#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	45	0	0	0	1	0	5	45				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	20	0	0	0	1	0	27	20				
ATAD5	79915	broad.mit.edu	37	17	29195371	29195371	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:29195371G>C	ENST00000321990.4	+	12	3632	c.3254G>C	c.(3253-3255)aGa>aCa	p.R1085T		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1085					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GACTGGAAAAGAAGAGCTGAA	0.328																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3253-3255)aGa>aCa		ATPase family, AAA domain containing 5							87.0	92.0	91.0					17																	29195371		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29195371G>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3254G>C	17.37:g.29195371G>C	ENSP00000313171:p.Arg1085Thr						p.R1085T	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			12	3632	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1085					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3254G>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570443	0.28003	.	.	ENSG00000176208	ENST00000321990	T	0.06218	3.33	5.42	3.44	0.39384	.	0.376666	0.30428	N	0.009641	T	0.05044	0.0135	L	0.41415	1.275	0.29508	N	0.854413	B;B	0.23854	0.042;0.092	B;B	0.16722	0.016;0.012	T	0.18429	-1.0337	10	0.29301	T	0.29	.	5.0338	0.14423	0.2234:0.0:0.6211:0.1555	.	1085;1085	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	T	1085	ENSP00000313171:R1085T	ENSP00000313171:R1085T	R	+	2	0	ATAD5	26219497	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.728000	0.26013	1.280000	0.44463	0.655000	0.94253	AGA		0.328	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		9	30	0	0	0	1	0	9	30				
PEX26	55670	broad.mit.edu	37	22	18570817	18570817	+	Silent	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr22:18570817C>G	ENST00000329627.7	+	6	1100	c.894C>G	c.(892-894)ctC>ctG	p.L298L	PEX26_ENST00000428061.2_Silent_p.L249L|PEX26_ENST00000399744.3_Silent_p.L298L	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	298					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTTCTCGCCTCTACCAGCTCC	0.617																																						ENST00000329627.6																			0				breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(892-894)ctC>ctG		peroxisomal biogenesis factor 26							176.0	144.0	154.0					22																	18570817		2203	4300	6503	SO:0001819	synonymous_variant	55670				protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding	g.chr22:18570817C>G	AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.894C>G	22.37:g.18570817C>G						PEX26_ENST00000428061.2_Silent_p.L249L|PEX26_ENST00000399744.3_Silent_p.L298L	p.L298L	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN			6	1100	+			298					F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Silent	SNP	ENST00000329627.7	37	c.894C>G	CCDS13750.1	.	.	.	.	.	.	.	.	.	.	C	3.151	-0.174275	0.06421	.	.	ENSG00000215193	ENST00000399746	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	T	0.76463	0.3991	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77933	-0.2402	5	0.59425	D	0.04	1.4445	16.8194	0.85742	0.0:1.0:0.0:0.0	.	.	.	.	C	298	.	ENSP00000382650:S298C	S	+	2	0	PEX26	16950817	0.062000	0.20869	0.845000	0.33349	0.340000	0.28889	1.582000	0.36568	2.649000	0.89929	0.555000	0.69702	TCT		0.617	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3	NM_017929		15	114	0	0	0	1	0	15	114				
CNTNAP4	85445	broad.mit.edu	37	16	76556067	76556067	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:76556067C>T	ENST00000476707.1	+	16	2816	c.2677C>T	c.(2677-2679)Ctt>Ttt	p.L893F	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.L889F|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L841F|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L817F			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	890	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAGGCCTCCCTTCAAGTGGA	0.537																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2665-2667)Ctt>Ttt		contactin associated protein-like 4							113.0	113.0	113.0					16																	76556067		2057	4221	6278	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76556067C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2677C>T	16.37:g.76556067C>T	ENSP00000417628:p.Leu893Phe					CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L841F|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L893F|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L817F	p.L889F	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			18	3050	+			890			Laminin G-like 3.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2665C>T		.	.	.	.	.	.	.	.	.	.	C	12.75	2.033070	0.35893	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	4.87	-7.35	0.01422	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.982343	0.08256	N	0.973850	D	0.89763	0.6809	.	.	.	0.20196	N	0.99992	D;P;P	0.59357	0.985;0.801;0.845	D;P;P	0.70016	0.967;0.787;0.724	D	0.84108	0.0399	9	0.87932	D	0	.	7.4097	0.27011	0.1362:0.5933:0.1542:0.1163	.	817;893;890	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	F	889;841;817;893	ENSP00000306893:L889F;ENSP00000439733:L841F;ENSP00000418741:L817F;ENSP00000417628:L893F	ENSP00000306893:L889F	L	+	1	0	CNTNAP4	75113568	0.021000	0.18746	0.000000	0.03702	0.045000	0.14185	0.512000	0.22755	-0.932000	0.03742	-1.321000	0.01291	CTT		0.537	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		36	69	0	0	0	1	0	36	69				
MICALL1	85377	broad.mit.edu	37	22	38336828	38336828	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr22:38336828C>T	ENST00000215957.6	+	16	2709	c.2583C>T	c.(2581-2583)gaC>gaT	p.D861D	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	861	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CCCCCAGAGACAAGAGCTAAC	0.562																																						ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(2581-2583)gaC>gaT		MICAL-like 1							122.0	101.0	108.0					22																	38336828		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38336828C>T	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2583C>T	22.37:g.38336828C>T						MICALL1_ENST00000402631.1_3'UTR	p.D861D	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			16	2709	+	Melanoma(58;0.045)		861					Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.2583C>T	CCDS13961.1																																																																																				0.562	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		8	39	0	0	0	1	0	8	39				
MYH13	8735	broad.mit.edu	37	17	10222295	10222295	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:10222295C>T	ENST00000418404.3	-	26	3713	c.3550G>A	c.(3550-3552)Gag>Aag	p.E1184K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1184K|RP11-401O9.4_ENST00000609088.1_RNA|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1184					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGGTGGCCTCCTCCAGGTCC	0.592																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(3550-3552)Gag>Aag		myosin, heavy chain 13, skeletal muscle							116.0	117.0	117.0					17																	10222295		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10222295C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3550G>A	17.37:g.10222295C>T	ENSP00000404570:p.Glu1184Lys					MYH13_ENST00000252172.4_Missense_Mutation_p.E1184K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1184K	p.E1184K			Q9UKX3	MYH13_HUMAN			26	3713	-			1184					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.3550G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019922	0.93462	.	.	ENSG00000006788	ENST00000252172	D	0.89485	-2.52	4.05	4.05	0.47172	Myosin tail (1);	.	.	.	.	D	0.96602	0.8891	H	0.97874	4.095	0.48341	D	0.999633	P	0.48694	0.914	D	0.67548	0.952	D	0.98352	1.0544	9	0.87932	D	0	.	16.7633	0.85517	0.0:1.0:0.0:0.0	.	1184	Q9UKX3	MYH13_HUMAN	K	1184	ENSP00000252172:E1184K	ENSP00000252172:E1184K	E	-	1	0	MYH13	10163020	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.582000	0.82546	2.236000	0.73375	0.591000	0.81541	GAG		0.592	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		14	118	0	0	0	1	0	14	118				
TIGD4	201798	broad.mit.edu	37	4	153691315	153691315	+	Missense_Mutation	SNP	C	C	T	rs376645211		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:153691315C>T	ENST00000304337.2	-	2	1662	c.842G>A	c.(841-843)cGa>cAa	p.R281Q		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	281	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CACCACTCTTCGTTGCTGGGC	0.403																																						ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(841-843)cGa>cAa		tigger transposable element derived 4		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	129.0	136.0	134.0		842	6.0	1.0	4		134	0,8598		0,0,4299	no	missense	TIGD4	NM_145720.3	43	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	281/513	153691315	1,13003	2203	4299	6502	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691315C>T	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.842G>A	4.37:g.153691315C>T	ENSP00000355162:p.Arg281Gln						p.R281Q	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1662	-	all_hematologic(180;0.093)		281			DDE.		Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.842G>A	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693381	0.48202	2.27E-4	0.0	ENSG00000169989	ENST00000304337	T	0.48836	0.8	6.03	6.03	0.97812	.	0.000000	0.41097	D	0.000946	T	0.66076	0.2753	M	0.72576	2.205	0.33162	D	0.547174	D	0.89917	1.0	D	0.72982	0.979	T	0.73379	-0.4001	10	0.44086	T	0.13	-10.9232	13.3889	0.60811	0.0:0.9279:0.0:0.0721	.	281	Q8IY51	TIGD4_HUMAN	Q	281	ENSP00000355162:R281Q	ENSP00000355162:R281Q	R	-	2	0	TIGD4	153910765	0.997000	0.39634	0.999000	0.59377	0.978000	0.69477	2.943000	0.49026	2.861000	0.98227	0.655000	0.94253	CGA		0.403	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		7	101	0	0	0	1	0	7	101				
DHTKD1	55526	broad.mit.edu	37	10	12160760	12160760	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr10:12160760C>T	ENST00000263035.4	+	15	2477	c.2415C>T	c.(2413-2415)ctC>ctT	p.L805L	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	805					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTAAGACCCTCGTGTTCTGCT	0.473																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2413-2415)ctC>ctT		dehydrogenase E1 and transketolase domain containing 1							153.0	168.0	163.0					10																	12160760		2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12160760C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2415C>T	10.37:g.12160760C>T							p.L805L	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		15	2477	+		Renal(717;0.228)	805					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.2415C>T	CCDS7087.1																																																																																				0.473	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		70	154	0	0	0	1	0	70	154				
TTI1	9675	broad.mit.edu	37	20	36639940	36639940	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr20:36639940A>T	ENST00000373448.2	-	3	2517	c.2279T>A	c.(2278-2280)cTg>cAg	p.L760Q	TTI1_ENST00000487362.1_5'Flank|TTI1_ENST00000373447.3_Missense_Mutation_p.L760Q|TTI1_ENST00000449821.1_Missense_Mutation_p.L760Q	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	760					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CAGAGCATGCAGAACGCTGAC	0.478																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2278-2280)cTg>cAg		TELO2 interacting protein 1							59.0	53.0	55.0					20																	36639940		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36639940A>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2279T>A	20.37:g.36639940A>T	ENSP00000362547:p.Leu760Gln					TTI1_ENST00000373447.3_Missense_Mutation_p.L760Q|TTI1_ENST00000449821.1_Missense_Mutation_p.L760Q	p.L760Q	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	2517	-			760					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.2279T>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380337	0.61845	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.76060	-0.99;-0.99;-0.99	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85155	0.5632	M	0.77103	2.36	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	D	0.86901	0.2054	10	0.72032	D	0.01	-10.1053	12.7161	0.57115	1.0:0.0:0.0:0.0	.	760	O43156	TTI1_HUMAN	Q	760	ENSP00000362547:L760Q;ENSP00000362546:L760Q;ENSP00000407270:L760Q	ENSP00000362546:L760Q	L	-	2	0	TTI1	36073354	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.788000	0.69020	2.123000	0.65237	0.528000	0.53228	CTG		0.478	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		10	18	0	0	0	1	0	10	18				
LTV1	84946	broad.mit.edu	37	6	144178465	144178465	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:144178465C>T	ENST00000367576.5	+	5	557	c.423C>T	c.(421-423)gaC>gaT	p.D141D		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	141	Asp-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TTGATCCTGACATTGTTGCAG	0.378																																						ENST00000367576.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13						c.(421-423)gaC>gaT		LTV1 homolog (S. cerevisiae)							303.0	300.0	301.0					6																	144178465		2203	4300	6503	SO:0001819	synonymous_variant	84946							g.chr6:144178465C>T	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.423C>T	6.37:g.144178465C>T							p.D141D	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)	5	557	+			141			Asp-rich.		Q96JX8	Silent	SNP	ENST00000367576.5	37	c.423C>T	CCDS5201.1																																																																																				0.378	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860		11	260	0	0	0	1	0	11	260				
ZKSCAN7	55888	broad.mit.edu	37	3	44612534	44612534	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:44612534C>T	ENST00000273320.3	+	6	2361	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Silent_p.F644F|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	644					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)										GAAAATCCTTCAATCAAAACT	0.418																																						ENST00000273320.3																			0											c.(1930-1932)ttC>ttT		zinc finger with KRAB and SCAN domains 7							64.0	67.0	66.0					3																	44612534		2203	4300	6503	SO:0001819	synonymous_variant	55888							g.chr3:44612534C>T	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1932C>T	3.37:g.44612534C>T						ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.F644F	p.F644F	NM_018651.2	NP_061121.2					6	2361	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	ENST00000273320.3	37	c.1932C>T	CCDS2715.1																																																																																				0.418	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		21	24	0	0	0	1	0	21	24				
ABCC10	89845	broad.mit.edu	37	6	43400430	43400430	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:43400430T>A	ENST00000372530.4	+	3	927	c.712T>A	c.(712-714)Tgt>Agt	p.C238S	ABCC10_ENST00000244533.3_Missense_Mutation_p.C195S|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	238					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CCGTGGGGCCTGTGGAGAGCT	0.642																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(583-585)Tgt>Agt		ATP-binding cassette, sub-family C (CFTR/MRP), member 10																																				SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400430T>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.712T>A	6.37:g.43400430T>A	ENSP00000361608:p.Cys238Ser					ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.C238S	p.C195S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	942	+	all_lung(25;0.00536)		238					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.583T>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	T	9.114	1.007316	0.19199	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.89810	-2.56;-2.57	5.54	1.62	0.23740	.	0.465982	0.23364	N	0.048999	T	0.61590	0.2359	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.09377	0.001;0.004	T	0.56426	-0.7981	10	0.59425	D	0.04	-32.0395	11.5688	0.50822	0.0:0.8971:0.0:0.1029	.	195;238	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	S	238;195	ENSP00000361608:C238S;ENSP00000244533:C195S	ENSP00000244533:C195S	C	+	1	0	ABCC10	43508408	0.631000	0.27164	0.943000	0.38184	0.937000	0.57800	1.875000	0.39578	0.005000	0.14708	-0.441000	0.05720	TGT		0.642	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		5	94	0	0	0	1	0	5	94				
FBXO33	254170	broad.mit.edu	37	14	39870602	39870602	+	Missense_Mutation	SNP	T	T	C	rs372862832		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:39870602T>C	ENST00000298097.7	-	3	1511	c.1174A>G	c.(1174-1176)Ata>Gta	p.I392V	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	392					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TCTAGTGGTATACTGGGTTTC	0.388																																						ENST00000298097.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9						c.(1174-1176)Ata>Gta		F-box protein 33							97.0	93.0	94.0					14																	39870602		2203	4300	6503	SO:0001583	missense	254170							g.chr14:39870602T>C	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.1174A>G	14.37:g.39870602T>C	ENSP00000298097:p.Ile392Val					FBXO33_ENST00000554190.1_Intron	p.I392V	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	3	1511	-	Hepatocellular(127;0.213)		392					Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	ENST00000298097.7	37	c.1174A>G	CCDS9677.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.486097	0.26686	.	.	ENSG00000165355	ENST00000298097	T	0.33216	1.42	5.76	4.61	0.57282	.	0.046000	0.85682	D	0.000000	T	0.18341	0.0440	N	0.16478	0.41	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.05289	-1.0894	9	.	.	.	-7.3987	11.7622	0.51910	0.0:0.0689:0.0:0.9311	.	392	Q7Z6M2	FBX33_HUMAN	V	392	ENSP00000298097:I392V	.	I	-	1	0	FBXO33	38940353	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.622000	0.61240	1.003000	0.39130	0.482000	0.46254	ATA		0.388	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2			18	49	0	0	0	1	0	18	49				
HIST1H2AH	85235	broad.mit.edu	37	6	27114996	27114996	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:27114996G>A	ENST00000377459.1	+	1	136	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	HIST1H2BK_ENST00000396891.4_5'Flank|HIST1H2BK_ENST00000356950.1_5'Flank|MIR3143_ENST00000584253.1_RNA	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	30						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						CCCGTGGGCCGAGTGCACCGC	0.642																																						ENST00000377459.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						c.(88-90)cGa>cAa		histone cluster 1, H2ah							48.0	54.0	52.0					6																	27114996		2203	4300	6503	SO:0001583	missense	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114996G>A	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.89G>A	6.37:g.27114996G>A	ENSP00000366679:p.Arg30Gln						p.R30Q	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN			1	136	+			30						Missense_Mutation	SNP	ENST00000377459.1	37	c.89G>A	CCDS4622.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949233	0.53186	.	.	ENSG00000184825	ENST00000377459	D	0.85013	-1.93	3.95	3.95	0.45737	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.36778	N	0.002402	D	0.93893	0.8046	H	0.96489	3.83	0.41241	D	0.986641	D	0.89917	1.0	D	0.97110	1.0	D	0.95486	0.8565	10	0.87932	D	0	.	14.3093	0.66405	0.0:0.0:1.0:0.0	.	30	Q96KK5	H2A1H_HUMAN	Q	30	ENSP00000366679:R30Q	ENSP00000366679:R30Q	R	+	2	0	HIST1H2AH	27222975	1.000000	0.71417	0.929000	0.37066	0.007000	0.05969	8.799000	0.91895	2.142000	0.66516	0.655000	0.94253	CGA		0.642	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		5	79	0	0	0	1	0	5	79				
GEN1	348654	broad.mit.edu	37	2	17962391	17962391	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:17962391A>G	ENST00000381254.2	+	14	2126	c.1912A>G	c.(1912-1914)Agg>Ggg	p.R638G	GEN1_ENST00000317402.7_Missense_Mutation_p.R638G|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	638					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGAATCAGAAAGGTACACTGC	0.383								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1912-1914)Agg>Ggg	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							66.0	65.0	66.0					2																	17962391		2203	4300	6503	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17962391A>G	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1912A>G	2.37:g.17962391A>G	ENSP00000370653:p.Arg638Gly					SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.R638G	p.R638G	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			14	2126	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		638					Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.1912A>G	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	A	7.412	0.634973	0.14322	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	T;T	0.26810	1.71;1.71	5.41	-8.07	0.01098	.	1.968210	0.02314	N	0.072414	T	0.15652	0.0377	L	0.36672	1.1	0.09310	N	1	B	0.21071	0.051	B	0.16722	0.016	T	0.18209	-1.0344	10	0.49607	T	0.09	-6.7897	1.964	0.03392	0.3675:0.2943:0.0771:0.261	.	638	Q17RS7	GEN_HUMAN	G	638;638;275	ENSP00000318977:R638G;ENSP00000370653:R638G	ENSP00000318977:R638G	R	+	1	2	GEN1	17825872	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.312000	0.02720	-1.236000	0.02542	0.533000	0.62120	AGG		0.383	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		11	48	0	0	0	1	0	11	48				
COBLL1	22837	broad.mit.edu	37	2	165552193	165552193	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:165552193G>C	ENST00000392717.2	-	13	1941	c.1937C>G	c.(1936-1938)aCt>aGt	p.T646S	COBLL1_ENST00000194871.6_Missense_Mutation_p.T675S|COBLL1_ENST00000409184.3_Missense_Mutation_p.T608S|COBLL1_ENST00000342193.4_Missense_Mutation_p.T608S|COBLL1_ENST00000375458.2_Missense_Mutation_p.T570S			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	646						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGCAGTATCAGTTTCATGTGC	0.378																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(1708-1710)aCt>aGt		cordon-bleu WH2 repeat protein-like 1							259.0	253.0	255.0					2																	165552193		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165552193G>C	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1937C>G	2.37:g.165552193G>C	ENSP00000376478:p.Thr646Ser					COBLL1_ENST00000342193.4_Missense_Mutation_p.T608S|COBLL1_ENST00000392717.2_Missense_Mutation_p.T646S|COBLL1_ENST00000194871.6_Missense_Mutation_p.T675S|COBLL1_ENST00000409184.3_Missense_Mutation_p.T608S	p.T570S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	1930	-			646					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.1709C>G		.	.	.	.	.	.	.	.	.	.	G	2.791	-0.251271	0.05867	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.63	-0.251	0.13003	.	0.510981	0.19664	N	0.108901	T	0.22704	0.0548	L	0.47716	1.5	0.20926	N	0.999827	B;B;B	0.21147	0.031;0.031;0.052	B;B;B	0.16289	0.006;0.007;0.015	T	0.19811	-1.0294	9	0.06365	T	0.9	-2.4292	1.1846	0.01852	0.1932:0.3362:0.2423:0.2283	.	646;675;608	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	S	570;608;608;646;675	.	ENSP00000194871:T675S	T	-	2	0	COBLL1	165260439	1.000000	0.71417	0.016000	0.15963	0.010000	0.07245	0.962000	0.29280	0.022000	0.15160	0.655000	0.94253	ACT		0.378	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		71	196	0	0	0	1	0	71	196				
NLRP10	338322	broad.mit.edu	37	11	7981899	7981899	+	Silent	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:7981899C>A	ENST00000328600.2	-	2	1421	c.1260G>T	c.(1258-1260)ggG>ggT	p.G420G		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	420	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTGCTGAATCCCTTCAGCTG	0.542																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1258-1260)ggG>ggT		NLR family, pyrin domain containing 10							55.0	59.0	58.0					11																	7981899		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7981899C>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1260G>T	11.37:g.7981899C>A							p.G420G	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1421	-			420			NACHT.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.1260G>T	CCDS7784.1																																																																																				0.542	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		13	63	1	0	7.03913e-09	1	7.65569e-09	13	63				
SEPT11	55752	broad.mit.edu	37	4	77940386	77940386	+	Silent	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:77940386C>A	ENST00000264893.6	+	6	957	c.756C>A	c.(754-756)gcC>gcA	p.A252A	SEPT11_ENST00000510515.1_Silent_p.A262A|SEPT11_ENST00000541121.1_Silent_p.A262A|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000502584.1_Silent_p.A252A|SEPT11_ENST00000505788.1_Silent_p.A252A	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	252	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TGGCAAAGGCCAGGCAGTACC	0.502																																						ENST00000264893.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						c.(754-756)gcC>gcA		septin 11							121.0	100.0	107.0					4																	77940386		2203	4300	6503	SO:0001819	synonymous_variant	55752				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	g.chr4:77940386C>A	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.756C>A	4.37:g.77940386C>A						SEPT11_ENST00000502584.1_Silent_p.A252A|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000541121.1_Silent_p.A262A|SEPT11_ENST00000510515.1_Silent_p.A262A|SEPT11_ENST00000505788.1_Silent_p.A252A	p.A252A	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN			6	957	+			252					B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Silent	SNP	ENST00000264893.6	37	c.756C>A	CCDS34018.1																																																																																				0.502	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243		3	7	1	0	0.150653	1	0.150653	3	7				
CCDC91	55297	broad.mit.edu	37	12	28459840	28459840	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:28459840C>A	ENST00000545336.1	+	8	852	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	CCDC91_ENST00000381259.1_Missense_Mutation_p.L145I|CCDC91_ENST00000539107.1_Missense_Mutation_p.L145I|CCDC91_ENST00000306172.5_Missense_Mutation_p.L115I|CCDC91_ENST00000381256.1_Missense_Mutation_p.L145I|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	145					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GGAGATTAAACTCAAAGTATC	0.318																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(433-435)Ctc>Atc		coiled-coil domain containing 91							53.0	56.0	55.0					12																	28459840		2203	4299	6502	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28459840C>A	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.433C>A	12.37:g.28459840C>A	ENSP00000438040:p.Leu145Ile					CCDC91_ENST00000381256.1_Missense_Mutation_p.L145I|CCDC91_ENST00000539107.1_Missense_Mutation_p.L145I|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.L115I|CCDC91_ENST00000381259.1_Missense_Mutation_p.L145I	p.L145I			Q7Z6B0	CCD91_HUMAN			8	852	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		145					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.433C>A	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958370	0.74016	.	.	ENSG00000123106	ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.64085	0.94;0.12;0.05;0.12;0.05;0.94;-0.08	5.52	5.52	0.82312	.	0.000000	0.52532	D	0.000062	T	0.66839	0.2830	L	0.27053	0.805	0.31443	N	0.67175	D;D	0.67145	0.996;0.996	D;D	0.79108	0.986;0.992	T	0.65421	-0.6172	10	0.23891	T	0.37	-4.2201	14.9426	0.71006	0.0:1.0:0.0:0.0	.	145;115	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	I	145;145;145;145;145;145;115	ENSP00000440513:L145I;ENSP00000445660:L145I;ENSP00000438040:L145I;ENSP00000442544:L145I;ENSP00000370658:L145I;ENSP00000370655:L145I;ENSP00000305075:L115I	ENSP00000305075:L115I	L	+	1	0	CCDC91	28351107	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.169000	0.58223	2.578000	0.87016	0.650000	0.86243	CTC		0.318	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		9	48	1	0	1.12685e-05	1	1.19079e-05	9	48				
RAX	30062	broad.mit.edu	37	18	56939749	56939749	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:56939749C>G	ENST00000334889.3	-	2	573	c.387G>C	c.(385-387)gaG>gaC	p.E129D	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	129					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	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)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		TGGGCTGTTCCTCCTCTGACA	0.667																																					GBM(150;770 1898 17679 24325 37807)	ENST00000334889.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(385-387)gaG>gaC		retina and anterior neural fold homeobox							118.0	117.0	117.0					18																	56939749		2203	4300	6503	SO:0001583	missense	30062				visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr18:56939749C>G	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"""Homeoboxes / PRD class"""	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.387G>C	18.37:g.56939749C>G	ENSP00000334813:p.Glu129Asp					RAX_ENST00000256852.7_Intron	p.E129D	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN		STAD - Stomach adenocarcinoma(84;0.18)	2	573	-		Lung NSC(161;0.0804)|Colorectal(73;0.0946)	129					Q86V11	Missense_Mutation	SNP	ENST00000334889.3	37	c.387G>C	CCDS11972.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663350	0.47572	.	.	ENSG00000134438	ENST00000334889	D	0.88046	-2.33	6.04	1.03	0.20045	Homeodomain-like (1);	0.095325	0.64402	N	0.000001	T	0.70141	0.3190	L	0.34521	1.04	0.38896	D	0.957214	B	0.31599	0.33	B	0.30855	0.121	T	0.62163	-0.6912	10	0.02654	T	1	.	0.8962	0.01264	0.2369:0.3318:0.2315:0.1999	.	129	Q9Y2V3	RX_HUMAN	D	129	ENSP00000334813:E129D	ENSP00000334813:E129D	E	-	3	2	RAX	55090729	0.756000	0.28383	0.999000	0.59377	0.941000	0.58515	-0.081000	0.11321	0.113000	0.18004	0.561000	0.74099	GAG		0.667	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			16	61	0	0	0	1	0	16	61				
WNK1	65125	broad.mit.edu	37	12	960882	960882	+	Intron	SNP	T	T	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:960882T>A	ENST00000315939.6	+	5	1954				WNK1_ENST00000340908.4_Missense_Mutation_p.F8L|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000540360.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						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)			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)			AGAAAGATTTTTGCTCAGTAT	0.338																																					Colon(19;451 567 6672 12618 28860)	ENST00000340908.4																			0				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						c.(22-24)ttT>ttA		WNK lysine deficient protein kinase 1							21.0	22.0	22.0					12																	960882		875	1991	2866	SO:0001627	intron_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.chr12:960882T>A	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.1312-5445T>A	12.37:g.960882T>A						WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000540360.1_Intron	p.F8L			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)		1	24	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		0					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.24T>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250522	0.59212	.	.	ENSG00000060237	ENST00000340908	T	0.45668	0.89	5.52	1.86	0.25419	.	.	.	.	.	T	0.42471	0.1204	.	.	.	0.23120	N	0.998269	.	.	.	.	.	.	T	0.35649	-0.9780	6	0.72032	D	0.01	.	7.6991	0.28613	0.0:0.3837:0.0:0.6163	.	.	.	.	L	8	ENSP00000341292:F8L	ENSP00000341292:F8L	F	+	3	2	WNK1	831143	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.502000	0.22594	0.459000	0.27016	0.482000	0.46254	TTT		0.338	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		6	16	0	0	0	1	0	6	16				
EGLN3	112399	broad.mit.edu	37	14	34419917	34419917	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:34419917A>C	ENST00000250457.3	-	1	370	c.42T>G	c.(40-42)atT>atG	p.I14M	EGLN3_ENST00000553215.1_Missense_Mutation_p.I14M|EGLN3_ENST00000547327.2_Missense_Mutation_p.I14M	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	14					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	ACTCCAGGGCAATTTTCTCCA	0.617																																					Esophageal Squamous(161;245 1904 13895 22565 30076)	ENST00000547327.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15						c.(40-42)atT>atG		egl-9 family hypoxia-inducible factor 3	Vitamin C(DB00126)						72.0	79.0	76.0					14																	34419917		2203	4300	6503	SO:0001583	missense	112399				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	g.chr14:34419917A>C	AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 3"""	606426	"""EGL nine (C.elegans) homolog 3"", ""egl nine homolog 3 (C. elegans)"""				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.42T>G	14.37:g.34419917A>C	ENSP00000250457:p.Ile14Met					EGLN3_ENST00000250457.3_Missense_Mutation_p.I14M|EGLN3_ENST00000553215.1_Missense_Mutation_p.I14M	p.I14M			Q9H6Z9	EGLN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	1	370	-	Breast(36;0.0303)|Hepatocellular(127;0.133)		14					Q2TA79|Q3B8N4|Q6P1R2	Missense_Mutation	SNP	ENST00000250457.3	37	c.42T>G	CCDS9646.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.523686	0.27299	.	.	ENSG00000129521	ENST00000250457;ENST00000539567;ENST00000553215;ENST00000547327	T;T;T	0.71817	1.96;-0.6;1.96	5.7	1.47	0.22746	.	0.057316	0.64402	D	0.000002	T	0.55081	0.1898	N	0.08118	0	0.35575	D	0.805807	D;B;B	0.56746	0.977;0.004;0.207	P;B;B	0.53649	0.731;0.012;0.05	T	0.58769	-0.7578	10	0.32370	T	0.25	-7.3481	6.67	0.23064	0.1911:0.2309:0.5779:0.0	.	14;14;14	F8VR39;Q9H6Z9;F8W1G2	.;EGLN3_HUMAN;.	M	14	ENSP00000250457:I14M;ENSP00000447470:I14M;ENSP00000446572:I14M	ENSP00000250457:I14M	I	-	3	3	EGLN3	33489668	0.889000	0.30405	1.000000	0.80357	0.963000	0.63663	-0.089000	0.11180	0.319000	0.23209	-0.904000	0.02843	ATT		0.617	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1			23	43	0	0	0	1	0	23	43				
PAPPA2	60676	broad.mit.edu	37	1	176668475	176668475	+	Silent	SNP	C	C	T	rs186830420		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:176668475C>T	ENST00000367662.3	+	8	4150	c.2986C>T	c.(2986-2988)Ctg>Ttg	p.L996L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	996					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTCAGTGCACCTGGGCCCCTT	0.532																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2986-2988)Ctg>Ttg		pappalysin 2							205.0	207.0	206.0					1																	176668475		2136	4249	6385	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668475C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2986C>T	1.37:g.176668475C>T							p.L996L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			8	4150	+			996					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.2986C>T	CCDS41438.1																																																																																				0.532	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			76	138	0	0	0	1	0	76	138				
PBLD	64081	broad.mit.edu	37	10	70045062	70045062	+	Intron	SNP	G	G	A	rs373206447		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr10:70045062G>A	ENST00000358769.2	-	9	957				PBLD_ENST00000336578.1_Intron|PBLD_ENST00000309049.4_Intron|PBLD_ENST00000432941.1_Missense_Mutation_p.S266L|PBLD_ENST00000495025.2_Missense_Mutation_p.S266L	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing						biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CACTAGCTTCGAATTAGGCAA	0.398																																						ENST00000432941.1																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(796-798)tCg>tTg		phenazine biosynthesis-like protein domain containing		G	LEU/SER,	1,4405	2.1+/-5.4	0,1,2202	77.0	81.0	80.0		797,	-2.2	0.0	10		80	0,8600		0,0,4300	no	missense,intron	PBLD	NM_001033083.1,NM_022129.3	145,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	266/281,	70045062	1,13005	2203	4300	6503	SO:0001627	intron_variant	64081				biosynthetic process		isomerase activity	g.chr10:70045062G>A	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.754+42C>T	10.37:g.70045062G>A						PBLD_ENST00000336578.1_Intron|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000358769.2_Intron|PBLD_ENST00000309049.4_Intron	p.S266L	NM_001033083.1	NP_001028255.1	P30039	PBLD_HUMAN			9	999	-			0					A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	c.797C>T	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711956	0.30322	2.27E-4	0.0	ENSG00000108187	ENST00000432941	T	0.47177	0.85	3.96	-2.22	0.06952	.	.	.	.	.	T	0.22975	0.0555	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15838	-1.0423	9	0.49607	T	0.09	.	5.5393	0.17030	0.5342:0.0:0.3348:0.1311	.	266	C9JIM0	.	L	266	ENSP00000395534:S266L	ENSP00000395534:S266L	S	-	2	0	PBLD	69715068	0.003000	0.15002	0.000000	0.03702	0.044000	0.14063	0.585000	0.23879	-0.313000	0.08728	-0.253000	0.11424	TCG		0.398	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		19	34	0	0	0	1	0	19	34				
CSPP1	79848	broad.mit.edu	37	8	68074073	68074073	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:68074073C>T	ENST00000262210.5	+	20	2582	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	CSPP1_ENST00000412460.1_Missense_Mutation_p.P506S|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	886	Glu-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCCTATAGTTCCTGCTCTTCA	0.358																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2551-2553)Cct>Tct		centrosome and spindle pole associated protein 1							176.0	170.0	171.0					8																	68074073		1857	4110	5967	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68074073C>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2551C>T	8.37:g.68074073C>T	ENSP00000262210:p.Pro851Ser					CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.P506S	p.P851S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		20	2582	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	886			Glu-rich.		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2551C>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692627	0.88735	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.42513	0.97;1.01;1.01	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	M	0.68952	2.095	0.46222	D	0.99893	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.66118	-0.6003	10	0.72032	D	0.01	-13.8435	19.0011	0.92834	0.0:1.0:0.0:0.0	.	506;851;886	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	S	851;886;506;506	ENSP00000262210:P851S;ENSP00000415782:P506S;ENSP00000430092:P506S	ENSP00000262210:P851S	P	+	1	0	CSPP1	68236627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.818000	0.62657	2.820000	0.97059	0.650000	0.86243	CCT		0.358	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		40	95	0	0	0	1	0	40	95				
KIAA0226	9711	broad.mit.edu	37	3	197444966	197444966	+	Missense_Mutation	SNP	G	G	A	rs200206166		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:197444966G>A	ENST00000296343.5	-	2	100	c.101C>T	c.(100-102)aCg>aTg	p.T34M	KIAA0226_ENST00000449205.1_Missense_Mutation_p.T34M|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000273582.5_De_novo_Start_InFrame|KIAA0226_ENST00000389665.5_Missense_Mutation_p.T34M	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	34					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCCACCGTCGTCTTCAAATT	0.502																																					Esophageal Squamous(3;167 355 3763 15924)	ENST00000273582.5																			0				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31								KIAA0226		G	,MET/THR	1,3951		0,1,1975	96.0	96.0	96.0		,101	5.8	1.0	3		96	0,8322		0,0,4161	no	utr-5,missense	KIAA0226	NM_001145642.2,NM_014687.1	,81	0,1,6136	AA,AG,GG		0.0,0.0253,0.0081	,probably-damaging	,34/973	197444966	1,12273	1976	4161	6137	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197444966G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.101C>T	3.37:g.197444966G>A	ENSP00000296343:p.Thr34Met					KIAA0226_ENST00000389665.5_Missense_Mutation_p.T34M|KIAA0226_ENST00000296343.5_Missense_Mutation_p.T34M|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Missense_Mutation_p.T34M		NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	0	466	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)							Q96CK5	Translation_Start_Site	SNP	ENST00000296343.5	37		CCDS43195.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499870	0.85176	2.53E-4	0.0	ENSG00000145016	ENST00000296343;ENST00000389665;ENST00000449205	T;T;T	0.11712	2.75;2.75;2.75	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	L	0.27053	0.805	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.74348	0.97;0.983	T	0.01053	-1.1467	10	0.87932	D	0	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	34;34	E9PEM3;Q92622	.;RUBIC_HUMAN	M	34	ENSP00000296343:T34M;ENSP00000374316:T34M;ENSP00000390962:T34M	ENSP00000296343:T34M	T	-	2	0	KIAA0226	198929363	1.000000	0.71417	0.989000	0.46669	0.654000	0.38779	9.178000	0.94855	2.738000	0.93877	0.655000	0.94253	ACG		0.502	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		9	50	0	0	0	1	0	9	50				
MMP10	4319	broad.mit.edu	37	11	102650335	102650335	+	Silent	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:102650335G>A	ENST00000279441.4	-	2	283	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	83					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	ATCACCTCCAGAGTGTCAGTG	0.483																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.(247-249)Ctg>Ttg		matrix metallopeptidase 10 (stromelysin 2)							118.0	94.0	102.0					11																	102650335		2203	4299	6502	SO:0001819	synonymous_variant	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102650335G>A	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.247C>T	11.37:g.102650335G>A							p.L83L	NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	2	283	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	83					B2R9X9|Q53HH9	Silent	SNP	ENST00000279441.4	37	c.247C>T	CCDS8321.1																																																																																				0.483	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1			24	17	0	0	0	1	0	24	17				
COL5A3	50509	broad.mit.edu	37	19	10106792	10106792	+	Missense_Mutation	SNP	G	G	A	rs544373080	byFrequency	TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:10106792G>A	ENST00000264828.3	-	15	1568	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	495	Collagen-like 2.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGCCCGGGGAGACCCTTGGGG	0.592																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(1483-1485)Ctc>Ttc		collagen, type V, alpha 3							163.0	156.0	158.0					19																	10106792		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10106792G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1483C>T	19.37:g.10106792G>A	ENSP00000264828:p.Leu495Phe					CTD-2553C6.1_ENST00000592332.1_RNA	p.L495F	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		15	1568	-			495			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1483C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	2.799	-0.249637	0.05867	.	.	ENSG00000080573	ENST00000264828	D	0.93604	-3.25	5.56	5.56	0.83823	.	0.322809	0.24336	U	0.039411	D	0.90400	0.6995	N	0.11651	0.15	0.38429	D	0.946384	D	0.58970	0.984	P	0.59889	0.865	D	0.87441	0.2395	10	0.09843	T	0.71	.	15.0352	0.71741	0.0:0.0:1.0:0.0	.	495	P25940	CO5A3_HUMAN	F	495	ENSP00000264828:L495F	ENSP00000264828:L495F	L	-	1	0	COL5A3	9967792	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	3.808000	0.55598	2.640000	0.89533	0.655000	0.94253	CTC		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		15	122	0	0	0	1	0	15	122				
SF1	7536	broad.mit.edu	37	11	64536774	64536774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:64536774C>A	ENST00000377390.3	-	7	1037	c.700G>T	c.(700-702)Gag>Tag	p.E234*	SF1_ENST00000377387.1_Nonsense_Mutation_p.E359*|SF1_ENST00000377394.3_Nonsense_Mutation_p.E234*|SF1_ENST00000422298.2_Nonsense_Mutation_p.E119*|SF1_ENST00000227503.9_Nonsense_Mutation_p.E234*|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Nonsense_Mutation_p.E234*|SF1_ENST00000433274.2_Nonsense_Mutation_p.E208*	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	234					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TTCTGGTCCTCTGGAGTCTCG	0.478																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(700-702)Gag>Tag		splicing factor 1							103.0	99.0	100.0					11																	64536774		2201	4297	6498	SO:0001587	stop_gained	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64536774C>A	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.700G>T	11.37:g.64536774C>A	ENSP00000366607:p.Glu234*					SF1_ENST00000334944.5_Nonsense_Mutation_p.E234*|SF1_ENST00000377387.1_Nonsense_Mutation_p.E359*|SF1_ENST00000433274.2_Nonsense_Mutation_p.E208*|SF1_ENST00000227503.9_Nonsense_Mutation_p.E234*|SF1_ENST00000377394.3_Nonsense_Mutation_p.E234*|SF1_ENST00000422298.2_Nonsense_Mutation_p.E119*|SF1_ENST00000489544.1_5'UTR	p.E234*	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			7	1037	-			234					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Nonsense_Mutation	SNP	ENST00000377390.3	37	c.700G>T	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	40	8.126233	0.98667	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	.	.	.	6.03	6.03	0.97812	.	0.050525	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0691	0.89400	0.0:1.0:0.0:0.0	.	.	.	.	X	359;234;234;234;234;119;208	.	ENSP00000227503:E234X	E	-	1	0	SF1	64293350	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.544000	0.82117	2.868000	0.98415	0.557000	0.71058	GAG		0.478	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		29	95	1	0	2.2171e-23	1	2.42903e-23	29	95				
PCDHGC4	56098	broad.mit.edu	37	5	140865344	140865344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr5:140865344C>T	ENST00000306593.1	+	1	604	c.604C>T	c.(604-606)Cga>Tga	p.R202*	PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTTGGATCGAGAGAAGCA	0.597																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(604-606)Cga>Tga									34.0	38.0	37.0					5																	140865344		2203	4300	6503	SO:0001587	stop_gained	56098							g.chr5:140865344C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.604C>T	5.37:g.140865344C>T	ENSP00000306918:p.Arg202*					PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron	p.R202*	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	604	+								Q495T2|Q9Y5C3	Nonsense_Mutation	SNP	ENST00000306593.1	37	c.604C>T	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970991	0.74246	.	.	ENSG00000242419	ENST00000306593	.	.	.	5.0	2.0	0.26442	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9006	0.29731	0.4792:0.4398:0.0:0.0811	.	.	.	.	X	202	.	ENSP00000306918:R202X	R	+	1	2	PCDHGC4	140845528	0.005000	0.15991	0.999000	0.59377	0.970000	0.65996	-0.135000	0.10420	0.644000	0.30656	0.561000	0.74099	CGA		0.597	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		5	39	0	0	0	1	0	5	39				
IFNA4	3441	broad.mit.edu	37	9	21187008	21187008	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr9:21187008G>A	ENST00000421715.1	-	1	590	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	175					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAAAACGAGAGGGATCTCATG	0.398																																					NSCLC(154;890 1986 23660 27800 51138)	ENST00000421715.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(523-525)Ctc>Ttc		interferon, alpha 4							204.0	208.0	206.0					9																	21187008		2203	4297	6500	SO:0001583	missense	3441				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21187008G>A		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.523C>T	9.37:g.21187008G>A	ENSP00000412897:p.Leu175Phe						p.L175F	NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN		GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	590	-			175					P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	ENST00000421715.1	37	c.523C>T	CCDS6498.1	.	.	.	.	.	.	.	.	.	.	-	0.009	-1.808584	0.00606	.	.	ENSG00000236637	ENST00000421715	T	0.08282	3.11	2.96	-3.26	0.05064	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.509670	0.20302	N	0.095013	T	0.02230	0.0069	N	0.03029	-0.43	0.09310	N	0.999999	B	0.06786	0.001	B	0.12837	0.008	T	0.40251	-0.9573	10	0.11485	T	0.65	.	4.7629	0.13116	0.5648:0.1537:0.2815:0.0	.	175	P05014	IFNA4_HUMAN	F	175	ENSP00000412897:L175F	ENSP00000412897:L175F	L	-	1	0	IFNA4	21177008	0.000000	0.05858	0.008000	0.14137	0.090000	0.18270	0.159000	0.16442	-1.120000	0.02953	-2.791000	0.00116	CTC		0.398	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068		6	132	0	0	0	1	0	6	132				
FASTKD2	22868	broad.mit.edu	37	2	207631831	207631831	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:207631831A>C	ENST00000236980.6	+	2	762	c.414A>C	c.(412-414)gaA>gaC	p.E138D	MDH1B_ENST00000454776.2_5'Flank|FASTKD2_ENST00000403094.3_Missense_Mutation_p.E138D|MDH1B_ENST00000374412.3_5'Flank|MDH1B_ENST00000392214.2_5'Flank|MDH1B_ENST00000449792.1_5'Flank|FASTKD2_ENST00000402774.3_Missense_Mutation_p.E138D	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	138					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTAATCATGAAGTCTCCAATG	0.363																																						ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(412-414)gaA>gaC		FAST kinase domains 2							73.0	72.0	72.0					2																	207631831		2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207631831A>C	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.414A>C	2.37:g.207631831A>C	ENSP00000236980:p.Glu138Asp					FASTKD2_ENST00000403094.3_Missense_Mutation_p.E138D|FASTKD2_ENST00000402774.3_Missense_Mutation_p.E138D	p.E138D	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	2	762	+			138					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.414A>C	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	A	7.656	0.683848	0.14907	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.15834	2.39;2.39;2.39	3.46	-1.06	0.10002	.	1.106060	0.06840	N	0.795529	T	0.11836	0.0288	L	0.46157	1.445	0.09310	N	1	B;B	0.33694	0.01;0.421	B;B	0.26770	0.019;0.073	T	0.32214	-0.9915	10	0.21540	T	0.41	-7.4191	4.7711	0.13157	0.4698:0.3137:0.2165:0.0	.	138;138	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	D	138	ENSP00000236980:E138D;ENSP00000385990:E138D;ENSP00000384929:E138D	ENSP00000236980:E138D	E	+	3	2	FASTKD2	207340076	0.004000	0.15560	0.002000	0.10522	0.431000	0.31685	0.170000	0.16663	-0.218000	0.10018	0.459000	0.35465	GAA		0.363	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		11	68	0	0	0	1	0	11	68				
AHI1	54806	broad.mit.edu	37	6	135784313	135784313	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:135784313T>C	ENST00000367800.4	-	6	1097	c.881A>G	c.(880-882)cAa>cGa	p.Q294R	AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R|AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	294	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.Q294R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGTATCATCTTGCATGCTGTC	0.313																																						ENST00000367800.4																			1	Substitution - Missense(1)	p.Q294R(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(880-882)cAa>cGa		Abelson helper integration site 1							129.0	114.0	119.0					6																	135784313		1852	4103	5955	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135784313T>C	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.881A>G	6.37:g.135784313T>C	ENSP00000356774:p.Gln294Arg					AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R|AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R	p.Q294R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	6	1097	-	Breast(56;0.239)|Colorectal(23;0.24)		294					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.881A>G	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	3.317	-0.139492	0.06669	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.57107	0.42;0.42;0.42;1.63;0.93	4.34	2.06	0.26882	.	0.686507	0.13895	N	0.355342	T	0.26376	0.0644	L	0.51422	1.61	0.58432	D	0.999999	B;B	0.31125	0.145;0.309	B;B	0.21708	0.036;0.026	T	0.16512	-1.0400	10	0.66056	D	0.02	-4.9798	8.9169	0.35587	0.0:0.0:0.507:0.493	.	294;294	Q8N157-2;Q8N157	.;AHI1_HUMAN	R	294;294;294;294;294;276	ENSP00000356774:Q294R;ENSP00000388650:Q294R;ENSP00000265602:Q294R;ENSP00000322478:Q294R;ENSP00000433063:Q276R	ENSP00000265602:Q294R	Q	-	2	0	AHI1	135826006	0.083000	0.21467	0.245000	0.24217	0.019000	0.09904	1.142000	0.31540	0.484000	0.27630	0.383000	0.25322	CAA		0.313	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		5	67	0	0	0	1	0	5	67				
ADAM17	6868	broad.mit.edu	37	2	9668007	9668007	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:9668007G>A	ENST00000310823.3	-	5	709	c.527C>T	c.(526-528)tCa>tTa	p.S176L	ADAM17_ENST00000497134.1_Missense_Mutation_p.S176L	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	176					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTGCAAACGTGAAACATTCTT	0.343																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(526-528)tCa>tTa		ADAM metallopeptidase domain 17							118.0	117.0	117.0					2																	9668007		2203	4298	6501	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9668007G>A	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.527C>T	2.37:g.9668007G>A	ENSP00000309968:p.Ser176Leu					ADAM17_ENST00000497134.1_Missense_Mutation_p.S176L	p.S176L	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN		Epithelial(75;0.225)	5	709	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		176					O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.527C>T	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779033	0.70107	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.65916	1.92;-0.18	5.48	5.48	0.80851	.	0.112555	0.64402	D	0.000011	T	0.75213	0.3819	L	0.59436	1.845	0.54753	D	0.999987	D;B;D;B	0.89917	1.0;0.255;1.0;0.255	D;B;D;B	0.85130	0.997;0.046;0.997;0.046	T	0.67300	-0.5705	10	0.11794	T	0.64	.	19.7057	0.96071	0.0:0.0:1.0:0.0	.	176;176;176;176	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	L	176	ENSP00000309968:S176L;ENSP00000418728:S176L	ENSP00000309968:S176L	S	-	2	0	ADAM17	9585458	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.551000	0.73909	2.722000	0.93159	0.467000	0.42956	TCA		0.343	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			24	35	0	0	0	1	0	24	35				
BCORL1	63035	broad.mit.edu	37	X	129148036	129148036	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chrX:129148036A>G	ENST00000218147.7	+	4	1485	c.1288A>G	c.(1288-1290)Atg>Gtg	p.M430V	BCORL1_ENST00000303743.5_Missense_Mutation_p.M430V|BCORL1_ENST00000540052.1_Missense_Mutation_p.M430V|BCORL1_ENST00000359304.2_Missense_Mutation_p.M430V			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	430	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGCACCAGCTATGCAAAAAGT	0.602																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(1288-1290)Atg>Gtg		BCL6 corepressor-like 1							44.0	39.0	41.0					X																	129148036		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148036A>G	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1288A>G	X.37:g.129148036A>G	ENSP00000218147:p.Met430Val					BCORL1_ENST00000218147.7_Missense_Mutation_p.M430V|BCORL1_ENST00000303743.5_Missense_Mutation_p.M430V|BCORL1_ENST00000359304.2_Missense_Mutation_p.M430V	p.M430V	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	1332	+			430			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.1288A>G	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	6.869	0.529624	0.13127	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.43294	0.97;1.34;0.95;0.97;1.45	5.8	5.8	0.92144	.	0.000000	0.44483	D	0.000445	T	0.25232	0.0613	N	0.14661	0.345	0.30768	N	0.743299	B;B	0.29136	0.234;0.15	B;B	0.28465	0.09;0.012	T	0.23404	-1.0189	10	0.28530	T	0.3	-17.873	9.6587	0.39941	0.9221:0.0:0.0779:0.0	.	430;430	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	V	430;430;430;430;30	ENSP00000218147:M430V;ENSP00000307541:M430V;ENSP00000352253:M430V;ENSP00000437775:M430V;ENSP00000399483:M30V	ENSP00000218147:M430V	M	+	1	0	BCORL1	128975717	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.579000	0.53900	1.960000	0.56953	0.430000	0.28490	ATG		0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		24	9	0	0	0	1	0	24	9				
LAMA3	3909	broad.mit.edu	37	18	21487589	21487589	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:21487589A>G	ENST00000313654.9	+	53	7035	c.6794A>G	c.(6793-6795)aAt>aGt	p.N2265S	LAMA3_ENST00000587184.1_Missense_Mutation_p.N600S|LAMA3_ENST00000269217.6_Missense_Mutation_p.N656S|LAMA3_ENST00000399516.3_Missense_Mutation_p.N2209S|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2265	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ATAGACACCAATCTCACAACT	0.408																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(6793-6795)aAt>aGt		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						197.0	191.0	193.0					18																	21487589		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21487589A>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6794A>G	18.37:g.21487589A>G	ENSP00000324532:p.Asn2265Ser					LAMA3_ENST00000399516.3_Missense_Mutation_p.N2209S|LAMA3_ENST00000269217.6_Missense_Mutation_p.N656S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.N600S	p.N2265S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			53	7035	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2265			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.6794A>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.818393	0.50633	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.20332	2.25;2.24;2.08	5.28	2.94	0.34122	.	.	.	.	.	T	0.22282	0.0537	M	0.65975	2.015	0.33753	D	0.62084	P;D;P;P	0.53745	0.877;0.962;0.862;0.917	B;B;B;B	0.43331	0.251;0.416;0.37;0.278	T	0.34104	-0.9842	9	0.20046	T	0.44	.	9.2803	0.37725	0.8557:0.0:0.1443:0.0	.	600;656;2209;2265	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	S	2265;2209;656	ENSP00000324532:N2265S;ENSP00000382432:N2209S;ENSP00000269217:N656S	ENSP00000269217:N656S	N	+	2	0	LAMA3	19741587	0.955000	0.32602	0.792000	0.32020	0.964000	0.63967	3.754000	0.55189	0.484000	0.27630	0.533000	0.62120	AAT		0.408	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		63	105	0	0	0	1	0	63	105				
THEG	51298	broad.mit.edu	37	19	375821	375821	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:375821C>T	ENST00000342640.4	-	1	192	c.150G>A	c.(148-150)ctG>ctA	p.L50L	THEG_ENST00000346878.2_Silent_p.L50L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	50					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCATTGTCCAGGTCCTGGC	0.672																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(148-150)ctG>ctA		theg spermatid protein							52.0	59.0	57.0					19																	375821		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:375821C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.150G>A	19.37:g.375821C>T						THEG_ENST00000346878.2_Silent_p.L50L	p.L50L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	192	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	50					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.150G>A	CCDS12025.1																																																																																				0.672	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			27	55	0	0	0	1	0	27	55				
RPS6KA1	6195	broad.mit.edu	37	1	26888134	26888134	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:26888134G>C	ENST00000374168.2	+	17	1724	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E533Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E508Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E432Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E513Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E432Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	524	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|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 apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CAAAACTGTGGAGTATCTGCA	0.582																																						ENST00000374168.2																			0				lung(1)	1						c.(1570-1572)Gag>Cag		ribosomal protein S6 kinase, 90kDa, polypeptide 1							106.0	100.0	102.0					1																	26888134		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26888134G>C	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1570G>C	1.37:g.26888134G>C	ENSP00000363283:p.Glu524Gln					RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E533Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E432Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E513Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E432Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E508Q	p.E524Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	17	1724	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	524			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1570G>C	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386123	0.82902	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382;ENST00000403732	T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	N	0.05383	-0.06	0.80722	D	1	P;B;D	0.69078	0.708;0.183;0.997	B;B;D	0.77004	0.355;0.14;0.989	T	0.72516	-0.4269	10	0.40728	T	0.16	.	19.9477	0.97189	0.0:0.0:1.0:0.0	.	508;533;524	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	Q	524;513;432;432;508;202;533;140	ENSP00000363283:E524Q;ENSP00000363281:E513Q;ENSP00000431651:E432Q;ENSP00000363277:E432Q;ENSP00000432281:E508Q;ENSP00000435412:E533Q;ENSP00000383967:E140Q	ENSP00000363277:E432Q	E	+	1	0	RPS6KA1	26760721	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.761000	0.98940	2.736000	0.93811	0.655000	0.94253	GAG		0.582	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		6	69	0	0	0	1	0	6	69				
FAM83B	222584	broad.mit.edu	37	6	54805489	54805489	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:54805489A>G	ENST00000306858.7	+	5	1836	c.1720A>G	c.(1720-1722)Agt>Ggt	p.S574G	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	574										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCTCAGGGAAGTGAGACACC	0.443																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1720-1722)Agt>Ggt		family with sequence similarity 83, member B							55.0	56.0	55.0					6																	54805489		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805489A>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1720A>G	6.37:g.54805489A>G	ENSP00000304078:p.Ser574Gly						p.S574G	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1836	+	Lung NSC(77;0.0178)|Renal(3;0.122)		574					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1720A>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.333381	0.41297	.	.	ENSG00000168143	ENST00000306858	T	0.34472	1.36	5.66	5.66	0.87406	.	0.900902	0.09979	N	0.731212	T	0.28928	0.0718	M	0.69823	2.125	0.43919	D	0.996563	P	0.39060	0.657	B	0.35182	0.197	T	0.22591	-1.0212	10	0.44086	T	0.13	-15.899	16.2026	0.82095	1.0:0.0:0.0:0.0	.	574	Q5T0W9	FA83B_HUMAN	G	574	ENSP00000304078:S574G	ENSP00000304078:S574G	S	+	1	0	FAM83B	54913448	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.361000	0.73070	2.285000	0.76669	0.533000	0.62120	AGT		0.443	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		16	34	0	0	0	1	0	16	34				
ARHGEF15	22899	broad.mit.edu	37	17	8216367	8216367	+	Silent	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:8216367G>A	ENST00000361926.3	+	3	839	c.729G>A	c.(727-729)ccG>ccA	p.P243P	ARHGEF15_ENST00000421050.1_Silent_p.P243P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	243					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGGCCTCCCCGCTGCGGACCT	0.697																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(727-729)ccG>ccA		Rho guanine nucleotide exchange factor (GEF) 15							50.0	56.0	54.0					17																	8216367		2203	4299	6502	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216367G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.729G>A	17.37:g.8216367G>A						ARHGEF15_ENST00000421050.1_Silent_p.P243P	p.P243P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			3	839	+			243					A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.729G>A	CCDS11139.1																																																																																				0.697	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		38	82	0	0	0	1	0	38	82				
NINL	22981	broad.mit.edu	37	20	25434176	25434176	+	Missense_Mutation	SNP	C	C	T	rs200080729		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr20:25434176C>T	ENST00000278886.6	-	24	4133	c.4060G>A	c.(4060-4062)Gcc>Acc	p.A1354T	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Missense_Mutation_p.A1005T	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1354					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGTTTCTCGGCGCCTCGCTGC	0.547																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(4060-4062)Gcc>Acc		ninein-like							78.0	78.0	78.0					20																	25434176		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25434176C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.4060G>A	20.37:g.25434176C>T	ENSP00000278886:p.Ala1354Thr					NINL_ENST00000422516.1_Missense_Mutation_p.A1005T|NINL_ENST00000464285.1_5'UTR	p.A1354T	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			24	4133	-			1354					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.4060G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427574	0.25726	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.47177	0.85;0.85	5.04	4.1	0.47936	.	0.147228	0.43919	N	0.000510	T	0.63046	0.2478	M	0.80183	2.485	0.22996	N	0.998459	P;D;D	0.67145	0.944;0.969;0.996	B;P;P	0.59643	0.284;0.712;0.861	T	0.57820	-0.7745	10	0.66056	D	0.02	-7.7775	9.4905	0.38955	0.0:0.8311:0.0:0.1689	.	1005;1354;145	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	T	1354;1005	ENSP00000278886:A1354T;ENSP00000410431:A1005T	ENSP00000278886:A1354T	A	-	1	0	NINL	25382176	0.916000	0.31088	0.005000	0.12908	0.002000	0.02628	1.890000	0.39728	1.367000	0.46095	-0.140000	0.14226	GCC		0.547	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		30	35	0	0	0	1	0	30	35				
RUVBL2	10856	broad.mit.edu	37	19	49513116	49513116	+	Silent	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:49513116G>C	ENST00000595090.1	+	7	1010	c.546G>C	c.(544-546)ctG>ctC	p.L182L	RUVBL2_ENST00000601968.1_Silent_p.L137L|RUVBL2_ENST00000413176.2_Silent_p.L137L	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	182					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TTGAGTCCCTGACCAAGGACA	0.612																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(409-411)ctG>ctC		RuvB-like AAA ATPase 2							90.0	92.0	91.0					19																	49513116		2095	4218	6313	SO:0001819	synonymous_variant	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49513116G>C	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.546G>C	19.37:g.49513116G>C						RUVBL2_ENST00000595090.1_Silent_p.L182L|RUVBL2_ENST00000601968.1_Silent_p.L137L	p.L137L			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	7	1559	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	182					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	ENST00000595090.1	37	c.411G>C	CCDS42588.1																																																																																				0.612	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			9	109	0	0	0	1	0	9	109				
PRKDC	5591	broad.mit.edu	37	8	48842559	48842559	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:48842559C>G	ENST00000314191.2	-	18	1962	c.1906G>C	c.(1906-1908)Gag>Cag	p.E636Q	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E636Q	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	636					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCTTGTTTCTCAGGGAGAATC	0.323								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(1906-1908)Gag>Cag	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							59.0	60.0	60.0					8																	48842559		1800	4063	5863	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48842559C>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.1906G>C	8.37:g.48842559C>G	ENSP00000313420:p.Glu636Gln					PRKDC_ENST00000338368.3_Missense_Mutation_p.E636Q|PRKDC_ENST00000523565.1_5'UTR	p.E636Q	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			18	1962	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	636					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.1906G>C		.	.	.	.	.	.	.	.	.	.	C	12.96	2.095602	0.36952	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02421	4.37;4.3	5.61	4.72	0.59763	Armadillo-type fold (1);	0.585190	0.18196	N	0.148661	T	0.02119	0.0066	.	.	.	0.21652	N	0.9996	P;B;B	0.36315	0.547;0.411;0.411	B;B;B	0.30105	0.111;0.081;0.081	T	0.50224	-0.8853	9	0.22706	T	0.39	.	9.8588	0.41101	0.0:0.8432:0.0:0.1568	.	636;636;636	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	Q	636	ENSP00000313420:E636Q;ENSP00000345182:E636Q	ENSP00000313420:E636Q	E	-	1	0	PRKDC	49005112	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.239000	0.43079	1.346000	0.45694	0.467000	0.42956	GAG		0.323	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		4	44	0	0	0	1	0	4	44				
ZNF521	25925	broad.mit.edu	37	18	22805265	22805265	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:22805265C>T	ENST00000361524.3	-	4	2765	c.2617G>A	c.(2617-2619)Gat>Aat	p.D873N	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.D653N|ZNF521_ENST00000538137.2_Missense_Mutation_p.D873N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	873					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)					TCGCTCCCATCGTGACTGTTG	0.527			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				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						c.(2617-2619)Gat>Aat		zinc finger protein 521							171.0	158.0	162.0					18																	22805265		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.chr18:22805265C>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.2617G>A	18.37:g.22805265C>T	ENSP00000354794:p.Asp873Asn					ZNF521_ENST00000584787.1_Missense_Mutation_p.D653N|ZNF521_ENST00000538137.2_Missense_Mutation_p.D873N	p.D873N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2765	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		873					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2617G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541915	0.45280	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09445	2.98;3.02	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.36672	1.1	0.48975	D	0.999736	D	0.69078	0.997	P	0.58391	0.838	T	0.00082	-1.2104	10	0.38643	T	0.18	-32.2637	20.3539	0.98825	0.0:1.0:0.0:0.0	.	873	Q96K83	ZN521_HUMAN	N	873;907;873	ENSP00000354794:D873N;ENSP00000382352:D873N	ENSP00000354794:D873N	D	-	1	0	ZNF521	21059263	1.000000	0.71417	0.753000	0.31225	0.982000	0.71751	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	GAT		0.527	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		25	59	0	0	0	1	0	25	59				
ASAP2	8853	broad.mit.edu	37	2	9463337	9463337	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:9463337G>C	ENST00000281419.3	+	6	898	c.558G>C	c.(556-558)gaG>gaC	p.E186D	ASAP2_ENST00000315273.4_Missense_Mutation_p.E186D	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	186					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TTGCCGAAGAGATGGAAAAGG	0.537																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(556-558)gaG>gaC		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							146.0	148.0	147.0					2																	9463337		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9463337G>C	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.558G>C	2.37:g.9463337G>C	ENSP00000281419:p.Glu186Asp					ASAP2_ENST00000315273.4_Missense_Mutation_p.E186D	p.E186D	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			6	898	+			186					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.558G>C	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636333	0.67130	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.05139	3.49;3.49	5.21	2.38	0.29361	.	0.050185	0.85682	D	0.000000	T	0.06416	0.0165	L	0.45422	1.42	0.49915	D	0.999839	P;P	0.40970	0.734;0.615	B;B	0.42555	0.391;0.358	T	0.45498	-0.9257	10	0.25751	T	0.34	.	6.4143	0.21708	0.2161:0.1326:0.6512:0.0	.	186;186	O43150-2;O43150	.;ASAP2_HUMAN	D	186	ENSP00000281419:E186D;ENSP00000316404:E186D	ENSP00000281419:E186D	E	+	3	2	ASAP2	9380788	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	1.429000	0.34903	0.769000	0.33313	-0.136000	0.14681	GAG		0.537	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		34	107	0	0	0	1	0	34	107				
KIF1C	10749	broad.mit.edu	37	17	4923965	4923965	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:4923965G>T	ENST00000320785.5	+	20	2286	c.1929G>T	c.(1927-1929)atG>atT	p.M643I	AC109333.10_ENST00000438266.1_RNA|KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	643					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGCTGGAAATGGAGAAGAGGT	0.632																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(1927-1929)atG>atT		kinesin family member 1C							48.0	45.0	46.0					17																	4923965		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4923965G>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1929G>T	17.37:g.4923965G>T	ENSP00000320821:p.Met643Ile					KIF1C_ENST00000573815.1_3'UTR	p.M643I	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			20	2286	+			643					D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.1929G>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167611	0.78339	.	.	ENSG00000129250	ENST00000320785	T	0.72051	-0.62	5.68	5.68	0.88126	.	.	.	.	.	T	0.77545	0.4146	L	0.42245	1.32	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.74816	-0.3536	9	0.38643	T	0.18	.	17.2981	0.87174	0.0:0.0:1.0:0.0	.	643	O43896	KIF1C_HUMAN	I	643	ENSP00000320821:M643I	ENSP00000320821:M643I	M	+	3	0	KIF1C	4864689	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.742000	0.98846	2.683000	0.91414	0.655000	0.94253	ATG		0.632	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			6	38	1	0	3.59834e-05	1	3.74932e-05	6	38				
ZNF584	201514	broad.mit.edu	37	19	58926999	58926999	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:58926999G>C	ENST00000306910.4	+	3	801	c.278G>C	c.(277-279)aGa>aCa	p.R93T	ZNF584_ENST00000322834.7_Missense_Mutation_p.R85T|CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000593920.1_Missense_Mutation_p.R48T|ZNF584_ENST00000599238.1_Missense_Mutation_p.R48T|ZNF584_ENST00000596921.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GAAGCCAGGAGAGGTTTTGGT	0.542																																						ENST00000306910.4																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(277-279)aGa>aCa		zinc finger protein 584							115.0	96.0	103.0					19																	58926999		2203	4300	6503	SO:0001583	missense	201514				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58926999G>C	AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.278G>C	19.37:g.58926999G>C	ENSP00000306756:p.Arg93Thr					ZNF584_ENST00000596921.1_3'UTR|ZNF584_ENST00000322834.7_Missense_Mutation_p.R85T|ZNF584_ENST00000593920.1_Missense_Mutation_p.R48T|ZNF584_ENST00000599238.1_Missense_Mutation_p.R48T	p.R93T	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)	3	801	+		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	93					A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	c.278G>C	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002838	0.35320	.	.	ENSG00000171574	ENST00000306910;ENST00000322834	T;T	0.06218	3.33;5.21	3.26	-0.694	0.11294	.	.	.	.	.	T	0.06325	0.0163	N	0.19112	0.55	0.09310	N	1	P;B	0.46327	0.876;0.244	P;B	0.52909	0.713;0.033	T	0.37197	-0.9716	9	0.25751	T	0.34	.	4.1115	0.10062	0.1218:0.0:0.418:0.4603	.	85;93	F6W0P0;Q8IVC4	.;ZN584_HUMAN	T	93;85	ENSP00000306756:R93T;ENSP00000320731:R85T	ENSP00000306756:R93T	R	+	2	0	ZNF584	63618811	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.763000	0.04740	-0.138000	0.11434	-0.516000	0.04426	AGA		0.542	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		5	42	0	0	0	1	0	5	42				
MPP7	143098	broad.mit.edu	37	10	28409531	28409531	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr10:28409531C>G	ENST00000375732.1	-	9	941	c.682G>C	c.(682-684)Gaa>Caa	p.E228Q	MPP7_ENST00000337532.5_Missense_Mutation_p.E228Q|MPP7_ENST00000445954.2_Missense_Mutation_p.E103Q|MPP7_ENST00000375719.3_Missense_Mutation_p.E228Q|MPP7_ENST00000540098.1_Missense_Mutation_p.E228Q			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	228	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ACCTTGCCTTCTTTTGATGGT	0.388																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(682-684)Gaa>Caa		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							129.0	110.0	116.0					10																	28409531		2203	4300	6503	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28409531C>G	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.682G>C	10.37:g.28409531C>G	ENSP00000364884:p.Glu228Gln					MPP7_ENST00000540098.1_Missense_Mutation_p.E228Q|MPP7_ENST00000375732.1_Missense_Mutation_p.E228Q|MPP7_ENST00000445954.2_Missense_Mutation_p.E103Q|MPP7_ENST00000375719.3_Missense_Mutation_p.E228Q	p.E228Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			10	958	-			228			SH3.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.682G>C	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098423	0.56183	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000445954	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.2	5.2	0.72013	Src homology-3 domain (2);	0.045249	0.85682	D	0.000000	D	0.83792	0.5331	L	0.46157	1.445	0.80722	D	1	P	0.49358	0.923	P	0.49829	0.623	T	0.81353	-0.0971	10	0.27082	T	0.32	.	19.1024	0.93279	0.0:1.0:0.0:0.0	.	228	Q5T2T1	MPP7_HUMAN	Q	228;228;228;228;103	ENSP00000364884:E228Q;ENSP00000337907:E228Q;ENSP00000438693:E228Q;ENSP00000364871:E228Q;ENSP00000405397:E103Q	ENSP00000337907:E228Q	E	-	1	0	MPP7	28449537	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	7.507000	0.81676	2.573000	0.86826	0.579000	0.79373	GAA		0.388	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		11	35	0	0	0	1	0	11	35				
ECHDC1	55862	broad.mit.edu	37	6	127611032	127611032	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:127611032T>A	ENST00000531967.1	-	6	1409	c.906A>T	c.(904-906)aaA>aaT	p.K302N	ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454859.3_Missense_Mutation_p.K296N|ECHDC1_ENST00000474289.2_Missense_Mutation_p.K296N|ECHDC1_ENST00000488087.1_5'Flank|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000454591.2_Missense_Mutation_p.K221N|ECHDC1_ENST00000430841.2_Missense_Mutation_p.K296N|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.K279N	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	302						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TAAATTTTCCTTTCTTAGCAA	0.343																																						ENST00000531967.1																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(904-906)aaA>aaT		enoyl CoA hydratase domain containing 1							65.0	64.0	64.0					6																	127611032		1806	4071	5877	SO:0001583	missense	55862						catalytic activity	g.chr6:127611032T>A	AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.906A>T	6.37:g.127611032T>A	ENSP00000436585:p.Lys302Asn					ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000474289.2_Missense_Mutation_p.K296N|ECHDC1_ENST00000430841.2_Missense_Mutation_p.K296N|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.K279N|ECHDC1_ENST00000454859.3_Missense_Mutation_p.K296N|ECHDC1_ENST00000454591.2_Missense_Mutation_p.K221N	p.K302N	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)	6	1409	-			302					A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	ENST00000531967.1	37	c.906A>T	CCDS47471.1	.	.	.	.	.	.	.	.	.	.	T	8.887	0.953085	0.18431	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000474289;ENST00000454591;ENST00000309620;ENST00000430841	T;T;T;T;T;T	0.78481	-0.19;-0.19;-0.19;-1.18;0.7;-0.19	5.22	2.8	0.32819	.	0.322131	0.41500	D	0.000880	T	0.49830	0.1580	L	0.36672	1.1	0.28696	N	0.904314	B	0.06786	0.001	B	0.06405	0.002	T	0.50154	-0.8861	10	0.52906	T	0.07	.	10.111	0.42563	0.0:0.1443:0.0:0.8557	.	302	Q9NTX5	ECHD1_HUMAN	N	296;302;296;221;279;296	ENSP00000401751:K296N;ENSP00000436585:K302N;ENSP00000434908:K296N;ENSP00000404866:K221N;ENSP00000311115:K279N;ENSP00000402492:K296N	ENSP00000311115:K279N	K	-	3	2	ECHDC1	127652725	0.000000	0.05858	0.966000	0.40874	0.995000	0.86356	0.216000	0.17585	0.927000	0.37143	0.460000	0.39030	AAA		0.343	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2			32	53	0	0	0	1	0	32	53				
CCNA1	8900	broad.mit.edu	37	13	37011806	37011806	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr13:37011806C>A	ENST00000255465.4	+	3	602	c.338C>A	c.(337-339)gCc>gAc	p.A113D	CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000418263.1_Missense_Mutation_p.A112D|CCNA1_ENST00000449823.1_Missense_Mutation_p.A69D|CCNA1_ENST00000440264.1_Missense_Mutation_p.A69D			P78396	CCNA1_HUMAN	cyclin A1	113					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCAGAAAATGCCTTCCCTCCA	0.478																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(334-336)gCc>gAc		cyclin A1							102.0	110.0	108.0					13																	37011806		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37011806C>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.338C>A	13.37:g.37011806C>A	ENSP00000255465:p.Ala113Asp					CCNA1_ENST00000255465.4_Missense_Mutation_p.A113D|CCNA1_ENST00000449823.1_Missense_Mutation_p.A69D|CCNA1_ENST00000440264.1_Missense_Mutation_p.A69D|CCNA1_ENST00000463403.1_3'UTR	p.A112D	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	3	685	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	113					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.335C>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776200	0.31411	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.15256	2.47;2.47;2.44;2.44	5.47	0.156	0.14910	.	0.590047	0.17118	N	0.186341	T	0.09423	0.0232	L	0.29908	0.895	0.27374	N	0.955605	B;P	0.36465	0.034;0.554	B;B	0.26693	0.012;0.072	T	0.21415	-1.0246	10	0.27785	T	0.31	.	10.5122	0.44868	0.0:0.4712:0.0:0.5288	.	112;113	P78396-2;P78396	.;CCNA1_HUMAN	D	69;69;112;113	ENSP00000400666:A69D;ENSP00000409873:A69D;ENSP00000396479:A112D;ENSP00000255465:A113D	ENSP00000255465:A113D	A	+	2	0	CCNA1	35909806	0.706000	0.27856	0.948000	0.38648	0.976000	0.68499	0.100000	0.15231	-0.211000	0.10124	0.455000	0.32223	GCC		0.478	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		6	116	1	0	3.59834e-05	1	3.74932e-05	6	116				
KCNH5	27133	broad.mit.edu	37	14	63447862	63447862	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:63447862G>A	ENST00000322893.7	-	6	938	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	KCNH5_ENST00000394968.1_Missense_Mutation_p.L166F|KCNH5_ENST00000394964.2_Missense_Mutation_p.L166F|KCNH5_ENST00000420622.2_Missense_Mutation_p.L224F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	224					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TAGAAGGTAAGAATTAAAATC	0.388																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(670-672)Ctt>Ttt		potassium voltage-gated channel, subfamily H (eag-related), member 5							78.0	77.0	78.0					14																	63447862		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63447862G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.670C>T	14.37:g.63447862G>A	ENSP00000321427:p.Leu224Phe					KCNH5_ENST00000420622.2_Missense_Mutation_p.L224F|KCNH5_ENST00000394968.1_Missense_Mutation_p.L166F|KCNH5_ENST00000394964.2_Missense_Mutation_p.L166F	p.L224F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	6	938	-			224					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.670C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057117	0.76074	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.73962	2.25	0.80722	D	1	P;D;D;D	0.89917	0.927;0.996;0.996;1.0	P;P;P;D	0.97110	0.677;0.86;0.86;1.0	D	0.98727	1.0711	10	0.72032	D	0.01	.	12.5669	0.56314	0.0763:0.0:0.9237:0.0	.	166;166;224;224	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	F	224;224;166;166	ENSP00000321427:L224F;ENSP00000395439:L224F;ENSP00000378419:L166F;ENSP00000378415:L166F	ENSP00000321427:L224F	L	-	1	0	KCNH5	62517615	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.753000	0.74904	2.547000	0.85894	0.585000	0.79938	CTT		0.388	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		5	36	0	0	0	1	0	5	36				
TG	7038	broad.mit.edu	37	8	134072467	134072467	+	Intron	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:134072467G>A	ENST00000220616.4	+	41	7279				SLA_ENST00000518565.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.P20L|SLA_ENST00000517648.1_Intron|SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGACAGACGGGGAAAGTCAA	0.547																																						ENST00000427060.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(58-60)cCc>cTc		Src-like-adaptor							114.0	115.0	115.0					8																	134072467		692	1591	2283	SO:0001627	intron_variant	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134072467G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7239+30199G>A	8.37:g.134072467G>A						SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000518565.1_Intron	p.P20L	NM_006748.3	NP_006739.2	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		1	136	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	0					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.59C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	7.801	0.713719	0.15306	.	.	ENSG00000155926	ENST00000427060	T	0.77750	-1.12	5.29	-4.47	0.03525	.	.	.	.	.	T	0.65144	0.2663	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.55554	-0.8123	5	.	.	.	.	8.2886	0.31943	0.0:0.3046:0.4814:0.214	.	.	.	.	L	20	ENSP00000394049:P20L	.	P	-	2	0	SLA	134141649	0.000000	0.05858	0.000000	0.03702	0.371000	0.29859	-1.002000	0.03686	-1.256000	0.02478	0.462000	0.41574	CCC		0.547	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		12	40	0	0	0	1	0	12	40				
COPB2	9276	broad.mit.edu	37	3	139085612	139085612	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:139085612A>G	ENST00000333188.5	-	15	1863	c.1682T>C	c.(1681-1683)aTg>aCg	p.M561T	COPB2_ENST00000507777.1_Missense_Mutation_p.M532T	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	561					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TAGGAGATACATCGTCCTATA	0.408																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1681-1683)aTg>aCg		coatomer protein complex, subunit beta 2 (beta prime)							62.0	69.0	66.0					3																	139085612		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139085612A>G	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1682T>C	3.37:g.139085612A>G	ENSP00000329419:p.Met561Thr					COPB2_ENST00000507777.1_Missense_Mutation_p.M532T	p.M561T	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			15	1863	-			561					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.1682T>C	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811194	0.70797	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;D	0.89939	-0.08;-2.59	5.84	5.84	0.93424	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.91560	0.7334	M	0.91972	3.26	0.80722	D	1	B	0.32467	0.372	B	0.32022	0.139	D	0.91683	0.5360	10	0.72032	D	0.01	-11.6172	16.215	0.82206	1.0:0.0:0.0:0.0	.	561	P35606	COPB2_HUMAN	T	561;532	ENSP00000329419:M561T;ENSP00000422295:M532T	ENSP00000329419:M561T	M	-	2	0	COPB2	140568302	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	9.242000	0.95408	2.239000	0.73571	0.533000	0.62120	ATG		0.408	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		27	76	0	0	0	1	0	27	76				
ASPSCR1	79058	broad.mit.edu	37	17	79973010	79973010	+	Intron	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:79973010G>A	ENST00000306739.4	+	13	1450				ASPSCR1_ENST00000306729.7_Silent_p.L471L|ASPSCR1_ENST00000580534.1_Intron	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1						glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AACGGTGCCTGGGACCAGAGC	0.627			T	TFE3	alveolar soft part sarcoma																																	ENST00000306729.7				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(1411-1413)ctG>ctA		alveolar soft part sarcoma chromosome region, candidate 1							60.0	61.0	61.0					17																	79973010		876	1991	2867	SO:0001627	intron_variant	79058						protein binding	g.chr17:79973010G>A	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1354-1342G>A	17.37:g.79973010G>A						ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000306739.4_Intron	p.L471L	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		13	1510	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		481					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	c.1413G>A	CCDS11796.1																																																																																				0.627	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		7	36	0	0	0	1	0	7	36				
KRTAP19-2	337969	broad.mit.edu	37	21	31859652	31859652	+	Missense_Mutation	SNP	C	C	T	rs200992396		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr21:31859652C>T	ENST00000334055.3	-	1	103	c.16G>A	c.(16-18)Ggc>Agc	p.G6S		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	6						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CATCCACAGCCGTAGCCATAG	0.567													-|||	1	0.000199681	0.0	0.0	5008	,	,		16714	0.001		0.0	False		,,,				2504	0.0					ENST00000334055.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(16-18)Ggc>Agc		keratin associated protein 19-2							152.0	149.0	150.0					21																	31859652		2203	4300	6503	SO:0001583	missense	337969					intermediate filament		g.chr21:31859652C>T	AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"""Keratin associated proteins"""	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.16G>A	21.37:g.31859652C>T	ENSP00000335660:p.Gly6Ser						p.G6S	NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN			1	103	-			6						Missense_Mutation	SNP	ENST00000334055.3	37	c.16G>A	CCDS13595.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	-	3.607	-0.080455	0.07141	.	.	ENSG00000186965	ENST00000334055	T	0.18174	2.23	4.52	0.537	0.17144	.	0.410575	0.20614	N	0.088912	T	0.13286	0.0322	.	.	.	0.19775	N	0.999955	B	0.30542	0.284	B	0.33846	0.171	T	0.18713	-1.0328	9	0.87932	D	0	.	6.0179	0.19613	0.1526:0.6577:0.0:0.1897	.	6	Q3LHN2	KR192_HUMAN	S	6	ENSP00000335660:G6S	ENSP00000335660:G6S	G	-	1	0	KRTAP19-2	30781523	0.634000	0.27190	0.292000	0.24919	0.021000	0.10359	0.338000	0.19858	-0.008000	0.14320	-1.057000	0.02308	GGC		0.567	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3			39	74	0	0	0	1	0	39	74				
KCNT2	343450	broad.mit.edu	37	1	196309663	196309663	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:196309663T>C	ENST00000294725.9	-	16	2506	c.1591A>G	c.(1591-1593)Aat>Gat	p.N531D	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.N481D|KCNT2_ENST00000367431.4_Missense_Mutation_p.N481D|KCNT2_ENST00000451324.2_Missense_Mutation_p.N142D|KCNT2_ENST00000367433.5_Missense_Mutation_p.N531D			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	531	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGTTTTTATTATCCTCCCTC	0.303																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(1591-1593)Aat>Gat		potassium channel, subfamily T, member 2							59.0	59.0	59.0					1																	196309663		2203	4299	6502	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196309663T>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1591A>G	1.37:g.196309663T>C	ENSP00000294725:p.Asn531Asp					KCNT2_ENST00000367431.4_Missense_Mutation_p.N481D|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.N142D|KCNT2_ENST00000294725.8_Missense_Mutation_p.N531D	p.N531D			Q6UVM3	KCNT2_HUMAN			16	1692	-			531			RCK N-terminal.		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1591A>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178132	0.57692	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.29142	2.26;2.28;1.58;2.5	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	T	0.13970	0.0338	N	0.02142	-0.665	0.47949	D	0.999552	B;B;B;B;B	0.11235	0.004;0.001;0.0;0.001;0.004	B;B;B;B;B	0.10450	0.005;0.003;0.003;0.003;0.005	T	0.19778	-1.0295	10	0.16420	T	0.52	-29.9172	16.4116	0.83717	0.0:0.0:0.0:1.0	.	531;513;531;481;531	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	D	531;481;352;142;531	ENSP00000356403:N531D;ENSP00000356401:N481D;ENSP00000405474:N142D;ENSP00000294725:N531D	ENSP00000294725:N531D	N	-	1	0	KCNT2	194576286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.994000	0.88315	2.276000	0.75962	0.528000	0.53228	AAT		0.303	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		12	59	0	0	0	1	0	12	59				
STON1	11037	broad.mit.edu	37	2	48809319	48809319	+	Missense_Mutation	SNP	G	G	A	rs150634127	byFrequency	TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:48809319G>A	ENST00000406226.1	+	3	1742	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H	STON1_ENST00000404752.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R516H|STON1_ENST00000309835.3_Missense_Mutation_p.R516H	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	516	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.R516H(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGCTGATGCGTTTCAAGACT	0.413													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		20986	0.0		0.0	False		,,,				2504	0.0					ENST00000309835.3																			2	Substitution - Missense(2)	p.R516H(2)	endometrium(2)	NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1546-1548)cGt>cAt		stonin 1		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	169.0	163.0	165.0		1547,1547,1547,1547,1547	5.3	1.0	2	dbSNP_134	165	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	STON1,STON1-GTF2A1L	NM_001198593.1,NM_001198594.1,NM_001198595.1,NM_006873.3,NM_172311.2	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	516/1159,516/1136,516/736,516/736,516/1183	48809319	1,13005	2203	4300	6503	SO:0001583	missense	11037							g.chr2:48809319G>A	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1547G>A	2.37:g.48809319G>A	ENSP00000384615:p.Arg516His					STON1_ENST00000406226.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R516H|STON1_ENST00000404752.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R516H|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R516H	p.R516H					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1557	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1547G>A	CCDS1841.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	23.9	4.470023	0.84533	0.0	1.16E-4	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.3	5.3	0.74995	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.991;1.0;1.0	T	0.59380	-0.7465	10	0.87932	D	0	.	19.1532	0.93499	0.0:0.0:1.0:0.0	.	516;516;516	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	H	516	ENSP00000385273:R516H;ENSP00000384615:R516H;ENSP00000310969:R516H;ENSP00000385499:R516H;ENSP00000385701:R516H;ENSP00000378236:R516H;ENSP00000311493:R516H;ENSP00000378234:R516H	ENSP00000310969:R516H	R	+	2	0	STON1-GTF2A1L;STON1	48662823	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.645000	0.98471	2.769000	0.95229	0.655000	0.94253	CGT		0.413	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		5	89	0	0	0	1	0	5	89				
CDCA8	55143	broad.mit.edu	37	1	38158641	38158641	+	Silent	SNP	C	C	T	rs142159015		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:38158641C>T	ENST00000373055.1	+	2	432	c.159C>T	c.(157-159)ctC>ctT	p.L53L	C1orf109_ENST00000464085.1_5'Flank|C1orf109_ENST00000358011.4_5'Flank|CDCA8_ENST00000327331.2_Silent_p.L53L	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	53	Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with INCENP.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGATAACCTCTACAACATCG	0.577																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(157-159)ctC>ctT		cell division cycle associated 8		C		1,4405		0,1,2202	71.0	70.0	70.0		159	-2.8	1.0	1	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous	CDCA8	NM_018101.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		53/281	38158641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38158641C>T	BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.159C>T	1.37:g.38158641C>T						CDCA8_ENST00000327331.2_Silent_p.L53L	p.L53L	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			2	432	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	53			Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with INCENP.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Silent	SNP	ENST00000373055.1	37	c.159C>T	CCDS424.1																																																																																				0.577	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		6	53	0	0	0	1	0	6	53				
FNDC1	84624	broad.mit.edu	37	6	159672550	159672550	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:159672550G>A	ENST00000297267.9	+	17	5251	c.5051G>A	c.(5050-5052)gGa>gAa	p.G1684E	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1621E	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1684	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GCCACCCCAGGAGATGTGGTC	0.537																																						ENST00000297267.9																			0				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						c.(5050-5052)gGa>gAa		fibronectin type III domain containing 1							45.0	43.0	44.0					6																	159672550		2023	4180	6203	SO:0001583	missense	84624					extracellular region		g.chr6:159672550G>A	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.5051G>A	6.37:g.159672550G>A	ENSP00000297267:p.Gly1684Glu					FNDC1_ENST00000340366.6_Missense_Mutation_p.G1621E	p.G1684E	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	17	5251	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1684			Fibronectin type-III 5.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.5051G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999300	0.74818	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.58797	0.31;0.31	5.51	3.66	0.41972	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.400350	0.27280	N	0.020095	T	0.47021	0.1423	N	0.25144	0.715	0.38899	D	0.957289	D	0.71674	0.998	D	0.71870	0.975	T	0.47222	-0.9134	9	.	.	.	-12.991	10.5367	0.45009	0.0721:0.1348:0.7931:0.0	.	1684	Q4ZHG4	FNDC1_HUMAN	E	1684;1621	ENSP00000297267:G1684E;ENSP00000342460:G1621E	.	G	+	2	0	FNDC1	159592540	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.475000	0.81041	1.286000	0.44565	0.585000	0.79938	GGA		0.537	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		5	12	0	0	0	1	0	5	12				
SCAP	22937	broad.mit.edu	37	3	47470066	47470066	+	Missense_Mutation	SNP	C	C	T	rs540829159		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:47470066C>T	ENST00000265565.5	-	4	759	c.347G>A	c.(346-348)cGt>cAt	p.R116H	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	116					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CAAAGGTGAACGAAATACATC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		21664	0.0		0.0	False		,,,				2504	0.001				Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(346-348)cGt>cAt		SREBF chaperone							153.0	145.0	148.0					3																	47470066		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47470066C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.347G>A	3.37:g.47470066C>T	ENSP00000265565:p.Arg116His					SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Intron	p.R116H	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	4	759	-			116					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.347G>A	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	33	5.276219	0.95459	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000416847;ENST00000495603	D	0.88818	-2.43	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.94817	0.8326	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95015	0.8155	10	0.72032	D	0.01	-22.6183	19.0464	0.93020	0.0:1.0:0.0:0.0	.	116	Q12770	SCAP_HUMAN	H	116	ENSP00000265565:R116H	ENSP00000265565:R116H	R	-	2	0	SCAP	47445070	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	7.566000	0.82347	2.668000	0.90789	0.655000	0.94253	CGT		0.557	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		33	55	0	0	0	1	0	33	55				
SPEN	23013	broad.mit.edu	37	1	16258578	16258578	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:16258578C>T	ENST00000375759.3	+	11	6047	c.5843C>T	c.(5842-5844)cCt>cTt	p.P1948L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1948					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCACCACCCCTCGGAGGGGA	0.592																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(5842-5844)cCt>cTt		spen family transcriptional repressor							37.0	41.0	40.0					1																	16258578		2202	4300	6502	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16258578C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5843C>T	1.37:g.16258578C>T	ENSP00000364912:p.Pro1948Leu						p.P1948L	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6047	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1948					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.5843C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.540955	0.45280	.	.	ENSG00000065526	ENST00000375759	T	0.09911	2.93	4.8	4.8	0.61643	.	.	.	.	.	T	0.28665	0.0710	L	0.54323	1.7	0.58432	D	0.999991	D	0.71674	0.998	D	0.76071	0.987	T	0.00756	-1.1579	9	0.49607	T	0.09	-11.7997	16.3799	0.83452	0.0:1.0:0.0:0.0	.	1948	Q96T58	MINT_HUMAN	L	1948	ENSP00000364912:P1948L	ENSP00000364912:P1948L	P	+	2	0	SPEN	16131165	0.999000	0.42202	0.591000	0.28745	0.505000	0.33919	7.019000	0.76412	2.372000	0.80975	0.313000	0.20887	CCT		0.592	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		35	50	0	0	0	1	0	35	50				
B4GALNT3	283358	broad.mit.edu	37	12	675029	675029	+	IGR	SNP	T	T	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:675029T>C	ENST00000266383.5	+	0	5068				NINJ2_ENST00000305108.4_Intron|NINJ2_ENST00000433832.2_Missense_Mutation_p.I81V|NINJ2_ENST00000397265.3_Intron|NINJ2_ENST00000542920.1_Intron|NINJ2_ENST00000537416.1_5'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCTGTGCCAATGCAGGGTGGC	0.657																																						ENST00000433832.2																			0				large_intestine(3)|lung(1)|ovary(2)	6						c.(241-243)Att>Gtt		ninjurin 2																																				SO:0001628	intergenic_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:675029T>C	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.675029T>C						NINJ2_ENST00000397265.3_Intron|NINJ2_ENST00000305108.4_Intron|NINJ2_ENST00000537416.1_5'UTR|NINJ2_ENST00000542920.1_Intron	p.I81V			Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		2	441	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		0					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.241A>G	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	T	1.897	-0.454034	0.04540	.	.	ENSG00000171840	ENST00000433832	.	.	.	1.53	-3.06	0.05379	.	.	.	.	.	T	0.25419	0.0618	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24870	-1.0148	7	0.87932	D	0	.	2.1459	0.03787	0.4747:0.1747:0.0:0.3506	.	163	B4DJC1	.	V	81	.	ENSP00000415158:I81V	I	-	1	0	NINJ2	545290	0.000000	0.05858	0.003000	0.11579	0.029000	0.11900	-0.720000	0.04969	-0.938000	0.03714	0.358000	0.22013	ATT		0.657	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		12	13	0	0	0	1	0	12	13				
B4GALNT3	283358	broad.mit.edu	37	12	645442	645442	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:645442C>G	ENST00000266383.5	+	3	345	c.332C>G	c.(331-333)cCt>cGt	p.P111R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	111					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGGAACAAGCCTGTCCCCTGG	0.448																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(331-333)cCt>cGt		beta-1,4-N-acetyl-galactosaminyl transferase 3							177.0	153.0	161.0					12																	645442		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:645442C>G	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.332C>G	12.37:g.645442C>G	ENSP00000266383:p.Pro111Arg						p.P111R	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		3	345	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		111					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.332C>G	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134494	0.37630	.	.	ENSG00000139044	ENST00000266383	T	0.05139	3.49	5.61	5.61	0.85477	.	0.292285	0.33515	N	0.004834	T	0.14874	0.0359	L	0.43152	1.355	0.42079	D	0.991247	D	0.58268	0.982	P	0.55824	0.785	T	0.00165	-1.1967	10	0.54805	T	0.06	-7.2351	16.3571	0.83239	0.0:1.0:0.0:0.0	.	111	Q6L9W6	B4GN3_HUMAN	R	111	ENSP00000266383:P111R	ENSP00000266383:P111R	P	+	2	0	B4GALNT3	515703	0.985000	0.35326	0.702000	0.30337	0.220000	0.24768	4.145000	0.58065	2.663000	0.90544	0.555000	0.69702	CCT		0.448	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		33	45	0	0	0	1	0	33	45				
CACNA1C	775	broad.mit.edu	37	12	2760764	2760764	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:2760764C>G	ENST00000344100.3	+	32	3970	c.3970C>G	c.(3970-3972)Ctt>Gtt	p.L1324V	CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399591.1_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1363					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCACCCCCCTCTTGCTGTGCT	0.602																																						ENST00000344100.3																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(3970-3972)Ctt>Gtt		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						86.0	94.0	91.0					12																	2760764		2131	4239	6370	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2760764C>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000344100.3:c.3970C>G	12.37:g.2760764C>G	ENSP00000341092:p.Leu1324Val					CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000347598.4_Intron	p.L1324V			Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	32	3970	+			1363					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000344100.3	37	c.3970C>G	CCDS44792.1	.	.	.	.	.	.	.	.	.	.	C	3.771	-0.047586	0.07407	.	.	ENSG00000151067	ENST00000344100	D	0.95885	-3.84	4.86	3.95	0.45737	.	.	.	.	.	D	0.87087	0.6090	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.73898	-0.3837	8	0.09084	T	0.74	.	5.091	0.14708	0.1695:0.6204:0.0:0.21	.	1324	Q13936-14	.	V	1324	ENSP00000341092:L1324V	ENSP00000341092:L1324V	L	+	1	0	CACNA1C	2631025	0.274000	0.24191	0.002000	0.10522	0.636000	0.38137	1.083000	0.30815	0.997000	0.38969	0.491000	0.48974	CTT		0.602	CACNA1C-021	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317040.1	NM_000719		4	90	0	0	0	1	0	4	90				
SRRM2	23524	broad.mit.edu	37	16	2813759	2813759	+	Missense_Mutation	SNP	G	G	C	rs149404678		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:2813759G>C	ENST00000301740.8	+	11	3779	c.3230G>C	c.(3229-3231)aGa>aCa	p.R1077T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1077	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAGAAGTGAGACAGAGTCAT	0.483																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(3229-3231)aGa>aCa		serine/arginine repetitive matrix 2		G	THR/ARG	2,4394	4.2+/-10.8	0,2,2196	107.0	109.0	108.0		3230	-0.7	0.0	16	dbSNP_134	108	0,8600		0,0,4300	no	missense	SRRM2	NM_016333.3	71	0,2,6496	CC,CG,GG		0.0,0.0455,0.0154	benign	1077/2753	2813759	2,12994	2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2813759G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3230G>C	16.37:g.2813759G>C	ENSP00000301740:p.Arg1077Thr						p.R1077T	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	3779	+			1077			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.3230G>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	8.568	0.879473	0.17467	4.55E-4	0.0	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	D	0.92699	-3.09	5.58	-0.671	0.11381	.	0.722754	0.13748	N	0.365493	D	0.85017	0.5601	L	0.36672	1.1	0.09310	N	1	B	0.23058	0.079	B	0.21546	0.035	T	0.74581	-0.3618	10	0.52906	T	0.07	-0.0106	6.1289	0.20194	0.3426:0.0:0.531:0.1264	.	1077	Q9UQ35	SRRM2_HUMAN	T	1077;1077;329	ENSP00000301740:R1077T	ENSP00000301740:R1077T	R	+	2	0	SRRM2	2753760	0.020000	0.18652	0.026000	0.17262	0.892000	0.51952	-0.046000	0.11983	0.018000	0.15052	0.655000	0.94253	AGA		0.483	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			4	89	0	0	0	1	0	4	89				
ATP10D	57205	broad.mit.edu	37	4	47514744	47514744	+	Missense_Mutation	SNP	G	G	A	rs370135326		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:47514744G>A	ENST00000273859.3	+	2	456	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ATP10D_ENST00000504445.1_Missense_Mutation_p.E63K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	63					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTTCAAGGATGAGTATGAGAA	0.458																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(187-189)Gag>Aag		ATPase, class V, type 10D		G	LYS/GLU	0,4406		0,0,2203	88.0	86.0	87.0		187	5.1	0.9	4		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP10D	NM_020453.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	63/1427	47514744	1,13005	2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47514744G>A	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.187G>A	4.37:g.47514744G>A	ENSP00000273859:p.Glu63Lys					ATP10D_ENST00000504445.1_Missense_Mutation_p.E63K	p.E63K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			2	456	+			63					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.187G>A	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.617037	0.28801	0.0	1.16E-4	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.76186	-1.0;-1.0	5.1	5.1	0.69264	.	0.124327	0.52532	D	0.000067	T	0.67813	0.2933	L	0.41824	1.3	0.41546	D	0.988548	B;P	0.42827	0.409;0.791	B;B	0.39904	0.184;0.313	T	0.67522	-0.5649	10	0.28530	T	0.3	-11.506	17.8647	0.88792	0.0:0.0:1.0:0.0	.	63;63	Q9P241;Q6PEW3	AT10D_HUMAN;.	K	63	ENSP00000273859:E63K;ENSP00000420909:E63K	ENSP00000273859:E63K	E	+	1	0	ATP10D	47209501	1.000000	0.71417	0.945000	0.38365	0.120000	0.20174	5.981000	0.70524	2.519000	0.84933	0.557000	0.71058	GAG		0.458	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		4	52	0	0	0	1	0	4	52				
HSD17B6	8630	broad.mit.edu	37	12	57181028	57181028	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:57181028G>T	ENST00000554643.1	+	6	1205	c.856G>T	c.(856-858)Gat>Tat	p.D286Y	HSD17B6_ENST00000555805.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000554150.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000555159.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000322165.1_Missense_Mutation_p.D286Y			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	286					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	AGCTGGCTGGGATGCTAAATT	0.468																																						ENST00000554643.1																			0				endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(856-858)Gat>Tat		hydroxysteroid (17-beta) dehydrogenase 6	Succinic acid(DB00139)						127.0	103.0	111.0					12																	57181028		2203	4300	6503	SO:0001583	missense	8630				androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr12:57181028G>T	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.856G>T	12.37:g.57181028G>T	ENSP00000451406:p.Asp286Tyr					HSD17B6_ENST00000322165.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000554150.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000555805.1_Missense_Mutation_p.D286Y|HSD17B6_ENST00000555159.1_Missense_Mutation_p.D286Y	p.D286Y			O14756	H17B6_HUMAN			6	1205	+			286					O43275	Missense_Mutation	SNP	ENST00000554643.1	37	c.856G>T	CCDS8925.1	.	.	.	.	.	.	.	.	.	.	g	25.0	4.596579	0.86953	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000554150;ENST00000322165	D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07	4.97	4.97	0.65823	NAD(P)-binding domain (1);	0.108239	0.39909	N	0.001231	D	0.98005	0.9343	M	0.84948	2.725	0.58432	D	0.999999	D	0.71674	0.998	D	0.65323	0.934	D	0.98338	1.0537	10	0.54805	T	0.06	.	17.152	0.86780	0.0:0.0:1.0:0.0	.	286	O14756	H17B6_HUMAN	Y	286	ENSP00000450698:D286Y;ENSP00000451753:D286Y;ENSP00000451406:D286Y;ENSP00000452273:D286Y;ENSP00000318631:D286Y	ENSP00000318631:D286Y	D	+	1	0	HSD17B6	55467295	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	5.896000	0.69822	2.570000	0.86706	0.651000	0.88453	GAT		0.468	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	NM_003725		11	41	1	0	3.86212e-05	1	3.99622e-05	11	41				
DHRS7B	25979	broad.mit.edu	37	17	21075498	21075498	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:21075498G>A	ENST00000395511.3	+	2	508	c.188G>A	c.(187-189)gGg>gAg	p.G63E	DHRS7B_ENST00000579303.1_Missense_Mutation_p.G48E	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	63						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						GCCACCTCAGGGCTGGGCAAA	0.687																																						ENST00000395511.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.(187-189)gGg>gAg		dehydrogenase/reductase (SDR family) member 7B							19.0	19.0	19.0					17																	21075498		2203	4300	6503	SO:0001583	missense	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21075498G>A	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.188G>A	17.37:g.21075498G>A	ENSP00000378887:p.Gly63Glu					DHRS7B_ENST00000579303.1_Missense_Mutation_p.G48E	p.G63E	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN			2	508	+			63					B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Missense_Mutation	SNP	ENST00000395511.3	37	c.188G>A	CCDS11215.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599574	0.46318	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	T	0.69306	-0.39	5.71	5.71	0.89125	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91036	0.7180	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94752	0.7928	10	0.87932	D	0	.	19.857	0.96762	0.0:0.0:1.0:0.0	.	63	Q6IAN0	DRS7B_HUMAN	E	63	ENSP00000378887:G63E	ENSP00000320352:G63E	G	+	2	0	DHRS7B	21016090	1.000000	0.71417	0.274000	0.24659	0.865000	0.49528	7.434000	0.80377	2.703000	0.92315	0.655000	0.94253	GGG		0.687	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510		3	13	0	0	0	1	0	3	13				
FRS2	10818	broad.mit.edu	37	12	69968445	69968445	+	Missense_Mutation	SNP	C	C	T	rs112443855		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:69968445C>T	ENST00000550389.1	+	7	1483	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	FRS2_ENST00000549921.1_Missense_Mutation_p.R413W|FRS2_ENST00000299293.2_Missense_Mutation_p.R413W|FRS2_ENST00000397997.2_Missense_Mutation_p.R413W	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	413					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTCAAGGCGTCGGGACTGTAC	0.398																																						ENST00000299293.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1237-1239)Cgg>Tgg		fibroblast growth factor receptor substrate 2							63.0	65.0	64.0					12																	69968445		1985	4166	6151	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968445C>T	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1237C>T	12.37:g.69968445C>T	ENSP00000447241:p.Arg413Trp					FRS2_ENST00000397997.2_Missense_Mutation_p.R413W|FRS2_ENST00000549921.1_Missense_Mutation_p.R413W|FRS2_ENST00000550389.1_Missense_Mutation_p.R413W	p.R413W	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1747	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		413					B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.1237C>T	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341200	0.60963	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	6.17	3.26	0.37387	.	0.107337	0.64402	N	0.000006	T	0.25568	0.0622	L	0.43923	1.385	0.41309	D	0.987098	D	0.65815	0.995	B	0.43225	0.412	T	0.01874	-1.1256	9	.	.	.	-2.4677	9.737	0.40395	0.2608:0.6742:0.0:0.065	.	413	Q8WU20	FRS2_HUMAN	W	413	ENSP00000299293:R413W;ENSP00000450048:R413W;ENSP00000447241:R413W;ENSP00000381083:R413W	.	R	+	1	2	FRS2	68254712	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.690000	0.47001	0.411000	0.25702	0.655000	0.94253	CGG		0.398	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		291	870	0	0	0	1	0	291	870				
MIR518F	574472	broad.mit.edu	37	19	54206032	54206032	+	RNA	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:54206032G>A	ENST00000384973.1	+	0	87				MIR520B_ENST00000384989.1_RNA|MIR518B_ENST00000385127.1_RNA	NR_030194.1				microRNA 518f																		TCTGTTGTCTGAAAGAAAACA	0.448																																						ENST00000385127.1																			0																				74.0	70.0	71.0					19																	54206032		1568	3582	5150			574474							g.chr19:54206032G>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54206032G>A								NR_030196.1						0	42	+									RNA	SNP	ENST00000384973.1	37																																																																																						0.448	MIR518F-201	KNOWN	basic	miRNA	miRNA		NR_030194		14	25	0	0	0	1	0	14	25				
FAT2	2196	broad.mit.edu	37	5	150920153	150920153	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr5:150920153T>A	ENST00000261800.5	-	10	9026	c.9014A>T	c.(9013-9015)aAt>aTt	p.N3005I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3005	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGTTATCATTGACGTCCAG	0.542																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9013-9015)aAt>aTt		FAT atypical cadherin 2							89.0	75.0	80.0					5																	150920153		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150920153T>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9014A>T	5.37:g.150920153T>A	ENSP00000261800:p.Asn3005Ile						p.N3005I	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	9026	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3005			Cadherin 26.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9014A>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575300	0.86645	.	.	ENSG00000086570	ENST00000261800	T	0.75938	-0.98	5.12	5.12	0.69794	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000003	D	0.91523	0.7323	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94691	0.7874	10	0.87932	D	0	.	14.9294	0.70903	0.0:0.0:0.0:1.0	.	3005	Q9NYQ8	FAT2_HUMAN	I	3005	ENSP00000261800:N3005I	ENSP00000261800:N3005I	N	-	2	0	FAT2	150900346	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.975000	0.88055	1.945000	0.56424	0.379000	0.24179	AAT		0.542	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	17	0	0	0	1	0	7	17				
FAM188B	84182	broad.mit.edu	37	7	30890112	30890112	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:30890112C>T	ENST00000265299.6	+	10	1565	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	AQP1_ENST00000434909.2_5'Flank|AQP1_ENST00000509504.1_5'Flank|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	496										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGCCTCGTCCTGGCCCTCG	0.602																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1486-1488)gtC>gtT		family with sequence similarity 188, member B							63.0	83.0	76.0					7																	30890112		2076	4207	6283	SO:0001819	synonymous_variant	84182							g.chr7:30890112C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1488C>T	7.37:g.30890112C>T						INMT-FAM188B_ENST00000458257.1_3'UTR	p.V496V	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			10	1565	+			496					Q71AZ7|Q9H6D2	Silent	SNP	ENST00000265299.6	37	c.1488C>T	CCDS43565.1																																																																																				0.602	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		6	21	0	0	0	1	0	6	21				
FER1L6	654463	broad.mit.edu	37	8	125131953	125131953	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:125131953C>T	ENST00000522917.1	+	41	5702	c.5496C>T	c.(5494-5496)atC>atT	p.I1832I	FER1L6_ENST00000399018.1_Silent_p.I1832I|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1832						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			tcattctcatcatcctcatca	0.468																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(5494-5496)atC>atT		fer-1-like 6 (C. elegans)							230.0	244.0	239.0					8																	125131953		2083	4204	6287	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125131953C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5496C>T	8.37:g.125131953C>T						FER1L6_ENST00000399018.1_Silent_p.I1832I|FER1L6-AS2_ENST00000520031.1_RNA	p.I1832I	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		41	5702	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1832						Silent	SNP	ENST00000522917.1	37	c.5496C>T	CCDS43767.1																																																																																				0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		5	111	0	0	0	1	0	5	111				
UBE2R2	54926	broad.mit.edu	37	9	33911983	33911983	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr9:33911983C>G	ENST00000263228.3	+	4	575	c.384C>G	c.(382-384)atC>atG	p.I128M	RP11-176F3.7_ENST00000414426.3_RNA	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	128					protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		TAAGTGTAATCTCACTGCTTA	0.363																																						ENST00000263228.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(382-384)atC>atG		ubiquitin-conjugating enzyme E2R 2							118.0	112.0	114.0					9																	33911983		2203	4300	6503	SO:0001583	missense	54926				protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity	g.chr9:33911983C>G	AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797	ENST00000263228.3:c.384C>G	9.37:g.33911983C>G	ENSP00000263228:p.Ile128Met						p.I128M	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)	4	575	+			128					D3DRL5|Q9NX64	Missense_Mutation	SNP	ENST00000263228.3	37	c.384C>G	CCDS6546.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.768878	0.69878	.	.	ENSG00000107341	ENST00000263228	T	0.38560	1.13	6.17	4.3	0.51218	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	M	0.64997	1.995	0.80722	D	1	P	0.45672	0.864	P	0.51833	0.681	T	0.48927	-0.8991	10	0.72032	D	0.01	-4.4781	7.1563	0.25639	0.1317:0.6771:0.1264:0.0649	.	128	Q712K3	UB2R2_HUMAN	M	128	ENSP00000263228:I128M	ENSP00000263228:I128M	I	+	3	3	UBE2R2	33901983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.716000	0.47219	0.899000	0.36444	-0.169000	0.13324	ATC		0.363	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811		38	14	0	0	0	1	0	38	14				
ZNF566	84924	broad.mit.edu	37	19	36964259	36964259	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:36964259C>T	ENST00000434377.2	-	3	192	c.111G>A	c.(109-111)gaG>gaA	p.E37E	ZNF566_ENST00000454319.1_Silent_p.E37E|ZNF566_ENST00000424129.2_Silent_p.E37E|ZNF566_ENST00000392170.2_Silent_p.E37E|ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000472909.2_Intron	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	37	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)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGCTGTAATTCTCCAACATCA	0.438																																						ENST00000454319.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(109-111)gaG>gaA		zinc finger protein 566							169.0	152.0	158.0					19																	36964259		2203	4300	6503	SO:0001819	synonymous_variant	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36964259C>T	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.111G>A	19.37:g.36964259C>T						ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000424129.2_Silent_p.E37E|ZNF566_ENST00000392170.2_Silent_p.E37E|ZNF566_ENST00000434377.2_Silent_p.E37E	p.E37E	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN			3	245	-	Esophageal squamous(110;0.162)		37			KRAB.		B7ZL95|Q2M3J1	Silent	SNP	ENST00000434377.2	37	c.111G>A	CCDS12494.1																																																																																				0.438	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		7	93	0	0	0	1	0	7	93				
NAV3	89795	broad.mit.edu	37	12	78516170	78516170	+	Silent	SNP	C	C	T	rs374863435		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:78516170C>T	ENST00000397909.2	+	16	4373	c.4200C>T	c.(4198-4200)ctC>ctT	p.L1400L	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Silent_p.L1400L|NAV3_ENST00000536525.2_Silent_p.L1400L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1400	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAGCCTGCTCATGAGAACGG	0.552										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(4198-4200)ctC>ctT		neuron navigator 3		C		1,4049		0,1,2024	107.0	99.0	101.0		4200	6.0	1.0	12		101	0,8368		0,0,4184	no	coding-synonymous	NAV3	NM_014903.4		0,1,6208	TT,TC,CC		0.0,0.0247,0.0081		1400/2364	78516170	1,12417	2025	4184	6209	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78516170C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4200C>T	12.37:g.78516170C>T		HNSCC(70;0.22)				NAV3_ENST00000536525.2_Silent_p.L1400L|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Silent_p.L1400L	p.L1400L			Q8IVL0	NAV3_HUMAN			16	4373	+			1400			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.4200C>T																																																																																					0.552	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		4	78	0	0	0	1	0	4	78				
NYAP1	222950	broad.mit.edu	37	7	100084694	100084694	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:100084694G>A	ENST00000300179.2	+	3	478	c.319G>A	c.(319-321)Gag>Aag	p.E107K	NYAP1_ENST00000423930.1_Missense_Mutation_p.E107K|NYAP1_ENST00000454988.1_Missense_Mutation_p.E50K	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	107	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGGCCTCACAGAGGACAGCAG	0.721																																						ENST00000423930.1																			0											c.(319-321)Gag>Aag		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							18.0	24.0	22.0					7																	100084694		2195	4285	6480	SO:0001583	missense	222950							g.chr7:100084694G>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.319G>A	7.37:g.100084694G>A	ENSP00000300179:p.Glu107Lys					NYAP1_ENST00000454988.1_Missense_Mutation_p.E50K|NYAP1_ENST00000300179.2_Missense_Mutation_p.E107K	p.E107K			Q6ZVC0	CG051_HUMAN			3	478	+			107					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.319G>A	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133423	0.56828	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.42131	0.98;0.98;0.98	5.55	4.62	0.57501	.	0.124401	0.36555	N	0.002537	T	0.27278	0.0669	N	0.14661	0.345	0.39567	D	0.969221	P	0.40476	0.718	B	0.39258	0.295	T	0.09930	-1.0652	10	0.34782	T	0.22	-27.7003	13.586	0.61931	0.0:0.1571:0.8429:0.0	.	107	Q6ZVC0	CG051_HUMAN	K	107;107;50	ENSP00000300179:E107K;ENSP00000411861:E107K;ENSP00000394424:E50K	ENSP00000300179:E107K	E	+	1	0	C7orf51	99922630	1.000000	0.71417	0.985000	0.45067	0.707000	0.40811	5.303000	0.65738	2.606000	0.88127	0.462000	0.41574	GAG		0.721	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		5	41	0	0	0	1	0	5	41				
ACSM1	116285	broad.mit.edu	37	16	20648476	20648476	+	Intron	SNP	T	T	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:20648476T>A	ENST00000307493.4	-	8	1265				ACSM1_ENST00000219151.4_Splice_Site_p.S46C|ACSM1_ENST00000520010.1_Intron	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCTACCTACTGTGTGTGATG	0.453																																						ENST00000219151.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.e9+1		acyl-CoA synthetase medium-chain family member 1							159.0	148.0	151.0					16																	20648476		876	1991	2867	SO:0001627	intron_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20648476T>A	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1197+216A>T	16.37:g.20648476T>A						ACSM1_ENST00000520010.1_Intron|ACSM1_ENST00000307493.4_Intron	p.S46_splice			Q08AH1	ACSM1_HUMAN			9	1346	-			399					Q08AH2|Q96A20	Splice_Site	SNP	ENST00000307493.4	37	c.136_splice	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	t	13.56	2.274322	0.40194	.	.	ENSG00000166743	ENST00000219151	T	0.50813	0.73	3.77	-1.9	0.07665	.	.	.	.	.	T	0.41488	0.1161	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45614	-0.9249	6	0.87932	D	0	.	4.8038	0.13310	0.0:0.4342:0.2041:0.3617	.	.	.	.	C	46	ENSP00000219151:S46C	ENSP00000219151:S46C	S	-	1	0	ACSM1	20555977	0.000000	0.05858	0.003000	0.11579	0.084000	0.17831	-0.079000	0.11357	-0.380000	0.07894	-0.363000	0.07495	AGC		0.453	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		34	45	0	0	0	1	0	34	45				
TONSL	4796	broad.mit.edu	37	8	145657761	145657761	+	Silent	SNP	G	G	A	rs34599999	byFrequency	TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:145657761G>A	ENST00000409379.3	-	23	3671	c.3642C>T	c.(3640-3642)ccC>ccT	p.P1214P	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1214					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.P1214P(1)|p.P1055P(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGGTGCCGGCGGGCAGGCTCT	0.647													G|||	30	0.00599042	0.0061	0.0058	5008	,	,		15070	0.0		0.0129	False		,,,				2504	0.0051					ENST00000409379.3																			2	Substitution - coding silent(2)	p.P1214P(1)|p.P1055P(1)	lung(2)	biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(3640-3642)ccC>ccT		tonsoku-like, DNA repair protein		G		26,4380	33.5+/-64.1	0,26,2177	60.0	67.0	65.0		3642	-10.1	0.0	8	dbSNP_126	65	144,8456	71.0+/-133.6	0,144,4156	no	coding-synonymous	TONSL	NM_013432.4		0,170,6333	AA,AG,GG		1.6744,0.5901,1.3071		1214/1379	145657761	170,12836	2203	4300	6503	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145657761G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3642C>T	8.37:g.145657761G>A							p.P1214P	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			23	3671	-			1214					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.3642C>T	CCDS34968.2																																																																																				0.647	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		4	76	0	0	0	1	0	4	76				
PPP1R32	220004	broad.mit.edu	37	11	61252826	61252826	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:61252826C>T	ENST00000338608.2	+	6	652	c.527C>T	c.(526-528)aCg>aTg	p.T176M	RP11-286N22.8_ENST00000544880.1_3'UTR|PPP1R32_ENST00000432063.2_Missense_Mutation_p.T176M	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	176							phosphatase binding (GO:0019902)										CGCTTCATGACGTCGGAGTAC	0.622																																						ENST00000338608.2																			0											c.(526-528)aCg>aTg		protein phosphatase 1, regulatory subunit 32							107.0	95.0	99.0					11																	61252826		2202	4299	6501	SO:0001583	missense	220004							g.chr11:61252826C>T	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.527C>T	11.37:g.61252826C>T	ENSP00000344140:p.Thr176Met					PPP1R32_ENST00000432063.2_Missense_Mutation_p.T176M|RP11-286N22.8_ENST00000544880.1_3'UTR	p.T176M	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN			6	652	+			176					Q4G0P4|Q96M77	Missense_Mutation	SNP	ENST00000338608.2	37	c.527C>T	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985219	0.35036	.	.	ENSG00000162148	ENST00000432063;ENST00000338608	T;T	0.46819	0.86;1.44	4.92	2.94	0.34122	.	0.196116	0.35291	N	0.003306	T	0.63129	0.2485	M	0.70595	2.14	0.30027	N	0.813775	D;D	0.89917	1.0;1.0	D;D	0.76575	0.969;0.988	T	0.62096	-0.6926	10	0.72032	D	0.01	-21.1765	9.22	0.37370	0.1641:0.6777:0.1582:0.0	.	176;176	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	M	176	ENSP00000391560:T176M;ENSP00000344140:T176M	ENSP00000344140:T176M	T	+	2	0	C11orf66	61009402	0.905000	0.30787	0.879000	0.34478	0.196000	0.23810	1.785000	0.38684	1.044000	0.40200	-0.502000	0.04539	ACG		0.622	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		9	38	0	0	0	1	0	9	38				
RSF1	51773	broad.mit.edu	37	11	77412477	77412477	+	Silent	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:77412477G>A	ENST00000308488.6	-	6	2099	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	RSF1_ENST00000360355.2_Silent_p.D568D|RSF1_ENST00000480887.1_Silent_p.D347D			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	599					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ATCTTTGTGCGTCCTTATCAA	0.428																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1795-1797)gaC>gaT		remodeling and spacing factor 1							131.0	132.0	132.0					11																	77412477		2200	4292	6492	SO:0001819	synonymous_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412477G>A	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1797C>T	11.37:g.77412477G>A						RSF1_ENST00000480887.1_Silent_p.D347D|RSF1_ENST00000360355.2_Silent_p.D568D	p.D599D			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2099	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		599					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	c.1797C>T	CCDS8253.1																																																																																				0.428	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		25	87	0	0	0	1	0	25	87				
FAM208B	54906	broad.mit.edu	37	10	5791016	5791016	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr10:5791016G>C	ENST00000328090.5	+	15	6257	c.5632G>C	c.(5632-5634)Gag>Cag	p.E1878Q		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1878																	CAACAACCAAGAGGACTGGGG	0.512																																						ENST00000328090.5																			0											c.(5632-5634)Gag>Cag		family with sequence similarity 208, member B							38.0	39.0	39.0					10																	5791016		1964	4135	6099	SO:0001583	missense	54906							g.chr10:5791016G>C	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.5632G>C	10.37:g.5791016G>C	ENSP00000328426:p.Glu1878Gln						p.E1878Q	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	6257	+			1878					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.5632G>C	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132093	0.37630	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.07567	3.18	5.82	3.97	0.46021	.	0.845099	0.10628	N	0.652545	T	0.10208	0.0250	L	0.53249	1.67	0.09310	N	1	P	0.38250	0.624	B	0.35727	0.209	T	0.21724	-1.0237	10	0.46703	T	0.11	.	9.1426	0.36912	0.0779:0.1465:0.7756:0.0	.	1878	Q5VWN6	F208B_HUMAN	Q	1878;1073	ENSP00000328426:E1878Q	ENSP00000328426:E1878Q	E	+	1	0	C10orf18	5831022	0.014000	0.17966	0.001000	0.08648	0.001000	0.01503	1.579000	0.36536	0.806000	0.34183	-0.253000	0.11424	GAG		0.512	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		16	42	0	0	0	1	0	16	42				
TBC1D9	23158	broad.mit.edu	37	4	141590935	141590935	+	Silent	SNP	G	G	A	rs372798452		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:141590935G>A	ENST00000442267.2	-	8	1364	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	430							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGAGGAGACGAGGCTGCTGG	0.537																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1288-1290)ctC>ctT		TBC1 domain family, member 9 (with GRAM domain)		G		1,4135		0,1,2067	58.0	63.0	61.0		1290	-7.9	0.0	4		61	0,8422		0,0,4211	no	coding-synonymous	TBC1D9	NM_015130.2		0,1,6278	AA,AG,GG		0.0,0.0242,0.0080		430/1267	141590935	1,12557	2068	4211	6279	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141590935G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1290C>T	4.37:g.141590935G>A							p.L430L	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			8	1364	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	430					A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.1290C>T	CCDS47136.1																																																																																				0.537	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		4	30	0	0	0	1	0	4	30				
PML	5371	broad.mit.edu	37	15	74290542	74290542	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr15:74290542C>T	ENST00000268058.3	+	2	423	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PML_ENST00000435786.2_Silent_p.F109F|PML_ENST00000569477.1_Silent_p.F109F|PML_ENST00000354026.6_Silent_p.F109F|PML_ENST00000395135.3_Silent_p.F109F|PML_ENST00000268059.6_Silent_p.F109F|PML_ENST00000395132.2_Silent_p.F109F|PML_ENST00000565898.1_Silent_p.F109F|PML_ENST00000436891.3_Silent_p.F109F|PML_ENST00000567543.1_Silent_p.F109F|PML_ENST00000359928.4_Silent_p.F109F|PML_ENST00000564428.1_Silent_p.F109F|PML_ENST00000563500.1_Silent_p.F109F|PML_ENST00000569965.1_Silent_p.F109F	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	109					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ACGTCTTTTTCGAGAGTCTGC	0.632			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(325-327)ttC>ttT		promyelocytic leukemia							48.0	43.0	45.0					15																	74290542		2198	4297	6495	SO:0001819	synonymous_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74290542C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.327C>T	15.37:g.74290542C>T						PML_ENST00000563500.1_Silent_p.F109F|PML_ENST00000436891.3_Silent_p.F109F|PML_ENST00000435786.2_Silent_p.F109F|PML_ENST00000395132.2_Silent_p.F109F|PML_ENST00000395135.3_Silent_p.F109F|PML_ENST00000359928.4_Silent_p.F109F|PML_ENST00000354026.6_Silent_p.F109F|PML_ENST00000268058.3_Silent_p.F109F|PML_ENST00000268059.6_Silent_p.F109F|PML_ENST00000569965.1_Silent_p.F109F|PML_ENST00000569477.1_Silent_p.F109F|PML_ENST00000567543.1_Silent_p.F109F|PML_ENST00000564428.1_Silent_p.F109F	p.F109F			P29590	PML_HUMAN			2	411	+			109					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	c.327C>T	CCDS10255.1																																																																																				0.632	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		15	32	0	0	0	1	0	15	32				
KRIT1	889	broad.mit.edu	37	7	91871385	91871385	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:91871385C>A	ENST00000340022.2	-	4	1083	c.65G>T	c.(64-66)aGt>aTt	p.S22I	KRIT1_ENST00000466166.1_5'Flank|KRIT1_ENST00000394507.1_Missense_Mutation_p.S22I|KRIT1_ENST00000412043.2_Missense_Mutation_p.S22I|KRIT1_ENST00000394505.2_Missense_Mutation_p.S22I|KRIT1_ENST00000394503.2_Missense_Mutation_p.S22I	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	22	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAATTGAGACTGGCAGTATT	0.303																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(64-66)aGt>aTt		KRIT1, ankyrin repeat containing							140.0	147.0	145.0					7																	91871385		2203	4298	6501	SO:0001583	missense	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91871385C>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.65G>T	7.37:g.91871385C>A	ENSP00000344668:p.Ser22Ile					KRIT1_ENST00000394503.2_Missense_Mutation_p.S22I|KRIT1_ENST00000340022.2_Missense_Mutation_p.S22I|KRIT1_ENST00000394505.2_Missense_Mutation_p.S22I|KRIT1_ENST00000412043.2_Missense_Mutation_p.S22I	p.S22I	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		5	848	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		22					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.65G>T	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	C	34	5.410936	0.96072	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017;ENST00000440209;ENST00000430102;ENST00000413688;ENST00000458493;ENST00000452773;ENST00000425919;ENST00000444960;ENST00000422347	T;T;T;T;T;D;D;D	0.88354	0.75;0.75;0.75;0.75;-0.88;-2.37;-2.07;-2.1	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.91918	0.7441	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.974	D	0.90565	0.4518	10	0.40728	T	0.16	-4.9253	20.6593	0.99626	0.0:1.0:0.0:0.0	.	22;22	A6NNU0;O00522	.;KRIT1_HUMAN	I	22	ENSP00000378015:S22I;ENSP00000344668:S22I;ENSP00000410909:S22I;ENSP00000378013:S22I;ENSP00000378011:S22I;ENSP00000391675:S22I;ENSP00000410104:S22I;ENSP00000405835:S22I	ENSP00000344668:S22I	S	-	2	0	KRIT1	91709321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.112000	0.77086	2.885000	0.99019	0.655000	0.94253	AGT		0.303	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			61	274	1	0	4.46356e-37	1	4.96321e-37	61	274				
ZNF831	128611	broad.mit.edu	37	20	57769098	57769098	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr20:57769098C>T	ENST00000371030.2	+	1	3024	c.3024C>T	c.(3022-3024)ccC>ccT	p.P1008P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1008							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGAGGACCCCAGCTGTTCCA	0.647																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3022-3024)ccC>ccT		zinc finger protein 831							32.0	34.0	33.0					20																	57769098		1952	4145	6097	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769098C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3024C>T	20.37:g.57769098C>T							p.P1008P	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3024	+	all_lung(29;0.0085)		1008					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3024C>T	CCDS42894.1																																																																																				0.647	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		4	28	0	0	0	1	0	4	28				
DLC1	10395	broad.mit.edu	37	8	12957357	12957357	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:12957357G>A	ENST00000276297.4	-	9	2898	c.2489C>T	c.(2488-2490)tCg>tTg	p.S830L	DLC1_ENST00000358919.2_Missense_Mutation_p.S393L|DLC1_ENST00000520226.1_Missense_Mutation_p.S319L|DLC1_ENST00000512044.2_Missense_Mutation_p.S427L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	830	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTTATTCCCCGAGGGGGAGAA	0.577																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2488-2490)tCg>tTg		deleted in liver cancer 1							94.0	97.0	96.0					8																	12957357		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957357G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2489C>T	8.37:g.12957357G>A	ENSP00000276297:p.Ser830Leu					DLC1_ENST00000520226.1_Missense_Mutation_p.S319L|DLC1_ENST00000358919.2_Missense_Mutation_p.S393L|DLC1_ENST00000512044.2_Missense_Mutation_p.S427L	p.S830L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2898	-			830					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2489C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352893	0.24512	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.05855	3.62;3.38;3.38;3.38	5.11	5.11	0.69529	.	0.738757	0.13198	N	0.406194	T	0.07999	0.0200	L	0.34521	1.04	0.50171	D	0.999851	B;B;B	0.22080	0.06;0.017;0.064	B;B;B	0.13407	0.006;0.009;0.008	T	0.40059	-0.9583	10	0.33940	T	0.23	.	19.1213	0.93365	0.0:0.0:1.0:0.0	.	830;427;393	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	L	830;393;427;319	ENSP00000276297:S830L;ENSP00000351797:S393L;ENSP00000422595:S427L;ENSP00000428028:S319L	ENSP00000276297:S830L	S	-	2	0	DLC1	13001728	0.260000	0.24053	0.017000	0.16124	0.985000	0.73830	3.403000	0.52615	2.832000	0.97577	0.655000	0.94253	TCG		0.577	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	57	0	0	0	1	0	4	57				
RCAN3	11123	broad.mit.edu	37	1	24859680	24859680	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:24859680G>C	ENST00000374395.4	+	4	790	c.477G>C	c.(475-477)caG>caC	p.Q159H	RCAN3_ENST00000538532.1_Missense_Mutation_p.Q101H|RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000436717.2_Missense_Mutation_p.Q149H	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	159					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GGTGGAAGCAGAGCGAAGATG	0.507																																						ENST00000374395.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7						c.(475-477)caG>caC		RCAN family member 3							80.0	81.0	81.0					1																	24859680		2203	4300	6503	SO:0001583	missense	11123				anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	g.chr1:24859680G>C		CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.477G>C	1.37:g.24859680G>C	ENSP00000363516:p.Gln159His					RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000538532.1_Missense_Mutation_p.Q101H|RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000436717.2_Missense_Mutation_p.Q149H	p.Q159H	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)	4	790	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	159					A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	ENST00000374395.4	37	c.477G>C	CCDS254.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295076	0.60086	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000538532	T;T;T	0.53640	0.71;0.7;0.61	5.46	5.46	0.80206	.	0.120414	0.64402	D	0.000016	T	0.71341	0.3328	M	0.84846	2.72	0.80722	D	1	D;D;D	0.64830	0.994;0.971;0.971	D;P;P	0.69479	0.964;0.771;0.837	T	0.75246	-0.3385	10	0.66056	D	0.02	-7.0666	16.0388	0.80650	0.0:0.1343:0.8657:0.0	.	101;149;159	A4GU14;Q9UKA8-2;Q9UKA8	.;.;RCAN3_HUMAN	H	159;149;101	ENSP00000363516:Q159H;ENSP00000414447:Q149H;ENSP00000445401:Q101H	ENSP00000363516:Q159H	Q	+	3	2	RCAN3	24732267	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	3.739000	0.55075	2.742000	0.94016	0.558000	0.71614	CAG		0.507	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009176.2			16	25	0	0	0	1	0	16	25				
EFHC2	80258	broad.mit.edu	37	X	44171825	44171825	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chrX:44171825A>T	ENST00000420999.1	-	2	303	c.220T>A	c.(220-222)Ttt>Att	p.F74I		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	74							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TGTTTATCAAAGGCTACCCAT	0.403																																						ENST00000420999.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(220-222)Ttt>Att		EF-hand domain (C-terminal) containing 2							160.0	139.0	146.0					X																	44171825		1920	4113	6033	SO:0001583	missense	80258						calcium ion binding	g.chrX:44171825A>T	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.220T>A	X.37:g.44171825A>T	ENSP00000404232:p.Phe74Ile						p.F74I	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN			2	303	-			74					Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	c.220T>A	CCDS55405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.3|21.3	4.130515|4.130515	0.77549|0.77549	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000333807;ENST00000420999|ENST00000441230	T;T|.	0.69926|.	-0.42;-0.44|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.061184|.	0.64402|.	D|.	0.000002|.	T|T	0.77089|0.77089	0.4079|0.4079	M|M	0.84326|0.84326	2.69|2.69	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.89917|.	1.0|.	D|.	0.75484|.	0.986|.	T|T	0.79482|0.79482	-0.1785|-0.1785	10|5	0.56958|.	D|.	0.05|.	-16.2352|-16.2352	14.0392|14.0392	0.64665|0.64665	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	74|.	Q5JST6|.	EFHC2_HUMAN|.	I|H	74;102|54	ENSP00000333823:F74I;ENSP00000404232:F102I|.	ENSP00000333823:F74I|.	F|L	-|-	1|2	0|0	EFHC2|EFHC2	44056769|44056769	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.706000|0.706000	0.40770|0.40770	7.853000|7.853000	0.86934|0.86934	1.773000|1.773000	0.52216|0.52216	0.417000|0.417000	0.27973|0.27973	TTT|CTT		0.403	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		6	7	0	0	0	1	0	6	7				
MYO5B	4645	broad.mit.edu	37	18	47563359	47563359	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:47563359C>T	ENST00000285039.7	-	4	615	c.316G>A	c.(316-318)Gta>Ata	p.V106I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	106	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCAACAAGTACGATACCTGCA	0.453																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(316-318)Gta>Ata		myosin VB							114.0	106.0	109.0					18																	47563359		2019	4187	6206	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47563359C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.316G>A	18.37:g.47563359C>T	ENSP00000285039:p.Val106Ile						p.V106I	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	4	615	-			106			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.316G>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198969	0.79015	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.88046	-2.33	5.52	5.52	0.82312	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.76292	0.3967	N	0.12746	0.255	0.80722	D	1	P;P	0.41569	0.746;0.755	B;B	0.38712	0.28;0.227	T	0.75323	-0.3358	10	0.10111	T	0.7	.	18.3797	0.90446	0.0:1.0:0.0:0.0	.	105;106	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	I	106;105	ENSP00000285039:V106I	ENSP00000285039:V106I	V	-	1	0	MYO5B	45817357	1.000000	0.71417	0.973000	0.42090	0.921000	0.55340	4.940000	0.63533	2.752000	0.94435	0.655000	0.94253	GTA		0.453	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			15	29	0	0	0	1	0	15	29				
TSNAXIP1	55815	broad.mit.edu	37	16	67857567	67857567	+	Missense_Mutation	SNP	C	C	G	rs188824864		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:67857567C>G	ENST00000388833.3	+	5	641	c.264C>G	c.(262-264)ttC>ttG	p.F88L	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.F142L|TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000562321.1_Intron	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TAGAGGACTTCAAAACGTACA	0.498																																						ENST00000388833.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22						c.(262-264)ttC>ttG		translin-associated factor X interacting protein 1							80.0	84.0	83.0					16																	67857567		1936	4158	6094	SO:0001583	missense	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67857567C>G	AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.264C>G	16.37:g.67857567C>G	ENSP00000373485:p.Phe88Leu					TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.F142L|TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000562321.1_Intron	p.F88L	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	5	641	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	88						Missense_Mutation	SNP	ENST00000388833.3	37	c.264C>G	CCDS10846.2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344651	0.82022	.	.	ENSG00000102904	ENST00000388833	.	.	.	5.89	3.9	0.45041	.	0.000000	0.64402	D	0.000001	T	0.68915	0.3053	L	0.58810	1.83	0.41107	D	0.985717	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.994	T	0.69491	-0.5131	9	0.87932	D	0	-18.7648	8.4848	0.33065	0.0:0.7518:0.0:0.2482	.	142;88	B4DXD0;Q2TAA8	.;TXIP1_HUMAN	L	88	.	ENSP00000373485:F88L	F	+	3	2	TSNAXIP1	66415068	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.322000	0.19576	0.779000	0.33543	0.655000	0.94253	TTC		0.498	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268876.2	NM_018430		13	26	0	0	0	1	0	13	26				
DDX27	55661	broad.mit.edu	37	20	47852933	47852933	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr20:47852933C>T	ENST00000371764.4	+	14	1675	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C	ZNFX1_ENST00000469991.1_5'Flank|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	556	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCGAACAGCACGTGCTGGCAG	0.537																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1666-1668)Cgt>Tgt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							93.0	96.0	95.0					20																	47852933		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47852933C>T	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1666C>T	20.37:g.47852933C>T	ENSP00000360828:p.Arg556Cys					DDX27_ENST00000484427.1_3'UTR	p.R556C	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	1675	+			556			Helicase C-terminal.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.1666C>T	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683719	0.47991	.	.	ENSG00000124228	ENST00000371764	D	0.94793	-3.52	6.17	5.21	0.72293	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99376	1.0921	10	0.87932	D	0	-8.7508	14.518	0.67833	0.1477:0.8523:0.0:0.0	.	556	Q96GQ7	DDX27_HUMAN	C	556	ENSP00000360828:R556C	ENSP00000360828:R556C	R	+	1	0	DDX27	47286340	0.993000	0.37304	0.410000	0.26471	0.041000	0.13682	3.184000	0.50926	1.582000	0.49881	0.655000	0.94253	CGT		0.537	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			18	85	0	0	0	1	0	18	85				
IKZF4	64375	broad.mit.edu	37	12	56428753	56428753	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:56428753C>T	ENST00000262032.5	+	12	1763	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Missense_Mutation_p.R421W|IKZF4_ENST00000547167.1_Missense_Mutation_p.R466W|IKZF4_ENST00000431367.2_Missense_Mutation_p.R364W			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	466					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACGAAGATCGGGTTGCGGG	0.667																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1396-1398)Cgg>Tgg		IKAROS family zinc finger 4 (Eos)							13.0	15.0	14.0					12																	56428753		1857	4084	5941	SO:0001583	missense	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56428753C>T	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1396C>T	12.37:g.56428753C>T	ENSP00000262032:p.Arg466Trp					IKZF4_ENST00000431367.2_Missense_Mutation_p.R364W|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Missense_Mutation_p.R466W|IKZF4_ENST00000547791.1_Missense_Mutation_p.R421W	p.R466W			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	1763	+			466					Q96JP3	Missense_Mutation	SNP	ENST00000262032.5	37	c.1396C>T	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271131	0.59649	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.09073	3.03;3.03;3.03;3.02	4.29	4.29	0.51040	.	0.000000	0.43579	D	0.000548	T	0.21962	0.0529	M	0.69358	2.11	0.49051	D	0.999747	D;D;D;D	0.89917	0.999;0.996;1.0;0.997	D;P;D;P	0.66084	0.941;0.825;0.941;0.793	T	0.00162	-1.1971	10	0.49607	T	0.09	-1.9156	9.8766	0.41207	0.3193:0.6807:0.0:0.0	.	364;421;425;466	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	W	466;364;466;421	ENSP00000262032:R466W;ENSP00000412101:R364W;ENSP00000448419:R466W;ENSP00000450020:R421W	ENSP00000262032:R466W	R	+	1	2	IKZF4	54715020	0.732000	0.28121	1.000000	0.80357	0.906000	0.53458	1.217000	0.32455	2.379000	0.81126	0.313000	0.20887	CGG		0.667	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		14	19	0	0	0	1	0	14	19				
SLA	6503	broad.mit.edu	37	8	134072440	134072440	+	5'UTR	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:134072440C>T	ENST00000338087.5	-	0	785				SLA_ENST00000518565.1_5'UTR|TG_ENST00000542445.1_Intron|SLA_ENST00000395352.3_Nonsense_Mutation_p.W6*|SLA_ENST00000427060.2_Nonsense_Mutation_p.W29*|SLA_ENST00000517648.1_Nonsense_Mutation_p.W6*|SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor						positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TGGTGATGCCCAGAGCCTGTG	0.567																																						ENST00000395352.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(16-18)tGg>tAg		Src-like-adaptor							75.0	77.0	76.0					8																	134072440		2203	4300	6503	SO:0001623	5_prime_UTR_variant	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134072440C>T		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.-35G>A	8.37:g.134072440C>T						SLA_ENST00000524345.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000338087.5_5'UTR|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Nonsense_Mutation_p.W6*|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000427060.2_Nonsense_Mutation_p.W29*	p.W6*	NM_001045557.2	NP_001039022.2	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		2	365	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	0					B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Nonsense_Mutation	SNP	ENST00000338087.5	37	c.17G>A	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	8.944	0.966444	0.18659	.	.	ENSG00000155926	ENST00000427060;ENST00000395352;ENST00000517648	.	.	.	5.29	-4.03	0.04021	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	6.774	0.23609	0.0:0.2817:0.3499:0.3683	.	.	.	.	X	29;6;6	.	ENSP00000378759:W6X	W	-	2	0	SLA	134141622	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.513000	0.02256	-0.793000	0.04475	0.462000	0.41574	TGG		0.567	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			14	66	0	0	0	1	0	14	66				
ATP1A3	478	broad.mit.edu	37	19	42473056	42473056	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:42473056C>G	ENST00000302102.5	-	20	2850	c.2700G>C	c.(2698-2700)caG>caC	p.Q900H	ATP1A3_ENST00000543770.1_Missense_Mutation_p.Q911H|ATP1A3_ENST00000602133.1_Missense_Mutation_p.Q870H|ATP1A3_ENST00000545399.1_Missense_Mutation_p.Q913H	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	900					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCACCTTCCTCTGCTCGTATG	0.622																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(2737-2739)caG>caC		ATPase, Na+/K+ transporting, alpha 3 polypeptide							124.0	86.0	99.0					19																	42473056		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42473056C>G		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2700G>C	19.37:g.42473056C>G	ENSP00000302397:p.Gln900His					ATP1A3_ENST00000543770.1_Missense_Mutation_p.Q911H|ATP1A3_ENST00000602133.1_Missense_Mutation_p.Q870H|ATP1A3_ENST00000302102.5_Missense_Mutation_p.Q900H	p.Q913H	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			20	2892	-			900					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.2739G>C	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320042	0.41096	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88	3.45	2.41	0.29592	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.066043	0.64402	D	0.000008	D	0.95726	0.8610	M	0.90977	3.165	0.58432	D	0.999991	B;B;B;B	0.21309	0.016;0.005;0.054;0.007	B;B;B;B	0.33196	0.053;0.043;0.159;0.072	D	0.95328	0.8427	10	0.72032	D	0.01	.	8.476	0.33014	0.0:0.8767:0.0:0.1233	.	913;911;900;900	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	H	900;900;913;870;644;911	ENSP00000302397:Q900H;ENSP00000411503:Q900H;ENSP00000444688:Q913H;ENSP00000437577:Q911H	ENSP00000302397:Q900H	Q	-	3	2	ATP1A3	47164896	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.590000	0.46154	1.960000	0.56953	0.462000	0.41574	CAG		0.622	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		6	64	0	0	0	1	0	6	64				
CETN1	1068	broad.mit.edu	37	18	580529	580529	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr18:580529G>A	ENST00000327228.3	+	1	163	c.121G>A	c.(121-123)Gac>Aac	p.D41N		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	41	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TGACCTCTTCGACGTGGACGG	0.567																																						ENST00000327228.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						c.(121-123)Gac>Aac		centrin, EF-hand protein, 1							72.0	55.0	61.0					18																	580529		2203	4300	6503	SO:0001583	missense	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580529G>A	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.121G>A	18.37:g.580529G>A	ENSP00000319052:p.Asp41Asn						p.D41N	NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN			1	163	+			41			EF-hand 1.		B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	c.121G>A	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979461	0.74360	.	.	ENSG00000177143	ENST00000327228	D	0.95821	-3.82	5.2	5.2	0.72013	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	H	0.95470	3.675	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	D	0.99013	1.0815	10	0.87932	D	0	.	16.6478	0.85181	0.0:0.0:1.0:0.0	.	41	Q12798	CETN1_HUMAN	N	41	ENSP00000319052:D41N	ENSP00000319052:D41N	D	+	1	0	CETN1	570529	1.000000	0.71417	0.988000	0.46212	0.004000	0.04260	9.600000	0.98282	2.882000	0.98803	0.655000	0.94253	GAC		0.567	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		6	26	0	0	0	1	0	6	26				
TTN	7273	broad.mit.edu	37	2	179611294	179611294	+	Intron	SNP	C	C	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:179611294C>G	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.R5278T			Q8WZ42	TITIN_HUMAN	titin						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)			TGCCACCACTCTTTCTTCCTG	0.438																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15832-15834)aGa>aCa		titin							134.0	128.0	130.0					2																	179611294		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611294C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4646G>C	2.37:g.179611294C>G						TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron	p.R5278T	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16055	-			8797			Ig-like 33.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15833G>C		.	.	.	.	.	.	.	.	.	.	C	4.418	0.077350	0.08485	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59083	0.29	5.77	3.96	0.45880	.	.	.	.	.	T	0.71796	0.3382	M	0.63843	1.955	0.28117	N	0.930755	P	0.43542	0.81	D	0.66602	0.945	T	0.64664	-0.6354	9	0.13108	T	0.6	.	16.6335	0.85040	0.0:0.7553:0.2447:0.0	.	5278	Q8WZ42-6	.	T	5278;559	ENSP00000354117:R5278T	ENSP00000304714:R559T	R	-	2	0	TTN	179319539	0.929000	0.31497	0.004000	0.12327	0.359000	0.29487	2.718000	0.47236	0.769000	0.33313	0.655000	0.94253	AGA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	52	0	0	0	1	0	21	52				
ATP12A	479	broad.mit.edu	37	13	25283862	25283862	+	Missense_Mutation	SNP	G	G	A	rs368160174		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr13:25283862G>A	ENST00000381946.3	+	19	2826	c.2659G>A	c.(2659-2661)Gtc>Atc	p.V887I	ATP12A_ENST00000218548.6_Missense_Mutation_p.V893I			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	887					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GTATTTCACCGTCTATGCACA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		18478	0.001		0.0	False		,,,				2504	0.0				Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(2677-2679)Gtc>Atc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)	G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	157.0	156.0	156.0		2677,2659	6.0	0.9	13		156	1,8599		0,1,4299	no	missense,missense	ATP12A	NM_001185085.1,NM_001676.5	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	893/1046,887/1040	25283862	1,13005	2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25283862G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2659G>A	13.37:g.25283862G>A	ENSP00000371372:p.Val887Ile					ATP12A_ENST00000381946.3_Missense_Mutation_p.V887I	p.V893I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	19	3010	+		Lung SC(185;0.0225)|Breast(139;0.077)	887					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2677G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	2.853	-0.237804	0.05944	0.0	1.16E-4	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.89050	-2.46;-2.46	6.03	6.03	0.97812	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.274626	0.31177	N	0.008102	T	0.80439	0.4623	N	0.25094	0.71	0.47905	D	0.999545	B;B	0.21381	0.027;0.055	B;B	0.21917	0.021;0.037	T	0.73655	-0.3914	10	0.02654	T	1	.	16.0667	0.80887	0.0:0.0:1.0:0.0	.	893;887	P54707-2;P54707	.;AT12A_HUMAN	I	893;887	ENSP00000218548:V893I;ENSP00000371372:V887I	ENSP00000218548:V893I	V	+	1	0	ATP12A	24181862	1.000000	0.71417	0.933000	0.37362	0.214000	0.24535	4.289000	0.59013	2.854000	0.98071	0.655000	0.94253	GTC		0.502	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		57	139	0	0	0	1	0	57	139				
OR9A2	135924	broad.mit.edu	37	7	142723727	142723727	+	Missense_Mutation	SNP	G	G	A	rs143573729	byFrequency	TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:142723727G>A	ENST00000350513.2	-	1	555	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165S(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTTGATTTGCGGAAGGTAAAC	0.398													G|||	6	0.00119808	0.0008	0.0043	5008	,	,		21830	0.0		0.001	False		,,,				2504	0.001					ENST00000350513.2																			1	Substitution - Missense(1)	p.R165S(1)	lung(1)	central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25						c.(493-495)Cgc>Tgc		olfactory receptor, family 9, subfamily A, member 2		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	78.0	79.0		493	3.4	1.0	7	dbSNP_134	79	20,8580	14.6+/-50.1	0,20,4280	yes	missense	OR9A2	NM_001001658.1	180	0,21,6482	AA,AG,GG		0.2326,0.0227,0.1615	benign	165/311	142723727	21,12985	2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723727G>A		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.493C>T	7.37:g.142723727G>A	ENSP00000316518:p.Arg165Cys						p.R165C	NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN			1	555	-	Melanoma(164;0.059)		165					B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.493C>T	CCDS34767.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	0.004	-2.317376	0.00235	2.27E-4	0.002326	ENSG00000179468	ENST00000350513	T	0.00021	9.03	4.53	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	N	0.000513	T	0.00039	0.0001	N	0.00016	-2.855	0.29391	N	0.86264	B	0.02656	0.0	B	0.04013	0.001	T	0.27536	-1.0071	10	0.02654	T	1	-15.2416	8.3405	0.32241	0.9037:0.0:0.0963:0.0	.	165	Q8NGT5	OR9A2_HUMAN	C	165	ENSP00000316518:R165C	ENSP00000316518:R165C	R	-	1	0	OR9A2	142433849	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	4.471000	0.60182	0.870000	0.35726	-0.340000	0.08031	CGC		0.398	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			4	91	0	0	0	1	0	4	91				
ZMYM6	9204	broad.mit.edu	37	1	35485180	35485180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:35485180G>A	ENST00000357182.4	-	4	429	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000317538.5_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000373333.1_Nonsense_Mutation_p.Q68*	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	68					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAGAAAGCTGAAAGCCTGGG	0.368																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(202-204)Cag>Tag		zinc finger, MYM-type 6							49.0	48.0	48.0					1																	35485180		2203	4300	6503	SO:0001587	stop_gained	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35485180G>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.202C>T	1.37:g.35485180G>A	ENSP00000349708:p.Gln68*					ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373333.1_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000317538.5_Nonsense_Mutation_p.Q68*	p.Q68*	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			4	429	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	68					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Nonsense_Mutation	SNP	ENST00000357182.4	37	c.202C>T	CCDS387.2	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809586	0.70797	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531;ENST00000317538;ENST00000373333	.	.	.	5.15	4.24	0.50183	.	0.182174	0.38548	N	0.001642	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.2508	14.0505	0.64732	0.0726:0.0:0.9274:0.0	.	.	.	.	X	68	.	ENSP00000326695:Q68X	Q	-	1	0	ZMYM6	35257767	1.000000	0.71417	0.929000	0.37066	0.371000	0.29859	5.459000	0.66685	1.542000	0.49330	0.585000	0.79938	CAG		0.368	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		16	19	0	0	0	1	0	16	19				
MPND	84954	broad.mit.edu	37	19	4357271	4357271	+	Missense_Mutation	SNP	C	C	T	rs569249456		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:4357271C>T	ENST00000262966.8	+	9	1085	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	MPND_ENST00000359935.4_Missense_Mutation_p.R290W|MPND_ENST00000599840.1_Missense_Mutation_p.R340W|AC007292.3_ENST00000593524.1_RNA	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	340	MPN.						peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTTCCTGCGGGGCCTGTC	0.652													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16535	0.0		0.0	False		,,,				2504	0.0					ENST00000599840.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(1018-1020)Cgg>Tgg		MPN domain containing							25.0	26.0	26.0					19																	4357271		2014	4174	6188	SO:0001583	missense	84954						peptidase activity	g.chr19:4357271C>T		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.1018C>T	19.37:g.4357271C>T	ENSP00000262966:p.Arg340Trp					MPND_ENST00000359935.4_Missense_Mutation_p.R290W|MPND_ENST00000262966.8_Missense_Mutation_p.R340W|AC007292.3_ENST00000593524.1_RNA	p.R340W			Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1053	+			340			MPN.		Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	ENST00000262966.8	37	c.1018C>T	CCDS42470.1	.	.	.	.	.	.	.	.	.	.	c	18.50	3.638525	0.67130	.	.	ENSG00000008382	ENST00000262966;ENST00000359935	T;T	0.59772	0.24;0.24	3.67	2.62	0.31277	.	0.000000	0.85682	U	0.000000	T	0.71787	0.3381	M	0.83118	2.625	0.51012	D	0.999905	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.71122	-0.4684	10	0.87932	D	0	-26.7275	4.6255	0.12476	0.2151:0.667:0.0:0.1178	.	290;340;340	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	W	340;290	ENSP00000262966:R340W;ENSP00000353015:R290W	ENSP00000262966:R340W	R	+	1	2	MPND	4308271	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	4.880000	0.63107	0.878000	0.35920	0.462000	0.41574	CGG		0.652	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		6	23	0	0	0	1	0	6	23				
RFX2	5990	broad.mit.edu	37	19	6001995	6001995	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr19:6001995C>T	ENST00000303657.5	-	15	1839	c.1690G>A	c.(1690-1692)Gtg>Atg	p.V564M	RFX2_ENST00000592546.1_Missense_Mutation_p.V539M|RFX2_ENST00000359161.3_Missense_Mutation_p.V564M|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGCCGCTGCACCACACTCTCC	0.657																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1690-1692)Gtg>Atg		regulatory factor X, 2 (influences HLA class II expression)							50.0	46.0	48.0					19																	6001995		2201	4300	6501	SO:0001583	missense	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6001995C>T		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1690G>A	19.37:g.6001995C>T	ENSP00000306335:p.Val564Met					RFX2_ENST00000592546.1_Missense_Mutation_p.V539M|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.V564M	p.V564M	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			15	1839	-			564					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	c.1690G>A	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917020	0.73098	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.10860	2.83	4.27	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	M	0.89478	3.035	0.80722	D	1	D;D	0.65815	0.995;0.991	D;P	0.66497	0.944;0.881	T	0.31833	-0.9929	10	0.87932	D	0	-27.6656	11.4645	0.50230	0.0:0.909:0.0:0.091	.	539;564	P48378-2;P48378	.;RFX2_HUMAN	M	564;539;351	ENSP00000306335:V564M	ENSP00000306335:V564M	V	-	1	0	RFX2	5952995	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.565000	0.82337	0.877000	0.35895	0.655000	0.94253	GTG		0.657	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		17	36	0	0	0	1	0	17	36				
TRAPPC9	83696	broad.mit.edu	37	8	140922441	140922441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:140922441C>A	ENST00000438773.2	-	20	3047	c.2914G>T	c.(2914-2916)Gaa>Taa	p.E972*	TRAPPC9_ENST00000522504.1_5'Flank|RP11-284H18.1_ENST00000518354.1_RNA|TRAPPC9_ENST00000389328.4_Nonsense_Mutation_p.E1070*|TRAPPC9_ENST00000389327.3_Nonsense_Mutation_p.E963*	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	972					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCTCGGGCTTCCCGCCGCTCT	0.592																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(3208-3210)Gaa>Taa		trafficking protein particle complex 9							57.0	64.0	61.0					8																	140922441		2203	4300	6503	SO:0001587	stop_gained	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:140922441C>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2914G>T	8.37:g.140922441C>A	ENSP00000405060:p.Glu972*					TRAPPC9_ENST00000389327.3_Nonsense_Mutation_p.E963*|TRAPPC9_ENST00000438773.2_Nonsense_Mutation_p.E972*	p.E1070*	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			20	3222	-			972					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Nonsense_Mutation	SNP	ENST00000438773.2	37	c.3208G>T	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.924628|9.924628	0.99297|0.99297	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773|ENST00000520857	.|.	.|.	.|.	5.62|5.62	3.72|3.72	0.42706|0.42706	.|.	0.197188|.	0.45361|.	D|.	0.000375|.	.|T	.|0.50394	.|0.1613	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59716	.|-0.7402	.|3	0.15499|.	T|.	0.54|.	.|.	8.451|8.451	0.32871|0.32871	0.0:0.6205:0.2928:0.0867|0.0:0.6205:0.2928:0.0867	.|.	.|.	.|.	.|.	X|V	1070;963;972|815	.|.	ENSP00000373978:E963X|.	E|G	-|-	1|2	0|0	TRAPPC9|TRAPPC9	140991623|140991623	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.973000|0.973000	0.67179|0.67179	4.799000|4.799000	0.62517|0.62517	1.384000|1.384000	0.46424|0.46424	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.592	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		16	49	1	0	0.00316338	1	0.00322838	16	49				
PLEKHH3	79990	broad.mit.edu	37	17	40823067	40823067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:40823067C>A	ENST00000591022.1	-	9	1753	c.1366G>T	c.(1366-1368)Gag>Tag	p.E456*	PLEKHH3_ENST00000412503.1_Nonsense_Mutation_p.E456*|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Nonsense_Mutation_p.E456*	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	456	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AGGGCTCGCTCCTGGGCCCCT	0.657																																						ENST00000293349.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13						c.(1366-1368)Gag>Tag		pleckstrin homology domain containing, family H (with MyTH4 domain) member 3							32.0	40.0	37.0					17																	40823067		2147	4250	6397	SO:0001587	stop_gained	79990				signal transduction	cytoskeleton		g.chr17:40823067C>A	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1366G>T	17.37:g.40823067C>A	ENSP00000468678:p.Glu456*					PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Nonsense_Mutation_p.E456*|PLEKHH3_ENST00000412503.1_Nonsense_Mutation_p.E456*	p.E456*			Q7Z736	PKHH3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	9	1796	-		Breast(137;0.00116)	456			FERM.		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Nonsense_Mutation	SNP	ENST00000591022.1	37	c.1366G>T	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	43	9.914270	0.99294	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	.	.	.	5.16	5.16	0.70880	.	0.000000	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-15.4854	18.2783	0.90091	0.0:1.0:0.0:0.0	.	.	.	.	X	118;456;456	.	ENSP00000293349:E456X	E	-	1	0	PLEKHH3	38076593	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.950000	0.63603	2.420000	0.82092	0.561000	0.74099	GAG		0.657	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927		8	84	1	0	0.0381472	1	0.038405	8	84				
OR5J2	282775	broad.mit.edu	37	11	55944325	55944325	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:55944325G>A	ENST00000312298.1	+	1	232	c.232G>A	c.(232-234)Gca>Aca	p.A78T		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATCTGCAATTGCACCCAAAAT	0.438																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(232-234)Gca>Aca		olfactory receptor, family 5, subfamily J, member 2							184.0	153.0	164.0					11																	55944325		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944325G>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.232G>A	11.37:g.55944325G>A	ENSP00000310788:p.Ala78Thr						p.A78T	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	232	+	Esophageal squamous(21;0.00693)		78					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.232G>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	0.194	-1.050948	0.01981	.	.	ENSG00000174957	ENST00000312298	T	0.01197	5.19	4.57	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.115890	0.37906	N	0.001888	T	0.01092	0.0036	N	0.16602	0.42	0.09310	N	1	D	0.54601	0.967	P	0.51193	0.662	T	0.34800	-0.9814	10	0.02654	T	1	.	7.7709	0.29008	0.2636:0.0:0.7364:0.0	.	78	Q8NH18	OR5J2_HUMAN	T	78	ENSP00000310788:A78T	ENSP00000310788:A78T	A	+	1	0	OR5J2	55700901	0.000000	0.05858	0.820000	0.32676	0.507000	0.33981	-1.416000	0.02467	1.081000	0.41110	0.584000	0.79450	GCA		0.438	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		15	176	0	0	0	1	0	15	176				
AHNAK2	113146	broad.mit.edu	37	14	105419974	105419974	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:105419974G>T	ENST00000333244.5	-	7	1933	c.1814C>A	c.(1813-1815)gCc>gAc	p.A605D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	605						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCTTCTGTGGCTTTTTCTCT	0.493																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1813-1815)gCc>gAc		AHNAK nucleoprotein 2							449.0	455.0	453.0					14																	105419974		2121	4241	6362	SO:0001583	missense	113146					nucleus		g.chr14:105419974G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1814C>A	14.37:g.105419974G>T	ENSP00000353114:p.Ala605Asp					AHNAK2_ENST00000557457.1_Intron	p.A605D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1933	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	605					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.1814C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	9.550	1.115563	0.20795	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	4.28	-6.46	0.01908	.	.	.	.	.	T	0.00524	0.0017	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47522	-0.9111	9	0.11794	T	0.64	.	8.4108	0.32642	0.0:0.2053:0.5037:0.291	.	605	Q8IVF2	AHNK2_HUMAN	D	605	ENSP00000353114:A605D	ENSP00000353114:A605D	A	-	2	0	AHNAK2	104491019	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.019000	0.00643	-1.161000	0.02800	-0.397000	0.06425	GCC		0.493	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		32	357	1	0	4.2108e-06	1	4.54644e-06	32	357				
SOWAHB	345079	broad.mit.edu	37	4	77817339	77817339	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr4:77817339T>A	ENST00000334306.2	-	1	1663	c.1664A>T	c.(1663-1665)aAg>aTg	p.K555M		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	555																	CACAACAGCCTTAACCTCTGC	0.602																																						ENST00000334306.2																			0											c.(1663-1665)aAg>aTg		sosondowah ankyrin repeat domain family member B							43.0	44.0	44.0					4																	77817339		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817339T>A		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1664A>T	4.37:g.77817339T>A	ENSP00000334879:p.Lys555Met						p.K555M	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1663	-			555					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1664A>T	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947070	0.53186	.	.	ENSG00000186212	ENST00000334306	T	0.05996	3.36	5.05	2.54	0.30619	.	1.082970	0.07218	U	0.860404	T	0.11410	0.0278	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	P	0.61397	0.888	T	0.37549	-0.9701	10	0.66056	D	0.02	-6.2745	6.485	0.22083	0.0:0.0777:0.2995:0.6228	.	555	A6NEL2	ANR56_HUMAN	M	555	ENSP00000334879:K555M	ENSP00000334879:K555M	K	-	2	0	ANKRD56	78036363	0.002000	0.14202	0.000000	0.03702	0.227000	0.25037	0.959000	0.29240	0.369000	0.24510	0.533000	0.62120	AAG		0.602	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		11	29	0	0	0	1	0	11	29				
HNRNPA3	220988	broad.mit.edu	37	2	178084017	178084017	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr2:178084017G>A	ENST00000392524.2	+	10	1364	c.1127G>A	c.(1126-1128)aGa>aAa	p.R376K	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R376K|HNRNPA3_ENST00000411529.2_Missense_Mutation_p.R354K			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	376	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TATGGTAGCAGAAGGTTCTAA	0.299																																						ENST00000411529.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						c.(1060-1062)aGa>aAa		heterogeneous nuclear ribonucleoprotein A3							59.0	63.0	61.0					2																	178084017		2202	4299	6501	SO:0001583	missense	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178084017G>A	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.1127G>A	2.37:g.178084017G>A	ENSP00000376309:p.Arg376Lys					HNRNPA3_ENST00000392524.2_Missense_Mutation_p.R376K|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R376K	p.R354K	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN			10	1112	+			376			Gly-rich.		D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	c.1061G>A	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	G	8.399	0.841405	0.16963	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711;ENST00000432457	D;D;D;T	0.85411	-1.82;-1.98;-1.82;0.63	4.58	4.58	0.56647	.	0.000000	0.51477	D	0.000093	D	0.85405	0.5689	M	0.74389	2.26	0.54753	D	0.999983	B;B	0.21905	0.062;0.062	B;B	0.19148	0.024;0.024	D	0.83996	0.0340	10	0.51188	T	0.08	.	17.7701	0.88489	0.0:0.0:1.0:0.0	.	354;376	B4DDB6;P51991	.;ROA3_HUMAN	K	376;354;320;321;376;113	ENSP00000376309:R376K;ENSP00000408487:R354K;ENSP00000416340:R376K;ENSP00000400688:R113K	ENSP00000376309:R376K	R	+	2	0	HNRNPA3	177792263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.925000	0.75829	2.275000	0.75901	0.580000	0.79431	AGA		0.299	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		9	37	0	0	0	1	0	9	37				
IGHM	3507	broad.mit.edu	37	14	106321851	106321851	+	RNA	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr14:106321851C>T	ENST00000390559.2	-	0	382				AL122127.5_ENST00000582202.1_RNA|AL122127.1_ENST00000581354.1_RNA|hsa-mir-4538_ENST00000581318.1_RNA|hsa-mir-4539_ENST00000579784.1_RNA|AL122127.2_ENST00000581918.1_RNA|AL122127.4_ENST00000581720.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CTTGGACTTGCGGGGGTTGCC	0.657																																						ENST00000390559.2																			0																				29.0	31.0	30.0					14																	106321851		2085	4176	6261			3507							g.chr14:106321851C>T	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106321851C>T														0	382	-								P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.657	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		16	30	0	0	0	1	0	16	30				
ADARB1	104	broad.mit.edu	37	21	46596043	46596043	+	Missense_Mutation	SNP	G	G	A	rs558219105		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr21:46596043G>A	ENST00000360697.3	+	2	442	c.427G>A	c.(427-429)Gtt>Att	p.V143I	ADARB1_ENST00000348831.4_Missense_Mutation_p.V143I|ADARB1_ENST00000539173.1_Missense_Mutation_p.V143I|ADARB1_ENST00000389863.4_Missense_Mutation_p.V143I|ADARB1_ENST00000437626.1_Intron			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	143	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GAGGTCTTTCGTTCAGTTTCC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19672	0.001		0.0	False		,,,				2504	0.0					ENST00000539173.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(427-429)Gtt>Att		adenosine deaminase, RNA-specific, B1							79.0	71.0	74.0					21																	46596043		2203	4300	6503	SO:0001583	missense	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46596043G>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.427G>A	21.37:g.46596043G>A	ENSP00000353920:p.Val143Ile					ADARB1_ENST00000348831.4_Missense_Mutation_p.V143I|ADARB1_ENST00000360697.3_Missense_Mutation_p.V143I|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000389863.4_Missense_Mutation_p.V143I	p.V143I	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN		Colorectal(79;0.115)	4	862	+			143			DRBM 1.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	37	c.427G>A	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819669	0.32145	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.24	5.24	0.73138	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.17704	0.0425	N	0.03967	-0.31	0.80722	D	1	B;B;B;B;B	0.27882	0.059;0.192;0.019;0.018;0.076	B;B;B;B;B	0.34418	0.121;0.088;0.057;0.068;0.182	T	0.16247	-1.0409	10	0.17832	T	0.49	-53.4228	16.6953	0.85334	0.0:0.0:1.0:0.0	.	170;143;143;171;143	P78563-4;P78563;Q4AE77;G5E9B4;P78563-3	.;RED1_HUMAN;.;.;.	I	143	ENSP00000441897:V143I;ENSP00000374513:V143I;ENSP00000015877:V143I;ENSP00000353920:V143I	ENSP00000015877:V143I	V	+	1	0	ADARB1	45420471	1.000000	0.71417	0.157000	0.22605	0.042000	0.13812	9.400000	0.97290	2.632000	0.89209	0.561000	0.74099	GTT		0.542	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		18	16	0	0	0	1	0	18	16				
DLAT	1737	broad.mit.edu	37	11	111915886	111915886	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:111915886A>C	ENST00000280346.6	+	9	1881	c.1222A>C	c.(1222-1224)Aca>Cca	p.T408P	DLAT_ENST00000537636.1_Missense_Mutation_p.T179P|DLAT_ENST00000393051.1_Missense_Mutation_p.T303P	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	408					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-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;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		TGTGCCTCCCACAGGTCCTGG	0.483																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1222-1224)Aca>Cca		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						175.0	175.0	175.0					11																	111915886		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111915886A>C	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1222A>C	11.37:g.111915886A>C	ENSP00000280346:p.Thr408Pro					DLAT_ENST00000393051.1_Missense_Mutation_p.T303P|DLAT_ENST00000537636.1_Missense_Mutation_p.T179P	p.T408P	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	9	1881	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-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)	408					Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.1222A>C	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	A	1.045	-0.677654	0.03378	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.23754	2.33;2.47;2.34;1.89	5.38	1.31	0.21738	.	1.160130	0.06500	N	0.736210	T	0.08802	0.0218	N	0.01202	-0.96	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33523	-0.9865	10	0.20519	T	0.43	-0.0031	5.9464	0.19221	0.1295:0.4375:0.3602:0.0729	.	408;303;408	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	P	408;303;240;179	ENSP00000280346:T408P;ENSP00000376771:T303P;ENSP00000433432:T240P;ENSP00000442427:T179P	ENSP00000280346:T408P	T	+	1	0	DLAT	111421096	0.000000	0.05858	0.020000	0.16555	0.047000	0.14425	-0.073000	0.11468	0.234000	0.21139	-0.302000	0.09304	ACA		0.483	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		54	77	0	0	0	1	0	54	77				
DCLK1	9201	broad.mit.edu	37	13	36428695	36428695	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr13:36428695G>A	ENST00000360631.3	-	6	1187	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000379892.4_Missense_Mutation_p.R326C|DCLK1_ENST00000379893.1_Missense_Mutation_p.R19C|DCLK1_ENST00000255448.4_Missense_Mutation_p.R326C			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	326	Pro/Ser-rich.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.R326C(4)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTGCCTGAGCGCGGAGTAGAG	0.473																																						ENST00000255448.4																			4	Substitution - Missense(4)	p.R326C(4)	haematopoietic_and_lymphoid_tissue(4)	breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(976-978)Cgc>Tgc		doublecortin-like kinase 1							115.0	105.0	108.0					13																	36428695		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36428695G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.976C>T	13.37:g.36428695G>A	ENSP00000353846:p.Arg326Cys					DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000360631.3_Missense_Mutation_p.R326C|DCLK1_ENST00000379893.1_Missense_Mutation_p.R19C|DCLK1_ENST00000379892.4_Missense_Mutation_p.R326C	p.R326C	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	6	1187	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	326			Pro/Ser-rich.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.976C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.329526	0.95733	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451;ENST00000379892	T;T;T;T	0.69040	-0.37;-0.37;-0.37;1.83	5.67	5.67	0.87782	.	0.052262	0.85682	D	0.000000	T	0.78654	0.4317	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	P;D;P	0.64042	0.888;0.921;0.888	T	0.78971	-0.1993	10	0.62326	D	0.03	.	19.7728	0.96373	0.0:0.0:1.0:0.0	.	19;326;19	O15075-4;O15075-2;O15075-3	.;.;.	C	18;326;326;19;326;326	ENSP00000255448:R326C;ENSP00000353846:R326C;ENSP00000369223:R19C;ENSP00000369222:R326C	ENSP00000255448:R326C	R	-	1	0	DCLK1	35326695	1.000000	0.71417	0.941000	0.38009	0.997000	0.91878	6.830000	0.75319	2.687000	0.91594	0.655000	0.94253	CGC		0.473	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		14	29	0	0	0	1	0	14	29				
B4GALNT3	283358	broad.mit.edu	37	12	645455	645455	+	Silent	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:645455C>T	ENST00000266383.5	+	3	358	c.345C>T	c.(343-345)ctC>ctT	p.L115L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	115					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TCCCCTGGCTCTCAGAGGTGA	0.453																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(343-345)ctC>ctT		beta-1,4-N-acetyl-galactosaminyl transferase 3							162.0	142.0	149.0					12																	645455		2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:645455C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.345C>T	12.37:g.645455C>T							p.L115L	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		3	358	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		115					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.345C>T	CCDS8504.1																																																																																				0.453	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		33	43	0	0	0	1	0	33	43				
NAGS	162417	broad.mit.edu	37	17	42084858	42084858	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:42084858G>A	ENST00000293404.3	+	5	1382	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	422	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTACGTCTCCGAGGGGTAAGC	0.697											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293404.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1264-1266)Gag>Aag		N-acetylglutamate synthase	L-Glutamic Acid(DB00142)						31.0	36.0	34.0					17																	42084858		2192	4281	6473	SO:0001583	missense	162417				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	g.chr17:42084858G>A	AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1264G>A	17.37:g.42084858G>A	ENSP00000293404:p.Glu422Lys		OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906		p.E422K	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	1382	+		Breast(137;0.00536)|Prostate(33;0.0724)	422			N-acetyltransferase.		B2RAZ9|Q8IWR4	Missense_Mutation	SNP	ENST00000293404.3	37	c.1264G>A	CCDS11473.1	.	.	.	.	.	.	.	.	.	.	G	36	5.728710	0.96856	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	D	0.95137	-3.62	5.56	5.56	0.83823	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);Domain of unknown function DUF619 (1);	0.000000	0.85682	D	0.000000	D	0.96886	0.8983	M	0.74881	2.28	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96062	0.9039	10	0.36615	T	0.2	-34.2577	17.0151	0.86416	0.0:0.0:1.0:0.0	.	256;422	Q2NKP2;Q8N159	.;NAGS_HUMAN	K	256;422	ENSP00000293404:E422K	ENSP00000293404:E422K	E	+	1	0	NAGS	39440384	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.366000	0.79548	2.623000	0.88846	0.561000	0.74099	GAG		0.697	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006		9	40	0	0	0	1	0	9	40				
IRF6	3664	broad.mit.edu	37	1	209968692	209968692	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:209968692C>T	ENST00000367021.3	-	5	623	c.451G>A	c.(451-453)Gat>Aat	p.D151N	IRF6_ENST00000542854.1_Missense_Mutation_p.D56N	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	151					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGCGACTGATCCAGCTCATCT	0.512										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(451-453)Gat>Aat		interferon regulatory factor 6							348.0	252.0	284.0					1																	209968692		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209968692C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.451G>A	1.37:g.209968692C>T	ENSP00000355988:p.Asp151Asn	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Missense_Mutation_p.D56N	p.D151N	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	5	623	-			151					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.451G>A	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.531912	0.45073	.	.	ENSG00000117595	ENST00000367021;ENST00000542854;ENST00000456314	D;D;D	0.97791	-4.44;-3.91;-4.54	5.4	5.4	0.78164	.	0.325652	0.37393	N	0.002104	D	0.89577	0.6755	N	0.02539	-0.55	0.37317	D	0.909402	B	0.02656	0.0	B	0.01281	0.0	D	0.85861	0.1410	9	.	.	.	.	7.0502	0.25069	0.0:0.79:0.0:0.21	.	151	O14896	IRF6_HUMAN	N	151;56;151	ENSP00000355988:D151N;ENSP00000440532:D56N;ENSP00000403855:D151N	.	D	-	1	0	IRF6	208035315	0.985000	0.35326	0.802000	0.32245	0.979000	0.70002	2.822000	0.48073	2.531000	0.85337	0.655000	0.94253	GAT		0.512	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		27	85	0	0	0	1	0	27	85				
CTAG2	30848	broad.mit.edu	37	X	153880469	153880469	+	3'UTR	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chrX:153880469C>T	ENST00000247306.4	-	0	769				CTAG2_ENST00000369585.3_Silent_p.L159L	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2							centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGATCCACATCAACAGGGAAA	0.592																																						ENST00000369585.3																			0				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(475-477)ttG>ttA		cancer/testis antigen 2							45.0	42.0	43.0					X																	153880469		2203	4296	6499	SO:0001624	3_prime_UTR_variant	30848					centrosome		g.chrX:153880469C>T	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.*73G>A	X.37:g.153880469C>T						CTAG2_ENST00000247306.4_3'UTR	p.L159L	NM_172377.3	NP_758965.1	O75638	CTAG2_HUMAN			3	529	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		0					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.477G>A	CCDS14759.1																																																																																				0.592	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		9	30	0	0	0	1	0	9	30				
FMNL1	752	broad.mit.edu	37	17	43320687	43320687	+	Splice_Site	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:43320687C>T	ENST00000331495.3	+	17	2549	c.2213C>T	c.(2212-2214)gCg>gTg	p.A738V	FMNL1_ENST00000587489.1_Splice_Site_p.A316V|FMNL1_ENST00000328118.3_Splice_Site_p.A738V|CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	738	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCCATTGAGGCGTGAGTGTCC	0.597																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.e17+1		formin-like 1							34.0	27.0	29.0					17																	43320687		2200	4295	6495	SO:0001630	splice_region_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43320687C>T	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2213+1C>T	17.37:g.43320687C>T						FMNL1_ENST00000328118.3_Splice_Site_p.A738_splice|FMNL1_ENST00000587489.1_Splice_Site_p.A316_splice	p.A738_splice	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			17	2549	+			738			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Splice_Site	SNP	ENST00000331495.3	37	c.2213_splice	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	c	16.63	3.177643	0.57692	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.18338	2.22;2.22	4.34	0.0453	0.14229	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.469421	0.22124	U	0.064289	T	0.08088	0.0202	L	0.27053	0.805	0.80722	D	1	P	0.39520	0.676	B	0.34824	0.19	T	0.36138	-0.9760	10	0.27785	T	0.31	.	4.1423	0.10200	0.1515:0.4999:0.0:0.3486	.	738	O95466	FMNL_HUMAN	V	738;738;393	ENSP00000327442:A738V;ENSP00000329219:A738V	ENSP00000327442:A738V	A	+	2	0	FMNL1	40676470	0.923000	0.31300	0.997000	0.53966	0.882000	0.50991	0.091000	0.15046	-0.025000	0.13918	0.450000	0.29827	GCG		0.597	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	Missense_Mutation	21	35	0	0	0	1	0	21	35				
TULP4	56995	broad.mit.edu	37	6	158924160	158924160	+	Silent	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr6:158924160G>A	ENST00000367097.3	+	13	4822	c.3465G>A	c.(3463-3465)ctG>ctA	p.L1155L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1155					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTCTGATGCTGAGTCAGGGCC	0.582																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(3463-3465)ctG>ctA		tubby like protein 4							91.0	85.0	87.0					6																	158924160		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158924160G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3465G>A	6.37:g.158924160G>A						TULP4_ENST00000367094.2_Intron	p.L1155L	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4822	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	1155					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.3465G>A	CCDS34561.1																																																																																				0.582	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		27	59	0	0	0	1	0	27	59				
STPG1	90529	broad.mit.edu	37	1	24700294	24700294	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr1:24700294C>A	ENST00000374409.1	-	6	723	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	STPG1_ENST00000440416.1_Missense_Mutation_p.V110F|STPG1_ENST00000003583.8_Missense_Mutation_p.V110F|STPG1_ENST00000337248.4_Missense_Mutation_p.V157F|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	157					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAGCAAGAGACAGAGGCCTAG	0.458																																						ENST00000374409.1																			0											c.(469-471)Gtc>Ttc		sperm-tail PG-rich repeat containing 1							134.0	141.0	139.0					1																	24700294		2203	4300	6503	SO:0001583	missense	90529							g.chr1:24700294C>A	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.469G>T	1.37:g.24700294C>A	ENSP00000363530:p.Val157Phe					STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Missense_Mutation_p.V110F|STPG1_ENST00000003583.8_Missense_Mutation_p.V110F|STPG1_ENST00000337248.4_Missense_Mutation_p.V157F	p.V157F	NM_001199012.1	NP_001185941.1					6	723	-								Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	c.469G>T	CCDS55581.1	.	.	.	.	.	.	.	.	.	.	C	7.296	0.612024	0.14066	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000438866;ENST00000374404	.	.	.	5.81	-4.7	0.03288	.	1.018420	0.07839	N	0.962609	T	0.25975	0.0633	L	0.40543	1.245	0.09310	N	1	B;B	0.28933	0.063;0.228	B;B	0.27715	0.023;0.082	T	0.28364	-1.0046	9	0.12766	T	0.61	.	6.5853	0.22616	0.0:0.2054:0.2608:0.5338	.	157;110	Q5TH74;Q5TH74-3	CA201_HUMAN;.	F	157;110;110;157;60;61	.	ENSP00000003583:V110F	V	-	1	0	C1orf201	24572881	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-1.259000	0.02861	-0.782000	0.04541	-0.982000	0.02568	GTC		0.458	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		64	158	1	0	4.45325e-31	1	4.91507e-31	64	158				
PLAG1	5324	broad.mit.edu	37	8	57079259	57079259	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr8:57079259T>C	ENST00000316981.3	-	5	1525	c.1046A>G	c.(1045-1047)gAa>gGa	p.E349G	PLAG1_ENST00000429357.2_Missense_Mutation_p.E349G|PLAG1_ENST00000423799.2_Missense_Mutation_p.E267G	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	349	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TAATGGCTGTTCTTTTTCAGG	0.423			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1045-1047)gAa>gGa		pleiomorphic adenoma gene 1							97.0	97.0	97.0					8																	57079259		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079259T>C	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1046A>G	8.37:g.57079259T>C	ENSP00000325546:p.Glu349Gly					PLAG1_ENST00000429357.2_Missense_Mutation_p.E349G|PLAG1_ENST00000423799.2_Missense_Mutation_p.E267G	p.E349G	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	1525	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	349			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.1046A>G	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	T	8.373	0.835706	0.16820	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.12984	2.63;3.31;2.63	5.78	5.78	0.91487	.	0.096356	0.64402	D	0.000001	T	0.14184	0.0343	L	0.43152	1.355	0.80722	D	1	B	0.17268	0.021	B	0.16289	0.015	T	0.06643	-1.0815	10	0.22109	T	0.4	-14.211	16.1026	0.81194	0.0:0.0:0.0:1.0	.	349	Q6DJT9	PLAG1_HUMAN	G	349;267;349	ENSP00000325546:E349G;ENSP00000404067:E267G;ENSP00000416537:E349G	ENSP00000325546:E349G	E	-	2	0	PLAG1	57241813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.198000	0.70561	0.383000	0.25322	GAA		0.423	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		46	81	0	0	0	1	0	46	81				
XIRP1	165904	broad.mit.edu	37	3	39230226	39230226	+	Silent	SNP	C	C	T	rs141262169		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:39230226C>T	ENST00000340369.3	-	2	939	c.711G>A	c.(709-711)acG>acA	p.T237T	XIRP1_ENST00000396251.1_Silent_p.T237T|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	237					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACAGGGGCTCCGTTTGGAAGA	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18794	0.001		0.0	False		,,,				2504	0.0					ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(709-711)acG>acA		xin actin-binding repeat containing 1							98.0	92.0	94.0					3																	39230226		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39230226C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.711G>A	3.37:g.39230226C>T						XIRP1_ENST00000396251.1_Silent_p.T237T|XIRP1_ENST00000421646.1_Intron	p.T237T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	939	-			237					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.711G>A	CCDS2683.1																																																																																				0.617	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		31	41	0	0	0	1	0	31	41				
OR52E4	390081	broad.mit.edu	37	11	5906086	5906086	+	Silent	SNP	G	G	A			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:5906086G>A	ENST00000316987.2	+	1	586	c.564G>A	c.(562-564)ggG>ggA	p.G188G		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTGGCCGGGTTGGCCTGTG	0.443																																						ENST00000316987.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(562-564)ggG>ggA		olfactory receptor, family 52, subfamily E, member 4							209.0	187.0	194.0					11																	5906086		2201	4296	6497	SO:0001819	synonymous_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906086G>A	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.564G>A	11.37:g.5906086G>A							p.G188G	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	586	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	188					Q6IFG0	Silent	SNP	ENST00000316987.2	37	c.564G>A	CCDS31401.1																																																																																				0.443	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		38	112	0	0	0	1	0	38	112				
MUC17	140453	broad.mit.edu	37	7	100682754	100682754	+	Missense_Mutation	SNP	C	C	T	rs71286275		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:100682754C>T	ENST00000306151.4	+	3	8121	c.8057C>T	c.(8056-8058)aCt>aTt	p.T2686I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2686	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACCTCAACTCCTGGTGAA	0.483																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8056-8058)aCt>aTt		mucin 17, cell surface associated							225.0	232.0	230.0					7																	100682754		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682754C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8057C>T	7.37:g.100682754C>T	ENSP00000302716:p.Thr2686Ile						p.T2686I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8121	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2686			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8057C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.459	0.085023	0.08583	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	1.13	-0.963	0.10330	.	.	.	.	.	T	0.01730	0.0055	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45026	-0.9289	9	0.48119	T	0.1	.	5.0376	0.14443	0.0:0.4015:0.0:0.5985	.	2686	Q685J3	MUC17_HUMAN	I	2686	ENSP00000302716:T2686I	ENSP00000302716:T2686I	T	+	2	0	MUC17	100469474	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.518000	0.22847	-0.334000	0.08463	-1.404000	0.01136	ACT		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		23	704	0	0	0	1	0	23	704				
PTDSS2	81490	broad.mit.edu	37	11	460237	460237	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr11:460237A>G	ENST00000308020.5	+	2	409	c.233A>G	c.(232-234)tAt>tGt	p.Y78C	RP13-317D12.3_ENST00000525893.1_RNA	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	78					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		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;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	ACGCTTGGCTATGTGACGCTG	0.552																																						ENST00000308020.5																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9						c.(232-234)tAt>tGt		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						279.0	191.0	221.0					11																	460237		2203	4300	6503	SO:0001583	missense	81490					integral to membrane		g.chr11:460237A>G	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.233A>G	11.37:g.460237A>G	ENSP00000308258:p.Tyr78Cys						p.Y78C	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	2	409	+		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)	78						Missense_Mutation	SNP	ENST00000308020.5	37	c.233A>G	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.674296	0.47781	.	.	ENSG00000174915	ENST00000308020	.	.	.	4.25	3.12	0.35913	.	0.076711	0.53938	N	0.000042	T	0.71341	0.3328	M	0.69523	2.12	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.71550	-0.4559	9	0.87932	D	0	-4.2619	9.3585	0.38182	0.9125:0.0:0.0875:0.0	.	78	Q9BVG9	PTSS2_HUMAN	C	78	.	ENSP00000308258:Y78C	Y	+	2	0	PTDSS2	450237	1.000000	0.71417	0.648000	0.29521	0.118000	0.20060	8.796000	0.91877	0.615000	0.30124	0.533000	0.62120	TAT		0.552	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			5	30	0	0	0	1	0	5	30				
MSL1	339287	broad.mit.edu	37	17	38285640	38285640	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr17:38285640C>T	ENST00000398532.4	+	3	1450	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	MSL1_ENST00000579565.1_Missense_Mutation_p.R116C|MSL1_ENST00000577454.1_Missense_Mutation_p.R379C|MSL1_ENST00000578648.1_Missense_Mutation_p.R379C	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	379					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TGTTTGTAAACGTGAATTGAG	0.473																																						ENST00000398532.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						c.(1135-1137)Cgt>Tgt		male-specific lethal 1 homolog (Drosophila)							64.0	67.0	66.0					17																	38285640		1825	4078	5903	SO:0001583	missense	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38285640C>T		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1135C>T	17.37:g.38285640C>T	ENSP00000381543:p.Arg379Cys					MSL1_ENST00000578648.1_Missense_Mutation_p.R379C|MSL1_ENST00000577454.1_Missense_Mutation_p.R379C|MSL1_ENST00000579565.1_Missense_Mutation_p.R116C	p.R379C			Q68DK7	MSL1_HUMAN			3	1450	+			379					Q0VF46|Q69Z03	Missense_Mutation	SNP	ENST00000398532.4	37	c.1135C>T		.	.	.	.	.	.	.	.	.	.	C	14.05	2.418896	0.42918	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	6.04	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	L	0.38175	1.15	0.58432	D	0.999999	D	0.76494	0.999	P	0.58077	0.832	T	0.68135	-0.5489	9	0.72032	D	0.01	-20.3307	16.2433	0.82426	0.1339:0.8661:0.0:0.0	.	379	Q68DK7	MSL1_HUMAN	C	116;379	.	ENSP00000341409:R116C	R	+	1	0	MSL1	35539166	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.442000	0.66575	1.516000	0.48900	0.563000	0.77884	CGT		0.473	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		13	62	0	0	0	1	0	13	62				
JADE2	23338	broad.mit.edu	37	5	133901872	133901872	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr5:133901872C>T	ENST00000402835.1	+	9	1291	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	PHF15_ENST00000361895.2_Missense_Mutation_p.R346W|PHF15_ENST00000395003.1_Missense_Mutation_p.R346W|PHF15_ENST00000282605.4_Missense_Mutation_p.R346W																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTGGAAATGCGGACTATATT	0.557																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(1036-1038)Cgg>Tgg									129.0	114.0	119.0					5																	133901872		2203	4300	6503	SO:0001583	missense	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133901872C>T																												ENST00000402835.1:c.1036C>T	5.37:g.133901872C>T	ENSP00000384671:p.Arg346Trp					PHF15_ENST00000361895.2_Missense_Mutation_p.R346W|PHF15_ENST00000282605.4_Missense_Mutation_p.R346W|PHF15_ENST00000402835.1_Missense_Mutation_p.R346W	p.R346W	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1215	+			346						Missense_Mutation	SNP	ENST00000402835.1	37	c.1036C>T		.	.	.	.	.	.	.	.	.	.	C	19.55	3.849498	0.71603	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	5.7	1.18	0.20946	Zinc finger, PHD-type (1);	0.111219	0.64402	D	0.000016	T	0.38585	0.1046	M	0.79805	2.47	0.54753	D	0.999981	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.998;0.999	D;D;D;D;D;D	0.76071	0.987;0.981;0.967;0.981;0.944;0.981	T	0.49934	-0.8886	10	0.87932	D	0	.	16.4495	0.83974	0.4684:0.5316:0.0:0.0	.	346;346;346;346;346;362	B4DFY8;Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	.;JADE2_HUMAN;.;.;.;.	W	346;362;346;346;346;346;346	ENSP00000282605:R346W;ENSP00000354425:R346W;ENSP00000384671:R346W;ENSP00000378451:R346W	ENSP00000282605:R346W	R	+	1	2	PHF15	133929771	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.385000	0.34408	0.280000	0.22209	0.591000	0.81541	CGG		0.557	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			27	51	0	0	0	1	0	27	51				
ZFHX3	463	broad.mit.edu	37	16	72831849	72831849	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr16:72831849G>C	ENST00000268489.5	-	9	5404	c.4732C>G	c.(4732-4734)Caa>Gaa	p.Q1578E	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q664E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1578					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGATTCTTGAAGGGCTCTC	0.453																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(4732-4734)Caa>Gaa		zinc finger homeobox 3							60.0	60.0	60.0					16																	72831849		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831849G>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4732C>G	16.37:g.72831849G>C	ENSP00000268489:p.Gln1578Glu					ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q664E	p.Q1578E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	5404	-		Ovarian(137;0.13)	1578					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.4732C>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970371	0.34754	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.75154	-0.91;-0.88	5.78	5.78	0.91487	.	0.000000	0.47852	D	0.000215	T	0.72645	0.3486	L	0.31065	0.9	0.80722	D	1	P	0.42692	0.787	P	0.46320	0.512	T	0.71642	-0.4531	10	0.44086	T	0.13	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	1578	Q15911	ZFHX3_HUMAN	E	1578;664	ENSP00000268489:Q1578E;ENSP00000438926:Q664E	ENSP00000268489:Q1578E	Q	-	1	0	ZFHX3	71389350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	CAA		0.453	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		9	72	0	0	0	1	0	9	72				
IL20RB	53833	broad.mit.edu	37	3	136708300	136708300	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:136708300delG	ENST00000329582.4	+	4	673	c.424delG	c.(424-426)gggfs	p.G142fs	IL20RB_ENST00000309741.5_Frame_Shift_Del_p.G95fs|IL20RB_ENST00000484501.1_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	142					homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						TACCCGACCTGGGATGGAGAT	0.562																																						ENST00000329582.4																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(424-426)ggfs		interleukin 20 receptor beta							84.0	78.0	80.0					3																	136708300		2203	4300	6503	SO:0001589	frameshift_variant	53833					integral to membrane	receptor activity	g.chr3:136708300delG	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.424delG	3.37:g.136708300delG	ENSP00000328133:p.Gly142fs					IL20RB_ENST00000309741.5_Frame_Shift_Del_p.G95fs|IL20RB_ENST00000484501.1_3'UTR	p.G142fs	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN			4	673	+			142					B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Frame_Shift_Del	DEL	ENST00000329582.4	37	c.424delG	CCDS3093.1																																																																																				0.562	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		14	66						14	66	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T	rs200252504	byFrequency	TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGACTTCTCTGTGAGCTTTG	0.381													|||unknown(ALL_OTHER_Ns)	3992	0.797125	0.888	0.8112	5008	,	,		14038	0.8571		0.6809	False		,,,				2504	0.7219				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195711343_195711344insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711344_195711344dupT								NR_003264.2						0	585	-									RNA	INS	ENST00000427841.1	37																																																																																						0.381	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			2	4						2	4	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-	rs199656890		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		cttagtttacagtgaaaacaa	0.522																																						ENST00000425474.1																			0																																																			646282							g.chr7:99578706delA	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578706delA								NR_036679.1						0	87	+									RNA	DEL	ENST00000425474.1	37																																																																																						0.522	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			7	13						7	13	---	---	---	---
C9orf24	84688	broad.mit.edu	37	9	34381458	34381459	+	Intron	INS	-	-	T	rs374402168		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr9:34381458_34381459insT	ENST00000297623.2	-	4	595				C9orf24_ENST00000379127.1_Intron|C9orf24_ENST00000379124.1_De_novo_Start_OutOfFrame|C9orf24_ENST00000379126.3_De_novo_Start_OutOfFrame|C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379133.3_De_novo_Start_OutOfFrame	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24						cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		AGCGGCACACATGCTACCTCAA	0.599																																						ENST00000379133.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5								chromosome 9 open reading frame 24																																				SO:0001627	intron_variant	84688							g.chr9:34381458_34381459insT	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.397-16->A	9.37:g.34381459_34381459dupT						C9orf24_ENST00000297623.2_Intron|C9orf24_ENST00000379126.3_De_novo_Start_OutOfFrame|C9orf24_ENST00000379127.1_Intron|C9orf24_ENST00000379124.1_De_novo_Start_OutOfFrame		NM_001252195.1|NM_147168.1	NP_001239124.1|NP_671697.1	Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	0	139_140	-								Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Translation_Start_Site	INS	ENST00000297623.2	37		CCDS6554.1																																																																																				0.599	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169		52	31						52	31	---	---	---	---
TAPBPL	55080	broad.mit.edu	37	12	6561460	6561460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr12:6561460delT	ENST00000266556.7	+	1	211	c.46delT	c.(46-48)tctfs	p.S16fs	TAPBPL_ENST00000544021.1_Frame_Shift_Del_p.S16fs|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	16					negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CCTGGCTCTATCTGGAGCAGC	0.632																																						ENST00000266556.7																			0				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						c.(46-48)ctfs		TAP binding protein-like							36.0	29.0	31.0					12																	6561460		2194	4285	6479	SO:0001589	frameshift_variant	55080				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane		g.chr12:6561460delT	AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.46delT	12.37:g.6561460delT	ENSP00000266556:p.Ser16fs					TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_Frame_Shift_Del_p.S16fs	p.S16fs	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN			1	211	+			16					Q9NWB8	Frame_Shift_Del	DEL	ENST00000266556.7	37	c.46delT	CCDS8546.1																																																																																				0.632	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		3	4						3	4	---	---	---	---
ANKRD20A18P	391269	broad.mit.edu	37	21	15436915	15436915	+	RNA	DEL	G	G	-	rs148280092		TCGA-CN-A49B-01A-31D-A24D-08	TCGA-CN-A49B-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc7fce35-d44c-4bf6-b703-f29485dd05df	3da4091f-674f-458d-a115-340b82e74f00	g.chr21:15436915delG	ENST00000428809.1	+	0	177				AP001347.6_ENST00000448463.1_RNA|AP001347.6_ENST00000432621.1_RNA																							CCCCTGGGACGGGGGCCTTGG	0.687																																						ENST00000428809.1																			0																																																			391269							g.chr21:15436915delG																													21.37:g.15436915delG														0	177	+									RNA	DEL	ENST00000428809.1	37																																																																																						0.687	AP001347.6-001	KNOWN	basic	antisense	antisense	OTTHUMT00000157812.1			2	4						2	4	---	---	---	---
