF233	353355	broad.mit.edu	37	19	44778410	44778410	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:44778410G>C	ENST00000391958.2	+	5	1724	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.E515Q|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TCACAAAGGAGAGAAGCCATA	0.468																																						uc002oyz.1		NaN																	0				skin(2)	2						c.(1597-1599)GAG>CAG		zinc finger protein 233							85.0	80.0	81.0					19																	44778410		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778410G>C	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1597G>C	19.37:g.44778410G>C	ENSP00000375820:p.Glu533Gln					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.E348Q	p.E533Q	NM_181756	NP_861421	A6NK53	ZN233_HUMAN			5	1724	+		Prostate(69;0.0435)|all_neural(266;0.226)	533					B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.1597G>C	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763563	0.69878	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.25912	1.77;1.77	4.26	3.22	0.36961	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41259	0.1151	L	0.49513	1.565	0.34140	D	0.666252	D	0.76494	0.999	D	0.71414	0.973	T	0.54846	-0.8232	9	0.72032	D	0.01	-28.6409	10.3811	0.44113	0.0997:0.0:0.9003:0.0	.	533	A6NK53	ZN233_HUMAN	Q	515;533;428	ENSP00000334957:E515Q;ENSP00000375820:E533Q	ENSP00000280305:E428Q	E	+	1	0	ZNF233	49470250	0.951000	0.32395	0.221000	0.23827	0.997000	0.91878	4.387000	0.59626	1.916000	0.55485	0.609000	0.83330	GAG		0.468	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1		NM_181756		8	59	0	0	0	0.069234	0	8	59		
ZNF233	353355	broad.mit.edu	37	19	44778580	44778580	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:44778580G>C	ENST00000391958.2	+	5	1894	c.1767G>C	c.(1765-1767)gaG>gaC	p.E589D	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.E571D|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E589E(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ACACAGGAGAGAAACCATACA	0.438																																						uc002oyz.1		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	skin(2)	2						c.(1765-1767)GAG>GAC		zinc finger protein 233							92.0	92.0	92.0					19																	44778580		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778580G>C	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1767G>C	19.37:g.44778580G>C	ENSP00000375820:p.Glu589Asp					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.E404D	p.E589D	NM_181756	NP_861421	A6NK53	ZN233_HUMAN			5	1894	+		Prostate(69;0.0435)|all_neural(266;0.226)	589					B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.1767G>C	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368662	0.61624	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.26810	1.71;1.71	4.08	3.01	0.34805	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35653	0.0939	L	0.38953	1.18	0.33329	D	0.568371	D	0.71674	0.998	D	0.67900	0.954	T	0.46555	-0.9183	9	0.72032	D	0.01	-15.016	9.0574	0.36414	0.1802:0.0:0.8198:0.0	.	589	A6NK53	ZN233_HUMAN	D	571;589;484	ENSP00000334957:E571D;ENSP00000375820:E589D	ENSP00000280305:E484D	E	+	3	2	ZNF233	49470420	0.987000	0.35691	0.474000	0.27266	0.978000	0.69477	0.189000	0.17037	1.990000	0.58119	0.609000	0.83330	GAG		0.438	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1		NM_181756		3	103	0	0	0	0.004672	0	3	103		
MYH14	79784	broad.mit.edu	37	19	50764812	50764812	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:50764812G>T	ENST00000596571.1	+	18	2382	c.2382G>T	c.(2380-2382)caG>caT	p.Q794H	MYH14_ENST00000440075.2_Missense_Mutation_p.Q835H|MYH14_ENST00000262269.8_Missense_Mutation_p.Q835H|MYH14_ENST00000376970.2_Missense_Mutation_p.Q827H|MYH14_ENST00000601313.1_Missense_Mutation_p.Q835H|MYH14_ENST00000598205.1_Missense_Mutation_p.Q802H|MYH14_ENST00000425460.1_Missense_Mutation_p.Q802H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	794	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Q794H(2)|p.Q835H(2)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCCTGGCCCAGCTGGAAGAGG	0.647																																						uc002prr.1		NaN																	4	Substitution - Missense(4)		lung(2)|endometrium(2)	central_nervous_system(1)	1						c.(2380-2382)CAG>CAT		myosin, heavy chain 14 isoform 2							37.0	42.0	40.0					19																	50764812		2092	4235	6327	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50764812G>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2382G>T	19.37:g.50764812G>T	ENSP00000472819:p.Gln794His					MYH14_uc010enu.1_Missense_Mutation_p.Q835H|MYH14_uc002prq.1_Missense_Mutation_p.Q802H	p.Q794H	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	19	2429	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	794			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.2382G>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	1.066	-0.671391	0.03403	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	4.48	0.947	0.19555	Myosin head, motor domain (1);	.	.	.	.	T	0.37839	0.1018	N	0.03194	-0.395	0.31545	N	0.659488	B;B;B	0.15719	0.014;0.003;0.005	B;B;B	0.19148	0.024;0.006;0.006	T	0.31420	-0.9944	9	0.12430	T	0.62	.	1.8085	0.03085	0.1802:0.1607:0.4942:0.1648	.	835;794;802	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	794;835;827;802;794;835	ENSP00000406273:Q835H;ENSP00000366169:Q827H;ENSP00000407879:Q802H;ENSP00000262269:Q835H	ENSP00000262269:Q835H	Q	+	3	2	MYH14	55456624	0.866000	0.29940	1.000000	0.80357	0.990000	0.78478	-0.030000	0.12308	0.209000	0.20645	0.555000	0.69702	CAG		0.647	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2		NM_024729		6	37	1	0	2.0095e-06	0.02938	2.18287e-06	6	37		
ZIK1	284307	broad.mit.edu	37	19	58101415	58101415	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:58101415C>T	ENST00000597850.1	+	4	451	c.236C>T	c.(235-237)tCt>tTt	p.S79F	ZIK1_ENST00000307468.4_Silent_p.L24L|ZIK1_ENST00000536878.2_Missense_Mutation_p.S66F|ZIK1_ENST00000599456.1_Missense_Mutation_p.S24F	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGACACCTTCTGACCAGAAT	0.458																																						uc002qpg.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(235-237)TCT>TTT		zinc finger protein interacting with K protein							85.0	73.0	77.0					19																	58101415		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101415C>T	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.236C>T	19.37:g.58101415C>T	ENSP00000472867:p.Ser79Phe					ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.S24F|ZIK1_uc002qpi.2_Missense_Mutation_p.S66F|ZIK1_uc002qpj.2_5'UTR	p.S79F	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	333	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	79			KRAB.		O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.236C>T	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	C	4.212	0.038228	0.08148	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.00792	5.69	2.6	2.6	0.31112	Krueppel-associated box (3);	.	.	.	.	T	0.01124	0.0037	N	0.12502	0.225	0.09310	N	0.999999	D;D	0.69078	0.995;0.997	D;P	0.66497	0.944;0.88	T	0.56805	-0.7918	9	0.09590	T	0.72	.	8.8351	0.35107	0.0:1.0:0.0:0.0	.	66;79	F5H435;Q3SY52	.;ZIK1_HUMAN	F	66;60;79	ENSP00000438487:S66F	ENSP00000303820:S79F	S	+	2	0	ZIK1	62793227	0.000000	0.05858	0.070000	0.20053	0.747000	0.42532	-0.019000	0.12546	1.757000	0.51966	0.555000	0.69702	TCT		0.458	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1		NM_001010879		8	45	0	0	0	0.047766	0	8	45		
GRHL1	29841	broad.mit.edu	37	2	10136044	10136044	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:10136044G>A	ENST00000324907.9	+	13	1673	c.1537G>A	c.(1537-1539)Gac>Aac	p.D513N	GRHL1_ENST00000405379.2_Missense_Mutation_p.D513N|GRHL1_ENST00000324883.5_Missense_Mutation_p.D324N|GRHL1_ENST00000480736.1_5'UTR	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	513					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CACAGAAGATGACTTTGCTGT	0.458																																						uc002raa.2		NaN																	0				pancreas(1)|skin(1)	2						c.(1537-1539)GAC>AAC		grainyhead-like 1							181.0	185.0	184.0					2																	10136044		2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10136044G>A	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1537G>A	2.37:g.10136044G>A	ENSP00000324693:p.Asp513Asn					GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.D324N|GRHL1_uc010yjb.1_Missense_Mutation_p.D362N	p.D513N	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	13	1708	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		513					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.1537G>A	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	G	35	5.473985	0.96291	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.17854	2.71;2.25;2.71	6.03	6.03	0.97812	.	0.134314	0.64402	D	0.000003	T	0.32675	0.0837	L	0.58101	1.795	0.80722	D	1	P;B	0.45283	0.855;0.43	P;B	0.49953	0.627;0.309	T	0.00247	-1.1881	10	0.52906	T	0.07	-12.7911	20.5568	0.99304	0.0:0.0:1.0:0.0	.	324;513	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	N	513;324;513	ENSP00000384209:D513N;ENSP00000324494:D324N;ENSP00000324693:D513N	ENSP00000324494:D324N	D	+	1	0	GRHL1	10053495	1.000000	0.71417	0.955000	0.39395	0.958000	0.62258	7.949000	0.87791	2.861000	0.98227	0.655000	0.94253	GAC		0.458	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2		NM_014552		30	202	0	0	0	0.064281	0	30	202		
PLB1	151056	broad.mit.edu	37	2	28801013	28801013	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:28801013G>A	ENST00000327757.5	+	22	1517	c.1473G>A	c.(1471-1473)atG>atA	p.M491I	PLB1_ENST00000422425.2_Missense_Mutation_p.M502I|PLB1_ENST00000329020.6_Missense_Mutation_p.M179I	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	491	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGACCTGATGAAGAATGACA	0.582																																						uc002rmb.1		NaN																	0				ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(1471-1473)ATG>ATA		phospholipase B1 precursor							75.0	68.0	71.0					2																	28801013		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28801013G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1473G>A	2.37:g.28801013G>A	ENSP00000330442:p.Met491Ile					PLB1_uc010ezj.1_Missense_Mutation_p.M502I|PLB1_uc002rmc.2_Missense_Mutation_p.M179I|PLB1_uc002rmd.1_Missense_Mutation_p.M1I	p.M491I	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			22	1473	+	Acute lymphoblastic leukemia(172;0.155)		491			4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.1473G>A	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183450	0.78677	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.63	5.63	0.86233	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.093124	0.64402	D	0.000001	T	0.28566	0.0707	L	0.51914	1.62	0.80722	D	1	D;D;D;P	0.63046	0.992;0.983;0.97;0.544	D;P;P;P	0.65140	0.932;0.881;0.851;0.51	T	0.01130	-1.1442	10	0.16896	T	0.51	-34.5506	16.6003	0.84812	0.0:0.0:1.0:0.0	.	502;491;179;491	Q6P1J6-3;Q6P1J6-4;Q6P1J6-2;Q6P1J6	.;.;.;PLB1_HUMAN	I	491;502;201;179	ENSP00000330442:M491I;ENSP00000416440:M502I;ENSP00000392493:M201I;ENSP00000330729:M179I	ENSP00000330442:M491I	M	+	3	0	PLB1	28654517	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.872000	0.69636	2.654000	0.90174	0.561000	0.74099	ATG		0.582	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2				4	58	0	0	0	0.014758	0	4	58		
XDH	7498	broad.mit.edu	37	2	31572693	31572693	+	Missense_Mutation	SNP	C	C	T	rs138396004	byFrequency	TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:31572693C>T	ENST00000379416.3	-	26	2876	c.2828G>A	c.(2827-2829)cGg>cAg	p.R943Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	943					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GTTTTTTCTCCGCACCTTCCC	0.542																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NaN																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(2827-2829)CGG>CAG		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	C	GLN/ARG	0,4406		0,0,2203	110.0	108.0	108.0		2828	6.0	1.0	2	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense	XDH	NM_000379.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	943/1334	31572693	1,13005	2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31572693C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2828G>A	2.37:g.31572693C>T	ENSP00000368727:p.Arg943Gln						p.R943Q	NM_000379	NP_000370	P47989	XDH_HUMAN			26	2907	-	Acute lymphoblastic leukemia(172;0.155)		943					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.2828G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	35	5.549662	0.96501	0.0	1.16E-4	ENSG00000158125	ENST00000379416	T	0.69435	-0.4	6.02	6.02	0.97574	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	D	0.85796	0.5780	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86947	0.2083	10	0.72032	D	0.01	.	20.1477	0.98083	0.0:1.0:0.0:0.0	.	943	P47989	XDH_HUMAN	Q	943	ENSP00000368727:R943Q	ENSP00000368727:R943Q	R	-	2	0	XDH	31426197	0.991000	0.36638	0.995000	0.50966	0.807000	0.45602	5.630000	0.67805	2.857000	0.98124	0.650000	0.86243	CGG		0.542	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1		NM_000379		4	54	0	0	0	0.014758	0	4	54		
DYNC2LI1	51626	broad.mit.edu	37	2	44036863	44036863	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44036863G>C	ENST00000260605.8	+	13	1113	c.1013G>C	c.(1012-1014)aGa>aCa	p.R338T	DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.R212T|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.R339T	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	338					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGTACAAAAGAAGTTCTTCC	0.284																																						uc002rtk.2		NaN																	0				ovary(1)	1						c.(1012-1014)AGA>ACA		dynein 2 light intermediate chain isoform 1							71.0	70.0	71.0					2																	44036863		2202	4294	6496	SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44036863G>C		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.1013G>C	2.37:g.44036863G>C	ENSP00000260605:p.Arg338Thr					DYNC2LI1_uc002rtl.2_Missense_Mutation_p.R339T|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.R212T	p.R338T	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN			13	1109	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	338					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.1013G>C	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156905	0.57259	.	.	ENSG00000138036	ENST00000260605;ENST00000443170	T;T	0.32272	1.46;1.46	5.11	0.993	0.19825	.	0.195161	0.53938	D	0.000047	T	0.39572	0.1083	M	0.72118	2.19	0.48632	D	0.999682	P;P	0.47034	0.889;0.822	P;P	0.52646	0.705;0.511	T	0.21690	-1.0238	10	0.72032	D	0.01	-14.8663	6.5198	0.22269	0.4781:0.0:0.5219:0.0	.	339;338	Q8TCX1-2;Q8TCX1	.;DC2L1_HUMAN	T	338;212	ENSP00000260605:R338T;ENSP00000388941:R212T	ENSP00000260605:R338T	R	+	2	0	DYNC2LI1	43890367	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.301000	0.33447	0.310000	0.22990	0.637000	0.83480	AGA		0.284	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2		NM_016008		5	22	0	0	0	0.058154	0	5	22		
DYNC2LI1	51626	broad.mit.edu	37	2	44036898	44036898	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44036898G>C	ENST00000260605.8	+	13	1148	c.1048G>C	c.(1048-1050)Gat>Cat	p.D350H	DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.D224H|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.D351H	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	350					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AATCGAGCTTGATTCTTGAAC	0.269																																						uc002rtk.2		NaN																	0				ovary(1)	1						c.(1048-1050)GAT>CAT		dynein 2 light intermediate chain isoform 1							72.0	69.0	70.0					2																	44036898		2202	4297	6499	SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44036898G>C		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.1048G>C	2.37:g.44036898G>C	ENSP00000260605:p.Asp350His					DYNC2LI1_uc002rtl.2_Missense_Mutation_p.D351H|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.D224H	p.D350H	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN			13	1144	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	350					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.1048G>C	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939276	0.73557	.	.	ENSG00000138036	ENST00000260605;ENST00000443170	T;T	0.49720	2.07;0.77	5.11	5.11	0.69529	.	0.221416	0.46442	D	0.000291	T	0.52996	0.1769	L	0.35414	1.06	0.48135	D	0.999594	D;P	0.54207	0.965;0.927	P;P	0.56434	0.798;0.554	T	0.55515	-0.8129	10	0.72032	D	0.01	-3.8503	15.5671	0.76303	0.0:0.0:1.0:0.0	.	351;350	Q8TCX1-2;Q8TCX1	.;DC2L1_HUMAN	H	350;224	ENSP00000260605:D350H;ENSP00000388941:D224H	ENSP00000260605:D350H	D	+	1	0	DYNC2LI1	43890402	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.801000	0.75170	2.642000	0.89623	0.637000	0.83480	GAT		0.269	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2		NM_016008		3	13	0	0	0	0.02938	0	3	13		
DYNC2LI1	51626	broad.mit.edu	37	2	44036905	44036905	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44036905G>A	ENST00000260605.8	+	13	1155	c.1055G>A	c.(1054-1056)tGa>tAa	p.*352*	DYNC2LI1_ENST00000443170.3_Silent_p.*226*|DYNC2LI1_ENST00000605786.1_Silent_p.*353*	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	0					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTTGATTCTTGAACCTATTTC	0.274																																						uc002rtk.2		NaN																	0				ovary(1)	1						c.(1054-1056)TGA>TAA		dynein 2 light intermediate chain isoform 1							69.0	65.0	66.0					2																	44036905		2201	4297	6498	SO:0001819	synonymous_variant	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44036905G>A		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.1055G>A	2.37:g.44036905G>A						DYNC2LI1_uc002rtl.2_Silent_p.*353*|DYNC2LI1_uc010ynz.1_Silent_p.*226*	p.*352*	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN			13	1151	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	352					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Silent	SNP	ENST00000260605.8	37	c.1055G>A	CCDS1813.1																																																																																				0.274	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2		NM_016008		4	13	0	0	0	0.02938	0	4	13		
ABCG5	64240	broad.mit.edu	37	2	44040419	44040419	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44040419G>A	ENST00000260645.1	-	13	1931	c.1792C>T	c.(1792-1794)Cca>Tca	p.P598S	ABCG5_ENST00000405322.1_Missense_Mutation_p.P427S|ABCG5_ENST00000543989.1_Missense_Mutation_p.P203S	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	598	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GCACACATTGGATTAGTTGTC	0.363																																						uc002rtn.2		NaN																	0				ovary(1)|skin(1)	2						c.(1792-1794)CCA>TCA		ATP-binding cassette sub-family G member 5							88.0	90.0	89.0					2																	44040419		2203	4300	6503	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44040419G>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1792C>T	2.37:g.44040419G>A	ENSP00000260645:p.Pro598Ser					ABCG5_uc002rtm.2_Missense_Mutation_p.P203S|ABCG5_uc002rto.2_Missense_Mutation_p.P427S|ABCG5_uc002rtp.2_Missense_Mutation_p.P203S	p.P598S	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			13	1932	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	598			Extracellular (Potential).|ABC transmembrane type-2.		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.1792C>T	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	G	2.989	-0.208694	0.06140	.	.	ENSG00000138075	ENST00000260645;ENST00000405322;ENST00000543989	D;T;T	0.90261	-2.64;2.37;2.37	4.79	3.9	0.45041	.	1.166140	0.06619	N	0.756986	D	0.86151	0.5864	L	0.54323	1.7	0.09310	N	1	B;B	0.22276	0.055;0.067	B;B	0.21917	0.016;0.037	T	0.70132	-0.4956	10	0.09338	T	0.73	.	5.1459	0.14985	0.0812:0.1471:0.6196:0.1521	.	427;598	E7EX35;Q9H222	.;ABCG5_HUMAN	S	598;427;203	ENSP00000260645:P598S;ENSP00000384513:P427S;ENSP00000445107:P203S	ENSP00000260645:P598S	P	-	1	0	ABCG5	43893923	0.585000	0.26774	0.481000	0.27354	0.135000	0.20990	0.791000	0.26915	1.205000	0.43262	0.655000	0.94253	CCA		0.363	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1		NM_022436		9	29	0	0	0	0.080935	0	9	29		
SPTBN1	6711	broad.mit.edu	37	2	54876994	54876994	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:54876994G>A	ENST00000356805.4	+	26	5726	c.5445G>A	c.(5443-5445)aaG>aaA	p.K1815K	SPTBN1_ENST00000333896.5_Silent_p.K1802K	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1815	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACGATGCCAAGGAGATCTTTG	0.493																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(5443-5445)AAG>AAA		spectrin, beta, non-erythrocytic 1 isoform 1							93.0	90.0	91.0					2																	54876994		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54876994G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5445G>A	2.37:g.54876994G>A						SPTBN1_uc002rxx.2_Silent_p.K1802K|SPTBN1_uc002rxy.2_5'Flank	p.K1815K	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		26	5694	+			1815			Interaction with ANK2.|Spectrin 15.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.5445G>A	CCDS33198.1																																																																																				0.493	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				11	51	0	0	0	0.080935	0	11	51		
RAB11FIP5	26056	broad.mit.edu	37	2	73315528	73315528	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:73315528C>G	ENST00000258098.6	-	3	1458	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	406					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.L406L(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCTGAGCACTCAGCTCCTCCT	0.657																																						uc002siu.3		NaN																	1	Substitution - coding silent(1)		cervix(1)		0						c.(1216-1218)CTG>CTC		RAB11 family interacting protein 5 (class I)							43.0	45.0	44.0					2																	73315528		2203	4300	6503	SO:0001819	synonymous_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315528C>G	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1218G>C	2.37:g.73315528C>G						RAB11FIP5_uc002sit.3_Silent_p.L328L	p.L406L	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			3	1459	-			406					O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.1218G>C	CCDS1923.1																																																																																				0.657	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1		NM_015470		14	53	0	0	0	0.028581	0	14	53		
VWA3B	200403	broad.mit.edu	37	2	98744726	98744726	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:98744726G>A	ENST00000477737.1	+	6	931	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	VWA3B_ENST00000451075.2_Missense_Mutation_p.V93M|VWA3B_ENST00000435344.1_Missense_Mutation_p.V243M	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	243										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTACTTTGTGGTGGGGGATGT	0.498																																						uc002syo.2		NaN																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(727-729)GTG>ATG		von Willebrand factor A domain containing 3B							211.0	210.0	210.0					2																	98744726		1927	4132	6059	SO:0001583	missense	200403							g.chr2:98744726G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.727G>A	2.37:g.98744726G>A	ENSP00000417955:p.Val243Met					VWA3B_uc010yvh.1_Missense_Mutation_p.V93M|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.V243M|VWA3B_uc002syn.1_RNA	p.V243M	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			6	991	+			243					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.727G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328225	0.81690	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.17528	3.16;3.16;2.27	5.33	5.33	0.75918	.	0.119783	0.37136	N	0.002226	T	0.41696	0.1170	M	0.65975	2.015	0.29215	N	0.874305	D;D;P	0.89917	0.997;1.0;0.923	D;D;P	0.77557	0.942;0.99;0.652	T	0.24764	-1.0151	10	0.48119	T	0.1	.	17.8198	0.88647	0.0:0.0:1.0:0.0	.	93;243;243	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	M	243;243;93	ENSP00000401959:V243M;ENSP00000417955:V243M;ENSP00000389463:V93M	ENSP00000411168:V243M	V	+	1	0	VWA3B	98111158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.012000	0.76366	2.495000	0.84180	0.655000	0.94253	GTG		0.498	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2		NM_144992		31	106	0	0	0	0.045705	0	31	106		
TUBA3E	112714	broad.mit.edu	37	2	130951802	130951802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:130951802C>T	ENST00000312988.7	-	4	713	c.613G>A	c.(613-615)Gac>Aac	p.D205N		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	205					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GCTTCATTGTCGACCATGAAG	0.552																																						uc002tqv.2		NaN																	0				skin(1)	1						c.(613-615)GAC>AAC		tubulin, alpha 3e							83.0	73.0	76.0					2																	130951802		2203	4294	6497	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951802C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.613G>A	2.37:g.130951802C>T	ENSP00000318197:p.Asp205Asn						p.D205N	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			4	714	-	Colorectal(110;0.1)		205						Missense_Mutation	SNP	ENST00000312988.7	37	c.613G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	11.39	1.625594	0.28889	.	.	ENSG00000152086	ENST00000312988	T	0.72282	-0.64	2.86	2.86	0.33363	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.51477	U	0.000081	D	0.89005	0.6592	H	0.98370	4.215	0.48288	D	0.999621	D	0.89917	1.0	D	0.97110	1.0	D	0.91691	0.5366	10	0.87932	D	0	.	11.5226	0.50560	0.0:1.0:0.0:0.0	.	205	Q6PEY2	TBA3E_HUMAN	N	205	ENSP00000318197:D205N	ENSP00000318197:D205N	D	-	1	0	TUBA3E	130668272	1.000000	0.71417	0.998000	0.56505	0.031000	0.12232	6.600000	0.74132	1.626000	0.50381	0.449000	0.29647	GAC		0.552	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1		NM_207312		9	62	0	0	0	0.09319	0	9	62		
Unknown	0	broad.mit.edu	37	2	132120876	132120876	+	IGR	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:132120876C>G								PLEKHB2 (9594 upstream) : AC073869.19 (39597 downstream)																							CTCTCTCCCTCCTCAATTGAC	0.438																																						uc002tsr.2		NaN																	0					0						c.(418-420)GAG>CAG		RAB6C-like							269.0	280.0	276.0					2																	132120876		2203	4300	6503	SO:0001628	intergenic_variant	150786				protein transport|small GTPase mediated signal transduction		GTP binding	g.chr2:132120876C>G																													2.37:g.132120876C>G							p.E140Q	NM_001077637	NP_001071105	Q53S08	Q53S08_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.078)	1	856	-			140						Missense_Mutation	SNP		37	c.418G>C																																																																																				0	0.438										9	231	0	0	0	0.058154	0	9	231		
TUBA3D	113457	broad.mit.edu	37	2	132237879	132237879	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:132237879G>A	ENST00000321253.6	+	4	720	c.613G>A	c.(613-615)Gac>Aac	p.D205N	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	205					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.D205N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTTCATGGTCGACAATGAAGC	0.557																																					Ovarian(137;2059 2432 35543 39401)	uc002tsu.3		NaN																	1	Substitution - Missense(1)		breast(1)		0						c.(613-615)GAC>AAC		tubulin, alpha 3d							35.0	46.0	42.0					2																	132237879		2193	4267	6460	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237879G>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.613G>A	2.37:g.132237879G>A	ENSP00000326042:p.Asp205Asn						p.D205N	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	720	+			205					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.613G>A	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	10.95	1.496250	0.26861	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.72282	-0.64	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.47852	U	0.000220	D	0.87625	0.6224	H	0.97540	4.025	0.46458	D	0.999055	D	0.76494	0.999	D	0.75020	0.985	D	0.89459	0.3735	10	0.87932	D	0	.	10.1507	0.42791	0.0:0.0:1.0:0.0	.	205	Q13748	TBA3C_HUMAN	N	205	ENSP00000326042:D205N	ENSP00000326042:D205N	D	+	1	0	TUBA3D	131954349	1.000000	0.71417	0.996000	0.52242	0.051000	0.14879	8.225000	0.89784	1.243000	0.43853	0.194000	0.17425	GAC		0.557	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2		NM_080386		8	130	0	0	0	0.055883	0	8	130		
SCN1A	6323	broad.mit.edu	37	2	166848189	166848189	+	Missense_Mutation	SNP	C	C	A	rs121918815		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:166848189C>A	ENST00000303395.4	-	26	5595	c.5596G>T	c.(5596-5598)Gat>Tat	p.D1866Y	SCN1A_ENST00000423058.2_Missense_Mutation_p.D1866Y|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1838Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1855Y|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1866			D -> Y (in GEFS+2; causes a positive shift in the voltage dependence of sodium channel fast inactivation; causes an increase in the magnitude of the persistent current and a delay in the kinetics of inactivation; dbSNP:rs121918815). {ECO:0000269|PubMed:15525788}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATAAGATATCAAGACAGTGG	0.483																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13	GRCh37	CM045197	SCN1A	M	rs121918815	c.(5563-5565)GAT>TAT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						83.0	79.0	81.0					2																	166848189		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848189C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5596G>T	2.37:g.166848189C>A	ENSP00000303540:p.Asp1866Tyr						p.D1855Y	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5581	-			1866					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5563G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494163	0.85069	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97279	-4.32;-4.32;-4.27;-4.25	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	D	0.98991	0.9656	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99293	1.0899	10	0.87932	D	0	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	1855	P35498-2	.	Y	1866;1866;1855;1838	ENSP00000407030:D1866Y;ENSP00000303540:D1866Y;ENSP00000364554:D1855Y;ENSP00000386312:D1838Y	ENSP00000303540:D1866Y	D	-	1	0	SCN1A	166556435	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.788000	0.95919	0.650000	0.86243	GAT		0.483	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		10	79	1	0	2.17888e-05	0.058154	2.3303e-05	10	79		
PHOSPHO2	493911	broad.mit.edu	37	2	170557854	170557854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:170557854C>T	ENST00000359744.3	+	4	761	c.373C>T	c.(373-375)Cca>Tca	p.P125S	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	125							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GTTTACAAATCCAGCAGCTTT	0.323																																						uc002ufg.2		NaN																	0				skin(1)	1						c.(373-375)CCA>TCA		phosphatase, orphan 2							57.0	57.0	57.0					2																	170557854		2203	4298	6501	SO:0001583	missense	493911						metal ion binding|pyridoxal phosphatase activity	g.chr2:170557854C>T	BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.373C>T	2.37:g.170557854C>T	ENSP00000352782:p.Pro125Ser					KLHL23_uc002ufh.1_Intron	p.P125S	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN			4	761	+			125					B2RC30|D3DPC7	Missense_Mutation	SNP	ENST00000359744.3	37	c.373C>T	CCDS33319.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536401	0.85812	.	.	ENSG00000144362	ENST00000359744;ENST00000438710	T;T	0.71341	-0.56;-0.56	5.81	5.81	0.92471	HAD-like domain (2);	0.000000	0.85682	U	0.000000	D	0.86522	0.5953	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86039	0.1518	10	0.46703	T	0.11	.	20.0584	0.97663	0.0:1.0:0.0:0.0	.	125	Q8TCD6	PHOP2_HUMAN	S	125	ENSP00000352782:P125S;ENSP00000411844:P125S	ENSP00000352782:P125S	P	+	1	0	PHOSPHO2	170266100	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.827000	0.75303	2.753000	0.94483	0.655000	0.94253	CCA		0.323	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333304.1		NM_001008489		6	34	0	0	0	0.02938	0	6	34		
GAD1	2571	broad.mit.edu	37	2	171710417	171710417	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:171710417G>C	ENST00000358196.3	+	14	1848	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	433					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						ATGTGTGCAGGATACCTCTTC	0.483																																						uc002ugi.2		NaN																	0				ovary(1)	1						c.(1297-1299)GGA>GCA		glutamate decarboxylase 1 isoform GAD67	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						158.0	143.0	148.0					2																	171710417		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171710417G>C		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1298G>C	2.37:g.171710417G>C	ENSP00000350928:p.Gly433Ala					GAD1_uc010fqc.2_Missense_Mutation_p.G52A	p.G433A	NM_000817	NP_000808	Q99259	DCE1_HUMAN			14	1720	+			433					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.1298G>C	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656044	0.47467	.	.	ENSG00000128683	ENST00000358196	T	0.36699	1.24	5.73	5.73	0.89815	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.047442	0.85682	D	0.000000	T	0.33118	0.0852	L	0.37800	1.135	0.80722	D	1	B	0.26120	0.142	B	0.23574	0.047	T	0.04065	-1.0980	10	0.26408	T	0.33	-12.407	20.2602	0.98440	0.0:0.0:1.0:0.0	.	433	Q99259	DCE1_HUMAN	A	433	ENSP00000350928:G433A	ENSP00000350928:G433A	G	+	2	0	GAD1	171418663	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.585000	0.82584	2.861000	0.98227	0.655000	0.94253	GGA		0.483	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2				6	120	0	0	0	0.038147	0	6	120		
TTN	7273	broad.mit.edu	37	2	179575377	179575377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:179575377G>A	ENST00000591111.1	-	96	27720	c.27496C>T	c.(27496-27498)Cag>Tag	p.Q9166*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.Q9483*|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q8239*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13293	Ig-like 74.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTCAGCTGAGCTGTGCAA	0.398																																						uc010zfg.1		NaN																	0				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.(24715-24717)CAG>TAG		titin isoform N2-A							147.0	141.0	143.0					2																	179575377		1887	4115	6002	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575377G>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.27496C>T	2.37:g.179575377G>A	ENSP00000465570:p.Gln9166*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q4900*	p.Q8239*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		95	24939	-			9166					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.24715C>T		.	.	.	.	.	.	.	.	.	.	G	60	40.302111	0.99985	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	.	.	.	X	8239	.	ENSP00000343764:Q8239X	Q	-	1	0	TTN	179283622	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.392000	0.52537	2.941000	0.99782	0.655000	0.94253	CAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		10	110	0	0	0	0.080935	0	10	110		
FRZB	2487	broad.mit.edu	37	2	183703267	183703267	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:183703267G>C	ENST00000295113.4	-	4	1276	c.667C>G	c.(667-669)Cta>Gta	p.L223V		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	223	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GAGGACTTTAGAATCTCCTTC	0.433																																						uc002upa.1		NaN																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(667-669)CTA>GTA		frizzled-related protein precursor							155.0	147.0	149.0					2																	183703267		2203	4300	6503	SO:0001583	missense	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183703267G>C	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.667C>G	2.37:g.183703267G>C	ENSP00000295113:p.Leu223Val						p.L223V	NM_001463	NP_001454	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		4	885	-			223			NTR.		O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	c.667C>G	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164913	0.57476	.	.	ENSG00000162998	ENST00000295113	T	0.34072	1.38	5.15	4.26	0.50523	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	M	0.65975	2.015	0.58432	D	0.999999	B	0.30361	0.277	B	0.42138	0.377	T	0.43523	-0.9386	10	0.46703	T	0.11	.	12.4201	0.55516	0.0831:0.0:0.9169:0.0	.	223	Q92765	SFRP3_HUMAN	V	223	ENSP00000295113:L223V	ENSP00000295113:L223V	L	-	1	2	FRZB	183411512	0.999000	0.42202	0.993000	0.49108	0.937000	0.57800	1.489000	0.35562	1.132000	0.42129	0.557000	0.71058	CTA		0.433	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1		NM_001463		21	99	0	0	0	0.069288	0	21	99		
COL5A2	1290	broad.mit.edu	37	2	189909924	189909924	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:189909924G>C	ENST00000374866.3	-	47	3618	c.3344C>G	c.(3343-3345)gCt>gGt	p.A1115G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1115					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACGTTTCCCAGCTCGACCAGG	0.299																																						uc002uqk.2		NaN																	0				ovary(2)	2						c.(3343-3345)GCT>GGT		alpha 2 type V collagen preproprotein							29.0	31.0	30.0					2																	189909924		2202	4299	6501	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189909924G>C	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3344C>G	2.37:g.189909924G>C	ENSP00000364000:p.Ala1115Gly					COL5A2_uc010frx.2_Missense_Mutation_p.A691G	p.A1115G	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		47	3619	-			1115					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.3344C>G	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551773	0.65311	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.93659	-3.26	5.74	4.87	0.63330	.	0.252940	0.27558	N	0.018826	D	0.92499	0.7618	L	0.33710	1.025	0.51767	D	0.999939	D;P	0.55605	0.972;0.926	P;P	0.56960	0.767;0.81	D	0.90935	0.4793	10	0.32370	T	0.25	.	12.3127	0.54938	0.0778:0.0:0.9222:0.0	.	755;1115	Q5PR22;P05997	.;CO5A2_HUMAN	G	1115;755	ENSP00000364000:A1115G	ENSP00000364000:A1115G	A	-	2	0	COL5A2	189618169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.386000	0.66238	1.433000	0.47394	0.655000	0.94253	GCT		0.299	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1		NM_000393		5	27	0	0	0	0.047766	0	5	27		
ORMDL1	94101	broad.mit.edu	37	2	190640311	190640311	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:190640311G>A	ENST00000325795.3	-	2	1092	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ORMDL1_ENST00000392349.4_Silent_p.F102F|ORMDL1_ENST00000496543.1_5'Flank|ORMDL1_ENST00000409519.1_Silent_p.F102F|ORMDL1_ENST00000392350.3_Silent_p.F102F			Q9P0S3	ORML1_HUMAN	ORMDL sphingolipid biosynthesis regulator 1	102					ceramide metabolic process (GO:0006672)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			GAGAAATTGTGAAAAACTTCC	0.383																																						uc002urb.3		NaN																	0					0						c.(304-306)TTC>TTT		ORM1-like 1							81.0	80.0	81.0					2																	190640311		2203	4300	6503	SO:0001819	synonymous_variant	94101				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		g.chr2:190640311G>A		CCDS2301.1	2q32	2014-06-16	2014-06-16		ENSG00000128699	ENSG00000128699			16036	protein-coding gene	gene with protein product		610073	"""ORM1 (S. cerevisiae)-like 1"", ""ORM1-like 1 (S. cerevisiae)"""			12093374, 23066021	Standard	NM_016467		Approved		uc002ure.4	Q9P0S3	OTTHUMG00000132661	ENST00000325795.3:c.306C>T	2.37:g.190640311G>A						ORMDL1_uc002urc.3_Silent_p.F102F|ORMDL1_uc002urd.3_Silent_p.F102F|ORMDL1_uc002ure.3_Silent_p.F102F|ORMDL1_uc002urf.3_Silent_p.F102F	p.F102F	NM_016467	NP_057551	Q9P0S3	ORML1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)		2	1093	-			102			Helical; (Potential).		B2R8W3|D3DPH9	Silent	SNP	ENST00000325795.3	37	c.306C>T	CCDS2301.1																																																																																				0.383	ORMDL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335275.1		NM_016467		4	34	0	0	0	0.014758	0	4	34		
SGOL2	151246	broad.mit.edu	37	2	201400832	201400832	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:201400832G>C	ENST00000357799.4	+	4	452	c.354G>C	c.(352-354)ttG>ttC	p.L118F	SGOL2_ENST00000409203.3_Missense_Mutation_p.L118F|SGOL2_ENST00000469840.1_3'UTR	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	118					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ACAATAACTTGATAACTGCAA	0.294																																						uc002uvw.2		NaN																	0				ovary(2)|skin(2)	4						c.(352-354)TTG>TTC		shugoshin-like 2 isoform 1							131.0	131.0	131.0					2																	201400832		1813	4058	5871	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201400832G>C	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.354G>C	2.37:g.201400832G>C	ENSP00000350447:p.Leu118Phe					SGOL2_uc002uvv.3_Missense_Mutation_p.L118F|SGOL2_uc010zhd.1_Missense_Mutation_p.L118F|SGOL2_uc010zhe.1_Missense_Mutation_p.L118F	p.L118F	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			4	467	+			118					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.354G>C	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216060	0.58452	.	.	ENSG00000163535	ENST00000357799;ENST00000409203	T;T	0.65178	-0.14;-0.14	5.34	3.48	0.39840	.	0.000000	0.43110	D	0.000604	T	0.70037	0.3178	M	0.66939	2.045	0.31308	N	0.687501	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.73380	0.98;0.98;0.98;0.974	T	0.70547	-0.4842	10	0.72032	D	0.01	-1.3662	2.0135	0.03493	0.172:0.1518:0.52:0.1561	.	118;118;118;118	B7Z7S9;Q562F6-2;Q562F6;Q562F6-3	.;.;SGOL2_HUMAN;.	F	118	ENSP00000350447:L118F;ENSP00000386249:L118F	ENSP00000350447:L118F	L	+	3	2	SGOL2	201109077	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	0.877000	0.28106	0.766000	0.33244	0.655000	0.94253	TTG		0.294	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1		NM_152524		8	82	0	0	0	0.038147	0	8	82		
GIGYF2	26058	broad.mit.edu	37	2	233655998	233655998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:233655998C>A	ENST00000409547.1	+	14	1435	c.1124C>A	c.(1123-1125)tCa>tAa	p.S375*	GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.S397*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.S375*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.S396*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.S369*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.S206*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.S397*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	375					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAGACCTCATCATCATCTGCT	0.428																																						uc002vti.3		NaN																	0				ovary(4)|central_nervous_system(3)	7						c.(1123-1125)TCA>TAA		GRB10 interacting GYF protein 2 isoform b							113.0	108.0	110.0					2																	233655998		2203	4300	6503	SO:0001587	stop_gained	26058				cell death		protein binding	g.chr2:233655998C>A	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1124C>A	2.37:g.233655998C>A	ENSP00000386537:p.Ser375*					GIGYF2_uc010zmj.1_Nonsense_Mutation_p.S375*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.S369*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.S396*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.S375*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.S369*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Nonsense_Mutation_p.S206*	p.S375*	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	14	1461	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	375					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	c.1124C>A	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901343	0.33535	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341;ENST00000427649;ENST00000410033	.	.	.	5.07	3.23	0.37069	.	0.825244	0.11380	N	0.569923	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0	11.8756	0.52546	0.0:0.8428:0.0:0.1572	.	.	.	.	X	397;318;375;397;375;375;318;369;396;369;206;127;157	.	ENSP00000362664:S375X	S	+	2	0	GIGYF2	233364242	0.019000	0.18553	0.000000	0.03702	0.010000	0.07245	2.146000	0.42216	0.175000	0.19841	-0.797000	0.03246	TCA		0.428	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2		NM_001103146		14	62	1	0	0.00074312	0.038395	0.000773851	14	62		
TBC1D20	128637	broad.mit.edu	37	20	422526	422526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:422526C>A	ENST00000354200.4	-	4	646	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	167	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				GATAATTTTTCTACCAGGGAT	0.537																																						uc002wds.2		NaN																	0				central_nervous_system(1)	1						c.(499-501)GAA>TAA		TBC1 domain family, member 20							107.0	95.0	99.0					20																	422526		2203	4300	6503	SO:0001587	stop_gained	128637				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity	g.chr20:422526C>A	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.499G>T	20.37:g.422526C>A	ENSP00000346139:p.Glu167*					TBC1D20_uc002wdv.2_5'UTR|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	p.E167*	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN			4	637	-		all_epithelial(17;0.228)|Breast(17;0.231)	167			Rab-GAP TBC.		A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Nonsense_Mutation	SNP	ENST00000354200.4	37	c.499G>T	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	C	40	8.436886	0.98810	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	.	.	.	5.88	5.88	0.94601	.	0.045497	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-12.6954	19.2161	0.93778	0.0:1.0:0.0:0.0	.	.	.	.	X	167;192	.	ENSP00000246077:E192X	E	-	1	0	TBC1D20	370526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.759000	0.68785	2.778000	0.95560	0.655000	0.94253	GAA		0.537	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2		NM_144628		6	92	1	0	1.33987e-11	0.069234	1.51487e-11	6	92		
SLC4A11	83959	broad.mit.edu	37	20	3211823	3211823	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:3211823G>T	ENST00000380056.3	-	8	1109	c.1062C>A	c.(1060-1062)ttC>ttA	p.F354L	SLC4A11_ENST00000539553.2_Missense_Mutation_p.F338L|SLC4A11_ENST00000380059.3_Missense_Mutation_p.F381L|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	354					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGTACAAGGGGAACCTGCGTG	0.602																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2		NaN																	0				ovary(1)	1						c.(1060-1062)TTC>TTA		solute carrier family 4 member 11							165.0	150.0	155.0					20																	3211823		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3211823G>T	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1062C>A	20.37:g.3211823G>T	ENSP00000369396:p.Phe354Leu					SLC4A11_uc010zqe.1_Missense_Mutation_p.F381L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.F338L	p.F354L	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			8	1110	-			354			Cytoplasmic (Potential).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.1062C>A	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	4.800	0.148747	0.09185	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.77098	-1.07;-1.07;-1.07	5.32	-0.676	0.11361	Bicarbonate transporter, C-terminal (1);	0.161507	0.46145	N	0.000318	T	0.44117	0.1278	N	0.03268	-0.37	0.38359	D	0.944546	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.12156	0.004;0.007;0.007	T	0.44236	-0.9341	10	0.02654	T	1	.	5.9148	0.19050	0.6289:0.1591:0.212:0.0	.	338;381;354	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	L	381;354;338	ENSP00000369399:F381L;ENSP00000369396:F354L;ENSP00000441370:F338L	ENSP00000369396:F354L	F	-	3	2	SLC4A11	3159823	0.994000	0.37717	0.349000	0.25694	0.749000	0.42624	0.409000	0.21082	0.026000	0.15269	0.563000	0.77884	TTC		0.602	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1				13	128	1	0	1.5739e-10	0.028581	1.77223e-10	13	128		
GGTLC1	92086	broad.mit.edu	37	20	23966391	23966391	+	Silent	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:23966391G>T	ENST00000335694.4	-	5	648	c.444C>A	c.(442-444)ggC>ggA	p.G148G	GGTLC1_ENST00000286890.4_Silent_p.G148G|GGTLC1_ENST00000278765.4_Silent_p.G148G	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	148					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TCACGTCATAGCCGAACCAGA	0.612																																						uc002wts.2		NaN																	0				ovary(1)	1						c.(442-444)GGC>GGA		gamma-glutamyltransferase light chain 1							81.0	84.0	83.0					20																	23966391		2203	4296	6499	SO:0001819	synonymous_variant	92086						gamma-glutamyltransferase activity	g.chr20:23966391G>T	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.444C>A	20.37:g.23966391G>T						GGTLC1_uc002wtu.2_Silent_p.G148G	p.G148G	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN			5	577	-			148					D3DW43|Q08246	Silent	SNP	ENST00000335694.4	37	c.444C>A	CCDS13163.1																																																																																				0.612	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2		NM_178311.2		55	129	1	0	4.45325e-31	0.048971	5.1613e-31	55	129		
TTLL9	164395	broad.mit.edu	37	20	30525290	30525290	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:30525290C>A	ENST00000375938.4	+	13	1349	c.1096C>A	c.(1096-1098)Cat>Aat	p.H366N	TTLL9_ENST00000310998.4_Missense_Mutation_p.H331N|TTLL9_ENST00000535842.1_Missense_Mutation_p.H366N|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000375922.4_Missense_Mutation_p.H308N			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	366	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGACACCCTGCATGTTGTGGA	0.572																																						uc010gdx.1		NaN																	0				ovary(2)	2						c.(1096-1098)CAT>AAT		tubulin tyrosine ligase-like family, member 9							69.0	74.0	72.0					20																	30525290		2108	4231	6339	SO:0001583	missense	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30525290C>A	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.1096C>A	20.37:g.30525290C>A	ENSP00000365105:p.His366Asn					TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.H268N|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	p.H366N	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		13	1349	+			366			TTL.		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	c.1096C>A	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	C	4.224	0.040522	0.08196	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375935;ENST00000375922	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	5.91	3.9	0.45041	.	0.102393	0.64402	N	0.000003	T	0.01454	0.0047	N	0.00500	-1.43	0.80722	D	1	B;B	0.16603	0.001;0.018	B;B	0.20577	0.01;0.03	T	0.44221	-0.9342	10	0.02654	T	1	.	12.4325	0.55581	0.3057:0.6943:0.0:0.0	.	366;268	Q3SXZ7;B1ANK8	TTLL9_HUMAN;.	N	366;366;331;355;308	ENSP00000365105:H366N;ENSP00000442515:H366N;ENSP00000308980:H331N;ENSP00000365088:H308N	ENSP00000308980:H331N	H	+	1	0	TTLL9	29988951	1.000000	0.71417	0.970000	0.41538	0.901000	0.52897	1.876000	0.39588	0.768000	0.33290	0.655000	0.94253	CAT		0.572	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001008409		11	40	1	0	5.50884e-06	0.09319	5.93754e-06	11	40		
MYH7B	57644	broad.mit.edu	37	20	33586326	33586326	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:33586326G>C	ENST00000262873.7	+	32	4105	c.4013G>C	c.(4012-4014)cGc>cCc	p.R1338P		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1296						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1338H(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGCTGAGTCGCCTGCTAGAG	0.642																																						uc002xbi.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(4012-4014)CGC>CCC		myosin, heavy polypeptide 7B, cardiac muscle,							40.0	46.0	44.0					20																	33586326		2100	4219	6319	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33586326G>C	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.4013G>C	20.37:g.33586326G>C	ENSP00000262873:p.Arg1338Pro						p.R1338P	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		32	4105	+			1296			Potential.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.4013G>C	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513978	0.85389	.	.	ENSG00000078814	ENST00000262873	D	0.81579	-1.51	4.73	4.73	0.59995	Myosin tail (1);	0.000000	0.38436	N	0.001681	D	0.93207	0.7836	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.95512	0.8587	10	0.87932	D	0	.	17.9019	0.88906	0.0:0.0:1.0:0.0	.	1296	A7E2Y1	MYH7B_HUMAN	P	1338	ENSP00000262873:R1338P	ENSP00000262873:R1338P	R	+	2	0	MYH7B	33049987	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.587000	0.98229	2.467000	0.83353	0.655000	0.94253	CGC		0.642	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2		NM_020884		4	43	0	0	0	0.014758	0	4	43		
BPI	671	broad.mit.edu	37	20	36959492	36959492	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:36959492G>A	ENST00000262865.4	+	12	1373	c.1284G>A	c.(1282-1284)ccG>ccA	p.P428P	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	428					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCCCCTTCCCGGTGAGTCTGA	0.572																																						uc002xib.2		NaN																	0				ovary(4)	4						c.(1282-1284)CCG>CCA		bactericidal/permeability-increasing protein							111.0	97.0	101.0					20																	36959492		2203	4300	6503	SO:0001630	splice_region_variant	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36959492G>A	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.1284+1G>A	20.37:g.36959492G>A							p.P428P	NM_001725	NP_001716	P17213	BPI_HUMAN			12	1346	+		Myeloproliferative disorder(115;0.00878)	428					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.1284G>A	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223879	0.22457	.	.	ENSG00000101425	ENST00000417318	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	T	0.62036	0.2395	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59348	-0.7471	4	.	.	.	-2.0664	11.775	0.51981	0.0:0.0:1.0:0.0	.	.	.	.	Q	254	.	.	R	+	2	0	BPI	36392906	0.964000	0.33143	0.970000	0.41538	0.494000	0.33585	1.540000	0.36115	2.482000	0.83794	0.655000	0.94253	CGG		0.572	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2		NM_001725	Silent	9	95	0	0	0	0.047766	0	9	95		
RALGAPB	57148	broad.mit.edu	37	20	37182516	37182516	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:37182516G>C	ENST00000262879.6	+	22	3453	c.3169G>C	c.(3169-3171)Gag>Cag	p.E1057Q	RALGAPB_ENST00000397040.1_Missense_Mutation_p.E1057Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E835Q|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E1053Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1057					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACAGTTAGAAGAGAGACACGA	0.328																																						uc002xiw.2		NaN																	0				pancreas(1)|skin(1)	2						c.(3169-3171)GAG>CAG		Ral GTPase activating protein, beta subunit							49.0	50.0	50.0					20																	37182516		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37182516G>C	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3169G>C	20.37:g.37182516G>C	ENSP00000262879:p.Glu1057Gln					RALGAPB_uc002xix.2_Missense_Mutation_p.E1053Q|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.E835Q	p.E1057Q	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			22	3426	+			1057					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.3169G>C	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006967	0.35415	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.97	5.97	0.96955	.	0.310331	0.37012	N	0.002285	T	0.42517	0.1206	N	0.08118	0	0.49483	D	0.999798	B;B	0.16603	0.018;0.018	B;B	0.23018	0.043;0.043	T	0.22977	-1.0201	9	0.25751	T	0.34	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	1053;1057	A2A2E9;Q86X10	.;RLGPB_HUMAN	Q	1057;1053;835;1057;885	.	ENSP00000262879:E1057Q	E	+	1	0	RALGAPB	36615930	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.429000	0.52800	2.834000	0.97654	0.650000	0.86243	GAG		0.328	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1		NM_020336		7	20	0	0	0	0.038147	0	7	20		
RALGAPB	57148	broad.mit.edu	37	20	37182716	37182716	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:37182716G>A	ENST00000262879.6	+	22	3653	c.3369G>A	c.(3367-3369)ctG>ctA	p.L1123L	RALGAPB_ENST00000397040.1_Silent_p.L1123L|RALGAPB_ENST00000397038.1_Silent_p.L901L|RALGAPB_ENST00000397042.3_Silent_p.L1119L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1123					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAGAAGCACTGAAGGTAATTT	0.383																																						uc002xiw.2		NaN																	0				pancreas(1)|skin(1)	2						c.(3367-3369)CTG>CTA		Ral GTPase activating protein, beta subunit							61.0	66.0	65.0					20																	37182716		2203	4300	6503	SO:0001819	synonymous_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37182716G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3369G>A	20.37:g.37182716G>A						RALGAPB_uc002xix.2_Silent_p.L1119L|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Silent_p.L901L	p.L1123L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			22	3626	+			1123					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	37	c.3369G>A	CCDS13305.1																																																																																				0.383	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1		NM_020336		25	69	0	0	0	0.041601	0	25	69		
RBPJL	11317	broad.mit.edu	37	20	43940280	43940280	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:43940280G>A	ENST00000343694.3	+	4	381	c.309G>A	c.(307-309)gtG>gtA	p.V103V	RBPJL_ENST00000372743.1_Silent_p.V103V|RBPJL_ENST00000372741.3_Silent_p.V103V	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	103					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCTGGAGGGTGAAGCCAGGGC	0.642											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xns.2		NaN																	0				ovary(1)	1						c.(307-309)GTG>GTA		recombining binding protein L							54.0	47.0	50.0					20																	43940280		2203	4300	6503	SO:0001819	synonymous_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43940280G>A	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.309G>A	20.37:g.43940280G>A			OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	RBPJL_uc002xnt.2_Silent_p.V103V	p.V103V	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN			4	381	+		Myeloproliferative disorder(115;0.0122)	103					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Silent	SNP	ENST00000343694.3	37	c.309G>A	CCDS13349.1																																																																																				0.642	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1		NM_014276		26	37	0	0	0	0.030593	0	26	37		
ADRM1	11047	broad.mit.edu	37	20	60878630	60878630	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:60878630G>A	ENST00000253003.2	+	2	52	c.6G>A	c.(4-6)acG>acA	p.T2T	RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	2	Interaction with PSMD1.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			TCAGGATGACGACCTCAGGCG	0.667																																						uc002ycn.2		NaN																	0					0						c.(4-6)ACG>ACA		adhesion regulating molecule 1 precursor							73.0	81.0	78.0					20																	60878630		2203	4300	6503	SO:0001819	synonymous_variant	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60878630G>A	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.6G>A	20.37:g.60878630G>A						ADRM1_uc011aai.1_Silent_p.T2T|ADRM1_uc002yco.2_Silent_p.T2T|ADRM1_uc002ycp.1_5'Flank	p.T2T	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		2	86	+	Breast(26;7.76e-09)		2			Interaction with PSMD1.		A0PKB1|Q96FJ7|Q9H1P2	Silent	SNP	ENST00000253003.2	37	c.6G>A	CCDS13496.1																																																																																				0.667	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1				9	108	0	0	0	0.058154	0	9	108		
TIAM1	7074	broad.mit.edu	37	21	32617837	32617837	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:32617837G>A	ENST00000286827.3	-	7	2022	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Silent_p.L517L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	517	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGGAATTGCTGAGGCAGAAGA	0.522																																						uc002yow.1		NaN																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(1549-1551)CTC>CTT		T-cell lymphoma invasion and metastasis 1							89.0	83.0	85.0					21																	32617837		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32617837G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1551C>T	21.37:g.32617837G>A						TIAM1_uc011adk.1_Silent_p.L517L|TIAM1_uc011adl.1_Silent_p.L517L|TIAM1_uc002yox.1_Silent_p.L125L	p.L517L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			7	2023	-			517			PH 1.		B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.1551C>T	CCDS13609.1																																																																																				0.522	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1		NM_003253		11	32	0	0	0	0.09319	0	11	32		
PCNT	5116	broad.mit.edu	37	21	47850003	47850003	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:47850003G>A	ENST00000359568.5	+	36	7877	c.7770G>A	c.(7768-7770)gaG>gaA	p.E2590E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2590					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAGAGCAAGAGAAGGCAAACA	0.512																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(7768-7770)GAG>GAA		pericentrin							111.0	103.0	106.0					21																	47850003		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47850003G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7770G>A	21.37:g.47850003G>A						PCNT_uc002zjj.2_Silent_p.E2472E	p.E2590E	NM_006031	NP_006022	O95613	PCNT_HUMAN			36	7877	+	Breast(49;0.112)		2590			Potential.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.7770G>A	CCDS33592.1																																																																																				0.512	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		11	37	0	0	0	0.09319	0	11	37		
PCNT	5116	broad.mit.edu	37	21	47851509	47851509	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:47851509G>A	ENST00000359568.5	+	38	8238	c.8131G>A	c.(8131-8133)Gag>Aag	p.E2711K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2711					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACTGAAACACGAGCAGACGGC	0.597																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(8131-8133)GAG>AAG		pericentrin							67.0	63.0	64.0					21																	47851509		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851509G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8131G>A	21.37:g.47851509G>A	ENSP00000352572:p.Glu2711Lys					PCNT_uc002zjj.2_Missense_Mutation_p.E2593K	p.E2711K	NM_006031	NP_006022	O95613	PCNT_HUMAN			38	8238	+	Breast(49;0.112)		2711			Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.8131G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796713	0.90453	.	.	ENSG00000160299	ENST00000359568	T	0.11712	2.75	5.32	5.32	0.75619	.	0.000000	0.34411	N	0.003981	T	0.33673	0.0871	M	0.66939	2.045	0.45852	D	0.998711	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.01706	-1.1291	10	0.66056	D	0.02	.	18.371	0.90407	0.0:0.0:1.0:0.0	.	2593;2711	O95613-2;O95613	.;PCNT_HUMAN	K	2711	ENSP00000352572:E2711K	ENSP00000352572:E2711K	E	+	1	0	PCNT	46675937	1.000000	0.71417	0.932000	0.37286	0.353000	0.29299	8.861000	0.92277	2.664000	0.90586	0.655000	0.94253	GAG		0.597	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		12	55	0	0	0	0.09319	0	12	55		
PCNT	5116	broad.mit.edu	37	21	47851760	47851760	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:47851760G>A	ENST00000359568.5	+	38	8489	c.8382G>A	c.(8380-8382)ctG>ctA	p.L2794L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2794					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCAGAAGCTGAAGGAGGAGA	0.612																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(8380-8382)CTG>CTA		pericentrin							46.0	47.0	47.0					21																	47851760		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851760G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8382G>A	21.37:g.47851760G>A						PCNT_uc002zjj.2_Silent_p.L2676L	p.L2794L	NM_006031	NP_006022	O95613	PCNT_HUMAN			38	8489	+	Breast(49;0.112)		2794			Potential.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.8382G>A	CCDS33592.1																																																																																				0.612	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		7	35	0	0	0	0.069234	0	7	35		
SLC25A1	6576	broad.mit.edu	37	22	19164697	19164697	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:19164697C>G	ENST00000215882.5	-	5	618	c.462G>C	c.(460-462)caG>caC	p.Q154H	CLTCL1_ENST00000442042.2_5'Flank|SLC25A1_ENST00000451283.1_Missense_Mutation_p.Q51H|SLC25A1_ENST00000461267.1_5'UTR	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	154					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|citrate transport (GO:0015746)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	citrate transmembrane transporter activity (GO:0015137)			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TTGGGGAGGTCTGGTCGTGGA	0.602																																						uc002zoz.2		NaN																	0					0						c.(460-462)CAG>CAC		solute carrier family 25 (mitochondrial carrier;							77.0	67.0	71.0					22																	19164697		2203	4300	6503	SO:0001583	missense	6576				gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding	g.chr22:19164697C>G	U25147	CCDS13758.1, CCDS74817.1	22q11	2013-05-22			ENSG00000100075	ENSG00000100075		"""Solute carriers"""	10979	protein-coding gene	gene with protein product		190315	"""solute carrier family 20 (mitochondrial citrate transporter), member 3"""	SLC20A3		8666394, 9254007	Standard	NM_001256534		Approved	CTP	uc002zoz.4	P53007	OTTHUMG00000150123	ENST00000215882.5:c.462G>C	22.37:g.19164697C>G	ENSP00000215882:p.Gln154His					SLC25A1_uc002zoy.2_Missense_Mutation_p.Q51H|SLC25A1_uc002zpa.2_Missense_Mutation_p.Q102H	p.Q154H	NM_005984	NP_005975	P53007	TXTP_HUMAN		Lung(27;0.124)	5	577	-	Colorectal(54;0.0993)	all_lung(157;9.94e-09)	154			Solcar 2.		A8K8E8|Q9BSK6	Missense_Mutation	SNP	ENST00000215882.5	37	c.462G>C	CCDS13758.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787407	0.70337	.	.	ENSG00000100075	ENST00000215882;ENST00000451283	T;T	0.79653	-1.29;-1.29	4.74	3.69	0.42338	Mitochondrial carrier domain (2);	0.272209	0.37809	N	0.001926	D	0.87220	0.6123	M	0.75085	2.285	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.977	D	0.86711	0.1936	10	0.48119	T	0.1	-22.7153	11.0144	0.47681	0.0:0.8519:0.0:0.1481	.	161;154	D9HTE9;P53007	.;TXTP_HUMAN	H	154;51	ENSP00000215882:Q154H;ENSP00000401480:Q51H	ENSP00000215882:Q154H	Q	-	3	2	SLC25A1	17544697	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	2.327000	0.43858	2.447000	0.82792	0.462000	0.41574	CAG		0.602	SLC25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316441.1		NM_005984		12	33	0	0	0	0.105934	0	12	33		
MTMR3	8897	broad.mit.edu	37	22	30403279	30403279	+	Missense_Mutation	SNP	A	A	G	rs138787389	byFrequency	TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:30403279A>G	ENST00000401950.2	+	10	1190	c.848A>G	c.(847-849)aAt>aGt	p.N283S	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.N147S|MTMR3_ENST00000406629.1_Missense_Mutation_p.N283S|MTMR3_ENST00000351488.3_Missense_Mutation_p.N283S|MTMR3_ENST00000333027.3_Missense_Mutation_p.N283S	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	283	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GACTTTCCCAATGGGGGAGAC	0.493													A|||	2	0.000399361	0.0008	0.0014	5008	,	,		20244	0.0		0.0	False		,,,				2504	0.0					uc003agv.3		NaN																	0				breast(3)|ovary(1)|skin(1)	5						c.(847-849)AAT>AGT		myotubularin-related protein 3 isoform c		A	SER/ASN,SER/ASN,SER/ASN	2,4404	4.2+/-10.8	0,2,2201	61.0	53.0	56.0		848,848,848	1.2	0.0	22	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	MTMR3	NM_021090.3,NM_153050.2,NM_153051.2	46,46,46	0,3,6500	GG,GA,AA		0.0116,0.0454,0.0231	benign,benign,benign	283/1199,283/1171,283/1162	30403279	3,13003	2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30403279A>G	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.848A>G	22.37:g.30403279A>G	ENSP00000384651:p.Asn283Ser					MTMR3_uc003agu.3_Missense_Mutation_p.N283S|MTMR3_uc003agw.3_Missense_Mutation_p.N283S	p.N283S	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		10	1176	+			283			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.848A>G	CCDS13870.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	13.80	2.344786	0.41498	4.54E-4	1.16E-4	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.93247	-2.99;-2.96;-3.19;-3.01;-2.96	5.72	1.17	0.20885	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.350015	0.34603	N	0.003827	D	0.90515	0.7028	M	0.71581	2.175	0.58432	D	0.999993	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.15052	0.012;0.009;0.012	T	0.82410	-0.0471	10	0.39692	T	0.17	.	8.7658	0.34702	0.6908:0.0:0.3092:0.0	.	283;283;283	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	S	283;283;147;283;283	ENSP00000384651:N283S;ENSP00000331649:N283S;ENSP00000318070:N147S;ENSP00000307271:N283S;ENSP00000384077:N283S	ENSP00000318070:N147S	N	+	2	0	MTMR3	28733279	0.966000	0.33281	0.045000	0.18777	0.996000	0.88848	2.469000	0.45110	-0.097000	0.12307	-0.256000	0.11100	AAT		0.493	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1		NM_021090		10	42	0	0	0	0.105934	0	10	42		
OSM	5008	broad.mit.edu	37	22	30659990	30659990	+	Missense_Mutation	SNP	T	T	C	rs150499755		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:30659990T>C	ENST00000215781.2	-	3	681	c.641A>G	c.(640-642)gAg>gGg	p.E214G	OSM_ENST00000403389.1_Missense_Mutation_p.E193G	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	214					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GTTCGGGCTCTCCCCCCACTT	0.642																																						uc003ahb.2		NaN																	0				skin(1)	1						c.(640-642)GAG>GGG		oncostatin M precursor							48.0	52.0	51.0					22																	30659990		2203	4300	6503	SO:0001583	missense	5008				cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	g.chr22:30659990T>C	AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.641A>G	22.37:g.30659990T>C	ENSP00000215781:p.Glu214Gly						p.E214G	NM_020530	NP_065391	P13725	ONCM_HUMAN	Epithelial(10;0.206)		3	693	-			214					Q6FHP8|Q9UCP6	Missense_Mutation	SNP	ENST00000215781.2	37	c.641A>G	CCDS13873.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.746211	0.30955	.	.	ENSG00000099985	ENST00000215781;ENST00000403389	T	0.50001	0.76	4.27	3.18	0.36537	.	1.724340	0.03474	N	0.214079	T	0.34948	0.0915	N	0.24115	0.695	0.09310	N	0.999999	B	0.30482	0.281	B	0.22152	0.038	T	0.28170	-1.0052	10	0.59425	D	0.04	-5.2684	7.1702	0.25715	0.0:0.0:0.2522:0.7478	.	214	P13725	ONCM_HUMAN	G	214;193	ENSP00000215781:E214G	ENSP00000215781:E214G	E	-	2	0	OSM	28989990	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-0.165000	0.09968	1.789000	0.52484	0.459000	0.35465	GAG		0.642	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1		NM_020530		4	66	0	0	0	0.009096	0	4	66		
BRD1	23774	broad.mit.edu	37	22	50192221	50192221	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:50192221G>A	ENST00000216267.8	-	4	2256	c.1770C>T	c.(1768-1770)ccC>ccT	p.P590P	BRD1_ENST00000342989.5_Silent_p.P185P|BRD1_ENST00000404034.1_Silent_p.P590P|BRD1_ENST00000542442.1_Splice_Site_p.P283P|BRD1_ENST00000404760.1_Silent_p.P590P|BRD1_ENST00000457780.2_Silent_p.P590P	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	590	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCAGACTCACGGGCTGCGCAA	0.622																																						uc003biv.2		NaN																	0				pancreas(1)	1						c.(1768-1770)CCC>CCT		bromodomain containing protein 1							86.0	74.0	78.0					22																	50192221		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50192221G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1770C>T	22.37:g.50192221G>A						BRD1_uc011arf.1_Silent_p.P185P|BRD1_uc011arg.1_Silent_p.P644P|BRD1_uc011arh.1_Silent_p.P590P|BRD1_uc003biu.3_Silent_p.P590P	p.P590P	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	4	2257	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	590			Bromo.		A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.1770C>T	CCDS14080.1																																																																																				0.622	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1		NM_014577		14	70	0	0	0	0.0333	0	14	70		
SETD5	55209	broad.mit.edu	37	3	9482170	9482170	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:9482170G>A	ENST00000406341.1	+	7	788	c.598G>A	c.(598-600)Gag>Aag	p.E200K	SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000407969.1_Missense_Mutation_p.E219K|SETD5_ENST00000402198.1_Missense_Mutation_p.E200K|SETD5_ENST00000402466.1_Missense_Mutation_p.E102K			Q9C0A6	SETD5_HUMAN	SET domain containing 5	200								p.E200K(1)|p.E102K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTAGATGAGAATACAAC	0.433																																						uc003brt.2		NaN																	2	Substitution - Missense(2)		prostate(2)	ovary(2)	2						c.(598-600)GAG>AAG		SET domain containing 5							55.0	52.0	53.0					3																	9482170		1827	4072	5899	SO:0001583	missense	55209							g.chr3:9482170G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.598G>A	3.37:g.9482170G>A	ENSP00000383939:p.Glu200Lys					SETD5_uc003brs.1_Missense_Mutation_p.E181K|SETD5_uc003bru.2_Missense_Mutation_p.E102K|SETD5_uc003brv.2_Missense_Mutation_p.E89K|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank	p.E200K	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	8	1033	+	Medulloblastoma(99;0.227)		200					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.598G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266424	0.95399	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.93019	-2.78;-3.15;-2.78;-2.76;0.77;-3.15	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95529	0.8547	L	0.47716	1.5	0.50313	D	0.999867	D;D;P	0.76494	0.999;0.997;0.892	D;D;P	0.77557	0.99;0.98;0.672	D	0.95657	0.8712	10	0.62326	D	0.03	-5.7115	19.1893	0.93658	0.0:0.0:1.0:0.0	.	102;200;219	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	K	200;102;200;219;89;102	ENSP00000385852:E200K;ENSP00000384429:E102K;ENSP00000383939:E200K;ENSP00000384114:E219K;ENSP00000408837:E89K;ENSP00000302028:E102K	ENSP00000302028:E102K	E	+	1	0	SETD5	9457170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.628000	0.89032	0.563000	0.77884	GAG		0.433	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1		XM_371614		7	18	0	0	0	0.02938	0	7	18		
WNT7A	7476	broad.mit.edu	37	3	13916516	13916516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:13916516G>A	ENST00000285018.4	-	2	530	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	76					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TTGCGGAACTGAAACTGACAC	0.617																																						uc003bye.1		NaN																	0				ovary(2)|breast(1)	3						c.(226-228)CAG>TAG		wingless-type MMTV integration site family,							61.0	53.0	56.0					3																	13916516		2203	4300	6503	SO:0001587	stop_gained	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13916516G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.226C>T	3.37:g.13916516G>A	ENSP00000285018:p.Gln76*						p.Q76*	NM_004625	NP_004616	O00755	WNT7A_HUMAN			2	531	-			76					Q96H90|Q9Y560	Nonsense_Mutation	SNP	ENST00000285018.4	37	c.226C>T	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	g	40	8.050735	0.98629	.	.	ENSG00000154764	ENST00000285018	.	.	.	5.31	5.31	0.75309	.	0.130731	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9939	0.92804	0.0:0.0:1.0:0.0	.	.	.	.	X	76	.	ENSP00000285018:Q76X	Q	-	1	0	WNT7A	13891517	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.765000	0.98953	2.481000	0.83766	0.651000	0.88453	CAG		0.617	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2		NM_004625		9	59	0	0	0	0.058154	0	9	59		
ZNF660	285349	broad.mit.edu	37	3	44636265	44636265	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:44636265G>C	ENST00000322734.2	+	3	913	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CAAATGTAAGGAGTGTGGGAA	0.393																																						uc003cnl.1		NaN																	0					0						c.(580-582)GAG>CAG		zinc finger protein 660							82.0	88.0	86.0					3																	44636265		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636265G>C	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.580G>C	3.37:g.44636265G>C	ENSP00000324605:p.Glu194Gln						p.E194Q	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	913	+			194			C2H2-type 6.		Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.580G>C	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519970	0.44866	.	.	ENSG00000144792	ENST00000322734	T	0.07444	3.19	4.35	3.46	0.39613	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08980	0.0222	N	0.11023	0.085	0.80722	D	1	D	0.71674	0.998	P	0.55087	0.768	T	0.43081	-0.9413	8	.	.	.	.	13.3413	0.60547	0.0:0.1606:0.8394:0.0	.	194	Q6AZW8	ZN660_HUMAN	Q	194	ENSP00000324605:E194Q	.	E	+	1	0	ZNF660	44611269	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.176000	0.09811	1.133000	0.42147	0.650000	0.86243	GAG		0.393	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4		NM_173658		14	56	0	0	0	0.020292	0	14	56		
TGM4	7047	broad.mit.edu	37	3	44943347	44943347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:44943347G>C	ENST00000296125.4	+	8	963	c.895G>C	c.(895-897)Gaa>Caa	p.E299Q	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	299					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TCACGACACAGAAAGGAACCT	0.542																																						uc003coc.3		NaN																	0				ovary(1)	1						c.(895-897)GAA>CAA		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						126.0	114.0	118.0					3																	44943347		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44943347G>C	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.895G>C	3.37:g.44943347G>C	ENSP00000296125:p.Glu299Gln						p.E299Q	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	8	968	+			299					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.895G>C	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301205	0.40694	.	.	ENSG00000163810	ENST00000296125	T	0.51817	0.69	2.68	2.68	0.31781	Transglutaminase-like (2);	0.303944	0.21680	U	0.070721	T	0.53449	0.1797	L	0.38692	1.165	0.09310	N	1	D	0.63046	0.992	D	0.65140	0.932	T	0.40572	-0.9556	10	0.72032	D	0.01	.	10.8234	0.46619	0.0:0.1945:0.8055:0.0	.	299	P49221	TGM4_HUMAN	Q	299	ENSP00000296125:E299Q	ENSP00000296125:E299Q	E	+	1	0	TGM4	44918351	0.026000	0.19158	0.001000	0.08648	0.001000	0.01503	1.711000	0.37930	1.426000	0.47256	0.563000	0.77884	GAA		0.542	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2		NM_003241		11	57	0	0	0	0.080935	0	11	57		
GMPPB	29925	broad.mit.edu	37	3	49756011	49756011	+	3'UTR	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:49756011C>T	ENST00000480687.1	-	0	4373				RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000535833.1_Silent_p.L296L|AMIGO3_ENST00000320431.7_Silent_p.L296L|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTAAAGCCTCAGGGACCGAC	0.652																																						uc003cxj.2		NaN																	0				pancreas(1)	1						c.(886-888)CTG>CTA		adhesion molecule with Ig-like domain 3							34.0	33.0	33.0					3																	49756011		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49756011C>T	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3174G>A	3.37:g.49756011C>T						RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	p.L296L	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1228	-			296			Extracellular (Potential).|Ig-like C2-type.		A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.888G>A	CCDS2803.1																																																																																				0.652	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1		NM_013334		5	22	0	0	0	0.014758	0	5	22		
GMPPB	29925	broad.mit.edu	37	3	49756493	49756494	+	3'UTR	DNP	CC	CC	TT			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:49756493_49756494CC>TT	ENST00000480687.1	-	0	3890_3891				RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000535833.1_Missense_Mutation_p.E136K|AMIGO3_ENST00000320431.7_Missense_Mutation_p.E136K|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000433785.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCAGCTTCTCCAGCGCCCCCA	0.634											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cxj.2		NaN																	0				pancreas(1)	1						c.(403-408)CTGGAG>CTAAAG		adhesion molecule with Ig-like domain 3																																				SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49756493_49756494CC>TT	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.1081_1081delinsTT	3.37:g.49756493_49756494delinsTT			OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	p.E136K	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	745_746	-			136			Extracellular (Potential).|LRR 4.		A8K6N5|Q9H7U3	Missense_Mutation	DNP	ENST00000480687.1	37	c.405_406GG>AA	CCDS2803.1																																																																																				0.634	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1		NM_013334		25	85	0	0	0	0.004672	0	25	85		
PROS1	5627	broad.mit.edu	37	3	93611862	93611862	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:93611862C>A	ENST00000394236.3	-	10	1386	c.1070G>T	c.(1069-1071)gGa>gTa	p.G357V	PROS1_ENST00000407433.1_Missense_Mutation_p.G226V	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	357	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		G -> R (in THPH5). {ECO:0000269|PubMed:15712227}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTCAATCTTTCCACCACGAAG	0.403																																						uc003drb.3		NaN																	0				large_intestine(1)	1						c.(1069-1071)GGA>GTA		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						118.0	108.0	111.0					3																	93611862		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93611862C>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1070G>T	3.37:g.93611862C>A	ENSP00000377783:p.Gly357Val					PROS1_uc010hoo.2_Missense_Mutation_p.G226V|PROS1_uc003dqz.3_Missense_Mutation_p.G226V	p.G357V	NM_000313	NP_000304	P07225	PROS_HUMAN			10	1411	-			357		G -> R (in PROS1D).	Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1070G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014520	0.54468	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.94723	-3.5;-3.5	4.47	4.47	0.54385	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98779	1.0731	10	0.87932	D	0	.	17.3232	0.87241	0.0:1.0:0.0:0.0	.	357	P07225	PROS_HUMAN	V	357;226	ENSP00000377783:G357V;ENSP00000385794:G226V	ENSP00000377783:G357V	G	-	2	0	PROS1	95094552	1.000000	0.71417	0.714000	0.30535	0.027000	0.11550	7.110000	0.77069	2.327000	0.79052	0.585000	0.79938	GGA		0.403	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1		NM_000313		7	66	1	0	0.00198382	0.02938	0.00205044	7	66		
CMSS1	84319	broad.mit.edu	37	3	99881261	99881261	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:99881261G>A	ENST00000421999.2	+	4	486	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CMSS1_ENST00000489081.1_Missense_Mutation_p.E96K	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	114							poly(A) RNA binding (GO:0044822)										TGAATTAGAAGAACTGAACCT	0.408																																						uc003dtl.2		NaN																	0				skin(1)	1						c.(340-342)GAA>AAA		hypothetical protein LOC84319							82.0	85.0	84.0					3																	99881261		2203	4300	6503	SO:0001583	missense	84319						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr3:99881261G>A		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.340G>A	3.37:g.99881261G>A	ENSP00000410396:p.Glu114Lys						p.E114K	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN			4	483	+			114					A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	ENST00000421999.2	37	c.340G>A	CCDS2935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.980118|4.980118	0.92982|0.92982	.|.	.|.	ENSG00000184220|ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909|ENST00000497345	T;T;T|.	0.30714|.	1.52;1.52;1.52|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.094093|.	0.64402|.	D|.	0.000001|.	T|T	0.74846|0.74846	0.3770|0.3770	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.75020|.	0.985|.	T|T	0.72174|0.72174	-0.4370|-0.4370	9|5	.|.	.|.	.|.	.|.	18.6822|18.6822	0.91549|0.91549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	114|.	Q9BQ75|.	CC026_HUMAN|.	K|K	114;96;70|22	ENSP00000410396:E114K;ENSP00000419161:E96K;ENSP00000417293:E70K|.	.|.	E|R	+|+	1|2	0|0	C3orf26|C3orf26	101363951|101363951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	7.309000|7.309000	0.78937|0.78937	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.408	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1		NM_032359		7	30	0	0	0	0.047766	0	7	30		
HHLA2	11148	broad.mit.edu	37	3	108076964	108076964	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:108076964C>G	ENST00000357759.5	+	6	1373	c.959C>G	c.(958-960)tCt>tGt	p.S320C	HHLA2_ENST00000491820.1_Missense_Mutation_p.S320C|HHLA2_ENST00000489514.2_Missense_Mutation_p.S320C|HHLA2_ENST00000467761.1_Missense_Mutation_p.S320C|HHLA2_ENST00000467562.1_Missense_Mutation_p.S256C	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	320	Ig-like V-type 2.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TGCAATATTTCTTCGGATGAA	0.378																																						uc003dwy.3		NaN																	0				ovary(1)	1						c.(958-960)TCT>TGT		HERV-H LTR-associating 2 precursor							88.0	85.0	86.0					3																	108076964		1848	4082	5930	SO:0001583	missense	11148					integral to membrane		g.chr3:108076964C>G	AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.959C>G	3.37:g.108076964C>G	ENSP00000350402:p.Ser320Cys					HHLA2_uc011bhl.1_Missense_Mutation_p.S256C|HHLA2_uc010hpu.2_Missense_Mutation_p.S320C|HHLA2_uc003dwz.2_Missense_Mutation_p.S320C	p.S320C	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN			6	1126	+			320			Ig-like V-type 2.		B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	ENST00000357759.5	37	c.959C>G	CCDS46883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.03|13.03	2.115217|2.115217	0.37339|0.37339	.|.	.|.	ENSG00000114455|ENSG00000114455	ENST00000482099|ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514	.|T;T;T;T;T	.|0.67345	.|-0.26;-0.26;-0.26;-0.26;-0.26	5.31|5.31	3.49|3.49	0.39957|0.39957	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.35151	.|N	.|0.003408	T|T	0.63224|0.63224	0.2493|0.2493	L|L	0.27053|0.27053	0.805|0.805	0.22266|0.22266	N|N	0.999249|0.999249	.|P;D;D	.|0.57257	.|0.943;0.979;0.979	.|P;P;P	.|0.56751	.|0.805;0.805;0.805	T|T	0.54957|0.54957	-0.8215|-0.8215	5|10	.|0.72032	.|D	.|0.01	-10.5193|-10.5193	7.5093|7.5093	0.27564|0.27564	0.0:0.7429:0.1672:0.0899|0.0:0.7429:0.1672:0.0899	.|.	.|256;320;320	.|B4DKN2;C9J7D0;Q9UM44	.|.;.;HHLA2_HUMAN	L|C	222|320;256;320;320;320	.|ENSP00000418284:S320C;ENSP00000418345:S256C;ENSP00000350402:S320C;ENSP00000419207:S320C;ENSP00000417856:S320C	.|ENSP00000350402:S320C	F|S	+|+	3|2	2|0	HHLA2|HHLA2	109559654|109559654	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.272000|0.272000	0.26649|0.26649	2.403000|2.403000	0.44530|0.44530	0.710000|0.710000	0.31997|0.31997	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.378	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1		NM_007072		3	63	0	0	0	0.004672	0	3	63		
CASR	846	broad.mit.edu	37	3	121980624	121980624	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:121980624G>A	ENST00000490131.1	+	4	1114	c.742G>A	c.(742-744)Gat>Aat	p.D248N	CASR_ENST00000296154.5_Missense_Mutation_p.D248N|CASR_ENST00000498619.1_Missense_Mutation_p.D248N	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	248					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAGTACTCTGATGAGGAAGA	0.502																																						uc003eev.3		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(742-744)GAT>AAT		calcium-sensing receptor precursor	Cinacalcet(DB01012)						152.0	163.0	159.0					3																	121980624		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980624G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.742G>A	3.37:g.121980624G>A	ENSP00000418685:p.Asp248Asn					CASR_uc003eew.3_Missense_Mutation_p.D248N	p.D248N	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1114	+			248			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.742G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	8.063	0.768508	0.15983	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.84442	-1.85;-1.85;-1.85	6.17	4.3	0.51218	Extracellular ligand-binding receptor (1);	0.320705	0.41396	D	0.000895	T	0.74283	0.3696	N	0.20574	0.59	0.45295	D	0.998292	P;B	0.35226	0.491;0.351	B;B	0.37780	0.258;0.197	T	0.69771	-0.5055	10	0.11182	T	0.66	.	12.7546	0.57328	0.0:0.1253:0.7443:0.1304	.	248;248	E7ENE0;P41180	.;CASR_HUMAN	N	248	ENSP00000418685:D248N;ENSP00000420194:D248N;ENSP00000296154:D248N	ENSP00000296154:D248N	D	+	1	0	CASR	123463314	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.699000	0.61796	1.585000	0.49928	0.655000	0.94253	GAT		0.502	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1		NM_000388		5	207	0	0	0	0.038147	0	5	207		
SEMA5B	54437	broad.mit.edu	37	3	122667459	122667459	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:122667459G>A	ENST00000357599.3	-	3	608	c.222C>T	c.(220-222)ctC>ctT	p.L74L	SEMA5B_ENST00000195173.4_Silent_p.L74L|SEMA5B_ENST00000451055.2_Silent_p.L128L|SEMA5B_ENST00000465147.1_5'UTR	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	74					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCAGCAGTGTGAGGCTGGGCA	0.647																																						uc003efz.1		NaN																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(220-222)CTC>CTT		semaphorin 5B isoform 1							50.0	47.0	48.0					3																	122667459		2203	4300	6503	SO:0001819	synonymous_variant	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122667459G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.222C>T	3.37:g.122667459G>A						SEMA5B_uc011bju.1_Silent_p.L16L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.L74L|SEMA5B_uc010hro.1_Silent_p.L16L|SEMA5B_uc010hrp.1_RNA	p.L74L	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	3	526	-			74			Extracellular (Potential).		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	c.222C>T	CCDS35491.1																																																																																				0.647	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1		NM_001031702		10	29	0	0	0	0.069234	0	10	29		
PLXND1	23129	broad.mit.edu	37	3	129290522	129290522	+	Silent	SNP	G	G	C	rs111780083		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:129290522G>C	ENST00000324093.4	-	16	3421	c.3243C>G	c.(3241-3243)gtC>gtG	p.V1081V	PLXND1_ENST00000393239.1_Silent_p.V1081V	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1081	IPT/TIG 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTCTCACCTGACAGGGCTGC	0.657																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NaN																	0				large_intestine(1)	1						c.(3241-3243)GTC>GTG		plexin D1 precursor							61.0	69.0	67.0					3																	129290522		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129290522G>C	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3243C>G	3.37:g.129290522G>C							p.V1081V	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			16	3343	-			1081			Extracellular (Potential).|IPT/TIG 3.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.3243C>G	CCDS33854.1																																																																																				0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4		NM_015103		19	95	0	0	0	0.076483	0	19	95		
DBR1	51163	broad.mit.edu	37	3	137888979	137888979	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:137888979C>G	ENST00000260803.4	-	4	612	c.459G>C	c.(457-459)gtG>gtC	p.V153V	DBR1_ENST00000463982.2_5'Flank|DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	153					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CAATATTTCTCACATGATATA	0.299																																						uc003erv.2		NaN																	0					0						c.(457-459)GTG>GTC		debranching enzyme homolog 1							68.0	78.0	75.0					3																	137888979		2203	4296	6499	SO:0001819	synonymous_variant	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137888979C>G	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.459G>C	3.37:g.137888979C>G						DBR1_uc003eru.2_Silent_p.V102V	p.V153V	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			4	595	-			153					Q96GH0|Q9NXQ6	Silent	SNP	ENST00000260803.4	37	c.459G>C	CCDS33863.1																																																																																				0.299	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1				12	77	0	0	0	0.09319	0	12	77		
YEATS2	55689	broad.mit.edu	37	3	183442274	183442274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:183442274C>T	ENST00000305135.5	+	6	800	c.605C>T	c.(604-606)tCa>tTa	p.S202L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	202					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)			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)			GATGAGACTTCACGACTTTTT	0.343																																						uc003fly.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(604-606)TCA>TTA		YEATS domain containing 2							94.0	91.0	92.0					3																	183442274		1844	4089	5933	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183442274C>T	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.605C>T	3.37:g.183442274C>T	ENSP00000306983:p.Ser202Leu						p.S202L	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)		6	800	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		202					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.605C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035015	0.93575	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.26957	1.7	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000005	T	0.37652	0.1011	L	0.55481	1.735	0.80722	D	1	D	0.55605	0.972	P	0.50136	0.632	T	0.27331	-1.0077	10	0.72032	D	0.01	-14.0952	18.3246	0.90250	0.0:1.0:0.0:0.0	.	202	Q9ULM3	YETS2_HUMAN	L	202	ENSP00000306983:S202L	ENSP00000306983:S202L	S	+	2	0	YEATS2	184924968	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.891000	0.69782	2.329000	0.79093	0.467000	0.42956	TCA		0.343	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2		NM_018023		6	39	0	0	0	0.021553	0	6	39		
MFSD10	10227	broad.mit.edu	37	4	2934873	2934873	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:2934873G>C	ENST00000329687.4	-	3	866	c.332C>G	c.(331-333)tCt>tGt	p.S111C	NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000355443.4_Missense_Mutation_p.S111C|MFSD10_ENST00000514800.1_Missense_Mutation_p.S111C|NOP14-AS1_ENST00000512712.2_RNA|MFSD10_ENST00000508221.1_Missense_Mutation_p.S111C|MFSD10_ENST00000507555.1_Missense_Mutation_p.S111C|NOP14-AS1_ENST00000505731.1_RNA	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	111					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAAGCAGTCAGAGGTGGCCCC	0.632																																						uc003gfw.2		NaN																	0					0						c.(331-333)TCT>TGT		major facilitator superfamily domain containing							46.0	47.0	47.0					4																	2934873		2200	4300	6500	SO:0001583	missense	10227				apoptosis	integral to membrane	tetracycline transporter activity	g.chr4:2934873G>C	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.332C>G	4.37:g.2934873G>C	ENSP00000332646:p.Ser111Cys					MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Missense_Mutation_p.S111C|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Missense_Mutation_p.S111C|MFSD10_uc003ggb.1_Missense_Mutation_p.S111C|MFSD10_uc003ggc.2_Missense_Mutation_p.S111C|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank	p.S111C	NM_001120	NP_001111	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	3	646	-			111					Q07706	Missense_Mutation	SNP	ENST00000329687.4	37	c.332C>G	CCDS3365.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991360	0.54041	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08	4.19	4.19	0.49359	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82522	0.5055	H	0.95539	3.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88410	0.3021	10	0.87932	D	0	-13.4298	15.4478	0.75243	0.0:0.0:1.0:0.0	.	111;111;111;111	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	C	111	ENSP00000426907:S111C;ENSP00000347619:S111C;ENSP00000332646:S111C;ENSP00000425757:S111C;ENSP00000423402:S111C	ENSP00000332646:S111C	S	-	2	0	MFSD10	2904671	1.000000	0.71417	0.290000	0.24890	0.168000	0.22595	8.622000	0.90953	2.175000	0.68902	0.561000	0.74099	TCT		0.632	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2		NM_001120		5	28	0	0	0	0.038147	0	5	28		
MFSD10	10227	broad.mit.edu	37	4	2934901	2934901	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:2934901G>A	ENST00000329687.4	-	3	838	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000355443.4_Silent_p.L102L|MFSD10_ENST00000514800.1_Silent_p.L102L|NOP14-AS1_ENST00000512712.2_RNA|MFSD10_ENST00000508221.1_Silent_p.L102L|MFSD10_ENST00000507555.1_Silent_p.L102L|NOP14-AS1_ENST00000505731.1_RNA	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	102					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCGCACACAGAAACTGCAGG	0.617																																						uc003gfw.2		NaN																	0					0						c.(304-306)CTG>TTG		major facilitator superfamily domain containing							53.0	53.0	53.0					4																	2934901		2202	4299	6501	SO:0001819	synonymous_variant	10227				apoptosis	integral to membrane	tetracycline transporter activity	g.chr4:2934901G>A	L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.304C>T	4.37:g.2934901G>A						MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Silent_p.L102L|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Silent_p.L102L|MFSD10_uc003ggb.1_Silent_p.L102L|MFSD10_uc003ggc.2_Silent_p.L102L|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank	p.L102L	NM_001120	NP_001111	Q14728	MFS10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	3	618	-			102			Helical; (Potential).		Q07706	Silent	SNP	ENST00000329687.4	37	c.304C>T	CCDS3365.1																																																																																				0.617	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2		NM_001120		3	31	0	0	0	0.009096	0	3	31		
SHISA3	152573	broad.mit.edu	37	4	42403249	42403249	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:42403249G>C	ENST00000319234.4	+	2	716	c.498G>C	c.(496-498)acG>acC	p.T166T		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	166					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GCACAGCCACGAGCTCCAGCT	0.672																																						uc003gwp.2		NaN																	0				ovary(1)|skin(1)	2						c.(496-498)ACG>ACC		shisa homolog 3 precursor							66.0	74.0	71.0					4																	42403249		2203	4300	6503	SO:0001819	synonymous_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403249G>C	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.498G>C	4.37:g.42403249G>C							p.T166T	NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN			2	716	+			166			Cytoplasmic (Potential).		A0PJX3|Q96EQ5	Silent	SNP	ENST00000319234.4	37	c.498G>C	CCDS33979.1																																																																																				0.672	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1		NM_001080505		16	116	0	0	0	0.028581	0	16	116		
FAT4	79633	broad.mit.edu	37	4	126237764	126237764	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:126237764G>C	ENST00000394329.3	+	1	211	c.198G>C	c.(196-198)acG>acC	p.T66T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	66	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCATCCAGACGCGCCCCGGCT	0.647											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(196-198)ACG>ACC		FAT tumor suppressor homolog 4 precursor							42.0	54.0	50.0					4																	126237764		2097	4206	6303	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126237764G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.198G>C	4.37:g.126237764G>C			OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.T66T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	198	+			66			Cadherin 1.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.198G>C	CCDS3732.3																																																																																				0.647	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		4	30	0	0	0	0.014758	0	4	30		
TAS2R1	50834	broad.mit.edu	37	5	9629539	9629539	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:9629539C>T	ENST00000382492.2	-	1	924	c.606G>A	c.(604-606)ggG>ggA	p.G202G	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	202					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGGTGTGCCTCCCCAGAGAGA	0.502																																						uc003jem.1		NaN																	0				ovary(3)	3						c.(604-606)GGG>GGA		taste receptor T2R1							49.0	57.0	54.0					5																	9629539		2203	4300	6503	SO:0001819	synonymous_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629539C>T	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.606G>A	5.37:g.9629539C>T							p.G202G	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	925	-			202			Cytoplasmic (Potential).		Q646G8	Silent	SNP	ENST00000382492.2	37	c.606G>A	CCDS3876.1																																																																																				0.502	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2				10	31	0	0	0	0.069234	0	10	31		
UGT3A2	167127	broad.mit.edu	37	5	36049133	36049133	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:36049133C>G	ENST00000282507.3	-	4	802	c.701G>C	c.(700-702)aGg>aCg	p.R234T	UGT3A2_ENST00000513300.1_Missense_Mutation_p.R200T|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	234					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAACTGGCCTAGAGCCTTC	0.418																																						uc003jjz.1		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(700-702)AGG>ACG		UDP glycosyltransferase 3 family, polypeptide A2							146.0	147.0	147.0					5																	36049133		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049133C>G		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.701G>C	5.37:g.36049133C>G	ENSP00000282507:p.Arg234Thr					UGT3A2_uc011cos.1_Missense_Mutation_p.R200T|UGT3A2_uc011cot.1_Intron	p.R234T	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	794	-	all_lung(31;0.000179)		234			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.701G>C	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789568	0.31685	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.61274	0.12;0.12	3.45	1.6	0.23607	.	0.165319	0.36932	N	0.002337	T	0.68054	0.2959	L	0.61218	1.895	0.80722	D	1	B;D	0.89917	0.073;1.0	B;D	0.71870	0.105;0.975	T	0.67534	-0.5646	10	0.66056	D	0.02	.	9.4676	0.38822	0.0:0.8219:0.0:0.1781	.	200;234	E9PFK7;Q3SY77	.;UD3A2_HUMAN	T	234;200	ENSP00000282507:R234T;ENSP00000427404:R200T	ENSP00000282507:R234T	R	-	2	0	UGT3A2	36084890	0.997000	0.39634	0.871000	0.34182	0.322000	0.28314	2.279000	0.43435	0.439000	0.26476	0.655000	0.94253	AGG		0.418	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2		NM_174914		22	83	0	0	0	0.0918	0	22	83		
UGT3A2	167127	broad.mit.edu	37	5	36049523	36049523	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:36049523C>T	ENST00000282507.3	-	4	413		c.e4-1		UGT3A2_ENST00000513300.1_Splice_Site|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2						cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATTTTCCTCTGTAAGAAAA	0.284																																						uc003jjz.1		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.e4-1		UDP glycosyltransferase 3 family, polypeptide A2							24.0	27.0	26.0					5																	36049523		2093	4247	6340	SO:0001630	splice_region_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049523C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.312-1G>A	5.37:g.36049523C>T						UGT3A2_uc011cos.1_Splice_Site_p.R70_splice|UGT3A2_uc011cot.1_Intron	p.R104_splice	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	405	-	all_lung(31;0.000179)							B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Splice_Site	SNP	ENST00000282507.3	37	c.312_splice	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640561	0.29157	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000515131	.	.	.	3.1	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.115	0.65146	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UGT3A2	36085280	0.793000	0.28825	0.052000	0.19188	0.023000	0.10783	2.376000	0.44292	2.044000	0.60594	0.655000	0.94253	.		0.284	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2		NM_174914	Intron	5	22	0	0	0	0.014758	0	5	22		
HCN1	348980	broad.mit.edu	37	5	45303768	45303768	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:45303768G>A	ENST00000303230.4	-	6	1608	c.1551C>T	c.(1549-1551)caC>caT	p.H517H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	517					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.H517H(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGCAACACCGTGTTGAATGA	0.388																																						uc003jok.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(1549-1551)CAC>CAT		hyperpolarization activated cyclic							105.0	102.0	103.0					5																	45303768		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45303768G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1551C>T	5.37:g.45303768G>A							p.H517H	NM_021072	NP_066550	O60741	HCN1_HUMAN			6	1576	-			517			cAMP.|Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.1551C>T	CCDS3952.1																																																																																				0.388	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1		NM_021072		7	69	0	0	0	0.02938	0	7	69		
ITGA2	3673	broad.mit.edu	37	5	52361774	52361774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:52361774C>T	ENST00000296585.5	+	15	2053	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	637					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACCGATGTGTCTATTGGTGCC	0.458																																						uc003joy.2		NaN																	0				lung(1)	1						c.(1909-1911)TCT>TTT		integrin alpha 2 precursor							158.0	147.0	151.0					5																	52361774		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52361774C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1910C>T	5.37:g.52361774C>T	ENSP00000296585:p.Ser637Phe					ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.S561F|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.S637F	NM_002203	NP_002194	P17301	ITA2_HUMAN			15	2053	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	637			FG-GAP 7.|Extracellular (Potential).		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.1910C>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671820	0.88348	.	.	ENSG00000164171	ENST00000296585	T	0.56444	0.46	5.31	5.31	0.75309	.	0.188870	0.47852	D	0.000206	T	0.65842	0.2730	M	0.66939	2.045	0.58432	D	0.999994	D;D	0.57899	0.968;0.981	P;P	0.54759	0.691;0.76	T	0.69844	-0.5035	10	0.72032	D	0.01	.	17.1708	0.86830	0.0:1.0:0.0:0.0	.	637;637	E7ESP4;P17301	.;ITA2_HUMAN	F	637	ENSP00000296585:S637F	ENSP00000296585:S637F	S	+	2	0	ITGA2	52397531	1.000000	0.71417	0.936000	0.37596	0.931000	0.56810	7.459000	0.80802	2.486000	0.83907	0.650000	0.86243	TCT		0.458	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2		NM_002203		21	91	0	0	0	0.108266	0	21	91		
APC	324	broad.mit.edu	37	5	112176224	112176224	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:112176224G>C	ENST00000457016.1	+	16	5313	c.4933G>C	c.(4933-4935)Gaa>Caa	p.E1645Q	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.E1645Q|APC_ENST00000508376.2_Missense_Mutation_p.E1645Q			P25054	APC_HUMAN	adenomatous polyposis coli	1645	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|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 apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1645Q(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTATTGTGTTGAAGGGACACC	0.453		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		3	Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	p.E1645Q(1)|p.K1192fs*3(1)|p.?(1)	urinary_tract(1)|soft_tissue(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(4933-4935)GAA>CAA		adenomatous polyposis coli							96.0	93.0	94.0					5																	112176224		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112176224G>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4933G>C	5.37:g.112176224G>C	ENSP00000413133:p.Glu1645Gln	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.E1627Q|APC_uc003kpz.3_Missense_Mutation_p.E1645Q|APC_uc003kpy.3_Missense_Mutation_p.E1645Q|APC_uc010jbz.2_Missense_Mutation_p.E1362Q|APC_uc010jca.2_Missense_Mutation_p.E945Q	p.E1645Q	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5313	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1645			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4933G>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334425	0.81801	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89196	-2.48;-2.48;-2.48	6.16	6.16	0.99307	.	0.042394	0.85682	D	0.000000	D	0.94407	0.8201	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92757	0.6221	9	.	.	.	-25.2197	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1647;1645	Q4LE70;P25054	.;APC_HUMAN	Q	1645	ENSP00000413133:E1645Q;ENSP00000257430:E1645Q;ENSP00000427089:E1645Q	.	E	+	1	0	APC	112204123	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	GAA		0.453	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		NM_000038		3	73	0	0	0	0.004672	0	3	73		
GRAMD3	65983	broad.mit.edu	37	5	125813438	125813438	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:125813438C>A	ENST00000285689.3	+	6	1002	c.541C>A	c.(541-543)Cta>Ata	p.L181I	GRAMD3_ENST00000511134.1_Missense_Mutation_p.L165I|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000543198.1_Missense_Mutation_p.L158I|GRAMD3_ENST00000502348.1_Missense_Mutation_p.L72I|GRAMD3_ENST00000542322.1_Missense_Mutation_p.L189I|GRAMD3_ENST00000544396.1_Missense_Mutation_p.L77I|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000515200.1_Missense_Mutation_p.L158I|GRAMD3_ENST00000513040.1_Missense_Mutation_p.L196I	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	181						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AACTGCTCTTCTAGTGCCAAA	0.478																																						uc003ktu.2		NaN																	0				central_nervous_system(1)	1						c.(541-543)CTA>ATA		GRAM domain containing 3 isoform 2							119.0	123.0	121.0					5																	125813438		2203	4300	6503	SO:0001583	missense	65983							g.chr5:125813438C>A	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.541C>A	5.37:g.125813438C>A	ENSP00000285689:p.Leu181Ile					GRAMD3_uc011cwt.1_Missense_Mutation_p.L196I|GRAMD3_uc011cwv.1_Missense_Mutation_p.L189I|GRAMD3_uc011cww.1_Missense_Mutation_p.L77I|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.L72I|GRAMD3_uc011cwz.1_Missense_Mutation_p.L165I|GRAMD3_uc011cwu.1_Missense_Mutation_p.L165I	p.L181I	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	6	971	+		Prostate(80;0.0928)	181					B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000285689.3	37	c.541C>A	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294856	0.81025	.	.	ENSG00000155324	ENST00000513040;ENST00000506445;ENST00000543367;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	T;T;T;T;T;T;T;T;T	0.36340	1.26;1.36;1.27;1.32;1.3;1.35;1.33;1.29;1.26	5.55	2.79	0.32731	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	M	0.71581	2.175	0.52501	D	0.999958	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;D;D	0.83275	0.996;0.973;0.982;0.994;0.996	T	0.53085	-0.8488	10	0.39692	T	0.17	.	11.1616	0.48518	0.0:0.7866:0.0:0.2134	.	165;77;189;196;181	B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.;.;.;.;GRAM3_HUMAN	I	196;195;165;181;158;189;77;158;72;165	ENSP00000426120:L196I;ENSP00000424985:L195I;ENSP00000285689:L181I;ENSP00000426143:L158I;ENSP00000441876:L189I;ENSP00000444049:L77I;ENSP00000442902:L158I;ENSP00000427596:L72I;ENSP00000426088:L165I	ENSP00000285689:L181I	L	+	1	2	GRAMD3	125841337	0.296000	0.24398	0.996000	0.52242	0.979000	0.70002	0.838000	0.27572	0.833000	0.34828	0.655000	0.94253	CTA		0.478	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2		NM_023927		21	68	1	0	3.28513e-13	0.0918	3.76025e-13	21	68		
GDF9	2661	broad.mit.edu	37	5	132198223	132198223	+	Silent	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:132198223T>C	ENST00000378673.2	-	3	1289	c.423A>G	c.(421-423)ctA>ctG	p.L141L	GDF9_ENST00000296875.2_Silent_p.L141L|GDF9_ENST00000464378.1_5'UTR			O60383	GDF9_HUMAN	growth differentiation factor 9	141					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGGTTAAATAGCAGTTCCA	0.383																																						uc003kxz.1		NaN																	0				skin(1)	1						c.(421-423)CTA>CTG		growth differentiation factor 9 precursor							56.0	58.0	58.0					5																	132198223		2201	4300	6501	SO:0001819	synonymous_variant	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132198223T>C		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.423A>G	5.37:g.132198223T>C						GDF9_uc011cxj.1_Silent_p.L53L	p.L141L	NM_005260	NP_005251	O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	675	-		all_cancers(142;0.105)|Breast(839;0.198)	141					Q4VAW5	Silent	SNP	ENST00000378673.2	37	c.423A>G	CCDS4162.1																																																																																				0.383	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2		NM_005260		11	29	0	0	0	0.069234	0	11	29		
SEC24A	10802	broad.mit.edu	37	5	134023941	134023941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:134023941C>T	ENST00000398844.2	+	11	1963	c.1675C>T	c.(1675-1677)Cag>Tag	p.Q559*	SEC24A_ENST00000322887.4_Nonsense_Mutation_p.Q559*	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	559					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTACGGTCTTCAGGAAAGTCT	0.313																																						uc003kzs.2		NaN																	0					0						c.(1675-1677)CAG>TAG		SEC24 related gene family, member A							109.0	101.0	104.0					5																	134023941		1816	4079	5895	SO:0001587	stop_gained	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134023941C>T	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1675C>T	5.37:g.134023941C>T	ENSP00000381823:p.Gln559*					SEC24A_uc011cxu.1_Nonsense_Mutation_p.Q323*	p.Q559*	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1963	+			559					A8MVW3|Q8WUV2|Q96GP7	Nonsense_Mutation	SNP	ENST00000398844.2	37	c.1675C>T	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601731	0.87055	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	.	.	.	5.78	5.78	0.91487	.	0.104169	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5705	20.0204	0.97499	0.0:1.0:0.0:0.0	.	.	.	.	X	559	.	ENSP00000321749:Q559X	Q	+	1	0	SEC24A	134051840	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.729000	0.93468	0.650000	0.86243	CAG		0.313	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1				13	41	0	0	0	0.024245	0	13	41		
PCDHA2	56146	broad.mit.edu	37	5	140175188	140175188	+	Silent	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:140175188G>T	ENST00000526136.1	+	1	639	c.639G>T	c.(637-639)gtG>gtT	p.V213V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.V213V|PCDHA2_ENST00000520672.2_Silent_p.V213V	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTACTGGTGGCTACTGATG	0.428																																						uc003lhd.2		NaN																	0				ovary(4)	4						c.(637-639)GTG>GTT		protocadherin alpha 2 isoform 1 precursor							85.0	95.0	92.0					5																	140175188		2201	4300	6501	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175188G>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.639G>T	5.37:g.140175188G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.V213V|PCDHA2_uc011czy.1_Silent_p.V213V	p.V213V	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	745	+			213			Extracellular (Potential).|Cadherin 2.		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.639G>T	CCDS54914.1																																																																																				0.428	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3		NM_018905		23	66	1	0	7.92952e-12	0.0918	9.00196e-12	23	66		
PCDHGA9	56107	broad.mit.edu	37	5	140782758	140782758	+	Missense_Mutation	SNP	G	G	T	rs368387997		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:140782758G>T	ENST00000573521.1	+	1	239	c.239G>T	c.(238-240)cGc>cTc	p.R80L	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGCAGCGGCACC	0.612																																						uc003lkh.1		NaN																	0					0						c.(238-240)CGC>CTC		protocadherin gamma subfamily A, 9 isoform 1							51.0	60.0	57.0					5																	140782758		2045	4227	6272	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140782758G>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.239G>T	5.37:g.140782758G>T	ENSP00000460274:p.Arg80Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.R80L	p.R80L	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	239	+			80			Cadherin 1.|Extracellular (Potential).		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.239G>T	CCDS58981.1																																																																																				0.612	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1		NM_018921		8	37	1	0	0.00307968	0.038147	0.00317127	8	37		
PCDHGA9	56107	broad.mit.edu	37	5	140782853	140782853	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:140782853G>C	ENST00000573521.1	+	1	334	c.334G>C	c.(334-336)Gac>Cac	p.D112H	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	112	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGTTGAAGACAGAGTGAA	0.507																																						uc003lkh.1		NaN																	0					0						c.(334-336)GAC>CAC		protocadherin gamma subfamily A, 9 isoform 1							66.0	70.0	69.0					5																	140782853		1942	4168	6110	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140782853G>C	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.334G>C	5.37:g.140782853G>C	ENSP00000460274:p.Asp112His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.D112H	p.D112H	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	334	+			112			Cadherin 1.|Extracellular (Potential).		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.334G>C	CCDS58981.1																																																																																				0.507	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1		NM_018921		18	59	0	0	0	0.049695	0	18	59		
SLIT3	6586	broad.mit.edu	37	5	168100246	168100246	+	Silent	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:168100246T>C	ENST00000519560.1	-	33	4196	c.3777A>G	c.(3775-3777)ccA>ccG	p.P1259P	SLIT3_ENST00000332966.8_Silent_p.P1266P|SLIT3_ENST00000404867.3_Silent_p.P1259P	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1259	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGCTCTTTGGAGTTCCTT	0.552																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NaN																	0				ovary(3)|skin(1)	4						c.(3775-3777)CCA>CCG		slit homolog 3 precursor							125.0	123.0	124.0					5																	168100246		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168100246T>C	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3777A>G	5.37:g.168100246T>C						SLIT3_uc010jjg.2_Silent_p.P1266P	p.P1259P	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		33	4197	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1259			Laminin G-like.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.3777A>G	CCDS4369.1																																																																																				0.552	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4		NM_003062		19	60	0	0	0	0.062417	0	19	60		
NSD1	64324	broad.mit.edu	37	5	176696618	176696618	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:176696618G>C	ENST00000439151.2	+	16	5364	c.5319G>C	c.(5317-5319)gaG>gaC	p.E1773D	NSD1_ENST00000347982.4_Missense_Mutation_p.E1504D|NSD1_ENST00000354179.4_Missense_Mutation_p.E1504D|NSD1_ENST00000361032.4_Missense_Mutation_p.E1670D	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1773	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCCAGCTGAGATCTGCCATC	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NaN		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(5317-5319)GAG>GAC		nuclear receptor binding SET domain protein 1							84.0	81.0	82.0					5																	176696618		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176696618G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5319G>C	5.37:g.176696618G>C	ENSP00000395929:p.Glu1773Asp	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.E1504D|NSD1_uc003mfs.1_Missense_Mutation_p.E1670D|NSD1_uc011dfx.1_Missense_Mutation_p.E1421D	p.E1773D	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	16	5457	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1773			PWWP 2.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.5319G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375949	0.82682	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.89	3.8	0.43715	PWWP (3);	0.000000	0.64402	D	0.000011	D	0.83459	0.5259	M	0.81942	2.565	0.40275	D	0.978331	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.77004	0.989;0.989;0.988	D	0.86737	0.1952	10	0.87932	D	0	.	13.6655	0.62393	0.1452:0.0:0.8548:0.0	.	1504;1670;1773	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	D	1504;1773;1504;1670	ENSP00000346111:E1504D;ENSP00000395929:E1773D;ENSP00000343209:E1504D;ENSP00000354310:E1670D	ENSP00000343209:E1504D	E	+	3	2	NSD1	176629224	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.452000	0.66638	1.501000	0.48654	0.585000	0.79938	GAG		0.433	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2		NM_172349		3	48	0	0	0	0.004672	0	3	48		
COL23A1	91522	broad.mit.edu	37	5	177690246	177690246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:177690246G>A	ENST00000390654.3	-	9	959	c.602C>T	c.(601-603)aCt>aTt	p.T201I	COL23A1_ENST00000407622.1_Missense_Mutation_p.T165I	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	201	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		ATCTTTCCCAGTGTCGCCAGG	0.647																																						uc003mje.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(601-603)ACT>ATT		collagen, type XXIII, alpha 1							35.0	37.0	36.0					5																	177690246		1893	4101	5994	SO:0001583	missense	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177690246G>A	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.602C>T	5.37:g.177690246G>A	ENSP00000375069:p.Thr201Ile					COL23A1_uc010jkt.2_Silent_p.L49L	p.T201I	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	9	960	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	201			Extracellular (Potential).|Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	c.602C>T	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362364	0.61403	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.93712	-3.27;-3.27	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000003	D	0.88869	0.6554	N	0.25286	0.73	0.45580	D	0.998522	B	0.22414	0.069	B	0.31290	0.127	D	0.86820	0.2004	10	0.62326	D	0.03	-5.3754	12.6778	0.56903	0.0:0.0:1.0:0.0	.	201	Q86Y22	CONA1_HUMAN	I	201;165	ENSP00000375069:T201I;ENSP00000385092:T165I	ENSP00000375069:T201I	T	-	2	0	COL23A1	177622852	1.000000	0.71417	0.998000	0.56505	0.713000	0.41058	8.047000	0.89440	2.061000	0.61500	0.313000	0.20887	ACT		0.647	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1		NM_173465		7	27	0	0	0	0.069234	0	7	27		
FOXF2	2295	broad.mit.edu	37	6	1390560	1390560	+	Silent	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:1390560C>A	ENST00000259806.1	+	1	492	c.378C>A	c.(376-378)atC>atA	p.I126I		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	126					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCAGCGAGATCTACCAGTTCC	0.647																																						uc003mtm.2		NaN																	0					0						c.(376-378)ATC>ATA		forkhead box F2							33.0	34.0	34.0					6																	1390560		2203	4300	6503	SO:0001819	synonymous_variant	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1390560C>A	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.378C>A	6.37:g.1390560C>A						FOXF2_uc003mtn.2_Silent_p.I126I	p.I126I	NM_001452	NP_001443	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	492	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	126			Fork-head.		Q5TGJ1|Q9UQ85	Silent	SNP	ENST00000259806.1	37	c.378C>A	CCDS4472.1																																																																																				0.647	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1				8	28	1	0	5.18039e-06	0.038147	5.60535e-06	8	28		
FOXF2	2295	broad.mit.edu	37	6	1390569	1390569	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:1390569C>A	ENST00000259806.1	+	1	501	c.387C>A	c.(385-387)ttC>ttA	p.F129L		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	129					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCTACCAGTTCCTGCAGGCGC	0.632																																						uc003mtm.2		NaN																	0					0						c.(385-387)TTC>TTA		forkhead box F2							33.0	35.0	34.0					6																	1390569		2203	4300	6503	SO:0001583	missense	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1390569C>A	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.387C>A	6.37:g.1390569C>A	ENSP00000259806:p.Phe129Leu					FOXF2_uc003mtn.2_Missense_Mutation_p.F129L	p.F129L	NM_001452	NP_001443	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	501	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	129			Fork-head.		Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	37	c.387C>A	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947692	0.92593	.	.	ENSG00000137273	ENST00000259806	D	0.95690	-3.78	4.01	4.01	0.46588	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.068053	0.64402	D	0.000016	D	0.97037	0.9032	M	0.85945	2.785	0.80722	D	1	D	0.60160	0.987	P	0.62089	0.898	D	0.97740	1.0208	10	0.87932	D	0	.	14.7534	0.69546	0.0:1.0:0.0:0.0	.	129	Q12947	FOXF2_HUMAN	L	129	ENSP00000259806:F129L	ENSP00000259806:F129L	F	+	3	2	FOXF2	1335568	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.906000	0.48735	1.789000	0.52484	0.442000	0.29010	TTC		0.632	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1				6	29	1	0	3.59834e-05	0.021553	3.81892e-05	6	29		
MAK	4117	broad.mit.edu	37	6	10796367	10796367	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:10796367T>G	ENST00000313243.2	-	9	1389	c.1007A>C	c.(1006-1008)cAg>cCg	p.Q336P	RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000536370.1_3'UTR|MAK_ENST00000354489.2_Missense_Mutation_p.Q336P|MAK_ENST00000474039.1_Missense_Mutation_p.Q336P|MAK_ENST00000538030.1_Missense_Mutation_p.Q336P|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	336	Glu/Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGTTTTTGGCTGGGGTTGTCC	0.502																																						uc003mzl.2		NaN																	0				breast(2)|skin(1)	3						c.(1006-1008)CAG>CCG		male germ cell-associated kinase							121.0	130.0	127.0					6																	10796367		2203	4300	6503	SO:0001583	missense	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10796367T>G		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1007A>C	6.37:g.10796367T>G	ENSP00000313021:p.Gln336Pro					SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.Q336P|MAK_uc010jov.1_RNA	p.Q336P	NM_005906	NP_005897	P20794	MAK_HUMAN			8	1236	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	336			Glu/Pro-rich.		F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	c.1007A>C	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314826	0.40996	.	.	ENSG00000111837	ENST00000313243;ENST00000354489;ENST00000538030	T;T;T	0.73681	-0.77;-0.77;-0.73	4.96	3.75	0.43078	.	0.731374	0.13557	N	0.379069	T	0.40297	0.1111	N	0.20986	0.625	0.26110	N	0.980692	P	0.40398	0.716	B	0.38803	0.282	T	0.15235	-1.0444	10	0.42905	T	0.14	.	6.7863	0.23675	0.1877:0.0:0.1279:0.6844	.	336	P20794	MAK_HUMAN	P	336	ENSP00000313021:Q336P;ENSP00000346484:Q336P;ENSP00000442250:Q336P	ENSP00000313021:Q336P	Q	-	2	0	MAK	10904353	0.547000	0.26465	0.095000	0.20976	0.055000	0.15305	0.826000	0.27407	0.802000	0.34089	0.368000	0.22195	CAG		0.502	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1		NM_005906		9	77	0	0	0	0.047766	0	9	77		
BTN3A3	10384	broad.mit.edu	37	6	26443857	26443857	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:26443857T>C	ENST00000244519.2	+	3	298	c.55T>C	c.(55-57)Ttc>Ctc	p.F19L	BTN3A3_ENST00000361232.3_Intron|BTN3A3_ENST00000339789.4_Intron	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	19					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGTCTCCCTCTTCTTGGTCCA	0.428																																						uc003nhz.2		NaN																	0					0						c.(55-57)TTC>CTC		butyrophilin, subfamily 3, member A3 isoform a							300.0	241.0	261.0					6																	26443857		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26443857T>C	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.55T>C	6.37:g.26443857T>C	ENSP00000244519:p.Phe19Leu					BTN3A3_uc003nia.2_Intron|BTN3A3_uc011dkn.1_Intron	p.F19L	NM_006994	NP_008925	O00478	BT3A3_HUMAN			3	235	+			19					B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.55T>C	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.586468	0.00128	.	.	ENSG00000111801	ENST00000494393;ENST00000482451;ENST00000244519;ENST00000496719	T;T;T;T	0.33438	3.42;3.31;1.41;4.04	1.88	-3.77	0.04346	.	.	.	.	.	T	0.01029	0.0034	N	0.00462	-1.47	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50171	-0.8859	9	0.02654	T	1	.	1.4976	0.02470	0.2396:0.3793:0.2424:0.1386	.	19	O00478	BT3A3_HUMAN	L	19	ENSP00000417234:F19L;ENSP00000419312:F19L;ENSP00000244519:F19L;ENSP00000420147:F19L	ENSP00000244519:F19L	F	+	1	0	BTN3A3	26551836	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-4.354000	0.00247	-3.030000	0.00266	-0.718000	0.03613	TTC		0.428	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2		NM_006994		5	52	0	0	0	0.021553	0	5	52		
OR14J1	442191	broad.mit.edu	37	6	29274561	29274561	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:29274561C>T	ENST00000377160.2	+	1	159	c.95C>T	c.(94-96)aCa>aTa	p.T32I		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTTCTGGTGACATACCTGCTG	0.438																																						uc011dln.1		NaN																	0				ovary(1)	1						c.(94-96)ACA>ATA		olfactory receptor, family 5, subfamily U member							201.0	177.0	186.0					6																	29274561		1511	2709	4220	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29274561C>T		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.95C>T	6.37:g.29274561C>T	ENSP00000366365:p.Thr32Ile						p.T32I	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			1	95	+			32			Helical; Name=1; (Potential).		A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.95C>T	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	C	0.177	-1.065714	0.01934	.	.	ENSG00000204695	ENST00000377160	T	0.00421	7.46	4.87	-4.4	0.03600	.	0.719805	0.11687	N	0.539262	T	0.00039	0.0001	N	0.00419	-1.52	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.19321	-1.0309	10	0.02654	T	1	.	15.7341	0.77827	0.0:0.2187:0.0:0.7813	.	32	Q9UGF5	O14J1_HUMAN	I	32	ENSP00000366365:T32I	ENSP00000366365:T32I	T	+	2	0	OR14J1	29382540	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.854000	0.04299	-1.196000	0.02676	-0.150000	0.13652	ACA		0.438	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2				12	71	0	0	0	0.020292	0	12	71		
NELFE	7936	broad.mit.edu	37	6	31922347	31922347	+	Missense_Mutation	SNP	C	C	G	rs139983860|rs373389786		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:31922347C>G	ENST00000375429.3	-	7	953	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	NELFE_ENST00000444811.2_Missense_Mutation_p.E213Q|NELFE_ENST00000375425.5_Missense_Mutation_p.E250Q|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	243	30 X 2 AA approximate tandem repeats of R-[DSNE].				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AAAGGACCCtctcggtctcgg	0.562																																						uc003nyk.2		NaN																	0					0						c.(727-729)GAG>CAG		RD RNA-binding protein							55.0	65.0	61.0					6																	31922347		2203	4300	6503	SO:0001583	missense	7936				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr6:31922347C>G	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.727G>C	6.37:g.31922347C>G	ENSP00000364578:p.Glu243Gln					RDBP_uc011dot.1_Missense_Mutation_p.E213Q|RDBP_uc003nyl.1_Missense_Mutation_p.E183Q|RDBP_uc003nym.1_Missense_Mutation_p.E238Q	p.E243Q	NM_002904	NP_002895	P18615	NELFE_HUMAN			7	931	-			243			30 X 2 AA approximate tandem repeats of R-[DSNE].|30.		A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.727G>C	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524815	0.64747	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.08	5.08	0.68730	Nucleotide-binding, alpha-beta plait (1);	0.122356	0.53938	D	0.000060	T	0.33990	0.0882	L	0.40543	1.245	0.54753	D	0.999986	P;P;P;P	0.47762	0.759;0.9;0.9;0.9	B;B;B;B	0.42214	0.188;0.38;0.289;0.289	T	0.09574	-1.0668	10	0.26408	T	0.33	-18.5644	17.2402	0.87011	0.0:1.0:0.0:0.0	.	213;238;238;243	B4DUN1;A2ABK1;E9PCL7;P18615	.;.;.;NELFE_HUMAN	Q	243;250;213;238;243;238	ENSP00000364578:E243Q;ENSP00000364574:E250Q;ENSP00000388400:E213Q;ENSP00000397914:E238Q;ENSP00000409389:E243Q;ENSP00000414029:E238Q	ENSP00000364574:E250Q	E	-	1	0	RDBP	32030326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.413000	0.52686	2.378000	0.81104	0.655000	0.94253	GAG		0.562	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4				10	50	0	0	0	0.058154	0	10	50		
NELFE	7936	broad.mit.edu	37	6	31922614	31922614	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:31922614C>G	ENST00000375429.3	-	7	686	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	NELFE_ENST00000444811.2_Intron|NELFE_ENST00000375425.5_Missense_Mutation_p.E161Q|MIR1236_ENST00000408340.1_RNA	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	154					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCTGGGCCCTCTGCCTCTTCT	0.577																																						uc003nyk.2		NaN																	0					0						c.(460-462)GAG>CAG		RD RNA-binding protein							73.0	81.0	78.0					6																	31922614		2203	4300	6503	SO:0001583	missense	7936				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr6:31922614C>G	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.460G>C	6.37:g.31922614C>G	ENSP00000364578:p.Glu154Gln					RDBP_uc011dot.1_Intron|RDBP_uc003nyl.1_Missense_Mutation_p.E94Q|RDBP_uc003nym.1_Missense_Mutation_p.E149Q	p.E154Q	NM_002904	NP_002895	P18615	NELFE_HUMAN			7	664	-			154					A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.460G>C	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067009	0.36470	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000441998;ENST00000454913;ENST00000436289;ENST00000426722	T;T;T;T	0.47177	0.91;0.91;0.85;0.85	5.68	5.68	0.88126	.	0.000000	0.49305	D	0.000150	T	0.19604	0.0471	N	0.14661	0.345	0.80722	D	1	B;B;B	0.27498	0.18;0.18;0.079	B;B;B	0.32533	0.147;0.065;0.032	T	0.07986	-1.0744	10	0.30078	T	0.28	-30.1549	12.9793	0.58554	0.0:0.8379:0.1621:0.0	.	149;149;154	A2ABK1;E9PCL7;P18615	.;.;NELFE_HUMAN	Q	154;161;149;154;149;154	ENSP00000364578:E154Q;ENSP00000364574:E161Q;ENSP00000397914:E149Q;ENSP00000414029:E149Q	ENSP00000364574:E161Q	E	-	1	0	RDBP	32030593	0.992000	0.36948	1.000000	0.80357	0.854000	0.48673	5.864000	0.69575	2.689000	0.91719	0.655000	0.94253	GAG		0.577	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4				22	133	0	0	0	0.041601	0	22	133		
TNXB	7148	broad.mit.edu	37	6	32015617	32015617	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:32015617C>T	ENST00000375244.3	-	30	10419	c.10218G>A	c.(10216-10218)cgG>cgA	p.R3406R	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Silent_p.R3404R			P22105	TENX_HUMAN	tenascin XB	3451	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTGACCTCCCGCTGGTTGG	0.602																																						uc003nzl.2		NaN																	0					0						c.(10210-10212)CGG>CGA		tenascin XB isoform 1 precursor							28.0	35.0	32.0					6																	32015617		1410	2637	4047	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32015617C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10218G>A	6.37:g.32015617C>T						TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	p.R3404R	NM_019105	NP_061978	P22105	TENX_HUMAN			30	10414	-			3451			Fibronectin type-III 26.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.10212G>A																																																																																					0.602	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		4	15	0	0	0	0.009096	0	4	15		
TAPBP	6892	broad.mit.edu	37	6	33271748	33271748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:33271748C>T	ENST00000489157.1	-	6	1270	c.1058G>A	c.(1057-1059)tGc>tAc	p.C353Y	TAPBP_ENST00000434618.2_Missense_Mutation_p.C440Y|TAPBP_ENST00000426633.2_Missense_Mutation_p.C440Y|TAPBP_ENST00000456592.2_Missense_Mutation_p.C440Y|TAPBP_ENST00000475304.1_Missense_Mutation_p.C458Y			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	440	Ig-like C1-type.				amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TGAATCCTTGCAGGTGGACAG	0.532																																						uc003odx.1		NaN																	0				ovary(1)	1						c.(1318-1320)TGC>TAC		tapasin isoform 1 precursor							125.0	109.0	115.0					6																	33271748		2203	4300	6503	SO:0001583	missense	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33271748C>T	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.1058G>A	6.37:g.33271748C>T	ENSP00000419659:p.Cys353Tyr					TAPBP_uc010jus.1_Missense_Mutation_p.C458Y|TAPBP_uc003ody.2_3'UTR|TAPBP_uc003odz.2_Missense_Mutation_p.C440Y|TAPBP_uc010jut.1_Missense_Mutation_p.C353Y	p.C440Y	NM_003190	NP_003181	O15533	TPSN_HUMAN			7	1490	-			440			Cytoplasmic (Potential).		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	ENST00000489157.1	37	c.1319G>A	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	C	2.166	-0.390938	0.04932	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592	T;T;T;T;T	0.31510	1.55;1.55;1.55;1.49;1.55	3.66	-0.34	0.12643	.	2.777100	0.01172	N	0.006891	T	0.04815	0.0130	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.23540	0.049;0.087;0.0;0.049	B;B;B;B	0.17098	0.011;0.017;0.001;0.011	T	0.08953	-1.0697	10	0.02654	T	1	3.327	6.294	0.21075	0.0:0.223:0.5074:0.2696	.	353;458;440;440	E9PGM2;A2AB90;O15533-3;O15533	.;.;.;TPSN_HUMAN	Y	440;458;353;440;440	ENSP00000395701:C440Y;ENSP00000417949:C458Y;ENSP00000419659:C353Y;ENSP00000404833:C440Y;ENSP00000387803:C440Y	ENSP00000404833:C440Y	C	-	2	0	TAPBP	33379726	0.000000	0.05858	0.000000	0.03702	0.862000	0.49288	-0.429000	0.06982	-0.075000	0.12798	-0.311000	0.09066	TGC		0.532	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2				14	83	0	0	0	0.028581	0	14	83		
FANCE	2178	broad.mit.edu	37	6	35426107	35426107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:35426107C>T	ENST00000229769.2	+	5	1188	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	335	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GCAGCTCCCTCAGCTCTCAGA	0.602			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003oko.1		NaN	yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	N|F|S	"""Fanconi anemia, complementation group E"""			L		AML|leukemia			0				ovary(1)|lung(1)|skin(1)	3						c.(1003-1005)CAG>TAG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group E							129.0	118.0	122.0					6																	35426107		2203	4300	6503	SO:0001587	stop_gained	2178	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35426107C>T	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.1003C>T	6.37:g.35426107C>T	ENSP00000229769:p.Gln335*					FANCE_uc010jvw.1_Nonsense_Mutation_p.Q328*	p.Q335*	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN			5	1188	+			335			Interaction with FANCC.		A8K907|Q4ZGH2	Nonsense_Mutation	SNP	ENST00000229769.2	37	c.1003C>T	CCDS4805.1	.	.	.	.	.	.	.	.	.	.	C	37	6.176643	0.97348	.	.	ENSG00000112039	ENST00000229769	.	.	.	5.41	4.52	0.55395	.	0.496807	0.23900	N	0.043456	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-7.0488	12.0627	0.53570	0.0:0.8266:0.1734:0.0	.	.	.	.	X	335	.	ENSP00000229769:Q335X	Q	+	1	0	FANCE	35534085	0.582000	0.26749	0.987000	0.45799	0.683000	0.39861	0.823000	0.27366	1.243000	0.43853	0.561000	0.74099	CAG		0.602	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1				43	146	0	0	0	0.048971	0	43	146		
SLC26A8	116369	broad.mit.edu	37	6	35923092	35923092	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:35923092G>C	ENST00000490799.1	-	17	2422	c.2069C>G	c.(2068-2070)tCa>tGa	p.S690*	SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.S585*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.S690*	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GCTGTTTCTTGATGAGTTATT	0.512																																						uc003olm.2		NaN																	0				ovary(2)	2						c.(2068-2070)TCA>TGA		solute carrier family 26, member 8 isoform a							200.0	193.0	196.0					6																	35923092		2203	4300	6503	SO:0001587	stop_gained	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35923092G>C	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2069C>G	6.37:g.35923092G>C	ENSP00000417638:p.Ser690*					SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Nonsense_Mutation_p.S272*|SLC26A8_uc003oln.2_Nonsense_Mutation_p.S690*|SLC26A8_uc003oll.2_Nonsense_Mutation_p.S585*	p.S690*	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			17	2180	-			690			Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000490799.1	37	c.2069C>G	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	37	6.517807	0.97629	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	.	.	.	4.4	-1.19	0.09585	.	1.845660	0.02493	N	0.089639	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	3.1088	0.06351	0.2943:0.0:0.3621:0.3436	.	.	.	.	X	690;585;690	.	ENSP00000347778:S690X	S	-	2	0	SLC26A8	36031070	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.347000	0.07750	-0.349000	0.08274	-0.314000	0.08810	TCA		0.512	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2				4	60	0	0	0	0.009096	0	4	60		
MAPK13	5603	broad.mit.edu	37	6	36098379	36098379	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:36098379A>G	ENST00000211287.4	+	1	282	c.20A>G	c.(19-21)aAg>aGg	p.K7R	MAPK13_ENST00000373759.1_5'Flank|MAPK13_ENST00000373766.5_Missense_Mutation_p.K7R|MAPK13_ENST00000373761.6_Missense_Mutation_p.K7R	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	7					cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						ATCCGGAAAAAGGGCTTCTAC	0.697																																						uc003ols.2		NaN																	0				breast(2)|central_nervous_system(1)	3						c.(19-21)AAG>AGG		mitogen-activated protein kinase 13							28.0	27.0	27.0					6																	36098379		2199	4298	6497	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36098379A>G	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.20A>G	6.37:g.36098379A>G	ENSP00000211287:p.Lys7Arg					MAPK13_uc003olt.2_RNA	p.K7R	NM_002754	NP_002745	O15264	MK13_HUMAN			1	118	+			7					O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.20A>G	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	A	6.131	0.392389	0.11638	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770;ENST00000373766	T;T;T	0.70869	-0.34;-0.52;-0.18	4.3	-1.34	0.09143	Protein kinase-like domain (1);	0.667620	0.13434	N	0.388180	T	0.26268	0.0641	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29366	-1.0014	10	0.26408	T	0.33	-6.0464	10.1854	0.42995	0.3399:0.0:0.6601:0.0	.	7	O15264	MK13_HUMAN	R	7	ENSP00000362866:K7R;ENSP00000211287:K7R;ENSP00000362871:K7R	ENSP00000211287:K7R	K	+	2	0	MAPK13	36206357	0.996000	0.38824	0.761000	0.31378	0.527000	0.34593	0.909000	0.28558	-0.146000	0.11274	-0.415000	0.06103	AAG		0.697	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1				2	10	0	0	0	0.004672	0	2	10		
NCR2	9436	broad.mit.edu	37	6	41304071	41304071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:41304071G>C	ENST00000373089.5	+	2	387	c.299G>C	c.(298-300)aGa>aCa	p.R100T	NCR2_ENST00000373086.3_Missense_Mutation_p.R100T|NCR2_ENST00000373083.4_Missense_Mutation_p.R100T	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	100	Ig-like.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACTGATCTGAGAGAGGAAGAC	0.517																																						uc003oqh.2		NaN																	0				ovary(1)	1						c.(298-300)AGA>ACA		natural cytotoxicity triggering receptor 2							93.0	86.0	88.0					6																	41304071		2203	4300	6503	SO:0001583	missense	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41304071G>C	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.299G>C	6.37:g.41304071G>C	ENSP00000362181:p.Arg100Thr					NCR2_uc003oqi.2_Missense_Mutation_p.R100T|NCR2_uc003oqj.2_Missense_Mutation_p.R100T	p.R100T	NM_004828	NP_004819	O95944	NCTR2_HUMAN			2	386	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		100			Extracellular (Potential).|Ig-like.		Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	ENST00000373089.5	37	c.299G>C	CCDS4855.1	.	.	.	.	.	.	.	.	.	.	G	8.297	0.818974	0.16607	.	.	ENSG00000096264	ENST00000373083;ENST00000373089;ENST00000373086	T;T;T	0.65364	-0.15;-0.15;-0.15	4.25	-8.5	0.00927	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09202	0.0227	N	0.10916	0.065	0.09310	N	1	B;B;B	0.21753	0.017;0.033;0.06	B;B;B	0.18871	0.016;0.023;0.016	T	0.07947	-1.0746	9	0.11182	T	0.66	.	2.0329	0.03533	0.3379:0.3631:0.1161:0.1829	.	100;100;100	O95944-3;O95944-2;O95944	.;.;NCTR2_HUMAN	T	100	ENSP00000362175:R100T;ENSP00000362181:R100T;ENSP00000362178:R100T	ENSP00000362175:R100T	R	+	2	0	NCR2	41412049	0.000000	0.05858	0.000000	0.03702	0.773000	0.43773	-2.459000	0.01000	-2.732000	0.00383	0.655000	0.94253	AGA		0.517	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3				3	72	0	0	0	0.014758	0	3	72		
FRS3	10817	broad.mit.edu	37	6	41738604	41738604	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:41738604G>T	ENST00000373018.3	-	7	1483	c.1232C>A	c.(1231-1233)cCc>cAc	p.P411H	FRS3_ENST00000259748.2_Missense_Mutation_p.P411H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	411					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCCTTGGGGGCTCGGGCCC	0.687																																						uc003orc.1		NaN																	0				ovary(2)	2						c.(1231-1233)CCC>CAC		fibroblast growth factor receptor substrate 3							18.0	24.0	22.0					6																	41738604		2195	4278	6473	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738604G>T	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1232C>A	6.37:g.41738604G>T	ENSP00000362109:p.Pro411His						p.P411H	NM_006653	NP_006644	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1476	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		411					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1232C>A	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081844	0.55861	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.27557	1.66;1.66	5.76	3.89	0.44902	.	0.613338	0.18208	N	0.148261	T	0.13329	0.0323	L	0.27053	0.805	0.39102	D	0.961306	D	0.56746	0.977	P	0.46718	0.525	T	0.03423	-1.1038	10	0.62326	D	0.03	-29.485	6.8492	0.24005	0.086:0.0:0.6558:0.2582	.	411	O43559	FRS3_HUMAN	H	411	ENSP00000362109:P411H;ENSP00000259748:P411H	ENSP00000259748:P411H	P	-	2	0	FRS3	41846582	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.862000	0.62976	1.450000	0.47717	0.655000	0.94253	CCC		0.687	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2		NM_006653		9	30	1	0	7.48243e-07	0.058154	8.15997e-07	9	30		
CUL9	23113	broad.mit.edu	37	6	43181255	43181255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:43181255C>T	ENST00000252050.4	+	28	5522	c.5438C>T	c.(5437-5439)tCa>tTa	p.S1813L	CUL9_ENST00000354495.3_Missense_Mutation_p.S1703L|CUL9_ENST00000372647.2_Missense_Mutation_p.S1813L|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000502937.1_3'UTR	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1813					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCCTCACCTCAGGGAATGGC	0.632																																						uc003ouk.2		NaN																	0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(5437-5439)TCA>TTA		p53-associated parkin-like cytoplasmic protein							54.0	55.0	54.0					6																	43181255		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43181255C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5438C>T	6.37:g.43181255C>T	ENSP00000252050:p.Ser1813Leu					CUL9_uc003oul.2_Missense_Mutation_p.S1813L|CUL9_uc010jyk.2_Missense_Mutation_p.S965L|CUL9_uc003oun.2_5'Flank	p.S1813L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			28	5513	+			1813					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.5438C>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741865	0.49151	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.75260	-0.92;-0.92;-0.92	5.07	4.14	0.48551	Cullin, N-terminal (1);Cullin homology (1);	0.472449	0.24571	N	0.037387	T	0.54447	0.1859	L	0.58101	1.795	0.09310	N	1	B;B;B	0.33583	0.418;0.193;0.193	B;B;B	0.31390	0.083;0.129;0.129	T	0.56117	-0.8032	10	0.87932	D	0	-8.4447	9.7771	0.40626	0.1914:0.6835:0.1251:0.0	.	1703;1813;1813	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	L	1813;1703;1813	ENSP00000252050:S1813L;ENSP00000346490:S1703L;ENSP00000361730:S1813L	ENSP00000252050:S1813L	S	+	2	0	CUL9	43289233	0.000000	0.05858	0.921000	0.36526	0.800000	0.45204	0.381000	0.20619	2.351000	0.79841	0.655000	0.94253	TCA		0.632	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089		12	65	0	0	0	0.09319	0	12	65		
CYP39A1	51302	broad.mit.edu	37	6	46607286	46607286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:46607286C>A	ENST00000275016.2	-	3	636	c.433G>T	c.(433-435)Gaa>Taa	p.E145*		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	145					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TCCAGTTGTTCATGTAATTCT	0.363																																						uc003oyf.1		NaN																	0				ovary(1)	1						c.(433-435)GAA>TAA		cytochrome P450, family 39, subfamily A,							140.0	131.0	134.0					6																	46607286		2203	4300	6503	SO:0001587	stop_gained	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46607286C>A	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.433G>T	6.37:g.46607286C>A	ENSP00000275016:p.Glu145*					CYP39A1_uc011dwa.1_Nonsense_Mutation_p.E125*|CYP39A1_uc010jzd.1_Intron	p.E145*	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN			3	637	-			145					Q5VTT0|Q96FW5	Nonsense_Mutation	SNP	ENST00000275016.2	37	c.433G>T	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	37	6.195557	0.97367	.	.	ENSG00000146233	ENST00000275016	.	.	.	5.55	0.784	0.18578	.	0.449021	0.25400	N	0.030950	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-2.1052	9.0469	0.36352	0.0:0.5629:0.0:0.4371	.	.	.	.	X	145	.	ENSP00000275016:E145X	E	-	1	0	CYP39A1	46715245	0.316000	0.24580	0.111000	0.21465	0.997000	0.91878	0.394000	0.20834	-0.033000	0.13736	0.585000	0.79938	GAA		0.363	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1				9	82	1	0	2.17888e-05	0.058154	2.3303e-05	9	82		
CYP39A1	51302	broad.mit.edu	37	6	46607298	46607298	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:46607298C>T	ENST00000275016.2	-	3	624	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	141					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TGTAATTCTTCAGTCAGTTGC	0.378																																						uc003oyf.1		NaN																	0				ovary(1)	1						c.(421-423)GAA>AAA		cytochrome P450, family 39, subfamily A,							137.0	128.0	131.0					6																	46607298		2203	4300	6503	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46607298C>T	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.421G>A	6.37:g.46607298C>T	ENSP00000275016:p.Glu141Lys					CYP39A1_uc011dwa.1_Missense_Mutation_p.E121K|CYP39A1_uc010jzd.1_Intron	p.E141K	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN			3	625	-			141					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.421G>A	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980151	0.53827	.	.	ENSG00000146233	ENST00000275016	T	0.69561	-0.41	5.55	5.55	0.83447	.	0.167513	0.52532	D	0.000076	T	0.43299	0.1241	L	0.46157	1.445	0.42409	D	0.992597	P;P	0.39326	0.498;0.668	B;B	0.34346	0.105;0.18	T	0.42241	-0.9463	10	0.25106	T	0.35	-20.6247	13.0474	0.58935	0.0:0.8385:0.1615:0.0	.	121;141	B7Z786;Q9NYL5	.;CP39A_HUMAN	K	141	ENSP00000275016:E141K	ENSP00000275016:E141K	E	-	1	0	CYP39A1	46715257	1.000000	0.71417	0.980000	0.43619	0.976000	0.68499	1.543000	0.36147	2.773000	0.95371	0.585000	0.79938	GAA		0.378	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1				7	75	0	0	0	0.038147	0	7	75		
SIM1	6492	broad.mit.edu	37	6	100911253	100911253	+	Missense_Mutation	SNP	G	G	A	rs375766542		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:100911253G>A	ENST00000369208.3	-	2	874	c.92C>T	c.(91-93)tCg>tTg	p.S31L	SIM1_ENST00000262901.4_Missense_Mutation_p.S31L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	31	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S31L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGTGATAGCCGAGGGCAAAGG	0.458																																						uc003pqj.3		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(4)	4						c.(91-93)TCG>TTG		single-minded homolog 1							186.0	183.0	184.0					6																	100911253		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100911253G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.92C>T	6.37:g.100911253G>A	ENSP00000358210:p.Ser31Leu					SIM1_uc010kcu.2_Missense_Mutation_p.S31L	p.S31L	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	1	299	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	31			Helix-loop-helix motif.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.92C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	35	5.548061	0.96488	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	D;D	0.97976	-4.64;-4.64	6.17	6.17	0.99709	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	N	0.24115	0.695	0.80722	D	1	P	0.52061	0.95	P	0.48030	0.564	D	0.95278	0.8383	10	0.54805	T	0.06	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	31	P81133	SIM1_HUMAN	L	31	ENSP00000358210:S31L;ENSP00000262901:S31L	ENSP00000262901:S31L	S	-	2	0	SIM1	101017974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCG		0.458	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3		NM_005068		16	80	0	0	0	0.0333	0	16	80		
NT5DC1	221294	broad.mit.edu	37	6	116436852	116436852	+	Splice_Site	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:116436852A>G	ENST00000319550.4	+	5	446		c.e5-1			NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1								hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GTTCTTTTTTAGGAAAGTATT	0.368																																					Colon(128;1440 1664 38087 41475 42869)	uc003pwj.2		NaN																	0					0						c.e5-2		5'-nucleotidase, cytosolic II-like 1 protein							100.0	94.0	96.0					6																	116436852		2203	4300	6503	SO:0001630	splice_region_variant	221294						hydrolase activity|metal ion binding	g.chr6:116436852A>G	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.365-1A>G	6.37:g.116436852A>G						NT5DC1_uc003pwk.2_Splice_Site_p.G122_splice|NT5DC1_uc003pwl.2_Splice_Site_p.G72_splice	p.G122_splice	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	5	460	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)						B2RND9|B3KR35|Q6XYD5	Splice_Site	SNP	ENST00000319550.4	37	c.365_splice	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515362	0.64634	.	.	ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791;ENST00000417846	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5838	0.68310	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NT5DC1	116543545	1.000000	0.71417	0.997000	0.53966	0.628000	0.37860	8.031000	0.88826	2.180000	0.69256	0.533000	0.62120	.		0.368	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3		NM_152729	Intron	8	20	0	0	0	0.047766	0	8	20		
IL20RA	53832	broad.mit.edu	37	6	137330458	137330458	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:137330458C>T	ENST00000316649.5	-	4	810	c.575G>A	c.(574-576)aGa>aAa	p.R192K	IL20RA_ENST00000367748.1_Missense_Mutation_p.R81K|IL20RA_ENST00000541547.1_Missense_Mutation_p.R143K|IL20RA_ENST00000367746.3_Missense_Mutation_p.R192K|IL20RA_ENST00000468393.1_5'UTR	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	192	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GCTTACCGTTCTGTTTGATTT	0.403																																						uc003qhj.2		NaN																	0				ovary(2)|skin(2)	4						c.(574-576)AGA>AAA		interleukin 20 receptor, alpha precursor							176.0	165.0	168.0					6																	137330458		2203	4300	6503	SO:0001583	missense	53832					integral to membrane	receptor activity	g.chr6:137330458C>T	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.575G>A	6.37:g.137330458C>T	ENSP00000314976:p.Arg192Lys					IL20RA_uc011edl.1_Missense_Mutation_p.R143K|IL20RA_uc003qhk.2_Missense_Mutation_p.R81K|IL20RA_uc010kgy.1_RNA|IL20RA_uc003qhi.2_5'Flank	p.R192K	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	4	1008	-	Colorectal(23;0.24)		192			Extracellular (Potential).|Fibronectin type-III 2.		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	c.575G>A	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	C	9.088	1.001042	0.19121	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547;ENST00000367746	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.92	1.58	0.23477	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.601858	0.18430	N	0.141446	T	0.02304	0.0071	N	0.12961	0.28	0.24200	N	0.995512	B;B	0.24258	0.1;0.007	B;B	0.17098	0.017;0.012	T	0.43310	-0.9399	10	0.02654	T	1	-6.1631	2.6689	0.05061	0.2066:0.4162:0.0:0.3773	.	81;192	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	K	192;81;143;192	ENSP00000314976:R192K;ENSP00000356722:R81K;ENSP00000437843:R143K;ENSP00000356720:R192K	ENSP00000314976:R192K	R	-	2	0	IL20RA	137372151	0.892000	0.30473	0.414000	0.26521	0.779000	0.44077	0.586000	0.23894	0.394000	0.25230	0.650000	0.86243	AGA		0.403	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1		NM_014432		14	91	0	0	0	0.024245	0	14	91		
TXLNB	167838	broad.mit.edu	37	6	139583802	139583802	+	Missense_Mutation	SNP	C	C	G	rs140293549		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:139583802C>G	ENST00000358430.3	-	5	1028	c.796G>C	c.(796-798)Gag>Cag	p.E266Q		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	266						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ATATTTCGCTCACTCTGCTGC	0.502																																						uc011eds.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(796-798)GAG>CAG		taxilin beta		C	GLN/GLU	0,4406		0,0,2203	192.0	155.0	167.0		796	5.8	1.0	6	dbSNP_134	167	1,8599	1.2+/-3.3	0,1,4299	no	missense	TXLNB	NM_153235.3	29	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging	266/685	139583802	1,13005	2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139583802C>G		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.796G>C	6.37:g.139583802C>G	ENSP00000351206:p.Glu266Gln						p.E266Q	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	5	961	-			266			Potential.		Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.796G>C	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109319	0.77096	0.0	1.16E-4	ENSG00000164440	ENST00000358430	T	0.29655	1.56	5.75	5.75	0.90469	.	0.153579	0.64402	D	0.000012	T	0.34513	0.0900	L	0.41632	1.29	0.46131	D	0.998884	D	0.54772	0.968	P	0.58013	0.831	T	0.00953	-1.1502	9	.	.	.	-24.4389	19.9334	0.97128	0.0:1.0:0.0:0.0	.	266	Q8N3L3	TXLNB_HUMAN	Q	266	ENSP00000351206:E266Q	.	E	-	1	0	TXLNB	139625495	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	3.616000	0.54174	2.712000	0.92718	0.655000	0.94253	GAG		0.502	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1		NM_153235		17	57	0	0	0	0.055883	0	17	57		
SF3B5	83443	broad.mit.edu	37	6	144416498	144416498	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:144416498T>C	ENST00000367569.2	-	1	256	c.137A>G	c.(136-138)cAc>cGc	p.H46R		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	46					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		AAGGTCGAAGTGGCCCATGTA	0.572																																						uc003qkr.1		NaN																	0					0						c.(136-138)CAC>CGC		SF3b10							118.0	100.0	106.0					6																	144416498		2203	4300	6503	SO:0001583	missense	83443				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex		g.chr6:144416498T>C	BC000198	CCDS5204.1	6q24.1	2010-01-26			ENSG00000169976	ENSG00000169976			21083	protein-coding gene	gene with protein product						12234937	Standard	NM_031287		Approved	SF3b10, MGC3133, Ysf3	uc003qkr.1	Q9BWJ5	OTTHUMG00000015737	ENST00000367569.2:c.137A>G	6.37:g.144416498T>C	ENSP00000356541:p.His46Arg						p.H46R	NM_031287	NP_112577	Q9BWJ5	SF3B5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)	1	257	-			46					B2R568|Q7RTV1	Missense_Mutation	SNP	ENST00000367569.2	37	c.137A>G	CCDS5204.1	.	.	.	.	.	.	.	.	.	.	T	33	5.208686	0.95069	.	.	ENSG00000169976	ENST00000367569	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80728	-0.1253	8	0.87932	D	0	-36.6359	16.2827	0.82703	0.0:0.0:0.0:1.0	.	46	Q9BWJ5	SF3B5_HUMAN	R	46	.	ENSP00000356541:H46R	H	-	2	0	SF3B5	144458191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.996000	0.88334	2.324000	0.78689	0.533000	0.62120	CAC		0.572	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042537.1		NM_031287		20	68	0	0	0	0.062417	0	20	68		
FNDC1	84624	broad.mit.edu	37	6	159654497	159654497	+	Missense_Mutation	SNP	C	C	T	rs532191873		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:159654497C>T	ENST00000297267.9	+	11	3153	c.2953C>T	c.(2953-2955)Cgg>Tgg	p.R985W	FNDC1_ENST00000340366.6_Missense_Mutation_p.R922W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	985					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCGCAGCACGGTCACAGCA	0.677																																						uc010kjv.2		NaN																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2953-2955)CGG>TGG		fibronectin type III domain containing 1							29.0	35.0	33.0					6																	159654497		2194	4283	6477	SO:0001583	missense	84624					extracellular region		g.chr6:159654497C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2953C>T	6.37:g.159654497C>T	ENSP00000297267:p.Arg985Trp					FNDC1_uc010kjw.1_Missense_Mutation_p.R870W	p.R985W	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3153	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	985					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2953C>T	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.12|14.12	2.440478|2.440478	0.43326|0.43326	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.09350|.	2.99;3.81|.	4.14|4.14	-2.3|-2.3	0.06785|0.06785	.|.	1.050570|.	0.07476|.	N|.	0.902984|.	T|T	0.12987|0.12987	0.0315|0.0315	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	D;D|.	0.76494|.	0.999;0.999|.	P;P|.	0.60609|.	0.877;0.825|.	T|T	0.34254|0.34254	-0.9836|-0.9836	10|5	0.72032|.	D|.	0.01|.	-7.5262|-7.5262	6.5473|6.5473	0.22412|0.22412	0.5162:0.2225:0.2613:0.0|0.5162:0.2225:0.2613:0.0	.|.	922;985|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	W|M	985;922|880	ENSP00000297267:R985W;ENSP00000342460:R922W|.	ENSP00000297267:R985W|.	R|T	+|+	1|2	2|0	FNDC1|FNDC1	159574487|159574487	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.219000|0.219000	0.24729|0.24729	0.040000|0.040000	0.13905|0.13905	-0.193000|-0.193000	0.10415|0.10415	0.555000|0.555000	0.69702|0.69702	CGG|ACG		0.677	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		NM_032532		3	14	0	0	0	0.004672	0	3	14		
SNX13	23161	broad.mit.edu	37	7	17879515	17879515	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:17879515C>T	ENST00000409389.1	-	13	1446	c.1274G>A	c.(1273-1275)aGa>aAa	p.R425K	SNX13_ENST00000428135.3_Missense_Mutation_p.R425K			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	425	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTTTCCATCTCTCTGACGACT	0.413																																						uc003stw.1		NaN																	0				central_nervous_system(2)|kidney(1)	3						c.(1273-1275)AGA>AAA		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							167.0	150.0	155.0					7																	17879515		1877	4107	5984	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17879515C>T	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1274G>A	7.37:g.17879515C>T	ENSP00000386705:p.Arg425Lys					SNX13_uc003stv.2_Missense_Mutation_p.R425K|SNX13_uc010kuc.2_Missense_Mutation_p.R222K	p.R425K			Q9Y5W8	SNX13_HUMAN			13	1487	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		425			RGS.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.1274G>A		.	.	.	.	.	.	.	.	.	.	C	6.751	0.507445	0.12883	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.15718	2.4;2.66	5.25	4.21	0.49690	.	0.216680	0.47455	N	0.000227	T	0.08846	0.0219	L	0.27053	0.805	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.13683	-1.0500	10	0.05721	T	0.95	-7.2844	6.0721	0.19895	0.0:0.4126:0.0:0.5874	.	222;425;425	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	K	425;425;473	ENSP00000386705:R425K;ENSP00000398789:R425K	ENSP00000242044:R473K	R	-	2	0	SNX13	17846040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.585000	0.36600	1.107000	0.41642	0.557000	0.71058	AGA		0.413	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1		NM_015132		6	34	0	0	0	0.021553	0	6	34		
ELMO1	9844	broad.mit.edu	37	7	37252967	37252967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:37252967C>T	ENST00000310758.4	-	12	1574	c.927G>A	c.(925-927)atG>atA	p.M309I	ELMO1_ENST00000448602.1_Missense_Mutation_p.M309I|ELMO1_ENST00000442504.1_Missense_Mutation_p.M309I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	309					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTTGGTCATCATCCTGTCTT	0.498																																						uc003tfk.1		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(925-927)ATG>ATA		engulfment and cell motility 1 isoform 1							133.0	115.0	121.0					7																	37252967		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37252967C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.927G>A	7.37:g.37252967C>T	ENSP00000312185:p.Met309Ile					ELMO1_uc011kbc.1_Missense_Mutation_p.M213I|ELMO1_uc010kxg.1_Missense_Mutation_p.M309I	p.M309I	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			12	1234	-			309					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.927G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966694	0.92855	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.2	5.2	0.72013	Engulfment/cell motility, ELMO (1);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	L	0.38175	1.15	0.80722	D	1	P	0.46395	0.877	P	0.49953	0.627	T	0.01294	-1.1393	10	0.21014	T	0.42	.	19.6158	0.95633	0.0:1.0:0.0:0.0	.	309	Q92556	ELMO1_HUMAN	I	309;213;309;309;50	ENSP00000312185:M309I;ENSP00000406952:M309I;ENSP00000394458:M309I;ENSP00000395933:M50I	ENSP00000312185:M309I	M	-	3	0	ELMO1	37219492	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.809000	0.96659	0.655000	0.94253	ATG		0.498	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4		NM_130442		11	71	0	0	0	0.080935	0	11	71		
SLC26A4	5172	broad.mit.edu	37	7	107329646	107329646	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:107329646G>A	ENST00000265715.3	+	9	1373		c.e9+1		SLC26A4_ENST00000541474.1_5'Flank|SLC26A4_ENST00000544569.1_5'Flank	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGGGAACCAGGTATGGGTGCC	0.433									Pendred syndrome																													uc003vep.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.e9+1		pendrin							145.0	135.0	139.0					7																	107329646		2203	4300	6503	SO:0001630	splice_region_variant	5172	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107329646G>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1149+1G>A	7.37:g.107329646G>A						SLC26A4_uc011kmb.1_5'Flank|SLC26A4_uc011kmc.1_5'Flank	p.Q383_splice	NM_000441	NP_000432	O43511	S26A4_HUMAN			9	1373	+								B7Z266|O43170	Splice_Site	SNP	ENST00000265715.3	37	c.1149_splice	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638985	0.87760	.	.	ENSG00000091137	ENST00000265715	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6596	0.95859	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A4	107116882	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.014000	0.93635	2.648000	0.89879	0.561000	0.74099	.		0.433	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1		NM_000441	Intron	18	105	0	0	0	0.049695	0	18	105		
CADPS2	93664	broad.mit.edu	37	7	122130270	122130270	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:122130270C>A	ENST00000449022.2	-	11	1736	c.1717G>T	c.(1717-1719)Gat>Tat	p.D573Y	CADPS2_ENST00000313070.7_Missense_Mutation_p.D573Y|CADPS2_ENST00000334010.7_Missense_Mutation_p.D573Y|CADPS2_ENST00000476131.1_5'Flank|CADPS2_ENST00000412584.2_Missense_Mutation_p.D573Y	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	573	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGTTCATCATCACTGGCAAAG	0.388																																						uc010lkp.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1717-1719)GAT>TAT		Ca2+-dependent activator protein for secretion 2							157.0	153.0	155.0					7																	122130270		1892	4120	6012	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122130270C>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1717G>T	7.37:g.122130270C>A	ENSP00000398481:p.Asp573Tyr					CADPS2_uc003vkg.3_Missense_Mutation_p.D273Y|CADPS2_uc010lkq.2_Missense_Mutation_p.D573Y	p.D573Y	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			11	1880	-			573			PH.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.1717G>T	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.568032|4.568032	0.86439|0.86439	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.77098|.	-1.07;-1.07;-1.07;-1.07|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74680|.	0.3748|.	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D;P|.	0.89917|.	1.0;0.993;0.907|.	D;D;P|.	0.91635|.	0.999;0.912;0.789|.	T|.	0.73748|.	-0.3885|.	10|.	0.87932|.	D|.	0|.	-15.1929|-15.1929	18.8508|18.8508	0.92227|0.92227	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	573;573;573|.	Q86UW7-2;Q86UW7;Q86UW7-3|.	.;CAPS2_HUMAN;.|.	Y|L	573;573;573;540;573;573|221	ENSP00000325581:D573Y;ENSP00000333940:D573Y;ENSP00000400401:D573Y;ENSP00000398481:D573Y|.	ENSP00000325581:D573Y|.	D|X	-|-	1|2	0|2	CADPS2|CADPS2	121917506|121917506	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.942000|5.942000	0.70203|0.70203	2.446000|2.446000	0.82766|0.82766	0.491000|0.491000	0.48974|0.48974	GAT|TGA		0.388	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2		NM_017954		6	133	1	0	1.26484e-09	0.038147	1.40708e-09	6	133		
CSMD3	114788	broad.mit.edu	37	8	113353795	113353795	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:113353795G>C	ENST00000297405.5	-	42	6807	c.6563C>G	c.(6562-6564)tCt>tGt	p.S2188C	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2148C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2084C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2118C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2188	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAATAAGGAAGATGGTATTTG	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6562-6564)TCT>TGT		CUB and Sushi multiple domains 3 isoform 1							132.0	127.0	129.0					8																	113353795		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113353795G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6563C>G	8.37:g.113353795G>C	ENSP00000297405:p.Ser2188Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S1390C|CSMD3_uc003ynt.2_Missense_Mutation_p.S2148C|CSMD3_uc011lhx.1_Missense_Mutation_p.S2084C	p.S2188C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			42	6722	-			2188			Extracellular (Potential).|CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6563C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453079	0.63290	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	4.56	4.56	0.56223	CUB (5);	0.529880	0.19291	N	0.117896	T	0.41373	0.1156	M	0.81802	2.56	0.31746	N	0.635235	P;P;P	0.51933	0.949;0.899;0.655	P;P;P	0.51657	0.669;0.676;0.556	T	0.53627	-0.8412	10	0.51188	T	0.08	.	17.8784	0.88831	0.0:0.0:1.0:0.0	.	2084;2188;2148	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2148;2188;1458;2084;2118	ENSP00000345799:S2148C;ENSP00000297405:S2188C;ENSP00000341558:S1458C;ENSP00000412263:S2084C;ENSP00000343124:S2118C	ENSP00000297405:S2188C	S	-	2	0	CSMD3	113422971	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.673000	0.61604	2.520000	0.84964	0.655000	0.94253	TCT		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		20	87	0	0	0	0.076483	0	20	87		
CSMD3	114788	broad.mit.edu	37	8	113353910	113353910	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:113353910G>A	ENST00000297405.5	-	42	6692	c.6448C>T	c.(6448-6450)Cat>Tat	p.H2150Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.H2110Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2046Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2080Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2150	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTGGAGATGTACACCTGAA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6448-6450)CAT>TAT		CUB and Sushi multiple domains 3 isoform 1							53.0	52.0	52.0					8																	113353910		2202	4300	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113353910G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6448C>T	8.37:g.113353910G>A	ENSP00000297405:p.His2150Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.H1352Y|CSMD3_uc003ynt.2_Missense_Mutation_p.H2110Y|CSMD3_uc011lhx.1_Missense_Mutation_p.H2046Y	p.H2150Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			42	6607	-			2150			Extracellular (Potential).|CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6448C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955689	0.73902	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	4.66	4.66	0.58398	CUB (5);	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	M	0.83384	2.64	0.49687	D	0.999813	D;D;D	0.89917	0.997;0.99;1.0	D;D;D	0.91635	0.995;0.992;0.999	T	0.47674	-0.9099	10	0.45353	T	0.12	.	18.0944	0.89483	0.0:0.0:1.0:0.0	.	2046;2150;2110	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	2110;2150;1420;2046;2080	ENSP00000345799:H2110Y;ENSP00000297405:H2150Y;ENSP00000341558:H1420Y;ENSP00000412263:H2046Y;ENSP00000343124:H2080Y	ENSP00000297405:H2150Y	H	-	1	0	CSMD3	113423086	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.763000	0.85283	2.568000	0.86640	0.655000	0.94253	CAT		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		5	19	0	0	0	0.014758	0	5	19		
ATAD2	29028	broad.mit.edu	37	8	124383930	124383930	+	Silent	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:124383930C>A	ENST00000287394.5	-	4	623	c.516G>T	c.(514-516)ctG>ctT	p.L172L	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	172					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTTGTCAAACAGCATGGACT	0.363																																						uc003yqh.3		NaN																	0				ovary(2)	2						c.(514-516)CTG>CTT		ATPase family, AAA domain containing 2							143.0	117.0	126.0					8																	124383930		2203	4300	6503	SO:0001819	synonymous_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124383930C>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.516G>T	8.37:g.124383930C>A						ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Silent_p.L172L	p.L172L	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		4	624	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		172					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	ENST00000287394.5	37	c.516G>T	CCDS6343.1																																																																																				0.363	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2		NM_014109		7	48	1	0	1.76689e-08	0.058154	1.94992e-08	7	48		
PHF20L1	51105	broad.mit.edu	37	8	133851656	133851656	+	Missense_Mutation	SNP	G	G	A	rs369386336		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:133851656G>A	ENST00000395386.2	+	18	2515	c.2216G>A	c.(2215-2217)cGt>cAt	p.R739H	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.R126H|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R714H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	739							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCAAAATATCGTTATGATAAG	0.368																																						uc003ytt.2		NaN																	0				ovary(2)	2						c.(2215-2217)CGT>CAT		PHD finger protein 20-like 1 isoform 1		G	HIS/ARG	0,3776		0,0,1888	137.0	132.0	134.0		2216	4.4	1.0	8		134	1,8247		0,1,4123	no	missense	PHF20L1	NM_016018.4	29	0,1,6011	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	739/1018	133851656	1,12023	1888	4124	6012	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133851656G>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2216G>A	8.37:g.133851656G>A	ENSP00000378784:p.Arg739His					PHF20L1_uc011lja.1_Missense_Mutation_p.R713H	p.R739H	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		18	2541	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		739					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.2216G>A	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199570	0.58126	0.0	1.21E-4	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.32515	1.45;1.45	5.41	4.45	0.53987	Zinc finger, FYVE/PHD-type (1);	0.405112	0.24003	U	0.042449	T	0.39384	0.1076	L	0.54323	1.7	0.42130	D	0.991464	D;D	0.57257	0.979;0.964	P;B	0.50049	0.629;0.425	T	0.31724	-0.9933	10	0.56958	D	0.05	-30.1161	14.9867	0.71353	0.0:0.0:0.8193:0.1807	.	714;739	F8W9L8;A8MW92	.;P20L1_HUMAN	H	739;126;714	ENSP00000378784:R739H;ENSP00000378788:R714H	ENSP00000220847:R126H	R	+	2	0	PHF20L1	133920838	1.000000	0.71417	0.982000	0.44146	0.981000	0.71138	5.823000	0.69272	2.552000	0.86080	0.655000	0.94253	CGT		0.368	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3		NM_016018		20	113	0	0	0	0.076483	0	20	113		
FAM135B	51059	broad.mit.edu	37	8	139163874	139163874	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:139163874C>A	ENST00000395297.1	-	13	3014	c.2844G>T	c.(2842-2844)agG>agT	p.R948S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	948										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGTTGAGTTCCTGTTGATGG	0.488										HNSCC(54;0.14)																												uc003yuy.2		NaN																	0				ovary(7)|skin(2)	9						c.(2842-2844)AGG>AGT		hypothetical protein LOC51059							153.0	125.0	134.0					8																	139163874		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163874C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2844G>T	8.37:g.139163874C>A	ENSP00000378710:p.Arg948Ser	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.R849S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R510S|FAM135B_uc003yvb.2_Missense_Mutation_p.R510S	p.R948S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3015	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		948					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2844G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	9.819	1.185355	0.21870	.	.	ENSG00000147724	ENST00000395297	T	0.13538	2.58	4.97	2.77	0.32553	.	1.401140	0.04561	N	0.391637	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B;B;B	0.13594	0.008;0.008;0.0	B;B;B	0.15870	0.014;0.008;0.001	T	0.34453	-0.9828	10	0.07030	T	0.85	0.312	5.2384	0.15458	0.1776:0.6227:0.0:0.1996	.	948;948;948	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	S	948	ENSP00000378710:R948S	ENSP00000276737:R948S	R	-	3	2	FAM135B	139233056	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.418000	0.21230	1.071000	0.40834	0.655000	0.94253	AGG		0.488	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3		NM_015912		29	114	1	0	1.75199e-13	0.034045	2.01369e-13	29	114		
FAM83H	286077	broad.mit.edu	37	8	144811408	144811408	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:144811408T>C	ENST00000388913.3	-	3	658	c.533A>G	c.(532-534)tAc>tGc	p.Y178C		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	178					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGCAGGATGTAGACTGGGAC	0.632																																						uc003yzk.2		NaN																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(532-534)TAC>TGC		FAM83H							62.0	69.0	67.0					8																	144811408		2091	4205	6296	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144811408T>C	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.533A>G	8.37:g.144811408T>C	ENSP00000373565:p.Tyr178Cys					FAM83H_uc010mfk.1_5'Flank	p.Y178C	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		3	602	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		178					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.533A>G	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	t	23.1	4.377701	0.82682	.	.	ENSG00000180921	ENST00000388913	T	0.24908	1.83	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.73598	2.24	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.56232	-0.8013	10	0.87932	D	0	.	14.3529	0.66716	0.0:0.0:0.0:1.0	.	178	Q6ZRV2	FA83H_HUMAN	C	178	ENSP00000373565:Y178C	ENSP00000373565:Y178C	Y	-	2	0	FAM83H	144883396	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.797000	0.85911	2.054000	0.61138	0.459000	0.35465	TAC		0.632	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2		NM_198488		24	99	0	0	0	0.099896	0	24	99		
SMARCA2	6595	broad.mit.edu	37	9	2088542	2088542	+	Missense_Mutation	SNP	C	C	A	rs545254683	byFrequency	TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:2088542C>A	ENST00000382203.1	+	19	3021	c.2812C>A	c.(2812-2814)Cta>Ata	p.L938I	SMARCA2_ENST00000349721.2_Missense_Mutation_p.L938I|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L938I|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L938I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	938					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CATCAGGCGTCTACATAAGGT	0.343																																						uc003zhc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2812-2814)CTA>ATA		SWI/SNF-related matrix-associated							119.0	135.0	129.0					9																	2088542		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2088542C>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2812C>A	9.37:g.2088542C>A	ENSP00000371638:p.Leu938Ile					SMARCA2_uc003zhd.2_Missense_Mutation_p.L938I|SMARCA2_uc010mha.2_Missense_Mutation_p.L871I	p.L938I	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	19	2911	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	938					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.2812C>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179250	0.57800	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48	5.43	4.54	0.55810	SNF2-related (1);	0.000000	0.64402	D	0.000006	D	0.98226	0.9413	M	0.85099	2.735	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.97110	1.0;0.986;0.992	D	0.98645	1.0677	10	0.87932	D	0	-12.902	10.3405	0.43875	0.0:0.8506:0.0:0.1494	.	539;938;938	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	I	938	ENSP00000265773:L938I;ENSP00000349788:L938I;ENSP00000371638:L938I;ENSP00000371629:L938I	ENSP00000265773:L938I	L	+	1	2	SMARCA2	2078542	1.000000	0.71417	0.983000	0.44433	0.696000	0.40369	2.123000	0.41996	1.313000	0.45069	-0.136000	0.14681	CTA		0.343	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1		NM_003070		9	78	1	0	9.70103e-10	0.069234	1.08354e-09	9	78		
CNTLN	54875	broad.mit.edu	37	9	17502622	17502622	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:17502622A>T	ENST00000380647.3	+	26	4277	c.4193A>T	c.(4192-4194)tAt>tTt	p.Y1398F	CNTLN_ENST00000425824.1_Missense_Mutation_p.Y1398F			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	0	Poly-Ser.				centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTTGAAGGATATTTCACAATT	0.279																																						uc003zmy.2		NaN																	0				pancreas(1)	1						c.(4192-4194)TAT>TTT		centlein isoform 1							37.0	34.0	35.0					9																	17502622		1778	4051	5829	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17502622A>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.4193A>T	9.37:g.17502622A>T	ENSP00000370021:p.Tyr1398Phe					CNTLN_uc010mio.2_3'UTR	p.Y1398F	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	26	4219	+			Error:Variant_position_missing_in_Q9NXG0_after_alignment					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.4193A>T	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.379027	0.42207	.	.	ENSG00000044459	ENST00000380647;ENST00000425824	T;T	0.18174	2.23;2.23	5.63	4.5	0.54988	.	.	.	.	.	T	0.33352	0.0860	M	0.65975	2.015	0.80722	D	1	D	0.59767	0.986	P	0.58130	0.833	T	0.06023	-1.0850	9	0.87932	D	0	.	11.3741	0.49717	0.929:0.0:0.071:0.0	.	1398	Q9NXG0-2	.	F	1398	ENSP00000370021:Y1398F;ENSP00000392798:Y1398F	ENSP00000370021:Y1398F	Y	+	2	0	CNTLN	17492622	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.502000	0.60400	0.969000	0.38237	0.533000	0.62120	TAT		0.279	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3		NM_017738		4	14	0	0	0	0.009096	0	4	14		
LRRC19	64922	broad.mit.edu	37	9	26995683	26995683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:26995683C>T	ENST00000380055.5	-	5	1059	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	LRRC19_ENST00000482770.1_5'UTR|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000380062.5_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	317						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AAACCATCTTCATAGGTTTCT	0.343																																						uc003zqh.2		NaN																	0					0						c.(949-951)GAA>AAA		leucine rich repeat containing 19 precursor							128.0	127.0	128.0					9																	26995683		2203	4300	6503	SO:0001583	missense	64922					integral to membrane		g.chr9:26995683C>T	AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.949G>A	9.37:g.26995683C>T	ENSP00000369395:p.Glu317Lys					IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron	p.E317K	NM_022901	NP_075052	Q9H756	LRC19_HUMAN		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)	5	1060	-		all_neural(11;1.81e-09)	317			Cytoplasmic (Potential).		A0AV00|B9EG91	Missense_Mutation	SNP	ENST00000380055.5	37	c.949G>A	CCDS6518.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485837	0.44147	.	.	ENSG00000184434	ENST00000380055	T	0.53857	0.6	5.55	3.71	0.42584	.	0.837919	0.10910	N	0.620714	T	0.51092	0.1654	L	0.60455	1.87	0.34658	D	0.722333	P	0.46395	0.877	B	0.40636	0.335	T	0.61337	-0.7083	10	0.72032	D	0.01	-0.0482	11.7226	0.51691	0.0:0.8579:0.0:0.1421	.	317	Q9H756	LRC19_HUMAN	K	317	ENSP00000369395:E317K	ENSP00000369395:E317K	E	-	1	0	LRRC19	26985683	0.996000	0.38824	0.105000	0.21289	0.060000	0.15804	2.360000	0.44151	0.716000	0.32124	-0.225000	0.12378	GAA		0.343	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2		NM_022901		9	67	0	0	0	0.058154	0	9	67		
VPS13A	23230	broad.mit.edu	37	9	79959136	79959136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:79959136C>T	ENST00000360280.3	+	51	7354	c.7094C>T	c.(7093-7095)cCt>cTt	p.P2365L	VPS13A_ENST00000357409.5_Missense_Mutation_p.P2365L|VPS13A_ENST00000376634.4_Missense_Mutation_p.P2365L|VPS13A_ENST00000376636.3_Missense_Mutation_p.P2326L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2365					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGTGAAGATCCTCCCAAAAGG	0.303																																						uc004akr.2		NaN																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(7093-7095)CCT>CTT		vacuolar protein sorting 13A isoform A							87.0	98.0	94.0					9																	79959136		2203	4297	6500	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79959136C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7094C>T	9.37:g.79959136C>T	ENSP00000353422:p.Pro2365Leu					VPS13A_uc004akp.3_Missense_Mutation_p.P2365L|VPS13A_uc004akq.3_Missense_Mutation_p.P2365L|VPS13A_uc004aks.2_Missense_Mutation_p.P2326L	p.P2365L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			51	7354	+			2365					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.7094C>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068021	0.55539	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.96	5.06	0.68205	Vacuolar protein sorting-associated protein (1);	0.058260	0.64402	D	0.000001	T	0.24812	0.0602	L	0.41824	1.3	0.80722	D	1	B;P;P;P	0.42337	0.203;0.776;0.565;0.565	B;B;B;B	0.43052	0.061;0.406;0.284;0.284	T	0.00785	-1.1567	10	0.27785	T	0.31	.	13.6832	0.62499	0.0:0.9266:0.0:0.0734	.	2326;2365;2365;2365	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	L	2365;2326;2365;2365	ENSP00000365821:P2365L;ENSP00000365823:P2326L;ENSP00000353422:P2365L;ENSP00000349985:P2365L	ENSP00000349985:P2365L	P	+	2	0	VPS13A	79148956	0.627000	0.27129	0.998000	0.56505	0.917000	0.54804	2.658000	0.46733	2.830000	0.97506	0.585000	0.79938	CCT		0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2		NM_015186		15	57	0	0	0	0.038395	0	15	57		
FKBP15	23307	broad.mit.edu	37	9	115950730	115950730	+	Silent	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:115950730A>G	ENST00000238256.3	-	13	1332	c.1215T>C	c.(1213-1215)acT>acC	p.T405T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	405					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGACGGACGGAGTCACCACAG	0.567																																						uc004bgs.2		NaN																	0				ovary(3)	3						c.(1213-1215)ACT>ACC		FK506 binding protein 15, 133kDa							66.0	69.0	68.0					9																	115950730		2088	4223	6311	SO:0001819	synonymous_variant	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115950730A>G	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1215T>C	9.37:g.115950730A>G						FKBP15_uc010muu.1_Silent_p.T469T|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Silent_p.T337T|FKBP15_uc010mut.1_Silent_p.T273T|FKBP15_uc004bgt.2_Silent_p.T405T	p.T405T	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN			13	1333	-			405					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	c.1215T>C	CCDS48007.1																																																																																				0.567	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_015258		9	53	0	0	0	0.069234	0	9	53		
SURF1	6834	broad.mit.edu	37	9	136220672	136220672	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:136220672G>A	ENST00000371974.3	-	5	478	c.447C>T	c.(445-447)ggC>ggT	p.G149G	SNORD36C_ENST00000516733.1_RNA|SURF1_ENST00000495952.1_5'UTR|SURF2_ENST00000371964.4_5'Flank	NM_001280787.1|NM_003172.2	NP_001267716.1|NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1	149					aerobic respiration (GO:0009060)|ATP biosynthetic process (GO:0006754)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory chain complex IV assembly (GO:0008535)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		AGATGAGGCCGCCCTCCCGGG	0.612																																						uc004cdh.1		NaN																	0				breast(2)	2						c.(445-447)GGC>GGT		surfeit 1							109.0	121.0	117.0					9																	136220672		2203	4300	6503	SO:0001819	synonymous_variant	6834				aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr9:136220672G>A		CCDS6966.1, CCDS75928.1	9q33-q34	2012-10-12			ENSG00000148290	ENSG00000148290		"""Mitochondrial respiratory chain complex assembly factors"""	11474	protein-coding gene	gene with protein product	"""surfeit locus protein 1"""	185620				8499913, 9843204	Standard	NM_003172		Approved		uc004cdh.1	Q15526	OTTHUMG00000020866	ENST00000371974.3:c.447C>T	9.37:g.136220672G>A						SURF1_uc004cdg.1_Silent_p.G40G|SURF2_uc004cdi.2_5'Flank	p.G149G	NM_003172	NP_003163	Q15526	SURF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)	5	479	-			149					Q5T8T3|Q5T8T4	Silent	SNP	ENST00000371974.3	37	c.447C>T	CCDS6966.1																																																																																				0.612	SURF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054879.1		NM_003172		4	159	0	0	0	0.009096	0	4	159		
RXRA	6256	broad.mit.edu	37	9	137293529	137293529	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:137293529C>G	ENST00000481739.1	+	2	132	c.80C>G	c.(79-81)tCc>tGc	p.S27C	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	27	Modulating. {ECO:0000250}.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GGGCGAGGCTCCATGGCTGCC	0.662																																						uc004cfb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(79-81)TCC>TGC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						50.0	48.0	49.0					9																	137293529		2203	4297	6500	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137293529C>G	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.80C>G	9.37:g.137293529C>G	ENSP00000419692:p.Ser27Cys					RXRA_uc004cfa.1_Silent_p.L77L	p.S27C	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	2	242	+			27	S->A: Increase in RARA-mediated transcriptional activity.|S->A: Abolishes phosphorylation. No change in increase of RARA-mediated transcriptional activity.		Modulating (By similarity).		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.80C>G	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054498	0.55218	.	.	ENSG00000186350	ENST00000481739	D	0.92911	-3.13	4.21	4.21	0.49690	.	0.456008	0.21324	N	0.076418	D	0.92348	0.7572	L	0.53249	1.67	0.80722	D	1	P	0.36110	0.537	P	0.45829	0.494	D	0.91721	0.5389	10	0.38643	T	0.18	.	16.7383	0.85453	0.0:1.0:0.0:0.0	.	27	P19793	RXRA_HUMAN	C	27	ENSP00000419692:S27C	ENSP00000419692:S27C	S	+	2	0	RXRA	136433350	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	3.403000	0.52615	2.171000	0.68590	0.462000	0.41574	TCC		0.662	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1		NM_002957		25	54	0	0	0	0.0918	0	25	54		
CNKSR2	22866	broad.mit.edu	37	X	21613156	21613156	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:21613156G>A	ENST00000379510.3	+	16	1931	c.1895G>A	c.(1894-1896)cGc>cAc	p.R632H	CNKSR2_ENST00000543067.1_Missense_Mutation_p.R583H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.R632H|CNKSR2_ENST00000425654.2_Missense_Mutation_p.R602H	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	632	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.R632H(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGTGAATGCCGCAAAAAATAG	0.323																																						uc004czx.1		NaN																	1	Substitution - Missense(1)		endometrium(1)	large_intestine(1)|lung(1)	2						c.(1894-1896)CGC>CAC		connector enhancer of kinase suppressor of Ras							52.0	49.0	50.0					X																	21613156		2203	4299	6502	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21613156G>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1895G>A	X.37:g.21613156G>A	ENSP00000368824:p.Arg632His					CNKSR2_uc004czw.2_Missense_Mutation_p.R632H|CNKSR2_uc011mjn.1_Missense_Mutation_p.R583H|CNKSR2_uc011mjo.1_Missense_Mutation_p.R602H|CNKSR2_uc004czy.2_Missense_Mutation_p.R224H	p.R632H	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			16	1931	+			632			PH.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1895G>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972065	0.92919	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	L	0.36672	1.1	0.58432	D	0.999999	D;D;D;D	0.89917	0.971;1.0;1.0;1.0	P;D;D;D	0.97110	0.845;0.995;1.0;0.997	T	0.00880	-1.1529	10	0.40728	T	0.16	0.0972	18.7425	0.91779	0.0:0.0:1.0:0.0	.	602;583;224;632	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	H	602;583;632;632	ENSP00000397906:R602H;ENSP00000444633:R583H;ENSP00000279451:R632H;ENSP00000368824:R632H	ENSP00000279451:R632H	R	+	2	0	CNKSR2	21523077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.377000	0.73145	2.458000	0.83093	0.538000	0.68166	CGC		0.323	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1		NM_014927		8	9	0	0	0	0.058154	0	8	9		
RPGR	6103	broad.mit.edu	37	X	38156638	38156638	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:38156638G>C	ENST00000339363.3	-	11	1480	c.1313C>G	c.(1312-1314)tCt>tGt	p.S438C	RPGR_ENST00000342811.3_Missense_Mutation_p.S438C|RPGR_ENST00000318842.7_Missense_Mutation_p.S438C|RPGR_ENST00000378505.2_Missense_Mutation_p.S438C|RPGR_ENST00000338898.3_Missense_Mutation_p.S438C|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.S376C			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	438					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AAAACAAGCAGAAAGGCCAAG	0.428																																						uc004ded.1		NaN																	0				ovary(1)	1						c.(1312-1314)TCT>TGT		retinitis pigmentosa GTPase regulator isoform C							93.0	81.0	85.0					X																	38156638		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38156638G>C	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1313C>G	X.37:g.38156638G>C	ENSP00000343671:p.Ser438Cys					RPGR_uc004deb.2_Missense_Mutation_p.S438C|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Missense_Mutation_p.S123C	p.S438C	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			11	1481	-			438					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.1313C>G		.	.	.	.	.	.	.	.	.	.	G	13.53	2.264859	0.40095	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T;T	0.54675	0.93;0.65;0.56;1.05;1.02;0.94	4.75	2.92	0.33932	.	0.723654	0.12638	N	0.451590	T	0.58637	0.2136	L	0.39898	1.24	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.962;0.969	T	0.43458	-0.9390	10	0.56958	D	0.05	.	5.631	0.17510	0.1109:0.1954:0.6936:0.0	.	438;438	E9PE28;Q92834-2	.;.	C	438;376;438;438;438;438	ENSP00000343671:S438C;ENSP00000308783:S376C;ENSP00000340208:S438C;ENSP00000322219:S438C;ENSP00000339531:S438C;ENSP00000367766:S438C	ENSP00000308783:S376C	S	-	2	0	RPGR	38041582	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	1.608000	0.36847	0.507000	0.28148	0.596000	0.82720	TCT		0.428	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_000328		10	20	0	0	0	0.069234	0	10	20		
WDR45	11152	broad.mit.edu	37	X	48933234	48933234	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:48933234C>A	ENST00000376372.3	-	8	876	c.695G>T	c.(694-696)cGc>cTc	p.R232L	PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.R232L|WDR45_ENST00000376368.2_Missense_Mutation_p.R233L|WDR45_ENST00000322995.8_Missense_Mutation_p.R243L|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000356463.3_Missense_Mutation_p.R233L|WDR45_ENST00000553851.1_Missense_Mutation_p.R130L|WDR45_ENST00000473974.1_Missense_Mutation_p.R232L|PRAF2_ENST00000376386.3_5'Flank|AF196779.12_ENST00000376358.3_Missense_Mutation_p.R130L|WDR45_ENST00000485908.1_Missense_Mutation_p.R197L|PRAF2_ENST00000491199.1_5'Flank	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	232					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AGTGCCTCGGCGCAGCTCCAC	0.567																																						uc004dmk.1		NaN																	0				ovary(1)	1						c.(694-696)CGC>CTC		WD repeat domain 45 isoform 2							71.0	57.0	62.0					X																	48933234		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933234C>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.695G>T	X.37:g.48933234C>A	ENSP00000365551:p.Arg232Leu					PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Missense_Mutation_p.R130L|WDR45_uc004dmj.1_Missense_Mutation_p.R193L|WDR45_uc004dml.1_Missense_Mutation_p.R233L|WDR45_uc004dmm.1_Missense_Mutation_p.R197L|WDR45_uc010nim.1_Missense_Mutation_p.R232L|WDR45_uc004dmn.1_Missense_Mutation_p.R123L|WDR45_uc004dmo.1_Missense_Mutation_p.R255L|WDR45_uc004dmp.1_Missense_Mutation_p.R233L	p.R232L	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN			8	867	-			232					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.695G>T	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377490	0.82682	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000475977;ENST00000376358	T;T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;0.53;-0.23;-1.27	3.76	3.76	0.43208	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;1.0;0.999;0.999;0.998	D	0.91895	0.5527	10	0.87932	D	0	-11.6862	14.37	0.66833	0.0:1.0:0.0:0.0	.	130;232;243;197;233;232	A6NM71;C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;.;WIPI4_HUMAN	L	130;232;243;233;197;232;233;232;60;130	ENSP00000451962:R130L;ENSP00000365551:R232L;ENSP00000365543:R243L;ENSP00000348848:R233L;ENSP00000419897:R197L;ENSP00000417211:R232L;ENSP00000365546:R233L;ENSP00000379913:R232L;ENSP00000417754:R60L;ENSP00000365536:R130L	ENSP00000365536:R130L	R	-	2	0	AF196779.12;WDR45	48820178	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.277000	0.78572	1.814000	0.52955	0.409000	0.27619	CGC		0.567	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2		NM_007075		7	17	1	0	0.00448238	0.047766	0.00459859	7	17		
PJA1	64219	broad.mit.edu	37	X	68381656	68381656	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:68381656C>T	ENST00000361478.1	-	2	1803	c.1426G>A	c.(1426-1428)Gat>Aat	p.D476N	PJA1_ENST00000374571.4_Missense_Mutation_p.D421N|PJA1_ENST00000374583.1_Missense_Mutation_p.D476N|PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374584.3_Missense_Mutation_p.D288N	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	476					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GAATCATTATCCCCCTCACTG	0.478																																						uc004dxh.2		NaN																	0					0						c.(1426-1428)GAT>AAT		praja 1 isoform a							143.0	138.0	140.0					X																	68381656		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68381656C>T	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1426G>A	X.37:g.68381656C>T	ENSP00000355014:p.Asp476Asn					PJA1_uc011mpi.1_Missense_Mutation_p.D194N|PJA1_uc004dxg.2_Missense_Mutation_p.D288N|PJA1_uc004dxi.2_Missense_Mutation_p.D421N	p.D476N	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	1712	-			476					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.1426G>A	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	c	13.70	2.316135	0.40996	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.05258	3.47;3.47;3.47;3.47	3.38	3.38	0.38709	.	0.251153	0.26646	U	0.023236	T	0.13841	0.0335	L	0.44542	1.39	0.31007	N	0.719647	D;D	0.67145	0.993;0.996	D;D	0.76071	0.984;0.987	T	0.02431	-1.1160	10	0.12766	T	0.61	-10.3412	11.9779	0.53103	0.0:1.0:0.0:0.0	.	476;288	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	N	391;288;476;476;421	ENSP00000363712:D288N;ENSP00000363711:D476N;ENSP00000355014:D476N;ENSP00000363699:D421N	ENSP00000355014:D476N	D	-	1	0	PJA1	68298381	0.997000	0.39634	0.405000	0.26409	0.174000	0.22865	3.977000	0.56874	1.969000	0.57287	0.417000	0.27973	GAT		0.478	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2		NM_145119		4	115	0	0	0	0.021553	0	4	115		
GLA	2717	broad.mit.edu	37	X	100656704	100656704	+	Missense_Mutation	SNP	C	C	G	rs113419388		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:100656704C>G	ENST00000218516.3	-	3	484	c.463G>C	c.(463-465)Gat>Cat	p.D155H	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	155					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GTCTGGGCATCAATGTCGTAG	0.428																																					Colon(193;776 2816 31189 44474)	uc004ehl.1		NaN																	0					0	GRCh37	CM053274	GLA	M	rs113419388	c.(463-465)GAT>CAT		alpha-galactosidase A precursor	Agalsidase beta(DB00103)						157.0	140.0	146.0					X																	100656704		2203	4300	6503	SO:0001583	missense	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100656704C>G	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.463G>C	X.37:g.100656704C>G	ENSP00000218516:p.Asp155His					GLA_uc011mrj.1_Missense_Mutation_p.D155H	p.D155H	NM_000169	NP_000160	P06280	AGAL_HUMAN			3	573	-			155					Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.463G>C	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056110	0.93793	.	.	ENSG00000102393	ENST00000218516	D	0.99940	-8.39	6.06	6.06	0.98353	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99937	0.9972	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95839	0.8864	9	0.87932	D	0	-23.448	19.5104	0.95139	0.0:1.0:0.0:0.0	.	155;155	B4DLT5;P06280	.;AGAL_HUMAN	H	155	ENSP00000218516:D155H	ENSP00000218516:D155H	D	-	1	0	GLA	100543360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.701000	0.84566	2.562000	0.86427	0.600000	0.82982	GAT		0.428	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1				29	42	0	0	0	0.059317	0	29	42		
USP26	83844	broad.mit.edu	37	X	132162154	132162154	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:132162154C>A	ENST00000511190.1	-	6	564	c.95G>T	c.(94-96)aGa>aTa	p.R32I	USP26_ENST00000406273.1_Missense_Mutation_p.R32I|USP26_ENST00000370832.1_Missense_Mutation_p.R32I	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	32					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTTCTTCTTTCTTTCCACTGC	0.368																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1		NaN																	0				lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(94-96)AGA>ATA		ubiquitin-specific protease 26							62.0	63.0	62.0					X																	132162154		2202	4295	6497	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132162154C>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.95G>T	X.37:g.132162154C>A	ENSP00000423390:p.Arg32Ile					USP26_uc011mvf.1_Missense_Mutation_p.R32I	p.R32I	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	565	-	Acute lymphoblastic leukemia(192;0.000127)		32					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.95G>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506702	0.26949	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.57752	0.38;0.38;0.38	4.15	0.501	0.16925	.	1.132140	0.06847	N	0.796726	T	0.49440	0.1557	L	0.39898	1.24	0.09310	N	1	B	0.32543	0.375	B	0.41988	0.372	T	0.51803	-0.8659	10	0.72032	D	0.01	-0.9508	6.3224	0.21225	0.0:0.5423:0.0:0.4577	.	32	Q9BXU7	UBP26_HUMAN	I	32	ENSP00000359869:R32I;ENSP00000423390:R32I;ENSP00000384360:R32I	ENSP00000359869:R32I	R	-	2	0	USP26	131989820	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.754000	0.04787	-0.044000	0.13491	-0.295000	0.09555	AGA		0.368	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1		NM_031907		6	17	1	0	0.00116845	0.021553	0.00121221	6	17		
RIT1	6016	broad.mit.edu	37	1	155874559	155874561	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:155874559_155874561delTCA	ENST00000368323.3	-	4	402_404	c.198_200delTGA	c.(196-201)gatgag>gag	p.D66del	RIT1_ENST00000368322.3_In_Frame_Del_p.D83del|RIT1_ENST00000539040.1_In_Frame_Del_p.D30del	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	66					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			ATTGGCAGGCTCATCATCAATAC	0.409																																						uc001fmh.1		NaN																	0				breast(1)	1						c.(196-201)GATGAG>GAG		Ras-like without CAAX 1																																				SO:0001651	inframe_deletion	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155874559_155874561delTCA	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.198_200delTGA	1.37:g.155874565_155874567delTCA	ENSP00000357306:p.Asp66del					RIT1_uc010pgr.1_In_Frame_Del_p.D30del	p.D66del	NM_006912	NP_008843	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		4	385_387	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		66					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	In_Frame_Del	DEL	ENST00000368323.3	37	c.198_200delTGA	CCDS1123.1																																																																																				0.409	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1		NM_006912		11	100	NaN	NaN	NaN	NaN	NaN	11	100	---	---
WNK1	65125	broad.mit.edu	37	12	970296	970297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:970296_970297insA	ENST00000315939.6	+	7	2381_2382	c.1738_1739insA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000535572.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000537687.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000340908.4_Frame_Shift_Ins_p.E173fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGAGGAGCAAGAAAAAAAAAAG	0.47																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NaN																	1	Unknown(1)		skin(1)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(1738-1740)GAAfs		WNK lysine deficient protein kinase 1																																				SO:0001589	frameshift_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:970296_970297insA	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1748dupA	12.37:g.970306_970306dupA	ENSP00000313059:p.Glu580fs					WNK1_uc001qip.3_Frame_Shift_Ins_p.E580fs|WNK1_uc001qir.3_Frame_Shift_Ins_p.E27fs	p.E580fs	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		7	2245_2246	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		580					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Ins	INS	ENST00000315939.6	37	c.1738_1739insA	CCDS8506.1																																																																																				0.470	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979		7	97	NaN	NaN	NaN	NaN	NaN	7	97	---	---
DUSP6	1848	broad.mit.edu	37	12	89744602	89744603	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:89744602_89744603insG	ENST00000279488.7	-	2	1831_1832	c.600_601insC	c.(598-603)tccaacfs	p.N201fs	DUSP6_ENST00000547291.1_Frame_Shift_Ins_p.N76fs|DUSP6_ENST00000547140.1_5'UTR|DUSP6_ENST00000308385.6_Intron	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	201					cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GGCTGGCTGTTGGACAGCGGAC	0.564																																					Colon(132;3456 5224)	uc001tay.2		NaN																	0					0						c.(598-603)TCCAACfs		dual specificity phosphatase 6 isoform a																																				SO:0001589	frameshift_variant	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89744602_89744603insG	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.601dupC	12.37:g.89744604_89744604dupG	ENSP00000279488:p.Asn201fs					DUSP6_uc001taz.2_Intron	p.S200fs	NM_001946	NP_001937	Q16828	DUS6_HUMAN			2	1080_1081	-			200_201					O75109|Q53Y75|Q9BSH6	Frame_Shift_Ins	INS	ENST00000279488.7	37	c.600_601insC	CCDS9033.1																																																																																				0.564	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2		NM_001946, NM_022652		19	139	NaN	NaN	NaN	NaN	NaN	19	139	---	---
UTP20	27340	broad.mit.edu	37	12	101680157	101680157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:101680157delT	ENST00000261637.4	+	5	559	c.385delT	c.(385-387)tttfs	p.F130fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	130					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTTTCCAGAGTTTTTTTTGAC	0.398																																						uc001tia.1		NaN																	0				ovary(2)|breast(2)	4						c.(385-387)TTTfs		down-regulated in metastasis							226.0	224.0	224.0					12																	101680157		2203	4300	6503	SO:0001589	frameshift_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101680157delT	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.385delT	12.37:g.101680157delT	ENSP00000261637:p.Phe130fs					UTP20_uc009ztz.1_Frame_Shift_Del_p.F129fs	p.F129fs	NM_014503	NP_055318	O75691	UTP20_HUMAN			5	541	+			129					Q9H3H4	Frame_Shift_Del	DEL	ENST00000261637.4	37	c.385delT	CCDS9081.1																																																																																				0.398	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1		NM_014503		8	241	NaN	NaN	NaN	NaN	NaN	8	241	---	---
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626																																						uc002ehy.2		NaN																	0				central_nervous_system(5)|ovary(1)	6						c.(784-786)GAGdel		iroquois homeobox protein 6																																				SO:0001651	inframe_deletion	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362674_55362676delGAG	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.784_786delGAG	16.37:g.55362683_55362685delGAG	ENSP00000290552:p.Glu268del					IRX6_uc002ehx.2_In_Frame_Del_p.E268del	p.E268del	NM_024335	NP_077311	P78412	IRX6_HUMAN			5	1317_1319	+			268					B2RN06|Q7Z2K0	In_Frame_Del	DEL	ENST00000290552.7	37	c.784_786delGAG	CCDS32449.1																																																																																				0.626	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4		NM_024335		7	71	NaN	NaN	NaN	NaN	NaN	7	71	---	---
RBM43	375287	broad.mit.edu	37	2	152108088	152108088	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:152108088delT	ENST00000331426.5	-	4	557	c.406delA	c.(406-408)atcfs	p.I136fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	136							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I136fs*4(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAACTCGGGATTTTTTTTTTC	0.388																																						uc002txh.2		NaN																	1	Deletion - Frameshift(1)		ovary(1)		0						c.(406-408)ATCfs		RNA binding motif protein 43				67,49,4116		3,1,60,6,36,2010	81.0	90.0	87.0			4.3	0.8	2	dbSNP_134	89	115,71,8038		0,1,114,8,54,3935	no	codingComplex	RBM43	NM_198557.2		3,2,174,14,90,5945	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2617,2.741,2.4245			152108088	182,120,12154	2198	4292	6490	SO:0001589	frameshift_variant	375287						nucleotide binding|RNA binding	g.chr2:152108088delT	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.406delA	2.37:g.152108088delT	ENSP00000331211:p.Ile136fs						p.I136fs	NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	554	-			136					B2RMT5	Frame_Shift_Del	DEL	ENST00000331426.5	37	c.406delA	CCDS2191.1																																																																																				0.388	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2		NM_198557		7	103	NaN	NaN	NaN	NaN	NaN	7	103	---	---
COL18A1	80781	broad.mit.edu	37	21	46913126	46913126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:46913126delC	ENST00000359759.4	+	24	3530	c.3509delC	c.(3508-3510)tccfs	p.S1170fs	COL18A1_ENST00000400337.2_Frame_Shift_Del_p.S755fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.S935fs|COL18A1_ENST00000459895.1_3'UTR			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1170	Triple-helical region 5 (COL5).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAACGAGGCTCCCCGGGACCC	0.672																																						uc011afs.1		NaN																	0				central_nervous_system(1)	1						c.(3508-3510)TCCfs		alpha 1 type XVIII collagen isoform 3 precursor							19.0	26.0	24.0					21																	46913126		1931	4087	6018	SO:0001589	frameshift_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46913126delC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3509delC	21.37:g.46913126delC	ENSP00000352798:p.Ser1170fs					COL18A1_uc002zhg.2_Frame_Shift_Del_p.S755fs|COL18A1_uc002zhi.2_Frame_Shift_Del_p.S935fs	p.S1170fs	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	24	3530	+			1170			Triple-helical region 5 (COL5).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Del	DEL	ENST00000359759.4	37	c.3509delC																																																																																					0.672	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1				2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
FAT1	2195	broad.mit.edu	37	4	187557747	187557747	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:187557747delT	ENST00000441802.2	-	5	4173	c.3964delA	c.(3964-3966)attfs	p.I1322fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1322	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGAAAGAATATCATATTCT	0.338										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3964-3966)ATTfs		FAT tumor suppressor 1 precursor							170.0	171.0	171.0					4																	187557747		1849	4092	5941	SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187557747delT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3964delA	4.37:g.187557747delT	ENSP00000406229:p.Ile1322fs	HNSCC(5;0.00058)					p.I1322fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			5	4152	-			1322			Extracellular (Potential).|Cadherin 11.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.3964delA	CCDS47177.1																																																																																				0.338	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		14	300	NaN	NaN	NaN	NaN	NaN	14	300	---	---
RHOBTB3	22836	broad.mit.edu	37	5	95116086	95116086	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:95116086delC	ENST00000379982.3	+	9	1921	c.1413delC	c.(1411-1413)ttcfs	p.F471fs	GLRX_ENST00000507605.1_5'Flank|GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Frame_Shift_Del_p.F102fs	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	471	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Interaction with Rab9.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAGAGACTTTCTTGTCATTTT	0.418																																						uc003klm.2		NaN																	0				lung(1)|skin(1)	2						c.(1411-1413)TTCfs		rho-related BTB domain containing 3							115.0	109.0	111.0					5																	95116086		2203	4300	6503	SO:0001589	frameshift_variant	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95116086delC	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1413delC	5.37:g.95116086delC	ENSP00000369318:p.Phe471fs						p.F471fs	NM_014899	NP_055714	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	9	1950	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	471			BTB 2.|Interaction with Rab9.		A0PJA4|A8K1W9|Q8IW06	Frame_Shift_Del	DEL	ENST00000379982.3	37	c.1413delC	CCDS4077.1																																																																																				0.418	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1		NM_014899		20	73	NaN	NaN	NaN	NaN	NaN	20	73	---	---
