#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
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	G	rs587778720		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:7578211C>G	ENST00000269305.4	-	6	827	c.638G>C	c.(637-639)cGa>cCa	p.R213P	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.R213P|TP53_ENST00000420246.2_Missense_Mutation_p.R213P|TP53_ENST00000445888.2_Missense_Mutation_p.R213P|TP53_ENST00000455263.2_Missense_Mutation_p.R213P|TP53_ENST00000359597.4_Missense_Mutation_p.R213P	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	CACACTATGTCGAAAAGTGTT	0.532		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"""		110	Substitution - Missense(85)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	prostate(15)|large_intestine(14)|urinary_tract(9)|liver(9)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(6)|stomach(6)|oesophagus(6)|kidney(5)|lung(5)|central_nervous_system(4)|ovary(4)|pancreas(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|eye(2)|vulva(1)|endometrium(1)|skin(1)|breast(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	CM004906|CM022474	TP53	M		c.(637-639)cGa>cCa	Other conserved DNA damage response genes	tumor protein p53							132.0	118.0	122.0					17																	7578211		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.chr17:7578211C>G	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.638G>C	17.37:g.7578211C>G	ENSP00000269305:p.Arg213Pro	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_ENST00000455263.2_Missense_Mutation_p.R213P|TP53_ENST00000413465.2_Missense_Mutation_p.R213P|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R213P|TP53_ENST00000445888.2_Missense_Mutation_p.R213P|TP53_ENST00000269305.4_Missense_Mutation_p.R213P	p.R213P	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)	6	770	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.638G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.540259	0.96474	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	4.32	0.51571	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057335	0.64402	D	0.000003	D	0.99871	0.9939	M	0.92507	3.315	0.54753	D	0.99998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;0.999;0.998;1.0	D	0.96662	0.9490	10	0.87932	D	0	-7.5444	11.7807	0.52013	0.0:0.9141:0.0:0.0859	.	174;213;213;120;213;213;213	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	213;213;213;213;213;213;202;120;81;120;81	ENSP00000410739:R213P;ENSP00000352610:R213P;ENSP00000269305:R213P;ENSP00000398846:R213P;ENSP00000391127:R213P;ENSP00000391478:R213P;ENSP00000425104:R81P;ENSP00000423862:R120P	ENSP00000269305:R213P	R	-	2	0	TP53	7518936	0.996000	0.38824	0.185000	0.23176	0.961000	0.63080	7.775000	0.85489	1.367000	0.46095	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	31	0	0	0	0.080935	0	12	31				
DHX36	170506	broad.mit.edu	37	3	154027540	154027540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:154027540G>A	ENST00000496811.1	-	5	795	c.715C>T	c.(715-717)Caa>Taa	p.Q239*	DHX36_ENST00000329463.5_Nonsense_Mutation_p.Q239*|DHX36_ENST00000308361.6_Nonsense_Mutation_p.Q239*|DHX36_ENST00000544526.1_Nonsense_Mutation_p.Q239*	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	239	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGAGTAACTTGAGTGGTTTTG	0.338																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(715-717)Caa>Taa		DEAH (Asp-Glu-Ala-His) box polypeptide 36							92.0	88.0	89.0					3																	154027540		2202	4300	6502	SO:0001587	stop_gained	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154027540G>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.715C>T	3.37:g.154027540G>A	ENSP00000417078:p.Gln239*					DHX36_ENST00000544526.1_Nonsense_Mutation_p.Q239*|DHX36_ENST00000308361.6_Nonsense_Mutation_p.Q239*|DHX36_ENST00000329463.5_Nonsense_Mutation_p.Q239*	p.Q239*	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		5	795	-			239			Helicase ATP-binding.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Nonsense_Mutation	SNP	ENST00000496811.1	37	c.715C>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	G	37	6.388848	0.97529	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8791	0.92350	0.0:0.0:1.0:0.0	.	.	.	.	X	239;239;239;239;153	.	ENSP00000309296:Q239X	Q	-	1	0	DHX36	155510234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.409000	0.97331	2.451000	0.82905	0.650000	0.86243	CAA		0.338	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		5	29	0	0	0	0.014758	0	5	29				
PSMD2	5708	broad.mit.edu	37	3	184025484	184025484	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:184025484G>A	ENST00000310118.4	+	18	2844	c.2286G>A	c.(2284-2286)gtG>gtA	p.V762V	PSMD2_ENST00000435761.1_Silent_p.V603V|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.V632V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	762					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TCTTCATGGTGCGCTTGGCAC	0.507																																					Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(2284-2286)gtG>gtA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						67.0	58.0	61.0					3																	184025484		2203	4300	6503	SO:0001819	synonymous_variant	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184025484G>A	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2286G>A	3.37:g.184025484G>A						PSMD2_ENST00000435761.1_Silent_p.V603V|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.V632V	p.V762V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		18	2844	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		762					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Silent	SNP	ENST00000310118.4	37	c.2286G>A	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	G	8.629	0.893290	0.17613	.	.	ENSG00000175166	ENST00000432855	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	T	0.72293	0.3442	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70121	-0.4959	4	.	.	.	-27.2062	16.8876	0.86079	0.0:0.1277:0.8723:0.0	.	.	.	.	Y	195	.	.	C	+	2	0	PSMD2	185508178	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.688000	0.54699	2.814000	0.96858	0.563000	0.77884	TGC		0.507	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		7	46	0	0	0	0.038147	0	7	46				
CDT1	81620	broad.mit.edu	37	16	88871192	88871192	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:88871192C>T	ENST00000301019.4	+	3	993	c.374C>T	c.(373-375)tCa>tTa	p.S125L		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GAGCTTGCGTCATGCCTGCAA	0.706																																					Melanoma(159;511 3380 30971)	ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(373-375)tCa>tTa		chromatin licensing and DNA replication factor 1							32.0	32.0	32.0					16																	88871192		2196	4300	6496	SO:0001583	missense	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88871192C>T	AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.374C>T	16.37:g.88871192C>T	ENSP00000301019:p.Ser125Leu						p.S125L	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	3	993	+			125						Missense_Mutation	SNP	ENST00000301019.4	37	c.374C>T	CCDS32510.1	.	.	.	.	.	.	.	.	.	.	C	9.063	0.994990	0.19043	.	.	ENSG00000167513	ENST00000301019	T	0.61859	0.07	4.26	0.94	0.19513	.	0.958111	0.08629	N	0.917342	T	0.51907	0.1702	M	0.72894	2.215	0.09310	N	1	B	0.23377	0.084	B	0.17722	0.019	T	0.51124	-0.8745	10	0.56958	D	0.05	.	4.024	0.09678	0.1579:0.5865:0.155:0.1006	.	125	Q9H211	CDT1_HUMAN	L	125	ENSP00000301019:S125L	ENSP00000301019:S125L	S	+	2	0	CDT1	87398693	0.000000	0.05858	0.089000	0.20774	0.022000	0.10575	-0.113000	0.10774	0.924000	0.37069	0.449000	0.29647	TCA		0.706	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1	NM_030928		4	32	0	0	0	0.014758	0	4	32				
MALT1	10892	broad.mit.edu	37	18	56400691	56400691	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr18:56400691G>A	ENST00000348428.3	+	11	1543	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.D418N	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	429	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GGTCCCCGTTGATGCTCCAAA	0.343			T	BIRC3	MALT																																	ENST00000348428.3				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(1285-1287)Gat>Aat		mucosa associated lymphoid tissue lymphoma translocation gene 1							119.0	122.0	121.0					18																	56400691		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56400691G>A		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1285G>A	18.37:g.56400691G>A	ENSP00000319279:p.Asp429Asn					RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.D418N	p.D429N	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN			11	1543	+			429			Caspase-like.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.1285G>A	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.634021	0.67130	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.58797	0.31;0.31	5.52	4.64	0.57946	Peptidase C14, caspase catalytic (1);	0.044227	0.85682	N	0.000000	T	0.66336	0.2779	M	0.73430	2.235	0.58432	D	0.999999	B;B	0.33103	0.345;0.397	B;B	0.43623	0.3;0.425	T	0.69239	-0.5197	10	0.62326	D	0.03	.	13.858	0.63542	0.0743:0.0:0.9256:0.0	.	418;429	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	N	429;418	ENSP00000319279:D429N;ENSP00000304161:D418N	ENSP00000304161:D418N	D	+	1	0	MALT1	54551671	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.443000	0.73447	1.329000	0.45376	0.650000	0.86243	GAT		0.343	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			7	85	0	0	0	0.029380	0	7	85				
WDFY3	23001	broad.mit.edu	37	4	85701359	85701359	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr4:85701359C>A	ENST00000295888.4	-	26	4674	c.4267G>T	c.(4267-4269)Gat>Tat	p.D1423Y	WDFY3_ENST00000322366.6_Missense_Mutation_p.D1423Y	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1423					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTTCCACATCAGAGGCCATG	0.507																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4267-4269)Gat>Tat		WD repeat and FYVE domain containing 3							126.0	115.0	118.0					4																	85701359		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85701359C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4267G>T	4.37:g.85701359C>A	ENSP00000295888:p.Asp1423Tyr					WDFY3_ENST00000295888.4_Missense_Mutation_p.D1423Y	p.D1423Y			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	26	4674	-		Hepatocellular(203;0.114)	1423					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.4267G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980625	0.92982	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.56444	0.46;0.46	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.71196	-0.4664	10	0.45353	T	0.12	.	19.8304	0.96632	0.0:1.0:0.0:0.0	.	1423	Q8IZQ1	WDFY3_HUMAN	Y	1423	ENSP00000318466:D1423Y;ENSP00000295888:D1423Y	ENSP00000295888:D1423Y	D	-	1	0	WDFY3	85920383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.775000	0.95449	0.585000	0.79938	GAT		0.507	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		23	123	1	0	3.62473e-10	0.062417	4.96723e-10	23	123				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	67	0	0	0	0.014758	0	4	67				
SNORD3C	780853	broad.mit.edu	37	17	19091465	19091465	+	lincRNA	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:19091465G>A	ENST00000362428.1	-	0	432				SNORD3A_ENST00000365494.1_lincRNA					small nucleolar RNA, C/D box 3C																		gcgttgcttggctgcaactgc	0.517																																						ENST00000365494.1																			0																				24.0	15.0	18.0					17																	19091465		873	1963	2836			780851							g.chr17:19091465G>A			17p11.2	2013-09-05			ENSG00000199298	ENSG00000264940			33191	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006881		Approved	U3-3					17.37:g.19091465G>A														0	137	+									RNA	SNP	ENST00000362428.1	37																																																																																						0.517	SNORD3C-201	KNOWN	basic	snoRNA	lincRNA		NR_006881		7	209	0	0	0	0.069234	0	7	209				
UBAP2	55833	broad.mit.edu	37	9	33932597	33932597	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:33932597G>C	ENST00000379238.1	-	19	2255	c.2138C>G	c.(2137-2139)tCt>tGt	p.S713C	UBAP2_ENST00000360802.1_Missense_Mutation_p.S713C|UBAP2_ENST00000449054.1_Missense_Mutation_p.S713C|UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000539807.1_Missense_Mutation_p.S468C|UBAP2_ENST00000379239.4_Missense_Mutation_p.S446C|SNORD121B_ENST00000458838.1_RNA					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGCATGTGCAGAGAGGCTGCT	0.567																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(2137-2139)tCt>tGt		ubiquitin associated protein 2							101.0	90.0	94.0					9																	33932597		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33932597G>C	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2138C>G	9.37:g.33932597G>C	ENSP00000368540:p.Ser713Cys					UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.S713C|UBAP2_ENST00000449054.1_Missense_Mutation_p.S713C|UBAP2_ENST00000379239.4_Missense_Mutation_p.S446C|UBAP2_ENST00000539807.1_Missense_Mutation_p.S468C	p.S713C			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	19	2255	-			713						Missense_Mutation	SNP	ENST00000379238.1	37	c.2138C>G	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772239	0.69992	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.52	5.52	0.82312	.	0.539189	0.20636	N	0.088494	T	0.50548	0.1622	M	0.72894	2.215	0.80722	D	1	D;D;D;D;P	0.53885	0.963;0.963;0.963;0.963;0.938	P;P;P;P;P	0.53593	0.73;0.73;0.621;0.73;0.541	T	0.50533	-0.8817	10	0.59425	D	0.04	-9.71	19.7962	0.96484	0.0:0.0:1.0:0.0	.	638;468;446;622;713	F5H4D5;F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;.;UBAP2_HUMAN	C	713;713;713;622;446;468;149	ENSP00000368540:S713C;ENSP00000416932:S713C;ENSP00000354039:S713C;ENSP00000368541:S446C;ENSP00000439329:S468C	ENSP00000259602:S149C	S	-	2	0	UBAP2	33922597	1.000000	0.71417	0.979000	0.43373	0.843000	0.47879	7.399000	0.79935	2.742000	0.94016	0.591000	0.81541	TCT		0.567	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		3	30	0	0	0	0.014758	0	3	30				
RASA1	5921	broad.mit.edu	37	5	86658371	86658371	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr5:86658371C>G	ENST00000274376.6	+	10	1900	c.1336C>G	c.(1336-1338)Caa>Gaa	p.Q446E	RASA1_ENST00000512763.1_Missense_Mutation_p.Q279E|RASA1_ENST00000456692.2_Missense_Mutation_p.Q269E|RASA1_ENST00000506290.1_Missense_Mutation_p.Q280E	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	446					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AATTCAGGATCAAGAACAAGT	0.294																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48	GRCh37	CM033674	RASA1	M		c.(805-807)Caa>Gaa		RAS p21 protein activator (GTPase activating protein) 1							55.0	59.0	58.0					5																	86658371		2203	4297	6500	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86658371C>G		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1336C>G	5.37:g.86658371C>G	ENSP00000274376:p.Gln446Glu					RASA1_ENST00000274376.6_Missense_Mutation_p.Q446E|RASA1_ENST00000506290.1_Missense_Mutation_p.Q280E|RASA1_ENST00000512763.1_Missense_Mutation_p.Q279E	p.Q269E	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	10	920	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	446			SH2 1.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.805C>G	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536896	0.45176	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.28	5.28	0.74379	SH2 motif (1);	0.102691	0.64402	D	0.000002	T	0.77253	0.4103	L	0.34521	1.04	0.58432	D	0.999998	B;B;B;B;B	0.11235	0.0;0.0;0.0;0.004;0.001	B;B;B;B;B	0.14578	0.001;0.0;0.001;0.011;0.001	T	0.70215	-0.4933	10	0.27082	T	0.32	.	19.2595	0.93962	0.0:1.0:0.0:0.0	.	280;279;280;269;446	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	E	446;479;269;279;280	ENSP00000274376:Q446E;ENSP00000411221:Q269E;ENSP00000422008:Q279E;ENSP00000420905:Q280E	ENSP00000274376:Q446E	Q	+	1	0	RASA1	86694127	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.535000	0.67173	2.614000	0.88457	0.455000	0.32223	CAA		0.294	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		6	61	0	0	0	0.029380	0	6	61				
TRAP1	10131	broad.mit.edu	37	16	3724418	3724418	+	Silent	SNP	G	G	A	rs562153382		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:3724418G>A	ENST00000246957.5	-	9	1054	c.966C>T	c.(964-966)caC>caT	p.H322H	TRAP1_ENST00000538171.1_Silent_p.H269H|TRAP1_ENST00000575671.1_Silent_p.H113H|TRAP1_ENST00000573872.1_5'UTR	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	322					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GGGGCTTGTCGTGAGCCTGCG	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20018	0.0		0.0	False		,,,				2504	0.0					ENST00000575671.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(337-339)caC>caT		TNF receptor-associated protein 1							194.0	115.0	141.0					16																	3724418		2197	4300	6497	SO:0001819	synonymous_variant	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3724418G>A	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.966C>T	16.37:g.3724418G>A						TRAP1_ENST00000538171.1_Silent_p.H269H|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000246957.5_Silent_p.H322H	p.H113H			Q12931	TRAP1_HUMAN			4	1068	-		Ovarian(90;0.0261)	322					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Silent	SNP	ENST00000246957.5	37	c.339C>T	CCDS10508.1																																																																																				0.602	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		5	61	0	0	0	0.014758	0	5	61				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			7	53	0	0	0	0.047766	0	7	53				
INSR	3643	broad.mit.edu	37	19	7184590	7184590	+	Silent	SNP	G	G	A	rs368807166		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:7184590G>A	ENST00000302850.5	-	3	853	c.711C>T	c.(709-711)agC>agT	p.S237S	INSR_ENST00000341500.5_Silent_p.S237S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	237	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCAGGCACTCGCTGTGGCAAC	0.587																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(709-711)agC>agT		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						25.0	24.0	24.0					19																	7184590		2202	4299	6501	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7184590G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.711C>T	19.37:g.7184590G>A						INSR_ENST00000302850.5_Silent_p.S237S	p.S237S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			3	750	-			237			Cys-rich.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.711C>T	CCDS12176.1																																																																																				0.587	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			4	42	0	0	0	0.014758	0	4	42				
RP11-252A24.2	0	broad.mit.edu	37	16	74372683	74372683	+	RNA	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:74372683C>T	ENST00000429810.2	-	0	1513																											ATCCATGTTTCTCCATCCACC	0.488																																						ENST00000429810.2																			0																																																			0							g.chr16:74372683C>T																													16.37:g.74372683C>T														0	1513	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.488	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			8	36	0	0	0	0.058154	0	8	36				
AVPR2	554	broad.mit.edu	37	X	153172115	153172115	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:153172115G>C	ENST00000358927.2	+	4	1258	c.1049G>C	c.(1048-1050)aGc>aCc	p.S350T	ARHGAP4_ENST00000467421.1_5'Flank|AVPR2_ENST00000337474.5_Missense_Mutation_p.S350T|AVPR2_ENST00000370049.1_3'UTR			P30518	V2R_HUMAN	arginine vasopressin receptor 2	350					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	ACCCCACCCAGCCTGGGTCCC	0.607																																						ENST00000358927.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26						c.(1048-1050)aGc>aCc		arginine vasopressin receptor 2	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						58.0	54.0	55.0					X																	153172115		2203	4300	6503	SO:0001583	missense	554				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153172115G>C	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.1049G>C	X.37:g.153172115G>C	ENSP00000351805:p.Ser350Thr					AVPR2_ENST00000337474.5_Missense_Mutation_p.S350T|AVPR2_ENST00000370049.1_3'UTR	p.S350T			P30518	V2R_HUMAN			4	1258	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		350					C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.1049G>C	CCDS14735.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	1.084|1.084	-0.665964|-0.665964	0.03428|0.03428	.|.	.|.	ENSG00000126895|ENSG00000126895	ENST00000430697|ENST00000358927;ENST00000337474	T|T;T	0.77358|0.37915	-1.09|1.17;1.17	4.16|4.16	3.21|3.21	0.36854|0.36854	.|.	.|0.750338	.|0.12929	.|N	.|0.427539	T|T	0.29850|0.29850	0.0746|0.0746	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|B	.|0.25007	.|0.116	.|B	.|0.23574	.|0.047	T|T	0.14282|0.14282	-1.0478|-1.0478	7|10	0.72032|0.22109	D|T	0.01|0.4	-17.0946|-17.0946	5.4249|5.4249	0.16419|0.16419	0.1118:0.0:0.6867:0.2015|0.1118:0.0:0.6867:0.2015	.|.	.|350	.|P30518	.|V2R_HUMAN	P|T	321|350	ENSP00000393513:A321P|ENSP00000351805:S350T;ENSP00000338072:S350T	ENSP00000393513:A321P|ENSP00000338072:S350T	A|S	+|+	1|2	0|0	AVPR2|AVPR2	152825309|152825309	0.299000|0.299000	0.24426|0.24426	0.681000|0.681000	0.30009|0.30009	0.016000|0.016000	0.09150|0.09150	3.191000|3.191000	0.50981|0.50981	1.814000|1.814000	0.52955|0.52955	0.418000|0.418000	0.28097|0.28097	GCC|AGC		0.607	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			5	86	0	0	0	0.014758	0	5	86				
RBM27	54439	broad.mit.edu	37	5	145651234	145651234	+	Silent	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr5:145651234C>T	ENST00000265271.5	+	19	3151	c.2985C>T	c.(2983-2985)ttC>ttT	p.F995F	RBM27_ENST00000506502.1_Silent_p.F940F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	995					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGCATTTCTCAGTAAGTT	0.383																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2983-2985)ttC>ttT		RNA binding motif protein 27							88.0	87.0	87.0					5																	145651234		1568	3582	5150	SO:0001819	synonymous_variant	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145651234C>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2985C>T	5.37:g.145651234C>T						RBM27_ENST00000506502.1_Silent_p.F940F	p.F995F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	3151	+			995					Q8IYW9	Silent	SNP	ENST00000265271.5	37	c.2985C>T	CCDS43378.1																																																																																				0.383	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		5	32	0	0	0	0.014758	0	5	32				
MRPS33	51650	broad.mit.edu	37	7	140710224	140710224	+	Silent	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr7:140710224G>C	ENST00000393008.3	-	2	365	c.210C>G	c.(208-210)ctC>ctG	p.L70L	MRPS33_ENST00000496958.1_Silent_p.L70L|MRPS33_ENST00000472343.1_5'Flank|MRPS33_ENST00000324787.5_Silent_p.L70L|MRPS33_ENST00000469351.1_Silent_p.L70L|MRPS33_ENST00000467334.1_Silent_p.L60L	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	70					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					ATCACCTGTAGAGTCCAAGAA	0.408																																						ENST00000393008.3																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(208-210)ctC>ctG		mitochondrial ribosomal protein S33							125.0	121.0	122.0					7																	140710224		2203	4300	6503	SO:0001819	synonymous_variant	51650				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr7:140710224G>C	AF078858	CCDS5864.1	7q34	2012-09-13			ENSG00000090263	ENSG00000090263		"""Mitochondrial ribosomal proteins / small subunits"""	16634	protein-coding gene	gene with protein product		611993				11279123, 10810093	Standard	NM_016071		Approved	CGI-139	uc003vwe.4	Q9Y291	OTTHUMG00000157456	ENST00000393008.3:c.210C>G	7.37:g.140710224G>C						MRPS33_ENST00000467334.1_Silent_p.L60L|MRPS33_ENST00000469351.1_Silent_p.L70L|MRPS33_ENST00000324787.5_Silent_p.L70L|MRPS33_ENST00000496958.1_Silent_p.L70L	p.L70L	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN			2	365	-	Melanoma(164;0.00956)		70						Silent	SNP	ENST00000393008.3	37	c.210C>G	CCDS5864.1																																																																																				0.408	MRPS33-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348878.1	NM_053035		13	85	0	0	0	0.016723	0	13	85				
SMC2	10592	broad.mit.edu	37	9	106896745	106896745	+	Missense_Mutation	SNP	A	A	G	rs369017202		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:106896745A>G	ENST00000286398.7	+	23	3446	c.3158A>G	c.(3157-3159)aAt>aGt	p.N1053S	SMC2_ENST00000303219.8_Missense_Mutation_p.N1053S|SMC2_ENST00000374793.3_Missense_Mutation_p.N1053S|SMC2_ENST00000374787.3_Missense_Mutation_p.N1053S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1053					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CCTGGTGCTAATGCTATGCTT	0.393																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(3157-3159)aAt>aGt		structural maintenance of chromosomes 2		A	SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	123.0	120.0	121.0		3158,3158,3158	5.8	1.0	9		121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SMC2	NM_006444.2,NM_001042551.1,NM_001042550.1	46,46,46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	1053/1198,1053/1198,1053/1198	106896745	1,13005	2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106896745A>G	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3158A>G	9.37:g.106896745A>G	ENSP00000286398:p.Asn1053Ser					SMC2_ENST00000303219.8_Missense_Mutation_p.N1053S|SMC2_ENST00000374787.3_Missense_Mutation_p.N1053S|SMC2_ENST00000374793.3_Missense_Mutation_p.N1053S	p.N1053S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			23	3446	+			1053					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.3158A>G	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.596984	0.28445	0.0	1.16E-4	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.05717	3.4;3.4;3.4;3.4	5.79	5.79	0.91817	RecF/RecN/SMC (1);	0.082626	0.85682	D	0.000000	T	0.04363	0.0120	N	0.20401	0.57	0.37810	D	0.928023	B	0.11235	0.004	B	0.17098	0.017	T	0.38436	-0.9661	10	0.09338	T	0.73	-24.5544	10.1551	0.42818	0.9218:0.0:0.0782:0.0	.	1053	O95347	SMC2_HUMAN	S	1053	ENSP00000286398:N1053S;ENSP00000363925:N1053S;ENSP00000306152:N1053S;ENSP00000363919:N1053S	ENSP00000286398:N1053S	N	+	2	0	SMC2	105936566	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.241000	0.58707	2.213000	0.71641	0.397000	0.26171	AAT		0.393	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			5	54	0	0	0	0.021553	0	5	54				
ITGAV	3685	broad.mit.edu	37	2	187529348	187529348	+	Missense_Mutation	SNP	G	G	A	rs200130364		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:187529348G>A	ENST00000261023.3	+	20	2327	c.2053G>A	c.(2053-2055)Ggg>Agg	p.G685R	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.G639R|ITGAV_ENST00000374907.3_Missense_Mutation_p.G649R	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	685					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.G685W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TGATTTCATCGGGGTTGTCCG	0.433																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			1	Substitution - Missense(1)	p.G685W(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(2053-2055)Ggg>Agg		integrin, alpha V							152.0	143.0	146.0					2																	187529348		2203	4299	6502	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187529348G>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2053G>A	2.37:g.187529348G>A	ENSP00000261023:p.Gly685Arg					AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.G639R|ITGAV_ENST00000374907.3_Missense_Mutation_p.G649R	p.G685R	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	20	2327	+			685					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.2053G>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223658	0.95139	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.41758	0.99;0.99;0.99	6.17	6.17	0.99709	Integrin alpha-2 (1);	0.096139	0.64402	D	0.000001	T	0.60766	0.2294	L	0.43646	1.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.995	T	0.55263	-0.8168	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	639;649;685	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	R	685;649;639	ENSP00000261023:G685R;ENSP00000364042:G649R;ENSP00000404291:G639R	ENSP00000261023:G685R	G	+	1	0	ITGAV	187237593	1.000000	0.71417	0.998000	0.56505	0.725000	0.41563	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGG		0.433	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		14	137	0	0	0	0.024245	0	14	137				
GGT7	2686	broad.mit.edu	37	20	33451191	33451191	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr20:33451191G>A	ENST00000336431.5	-	2	374	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	110					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGGCCGTGACGATGACCGTGA	0.677																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(328-330)atC>atT		gamma-glutamyltransferase 7							42.0	36.0	38.0					20																	33451191		2202	4300	6502	SO:0001819	synonymous_variant	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33451191G>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.330C>T	20.37:g.33451191G>A							p.I110I	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			2	374	-			110					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	c.330C>T	CCDS13242.2																																																																																				0.677	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		9	72	0	0	0	0.058154	0	9	72				
MOCS2	4338	broad.mit.edu	37	5	52398014	52398014	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr5:52398014T>C	ENST00000396954.3	-	4	816	c.139A>G	c.(139-141)Ata>Gta	p.I47V	MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000584946.1_Intron|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000527216.1_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000361377.4_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				GTAAAGTTTATAACATCTTTA	0.358																																						ENST00000396954.3																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(139-141)Ata>Gta		molybdenum cofactor synthesis 2							79.0	75.0	76.0					5																	52398014		2203	4300	6503	SO:0001583	missense	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52398014T>C	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.139A>G	5.37:g.52398014T>C	ENSP00000380157:p.Ile47Val					MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000584946.1_Intron|MOCS2_ENST00000508922.1_3'UTR	p.I47V	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN			4	816	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	0						Missense_Mutation	SNP	ENST00000396954.3	37	c.139A>G	CCDS3958.1	.	.	.	.	.	.	.	.	.	.	T	9.901	1.206782	0.22205	.	.	ENSG00000164172	ENST00000396954;ENST00000527216	T	0.22743	1.94	5.81	5.81	0.92471	.	0.050170	0.85682	D	0.000000	T	0.18045	0.0433	N	0.25286	0.73	0.80722	D	1	B	0.27140	0.169	B	0.34180	0.177	T	0.10291	-1.0636	10	0.16896	T	0.51	-8.8258	16.179	0.81887	0.0:0.0:0.0:1.0	.	47	O96007	MOC2B_HUMAN	V	47	ENSP00000380157:I47V	ENSP00000380157:I47V	I	-	1	0	MOCS2	52433771	1.000000	0.71417	0.840000	0.33206	0.021000	0.10359	3.464000	0.53057	2.225000	0.72522	0.455000	0.32223	ATA		0.358	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		3	22	0	0	0	0.004672	0	3	22				
HSP90AB1	3326	broad.mit.edu	37	6	44221083	44221083	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:44221083A>T	ENST00000371554.1	+	11	2247	c.2033A>T	c.(2032-2034)aAc>aTc	p.N678I	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.N678I|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.N678I			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	678					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCCACTCCAACCGCATCTAT	0.488																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(2032-2034)aAc>aTc		heat shock protein 90kDa alpha (cytosolic), class B member 1							297.0	298.0	298.0					6																	44221083		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221083A>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2033A>T	6.37:g.44221083A>T	ENSP00000360609:p.Asn678Ile					HSP90AB1_ENST00000353801.3_Missense_Mutation_p.N678I|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.N678I	p.N678I			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	2247	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		678					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.2033A>T	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.336847	0.81801	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.46819	0.86;0.86;0.86	4.56	4.56	0.56223	.	0.000000	0.85682	U	0.000000	T	0.61615	0.2361	M	0.89904	3.07	0.80722	D	1	P;P;P	0.44690	0.841;0.828;0.841	P;P;P	0.54431	0.601;0.752;0.482	T	0.71297	-0.4635	10	0.72032	D	0.01	-33.495	14.197	0.65677	1.0:0.0:0.0:0.0	.	640;668;678	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	I	678	ENSP00000360709:N678I;ENSP00000325875:N678I;ENSP00000360609:N678I	ENSP00000325875:N678I	N	+	2	0	HSP90AB1	44329061	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.291000	0.96070	1.836000	0.53414	0.416000	0.27883	AAC		0.488	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		37	331	0	0	0	0.086207	0	37	331				
RPA1	6117	broad.mit.edu	37	17	1782859	1782859	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:1782859A>G	ENST00000254719.5	+	11	1068	c.958A>G	c.(958-960)Atc>Gtc	p.I320V		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	320					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TTTAGACATCATCGGGATCTG	0.493								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(958-960)Atc>Gtc	Nucleotide excision repair (NER)	replication protein A1, 70kDa							133.0	125.0	128.0					17																	1782859		2203	4300	6503	SO:0001583	missense	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1782859A>G	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.958A>G	17.37:g.1782859A>G	ENSP00000254719:p.Ile320Val						p.I320V	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN			11	1068	+			320					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.958A>G	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972888	0.34848	.	.	ENSG00000132383	ENST00000254719	T	0.20069	2.1	5.93	4.83	0.62350	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	L	0.61218	1.895	0.80722	D	1	B	0.33739	0.422	B	0.32393	0.145	T	0.01675	-1.1298	10	0.40728	T	0.16	-14.983	13.1967	0.59743	0.8669:0.1331:0.0:0.0	.	320	P27694	RFA1_HUMAN	V	320	ENSP00000254719:I320V	ENSP00000254719:I320V	I	+	1	0	RPA1	1729609	1.000000	0.71417	0.994000	0.49952	0.224000	0.24922	8.962000	0.93254	1.037000	0.40024	0.482000	0.46254	ATC		0.493	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		52	91	0	0	0	0.048971	0	52	91				
MYO1D	4642	broad.mit.edu	37	17	31099821	31099821	+	Missense_Mutation	SNP	G	G	T	rs140725997		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:31099821G>T	ENST00000318217.5	-	5	908	c.604C>A	c.(604-606)Cat>Aat	p.H202N	MYO1D_ENST00000583621.1_Missense_Mutation_p.H202N|MYO1D_ENST00000579584.1_Missense_Mutation_p.H202N|MYO1D_ENST00000394649.4_Missense_Mutation_p.H114N	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	202	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TAGAAAGAATGAAAGCTTCTT	0.388																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(604-606)Cat>Aat		myosin ID							140.0	147.0	145.0					17																	31099821		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31099821G>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.604C>A	17.37:g.31099821G>T	ENSP00000324527:p.His202Asn					MYO1D_ENST00000579584.1_Missense_Mutation_p.H202N|MYO1D_ENST00000583621.1_Missense_Mutation_p.H202N|MYO1D_ENST00000394649.4_Missense_Mutation_p.H114N	p.H202N	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		5	908	-			202			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.604C>A	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513385	0.85389	.	.	ENSG00000176658	ENST00000318217	D	0.92099	-2.97	5.49	5.49	0.81192	Myosin head, motor domain (2);	0.000000	0.40640	U	0.001048	D	0.97857	0.9296	H	0.98701	4.305	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	D	0.99410	1.0930	10	0.87932	D	0	.	16.8668	0.86030	0.0:0.0:1.0:0.0	.	113;202	Q7Z3N6;O94832	.;MYO1D_HUMAN	N	202	ENSP00000324527:H202N	ENSP00000324527:H202N	H	-	1	0	MYO1D	28123934	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.944000	0.92980	2.561000	0.86390	0.650000	0.86243	CAT		0.388	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			19	157	1	0	1.40151e-16	0.055883	1.93854e-16	19	157				
HCFC1	3054	broad.mit.edu	37	X	153218117	153218117	+	Missense_Mutation	SNP	G	G	A	rs372010656		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:153218117G>A	ENST00000310441.7	-	19	5756	c.4790C>T	c.(4789-4791)gCt>gTt	p.A1597V	HCFC1_ENST00000369984.4_Missense_Mutation_p.A1641V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A1528V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1597					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGTGCCAGCTTGGGCCTC	0.652																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(4789-4791)gCt>gTt		host cell factor C1 (VP16-accessory protein)		G	VAL/ALA	0,3532		0,0,1482,568	42.0	49.0	47.0		4790	5.8	1.0	X		47	1,6530		0,1,2365,1799	no	missense	HCFC1	NM_005334.2	64	0,1,3847,2367	AA,AG,GG,G		0.0153,0.0,0.0099	benign	1597/2036	153218117	1,10062	2050	4165	6215	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153218117G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.4790C>T	X.37:g.153218117G>A	ENSP00000309555:p.Ala1597Val					HCFC1_ENST00000369984.4_Missense_Mutation_p.A1641V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A1528V	p.A1597V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			19	5756	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1597					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.4790C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636441	0.47049	0.0	1.53E-4	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03635	3.89;3.86;3.88	5.79	5.79	0.91817	.	0.379952	0.30093	N	0.010433	T	0.02888	0.0086	N	0.08118	0	0.29575	N	0.849573	B	0.30482	0.281	B	0.26969	0.075	T	0.31641	-0.9936	10	0.72032	D	0.01	.	15.7946	0.78401	0.0:0.0:1.0:0.0	.	1597	P51610	HCFC1_HUMAN	V	1597;1641;1528	ENSP00000309555:A1597V;ENSP00000359001:A1641V;ENSP00000346174:A1528V	ENSP00000309555:A1597V	A	-	2	0	HCFC1	152871311	1.000000	0.71417	0.976000	0.42696	0.398000	0.30690	5.727000	0.68523	2.443000	0.82685	0.513000	0.50165	GCT		0.652	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		4	61	0	0	0	0.009096	0	4	61				
CTNNA2	1496	broad.mit.edu	37	2	80085227	80085227	+	Silent	SNP	T	T	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:80085227T>G	ENST00000402739.4	+	3	392	c.387T>G	c.(385-387)gcT>gcG	p.A129A	CTNNA2_ENST00000541047.1_Silent_p.A129A|CTNNA2_ENST00000496558.1_Silent_p.A129A|CTNNA2_ENST00000361291.4_Silent_p.A163A|CTNNA2_ENST00000540488.1_Silent_p.A129A|CTNNA2_ENST00000466387.1_Silent_p.A129A	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	129					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGGCAAGGGCTTTGCTCTCCG	0.532																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(385-387)gcT>gcG		catenin (cadherin-associated protein), alpha 2							85.0	83.0	84.0					2																	80085227		2060	4193	6253	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80085227T>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.387T>G	2.37:g.80085227T>G						CTNNA2_ENST00000496558.1_Silent_p.A129A|CTNNA2_ENST00000361291.4_Silent_p.A163A|CTNNA2_ENST00000402739.4_Silent_p.A129A|CTNNA2_ENST00000541047.1_Silent_p.A129A|CTNNA2_ENST00000540488.1_Silent_p.A129A	p.A129A			P26232	CTNA2_HUMAN			8	1111	+			129					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.387T>G																																																																																					0.532	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		7	97	0	0	0	0.038147	0	7	97				
NBPF9	400818	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:144828704T>G	ENST00000281815.8	+	13	1290	c.544T>G	c.(544-546)Tac>Gac	p.Y182D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.Y584D			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	842	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.L657L(3)|p.Y584D(1)		NS(2)|prostate(1)	3						CTTCGCCCTTTACGTGGACAA	0.438																																						ENST00000338347.4																			4	Substitution - coding silent(3)|Substitution - Missense(1)	p.L657L(3)|p.Y584D(1)	prostate(4)	NS(2)|prostate(1)	3						c.(1750-1752)Tac>Gac		neuroblastoma breakpoint family, member 9							35.0	31.0	32.0					1																	144828704		692	1579	2271	SO:0001583	missense	400818							g.chr1:144828704T>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.544T>G	1.37:g.144828704T>G	ENSP00000281815:p.Tyr182Asp					NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR	p.Y584D							14	1750	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1750T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.386623|-3.386623	0.00014|0.00014	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000281815	.|T;T	.|0.04194	.|3.68;3.68	0.618|0.618	-1.24|-1.24	0.09435|0.09435	.|.	.|.	.|.	.|.	.|.	T|T	0.00384|0.00384	0.0012|0.0012	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.12013	.|0.0;0.0;0.003;0.001;0.005	.|B;B;B;B;B	.|0.15484	.|0.003;0.001;0.013;0.004;0.01	T|T	0.43114|0.43114	-0.9411|-0.9411	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|648;244;815;590;657	.|Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.|.;.;.;.;.	L|D	657|584;182	.|ENSP00000342975:Y584D;ENSP00000281815:Y182D	.|ENSP00000281815:Y182D	F|Y	+|+	3|1	2|0	NBPF9|NBPF9	143540061|143540061	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.866000|-0.866000	0.04245|0.04245	-1.717000|-1.717000	0.01385|0.01385	-1.365000|-1.365000	0.01206|0.01206	TTT|TAC		0.438	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		4	273	0	0	0	0.014758	0	4	273				
CCDC130	81576	broad.mit.edu	37	19	13873753	13873753	+	Silent	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:13873753G>C	ENST00000586600.1	+	11	1565	c.1062G>C	c.(1060-1062)ggG>ggC	p.G354G	MRI1_ENST00000319545.8_5'Flank|CCDC130_ENST00000221554.8_Silent_p.G354G|MRI1_ENST00000040663.6_5'Flank			P13994	CC130_HUMAN	coiled-coil domain containing 130	354					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GGCAGGAAGGGAGCCGTCAGG	0.692																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1060-1062)ggG>ggC		coiled-coil domain containing 130							13.0	16.0	15.0					19																	13873753		2188	4269	6457	SO:0001819	synonymous_variant	81576				response to virus		protein binding	g.chr19:13873753G>C	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.1062G>C	19.37:g.13873753G>C						CCDC130_ENST00000221554.8_Silent_p.G354G	p.G354G			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		11	1565	+			354					Q9BQ72	Silent	SNP	ENST00000586600.1	37	c.1062G>C	CCDS12296.1																																																																																				0.692	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		6	21	0	0	0	0.038147	0	6	21				
PHF20L1	51105	broad.mit.edu	37	8	133823320	133823320	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr8:133823320G>C	ENST00000395386.2	+	9	1176	c.877G>C	c.(877-879)Gat>Cat	p.D293H	PHF20L1_ENST00000395390.2_Missense_Mutation_p.D268H|PHF20L1_ENST00000395379.1_Missense_Mutation_p.D293H|PHF20L1_ENST00000395376.1_Missense_Mutation_p.D298H|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Missense_Mutation_p.D267H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	293							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGTTGGGGTTGATGGTGCTGA	0.363																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(877-879)Gat>Cat		PHD finger protein 20-like 1							148.0	158.0	154.0					8																	133823320		2203	4300	6503	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133823320G>C	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.877G>C	8.37:g.133823320G>C	ENSP00000378784:p.Asp293His					PHF20L1_ENST00000395374.1_Missense_Mutation_p.D132H|PHF20L1_ENST00000395376.1_Missense_Mutation_p.D298H|PHF20L1_ENST00000395383.1_Missense_Mutation_p.D297H|PHF20L1_ENST00000395390.2_Missense_Mutation_p.D268H|PHF20L1_ENST00000337920.4_Missense_Mutation_p.D267H|PHF20L1_ENST00000315808.10_Missense_Mutation_p.D293H|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395382.3_Missense_Mutation_p.D163H|PHF20L1_ENST00000395379.1_Missense_Mutation_p.D293H	p.D293H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		9	1176	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		293					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.877G>C	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342726	0.82022	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395382;ENST00000395390;ENST00000395374	T;T;T;T;T;T;T;T	0.60299	0.31;0.46;0.2;1.03;0.25;0.43;0.48;1.02	6.03	6.03	0.97812	.	0.242355	0.44285	D	0.000465	T	0.68559	0.3014	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.83275	0.994;0.964;0.996;0.976;0.935	T	0.69371	-0.5163	10	0.72032	D	0.01	-17.3672	17.7803	0.88522	0.0:0.0:1.0:0.0	.	268;132;293;293;267	F8W9L8;G5E9D0;A8MW92;A8MW92-4;A8MW92-2	.;.;P20L1_HUMAN;.;.	H	297;293;268;293;293;267;298;163;268;132	ENSP00000378781:D297H;ENSP00000378777:D293H;ENSP00000355301:D268H;ENSP00000378784:D293H;ENSP00000324519:D293H;ENSP00000338269:D267H;ENSP00000378775:D298H;ENSP00000378788:D268H	ENSP00000324519:D293H	D	+	1	0	PHF20L1	133892502	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.774000	0.75012	2.886000	0.99085	0.644000	0.83932	GAT		0.363	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		29	88	0	0	0	0.059317	0	29	88				
KANK4	163782	broad.mit.edu	37	1	62740512	62740512	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:62740512G>A	ENST00000371153.4	-	3	642	c.264C>T	c.(262-264)ctC>ctT	p.L88L	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	88						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACCAGTTTTGGAGGGGCGGGG	0.602																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(262-264)ctC>ctT		KN motif and ankyrin repeat domains 4							64.0	76.0	72.0					1																	62740512		2203	4300	6503	SO:0001819	synonymous_variant	163782							g.chr1:62740512G>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.264C>T	1.37:g.62740512G>A						KANK4_ENST00000354381.3_Intron	p.L88L	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	642	-			88					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.264C>T	CCDS620.1																																																																																				0.602	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		6	153	0	0	0	0.021553	0	6	153				
RPGRIP1	57096	broad.mit.edu	37	14	21795832	21795832	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr14:21795832G>A	ENST00000400017.2	+	17	2761	c.2761G>A	c.(2761-2763)Gtg>Atg	p.V921M	RPGRIP1_ENST00000382933.4_Missense_Mutation_p.V247M|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.V921M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.V578M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.V883M|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.V280M	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	921					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATCTATTCAAGTGCAACTGGA	0.433																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(2761-2763)Gtg>Atg		retinitis pigmentosa GTPase regulator interacting protein 1							87.0	82.0	84.0					14																	21795832		1843	4101	5944	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21795832G>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2761G>A	14.37:g.21795832G>A	ENSP00000382895:p.Val921Met					RPGRIP1_ENST00000400017.2_Missense_Mutation_p.V921M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.V883M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.V578M|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.V280M|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.V247M	p.V921M			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	17	2761	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	921					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.2761G>A	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492539	0.26774	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	T;D;D;D;T;D;D	0.89552	-1.0;-2.53;-2.53;-2.53;-1.38;-2.53;-2.53	4.58	-3.65	0.04502	.	0.910504	0.09480	N	0.796502	T	0.81898	0.4920	M	0.64170	1.965	0.09310	N	1	B;B;B;P;B;B	0.38335	0.166;0.447;0.166;0.627;0.166;0.177	B;B;B;B;B;B	0.36030	0.045;0.097;0.049;0.216;0.049;0.02	T	0.72191	-0.4365	10	0.87932	D	0	-0.0852	0.1994	0.00143	0.3461:0.1803:0.2301:0.2435	.	304;280;396;247;537;921	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;.;.;RPGR1_HUMAN	M	578;883;921;921;247;396;280	ENSP00000450445:V578M;ENSP00000451219:V883M;ENSP00000382895:V921M;ENSP00000206660:V921M;ENSP00000372391:V247M;ENSP00000451262:V396M;ENSP00000309721:V280M	ENSP00000206660:V921M	V	+	1	0	RPGRIP1	20865672	0.123000	0.22298	0.116000	0.21606	0.863000	0.49368	0.101000	0.15251	-0.497000	0.06641	-0.157000	0.13467	GTG		0.433	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		12	55	0	0	0	0.016723	0	12	55				
HSP90AB1	3326	broad.mit.edu	37	6	44217204	44217204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:44217204C>T	ENST00000371554.1	+	3	452	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.Q80*|HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.Q80*			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	80					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCCAACCCTCAGGAACGTAC	0.458																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(238-240)Cag>Tag		heat shock protein 90kDa alpha (cytosolic), class B member 1							89.0	80.0	83.0					6																	44217204		2203	4300	6503	SO:0001587	stop_gained	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44217204C>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.238C>T	6.37:g.44217204C>T	ENSP00000360609:p.Gln80*					HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.Q80*|HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.Q80*	p.Q80*			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	452	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		80					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Nonsense_Mutation	SNP	ENST00000371554.1	37	c.238C>T	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	36	5.650945	0.96714	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	.	.	.	4.57	4.57	0.56435	.	0.577108	0.15292	U	0.270088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-22.7793	17.7342	0.88388	0.0:1.0:0.0:0.0	.	.	.	.	X	80	.	ENSP00000325875:Q80X	Q	+	1	0	HSP90AB1	44325182	0.987000	0.35691	1.000000	0.80357	0.985000	0.73830	2.894000	0.48640	2.288000	0.76882	0.555000	0.69702	CAG		0.458	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		11	70	0	0	0	0.069234	0	11	70				
KLHL25	64410	broad.mit.edu	37	15	86312762	86312762	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr15:86312762G>T	ENST00000337975.5	-	2	554	c.280C>A	c.(280-282)Cac>Aac	p.H94N	KLHL25_ENST00000536947.1_Missense_Mutation_p.H94N|KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	94	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						ACCTCCGGGTGCAGGTTGTCC	0.612																																						ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(280-282)Cac>Aac		kelch-like family member 25							75.0	75.0	75.0					15																	86312762		2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86312762G>T		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.280C>A	15.37:g.86312762G>T	ENSP00000336800:p.His94Asn					KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.H94N	p.H94N	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	554	-			94			BTB.		B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.280C>A	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079475	0.36662	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.69435	-0.4;-0.4	4.79	4.79	0.61399	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.109676	0.64402	D	0.000008	T	0.53883	0.1824	N	0.17594	0.5	0.47819	D	0.999526	B	0.06786	0.001	B	0.16722	0.016	T	0.53809	-0.8386	10	0.62326	D	0.03	.	16.8957	0.86099	0.0:0.0:1.0:0.0	.	94	Q9H0H3	ENC2_HUMAN	N	94;63;94	ENSP00000336800:H94N;ENSP00000444739:H94N	ENSP00000336800:H94N	H	-	1	0	KLHL25	84113766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.863000	0.87023	2.234000	0.73211	0.442000	0.29010	CAC		0.612	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		4	73	1	0	0.00024832	0.009096	0.000331093	4	73				
MICALCL	84953	broad.mit.edu	37	11	12313774	12313774	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr11:12313774C>T	ENST00000256186.2	+	2	350	c.59C>T	c.(58-60)tCa>tTa	p.S20L		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	20	Ser-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		tcttcccattcatcttcccca	0.517																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(58-60)tCa>tTa		MICAL C-terminal like							205.0	209.0	208.0					11																	12313774		1953	4138	6091	SO:0001583	missense	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12313774C>T	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.59C>T	11.37:g.12313774C>T	ENSP00000256186:p.Ser20Leu						p.S20L	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	2	350	+			20			Ser-rich.		Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	c.59C>T	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212732	0.22289	.	.	ENSG00000133808	ENST00000533534;ENST00000256186	T	0.12774	2.65	2.1	0.0485	0.14285	.	1.914250	0.03208	N	0.175748	T	0.10380	0.0254	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35847	-0.9772	10	0.72032	D	0.01	.	3.2223	0.06720	0.0:0.5422:0.2811:0.1767	.	20	Q6ZW33	MICLK_HUMAN	L	20	ENSP00000256186:S20L	ENSP00000256186:S20L	S	+	2	0	MICALCL	12270350	0.022000	0.18835	0.000000	0.03702	0.002000	0.02628	1.907000	0.39897	0.016000	0.14998	-0.229000	0.12294	TCA		0.517	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		10	49	0	0	0	0.058154	0	10	49				
TM9SF4	9777	broad.mit.edu	37	20	30723921	30723921	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr20:30723921C>G	ENST00000398022.2	+	3	409	c.174C>G	c.(172-174)taC>taG	p.Y58*	TM9SF4_ENST00000217315.5_Nonsense_Mutation_p.Y41*	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	58						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTTATGAATACTATTCACTGC	0.512																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(121-123)taC>taG		transmembrane 9 superfamily protein member 4							118.0	98.0	105.0					20																	30723921		2203	4300	6503	SO:0001587	stop_gained	9777					integral to membrane		g.chr20:30723921C>G	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.174C>G	20.37:g.30723921C>G	ENSP00000381104:p.Tyr58*					TM9SF4_ENST00000398022.2_Nonsense_Mutation_p.Y58*	p.Y41*			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	463	+			58					B0QYT7|Q9NUA3	Nonsense_Mutation	SNP	ENST00000398022.2	37	c.123C>G	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	.	35	5.479545	0.96307	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	.	.	.	5.73	3.47	0.39725	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5909	9.8424	0.41006	0.0:0.7171:0.0:0.2829	.	.	.	.	X	58;41	.	ENSP00000217315:Y41X	Y	+	3	2	TM9SF4	30187582	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.918000	0.40006	1.424000	0.47217	0.655000	0.94253	TAC		0.512	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		13	68	0	0	0	0.016723	0	13	68				
EML5	161436	broad.mit.edu	37	14	89124674	89124674	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr14:89124674C>T	ENST00000380664.5	-	26	3733	c.3734G>A	c.(3733-3735)cGc>cAc	p.R1245H	EML5_ENST00000352093.5_Missense_Mutation_p.R1207H|EML5_ENST00000554922.1_Missense_Mutation_p.R1245H			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1245						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATAAGTCCAGCGAACATTTGT	0.398																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3733-3735)cGc>cAc		echinoderm microtubule associated protein like 5							148.0	133.0	137.0					14																	89124674		1889	4120	6009	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89124674C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3734G>A	14.37:g.89124674C>T	ENSP00000370039:p.Arg1245His					EML5_ENST00000380664.5_Missense_Mutation_p.R1245H|EML5_ENST00000352093.5_Missense_Mutation_p.R1207H	p.R1245H	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			26	3982	-			1245					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.3734G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020030	0.93462	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.40476	1.03;1.57;1.03	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.932	T	0.79638	-0.1720	10	0.54805	T	0.06	-10.3411	17.9931	0.89175	0.0:1.0:0.0:0.0	.	1245;1245	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	H	1245;1207;1245	ENSP00000451998:R1245H;ENSP00000298315:R1207H;ENSP00000370039:R1245H	ENSP00000298315:R1207H	R	-	2	0	EML5	88194427	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.534000	0.82004	2.550000	0.86006	0.557000	0.71058	CGC		0.398	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			7	135	0	0	0	0.029380	0	7	135				
ZNF430	80264	broad.mit.edu	37	19	21239599	21239599	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:21239599A>T	ENST00000261560.5	+	5	666	c.485A>T	c.(484-486)tAt>tTt	p.Y162F	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	162					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y162C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAAGAATGTTATGATGAACTA	0.303																																						ENST00000261560.5																			1	Substitution - Missense(1)	p.Y162C(1)	breast(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(484-486)tAt>tTt		zinc finger protein 430							71.0	73.0	72.0					19																	21239599		2203	4300	6503	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21239599A>T	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.485A>T	19.37:g.21239599A>T	ENSP00000261560:p.Tyr162Phe						p.Y162F	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN			5	666	+			162					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.485A>T	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.364468	0.24684	.	.	ENSG00000118620	ENST00000261560	T	0.05139	3.49	1.23	1.23	0.21249	.	.	.	.	.	T	0.09774	0.0240	M	0.85041	2.73	0.09310	N	1	P;B	0.48089	0.905;0.054	B;B	0.39617	0.305;0.043	T	0.21449	-1.0245	9	0.39692	T	0.17	.	6.2004	0.20573	1.0:0.0:0.0:0.0	.	161;162	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	F	162	ENSP00000261560:Y162F	ENSP00000261560:Y162F	Y	+	2	0	ZNF430	21031439	0.000000	0.05858	0.013000	0.15412	0.024000	0.10985	0.123000	0.15708	0.506000	0.28125	0.374000	0.22700	TAT		0.303	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		4	31	0	0	0	0.009096	0	4	31				
THAP7	80764	broad.mit.edu	37	22	21354371	21354371	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr22:21354371C>T	ENST00000215742.4	-	4	902	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	THAP7_ENST00000399133.2_Missense_Mutation_p.R243Q|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000429962.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	243					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCCTCGGCTCGCCGCTTCCA	0.662																																						ENST00000215742.4																			0				cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8						c.(727-729)cGa>cAa		THAP domain containing 7							17.0	18.0	17.0					22																	21354371		2196	4284	6480	SO:0001583	missense	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21354371C>T	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.728G>A	22.37:g.21354371C>T	ENSP00000215742:p.Arg243Gln					THAP7_ENST00000399133.2_Missense_Mutation_p.R243Q	p.R243Q	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		4	902	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	243					B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	c.728G>A	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677079	0.88445	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.99005	-5.32;-5.32	4.25	4.25	0.50352	.	0.095587	0.36893	N	0.002360	D	0.98242	0.9418	N	0.24115	0.695	0.45762	D	0.998651	D	0.89917	1.0	D	0.76071	0.987	D	0.97727	1.0200	10	0.34782	T	0.22	-11.3802	14.5137	0.67804	0.0:1.0:0.0:0.0	.	243	Q9BT49	THAP7_HUMAN	Q	243	ENSP00000215742:R243Q;ENSP00000382084:R243Q	ENSP00000215742:R243Q	R	-	2	0	THAP7	19684371	1.000000	0.71417	0.997000	0.53966	0.862000	0.49288	4.819000	0.62664	2.321000	0.78463	0.655000	0.94253	CGA		0.662	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		4	31	0	0	0	0.014758	0	4	31				
HIST4H4	121504	broad.mit.edu	37	12	14923813	14923813	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr12:14923813T>C	ENST00000539745.1	-	1	252	c.206A>G	c.(205-207)gAc>gGc	p.D69G	RP11-174G6.5_ENST00000562691.2_RNA|HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	69					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						AGTCACCGCGTCACGGATCAC	0.617											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000539745.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						c.(205-207)gAc>gGc		histone cluster 4, H4							101.0	82.0	89.0					12																	14923813		2203	4300	6503	SO:0001583	missense	121504				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr12:14923813T>C	AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"""Histones / Replication-dependent"""	20510	protein-coding gene	gene with protein product		615069	"""histone 4, H4"""			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.206A>G	12.37:g.14923813T>C	ENSP00000443017:p.Asp69Gly		OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	698		p.D69G	NM_175054.2	NP_778224.1	P62805	H4_HUMAN			1	252	-			69					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000539745.1	37	c.206A>G	CCDS8665.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.498291	0.64186	.	.	ENSG00000197837	ENST00000539745	T	0.71222	-0.55	3.99	3.99	0.46301	.	0.000000	0.53938	U	0.000047	T	0.77811	0.4186	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80148	-0.1503	7	0.66056	D	0.02	.	11.1989	0.48730	0.0:0.0:0.0:1.0	.	.	.	.	G	69	ENSP00000443017:D69G	ENSP00000350767:D69G	D	-	2	0	HIST4H4	14815080	1.000000	0.71417	0.046000	0.18839	0.299000	0.27559	7.410000	0.80065	1.817000	0.53016	0.477000	0.44152	GAC		0.617	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1	NM_175054		13	85	0	0	0	0.013537	0	13	85				
NOTCH1	4851	broad.mit.edu	37	9	139413084	139413084	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:139413084C>T	ENST00000277541.6	-	6	1133	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	353	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R353H(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGAGGCCACACGGTCATGGCA	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.R353H(2)	upper_aerodigestive_tract(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1057-1059)cGt>cAt		notch 1							27.0	33.0	31.0					9																	139413084		2197	4292	6489	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413084C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1058G>A	9.37:g.139413084C>T	ENSP00000277541:p.Arg353His	HNSCC(8;0.001)					p.R353H	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1133	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	353			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1058G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390632	0.95988	.	.	ENSG00000148400	ENST00000277541	D	0.87491	-2.26	5.12	5.12	0.69794	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.88998	0.6590	N	0.25957	0.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87618	0.2508	10	0.29301	T	0.29	.	17.1039	0.86657	0.0:1.0:0.0:0.0	.	353	P46531	NOTC1_HUMAN	H	353	ENSP00000277541:R353H	ENSP00000277541:R353H	R	-	2	0	NOTCH1	138532905	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	5.839000	0.69395	2.374000	0.81015	0.561000	0.74099	CGT		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		5	15	0	0	0	0.047766	0	5	15				
EYS	346007	broad.mit.edu	37	6	66044987	66044987	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:66044987C>T	ENST00000370621.3	-	11	2178	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	EYS_ENST00000503581.1_Missense_Mutation_p.R551Q|EYS_ENST00000370618.3_Missense_Mutation_p.R551Q|EYS_ENST00000370616.2_Missense_Mutation_p.R551Q|EYS_ENST00000342421.5_Missense_Mutation_p.R551Q|EYS_ENST00000393380.2_Missense_Mutation_p.R551Q			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	551			R -> L. {ECO:0000269|PubMed:20333770}.		detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACATAGATACCGATATTCCTG	0.358																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1651-1653)cGg>cAg		eyes shut homolog (Drosophila)							170.0	156.0	160.0					6																	66044987		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66044987C>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1652G>A	6.37:g.66044987C>T	ENSP00000359655:p.Arg551Gln					EYS_ENST00000393380.2_Missense_Mutation_p.R551Q|EYS_ENST00000370616.2_Missense_Mutation_p.R551Q|EYS_ENST00000370621.3_Missense_Mutation_p.R551Q|EYS_ENST00000342421.5_Missense_Mutation_p.R551Q|EYS_ENST00000370618.3_Missense_Mutation_p.R551Q	p.R551Q	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			11	2189	-			551		R -> L.			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1652G>A		.	.	.	.	.	.	.	.	.	.	c	3.435	-0.115362	0.06881	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	3.8	-6.39	0.01951	.	.	.	.	.	T	0.35828	0.0945	N	0.17345	0.48	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.17077	-1.0381	9	0.23891	T	0.37	.	5.8863	0.18884	0.6344:0.1514:0.0:0.2143	.	551;551;551	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	Q	551	ENSP00000424243:R551Q;ENSP00000359655:R551Q;ENSP00000359650:R551Q;ENSP00000377042:R551Q;ENSP00000341818:R551Q;ENSP00000359652:R551Q	ENSP00000341818:R551Q	R	-	2	0	EYS	66101708	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.028000	0.03589	-1.412000	0.02030	-1.447000	0.01057	CGG		0.358	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		9	47	0	0	0	0.058154	0	9	47				
ATP5S	27109	broad.mit.edu	37	14	50798919	50798919	+	Silent	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr14:50798919C>G	ENST00000358473.1	+	5	666	c.666C>G	c.(664-666)ctC>ctG	p.L222L	CDKL1_ENST00000216378.2_3'UTR|CDKL1_ENST00000395834.1_Intron			Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	0					ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		CTGCCATCCTCAAGTCTAGAT	0.483																																						ENST00000358473.1																			0				breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12						c.(664-666)ctC>ctG		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)																																				SO:0001819	synonymous_variant	27109				ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr14:50798919C>G	U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"""			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000358473.1:c.666C>G	14.37:g.50798919C>G						CDKL1_ENST00000395834.1_Intron|CDKL1_ENST00000216378.2_3'UTR	p.L222L			Q99766	ATP5S_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.0685)	5	666	+	all_epithelial(31;0.000636)|Breast(41;0.0102)		0					A8K1U3|D9N156|Q8WWX3|Q96F77	Silent	SNP	ENST00000358473.1	37	c.666C>G																																																																																					0.483	ATP5S-011	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000410765.1	NM_015684		4	71	0	0	0	0.009096	0	4	71				
RBL1	5933	broad.mit.edu	37	20	35695243	35695243	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr20:35695243C>G	ENST00000373664.3	-	6	796	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	RBL1_ENST00000344359.3_Missense_Mutation_p.E244Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	244					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CAGGGTGGCTCTTCAGAAGCC	0.388																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(730-732)Gag>Cag		retinoblastoma-like 1 (p107)							84.0	84.0	84.0					20																	35695243		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35695243C>G	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.730G>C	20.37:g.35695243C>G	ENSP00000362768:p.Glu244Gln					RBL1_ENST00000344359.3_Missense_Mutation_p.E244Q	p.E244Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			6	796	-		Myeloproliferative disorder(115;0.00878)	244					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.730G>C	CCDS13289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.48|13.48	2.249282|2.249282	0.39797|0.39797	.|.	.|.	ENSG00000080839|ENSG00000080839	ENST00000373664;ENST00000344359|ENST00000525052	D;D|.	0.93307|.	-2.97;-3.2|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.339609|.	0.31358|.	N|.	0.007789|.	T|T	0.54240|0.54240	0.1846|0.1846	L|L	0.34521|0.34521	1.04|1.04	0.32485|0.32485	N|N	0.540934|0.540934	B;B|.	0.34290|.	0.447;0.107|.	B;B|.	0.26202|.	0.067;0.058|.	T|T	0.58375|0.58375	-0.7647|-0.7647	10|5	0.25106|.	T|.	0.35|.	-29.9663|-29.9663	18.7075|18.7075	0.91644|0.91644	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	244;244|.	P28749-2;P28749|.	.;RBL1_HUMAN|.	Q|N	244|48	ENSP00000362768:E244Q;ENSP00000343646:E244Q|.	ENSP00000343646:E244Q|.	E|K	-|-	1|3	0|2	RBL1|RBL1	35128657|35128657	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.664000|0.664000	0.39144|0.39144	4.598000|4.598000	0.61069|0.61069	2.661000|2.661000	0.90470|0.90470	0.491000|0.491000	0.48974|0.48974	GAG|AAG		0.388	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		6	131	0	0	0	0.029380	0	6	131				
CENPE	1062	broad.mit.edu	37	4	104082361	104082361	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr4:104082361T>A	ENST00000265148.3	-	20	2102	c.2013A>T	c.(2011-2013)ttA>ttT	p.L671F	CENPE_ENST00000380026.3_Missense_Mutation_p.L646F	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	671					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GGCTTTGATATAACTGAATAT	0.323																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(2011-2013)ttA>ttT		centromere protein E, 312kDa							124.0	118.0	120.0					4																	104082361		2202	4298	6500	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104082361T>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2013A>T	4.37:g.104082361T>A	ENSP00000265148:p.Leu671Phe					CENPE_ENST00000380026.3_Missense_Mutation_p.L646F	p.L671F	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	20	2102	-			671					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.2013A>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326696	0.41197	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.70164	3.63;-0.46;3.63	4.9	-2.48	0.06423	.	.	.	.	.	T	0.61862	0.2381	L	0.58101	1.795	0.09310	N	1	P;D	0.54397	0.904;0.966	P;P	0.51355	0.667;0.641	T	0.53549	-0.8423	9	0.46703	T	0.11	.	0.8899	0.01252	0.2993:0.2842:0.1077:0.3088	.	646;671	Q02224-3;Q02224	.;CENPE_HUMAN	F	671;671;646;671	ENSP00000265148:L671F;ENSP00000369365:L646F;ENSP00000423981:L671F	ENSP00000265148:L671F	L	-	3	2	CENPE	104301810	0.002000	0.14202	0.009000	0.14445	0.828000	0.46876	-0.369000	0.07533	-0.351000	0.08249	-0.267000	0.10333	TTA		0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	32	0	0	0	0.014758	0	5	32				
BPTF	2186	broad.mit.edu	37	17	65889610	65889610	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:65889610A>G	ENST00000321892.4	+	8	2619	c.2558A>G	c.(2557-2559)aAt>aGt	p.N853S	BPTF_ENST00000306378.6_Missense_Mutation_p.N727S|BPTF_ENST00000335221.5_Missense_Mutation_p.N853S|BPTF_ENST00000424123.3_Missense_Mutation_p.N714S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	853	Interaction with MAZ.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTCTACCACAATCAATACTCC	0.393																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2557-2559)aAt>aGt		bromodomain PHD finger transcription factor							114.0	103.0	107.0					17																	65889610		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65889610A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2558A>G	17.37:g.65889610A>G	ENSP00000315454:p.Asn853Ser					BPTF_ENST00000424123.3_Missense_Mutation_p.N714S|BPTF_ENST00000306378.6_Missense_Mutation_p.N727S|BPTF_ENST00000335221.5_Missense_Mutation_p.N853S	p.N853S			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		8	2619	+	all_cancers(12;6e-11)		853			Interaction with MAZ.		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.2558A>G		.	.	.	.	.	.	.	.	.	.	A	17.90	3.501187	0.64298	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	D;D;D	0.84146	-1.7;-1.81;-1.74	5.53	5.53	0.82687	.	.	.	.	.	D	0.92841	0.7723	M	0.85041	2.73	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.993	D;D;P	0.75020	0.985;0.958;0.826	D	0.93931	0.7214	9	0.87932	D	0	-20.9791	15.97	0.80008	1.0:0.0:0.0:0.0	.	853;727;853	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	S	758;727;853;853;651	ENSP00000307208:N727S;ENSP00000334351:N853S;ENSP00000315454:N853S	ENSP00000307208:N727S	N	+	2	0	BPTF	63320072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.197000	0.94985	2.235000	0.73313	0.533000	0.62120	AAT		0.393	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	55	0	0	0	0.014758	0	5	55				
PABPC4	8761	broad.mit.edu	37	1	40036937	40036937	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:40036937T>C	ENST00000372857.3	-	3	1264	c.472A>G	c.(472-474)Atg>Gtg	p.M158V	PABPC4_ENST00000529216.1_5'Flank|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.M158V|PABPC4_ENST00000372858.3_Missense_Mutation_p.M158V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M158V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	158	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATGCCATTCATCTTCTCGATG	0.552																																						ENST00000372857.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(472-474)Atg>Gtg		poly(A) binding protein, cytoplasmic 4 (inducible form)							257.0	218.0	231.0					1																	40036937		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40036937T>C	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.472A>G	1.37:g.40036937T>C	ENSP00000361948:p.Met158Val					RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.M158V|PABPC4_ENST00000372858.3_Missense_Mutation_p.M158V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M158V	p.M158V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	1264	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	158			RRM 2.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.472A>G	CCDS438.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.305874	0.23736	.	.	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.85	5.85	0.93711	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.12646	0.0307	L	0.27944	0.81	0.80722	D	1	B;B;B	0.33494	0.414;0.081;0.047	B;B;B	0.35073	0.195;0.09;0.032	T	0.02404	-1.1164	10	0.02654	T	1	.	16.2961	0.82769	0.0:0.0:0.0:1.0	.	158;158;158	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	V	158	ENSP00000361953:M158V;ENSP00000361949:M158V;ENSP00000361948:M158V;ENSP00000361947:M158V	ENSP00000361947:M158V	M	-	1	0	PABPC4	39809524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.037000	0.88933	2.250000	0.74265	0.454000	0.30748	ATG		0.552	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		21	160	0	0	0	0.049695	0	21	160				
VPS52	6293	broad.mit.edu	37	6	33237326	33237326	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:33237326C>G	ENST00000445902.2	-	5	531	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000478934.1_5'UTR|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000474973.1_5'Flank	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	105					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCTCACTCTCTTGAATATCT	0.428																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(313-315)Gag>Cag		vacuolar protein sorting 52 homolog (S. cerevisiae)							119.0	112.0	115.0					6																	33237326		1511	2709	4220	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33237326C>G	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.313G>C	6.37:g.33237326C>G	ENSP00000409952:p.Glu105Gln					VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000478934.1_5'UTR	p.E105Q	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			5	531	-			105					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.313G>C	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895793	0.52121	.	.	ENSG00000223501	ENST00000445902;ENST00000418054	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	L	0.52011	1.625	0.80722	D	1	P;P	0.41498	0.752;0.752	B;B	0.40659	0.336;0.336	T	0.25433	-1.0132	9	0.16896	T	0.51	-23.3815	16.2534	0.82498	0.0:1.0:0.0:0.0	.	83;105	B4DS44;Q8N1B4	.;VPS52_HUMAN	Q	105;83	.	ENSP00000414785:E83Q	E	-	1	0	VPS52	33345304	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.127000	0.71642	2.719000	0.93026	0.573000	0.79308	GAG		0.428	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		6	88	0	0	0	0.029380	0	6	88				
HOXB2	3212	broad.mit.edu	37	17	46622170	46622170	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:46622170G>A	ENST00000330070.4	-	1	1271	c.104C>T	c.(103-105)tCa>tTa	p.S35L	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB2_ENST00000504772.3_5'Flank	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	35					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CTTGATTGATGAAGTTTGAAA	0.527																																						ENST00000330070.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(103-105)tCa>tTa		homeobox B2							53.0	62.0	59.0					17																	46622170		2203	4300	6503	SO:0001583	missense	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46622170G>A		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.104C>T	17.37:g.46622170G>A	ENSP00000331741:p.Ser35Leu					HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA	p.S35L	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			1	1271	-			35					P10913|P17485	Missense_Mutation	SNP	ENST00000330070.4	37	c.104C>T	CCDS11527.1	.	.	.	.	.	.	.	.	.	.	G	36	5.737267	0.96865	.	.	ENSG00000173917	ENST00000330070	D	0.93133	-3.17	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000004	D	0.95768	0.8623	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95695	0.8744	10	0.56958	D	0.05	.	17.0684	0.86565	0.0:0.0:1.0:0.0	.	35	P14652	HXB2_HUMAN	L	35	ENSP00000331741:S35L	ENSP00000331741:S35L	S	-	2	0	HOXB2	43977169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.104000	0.94239	2.629000	0.89072	0.650000	0.86243	TCA		0.527	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			13	86	0	0	0	0.013537	0	13	86				
KCNJ2	3759	broad.mit.edu	37	17	68172279	68172279	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:68172279A>G	ENST00000243457.3	+	2	1482	c.1099A>G	c.(1099-1101)Atc>Gtc	p.I367V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.I367V	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	367					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AAAGAAATATATCCTCTCAAA	0.413																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(1099-1101)Atc>Gtc		potassium inwardly-rectifying channel, subfamily J, member 2							113.0	119.0	117.0					17																	68172279		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68172279A>G	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.1099A>G	17.37:g.68172279A>G	ENSP00000243457:p.Ile367Val					KCNJ2_ENST00000535240.1_Missense_Mutation_p.I367V	p.I367V	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	1482	+	Breast(10;1.64e-08)		367					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.1099A>G	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.669411	0.29693	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.93659	-3.26;-3.26	6.07	6.07	0.98685	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.92580	0.7643	L	0.54323	1.7	0.50813	D	0.999898	B	0.18013	0.025	B	0.34346	0.18	D	0.88998	0.3419	9	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	367	P63252	IRK2_HUMAN	V	367	ENSP00000441848:I367V;ENSP00000243457:I367V	.	I	+	1	0	KCNJ2	65683874	1.000000	0.71417	0.969000	0.41365	0.964000	0.63967	7.576000	0.82467	2.326000	0.78906	0.533000	0.62120	ATC		0.413	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		20	123	0	0	0	0.055883	0	20	123				
MYCL	4610	broad.mit.edu	37	1	40366859	40366859	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:40366859C>A	ENST00000372816.2	-	1	695	c.248G>T	c.(247-249)gGc>gTc	p.G83V	RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000429311.1_Missense_Mutation_p.G83V|MYCL_ENST00000397332.2_Missense_Mutation_p.G113V|MYCL_ENST00000372815.1_Missense_Mutation_p.G113V			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	83						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTAGTTCCTGCCCCAGCCTTT	0.711																																						ENST00000397332.2																			0											c.(337-339)gGc>gTc		v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog							26.0	25.0	26.0					1																	40366859		2200	4293	6493	SO:0001583	missense	4610							g.chr1:40366859C>A		CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"""Basic helix-loop-helix proteins"""	7555	protein-coding gene	gene with protein product	"""l-myc protein"", ""myc-related gene from lung cancer"", ""oncogene lmyc"""	164850	"""v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"""	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.248G>T	1.37:g.40366859C>A	ENSP00000361903:p.Gly83Val					MYCL_ENST00000429311.1_Missense_Mutation_p.G83V|MYCL_ENST00000372815.1_Missense_Mutation_p.G113V|MYCL_ENST00000372816.2_Missense_Mutation_p.G83V	p.G113V	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2					2	462	-								A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Missense_Mutation	SNP	ENST00000372816.2	37	c.338G>T	CCDS30682.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250323	0.59212	.	.	ENSG00000116990	ENST00000397332;ENST00000372816;ENST00000372815;ENST00000429311;ENST00000450953	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	4.53	3.54	0.40534	Transcription regulator Myc, N-terminal (1);	0.312551	0.35646	N	0.003072	T	0.13670	0.0331	L	0.42245	1.32	0.58432	D	0.999992	P;P	0.39352	0.639;0.669	B;B	0.38106	0.134;0.265	T	0.02539	-1.1144	10	0.27785	T	0.31	-7.2912	8.9529	0.35801	0.2526:0.6138:0.1336:0.0	.	83;83	P12524-2;P12524	.;MYCL1_HUMAN	V	113;83;113;83;83	ENSP00000380494:G113V;ENSP00000361903:G83V;ENSP00000361902:G113V;ENSP00000389358:G83V;ENSP00000434375:G83V	ENSP00000361902:G113V	G	-	2	0	MYCL1	40139446	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	0.630000	0.24553	2.506000	0.84524	0.558000	0.71614	GGC		0.711	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277004.1	NM_001033082		5	28	1	0	0.00116845	0.021553	0.00153035	5	28				
POLQ	10721	broad.mit.edu	37	3	121206259	121206259	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:121206259A>T	ENST00000264233.5	-	16	5647	c.5519T>A	c.(5518-5520)tTc>tAc	p.F1840Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1840					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCCTTAATGAATGTTTGGAA	0.393								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(5518-5520)tTc>tAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							105.0	103.0	104.0					3																	121206259		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206259A>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5519T>A	3.37:g.121206259A>T	ENSP00000264233:p.Phe1840Tyr						p.F1840Y	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5647	-			1840					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.5519T>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558195	0.86231	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.64803	-0.12	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	M	0.72894	2.215	0.41281	D	0.986911	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.78285	-0.2263	10	0.41790	T	0.15	.	15.9039	0.79403	1.0:0.0:0.0:0.0	.	1840;1012	O75417;O75417-2	DPOLQ_HUMAN;.	Y	1463;1840;1976	ENSP00000264233:F1840Y	ENSP00000264233:F1840Y	F	-	2	0	POLQ	122688949	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	8.639000	0.91023	2.158000	0.67659	0.460000	0.39030	TTC		0.393	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		9	82	0	0	0	0.058154	0	9	82				
PAM	5066	broad.mit.edu	37	5	102296933	102296933	+	Splice_Site	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr5:102296933G>C	ENST00000438793.3	+	13	1632	c.1162G>C	c.(1162-1164)Ggt>Cgt	p.G388R	PAM_ENST00000274392.9_Splice_Site_p.G291R|PAM_ENST00000348126.2_Splice_Site_p.D388H|PAM_ENST00000304400.7_Splice_Site_p.G388R|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Splice_Site_p.G388R|PAM_ENST00000346918.2_Splice_Site_p.G388R	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	388	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GTTAGACCAGGGTATGTATGC	0.333																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.e13+1		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						101.0	108.0	106.0					5																	102296933		2203	4299	6502	SO:0001630	splice_region_variant	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102296933G>C	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1162+1G>C	5.37:g.102296933G>C						PAM_ENST00000348126.2_Splice_Site_p.D388_splice|PAM_ENST00000274392.9_Splice_Site_p.G291_splice|PAM_ENST00000455264.2_Splice_Site_p.G388_splice|PAM_ENST00000304400.7_Splice_Site_p.G388_splice|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Splice_Site_p.G388_splice	p.G388_splice	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	13	1632	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	388			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Splice_Site	SNP	ENST00000438793.3	37	c.1162_splice	CCDS54885.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	22.2|22.2|22.2	4.262377|4.262377|4.262377	0.80358|0.80358|0.80358	.|.|.	.|.|.	ENSG00000145730|ENSG00000145730|ENSG00000145730	ENST00000348126|ENST00000379799|ENST00000438793;ENST00000346918;ENST00000304400;ENST00000274392;ENST00000455264;ENST00000432578	T|.|T;T;T;T;T	0.49432|.|0.62639	0.78|.|0.88;0.76;0.88;0.01;0.77	5.4|5.4|5.4	5.4|5.4|5.4	0.78164|0.78164|0.78164	.|.|.	.|0.105255|0.105255	.|0.64402|0.64402	.|D|D	.|0.000003|0.000003	T|T|T	0.76615|0.76615|0.76615	0.4012|0.4012|0.4012	L|L|L	0.56769|0.56769|0.56769	1.78|1.78|1.78	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|D;D;D;D;D	0.76494|.|0.65815	0.999|.|0.995;0.991;0.995;0.985;0.995	D|.|D;P;D;D;D	0.77557|.|0.67382	0.99|.|0.951;0.894;0.951;0.923;0.951	T|T|T	0.77616|0.77616|0.77616	-0.2521|-0.2521|-0.2521	9|6|10	0.33141|.|0.66056	T|.|D	0.24|.|0.02	.|.|.	19.1469|19.1469|19.1469	0.93472|0.93472|0.93472	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	388|.|291;388;388;388;388	P19021-2|.|F8WE90;P19021;P19021-4;P19021-3;P19021-5	.|.|.;AMD_HUMAN;.;.;.	H|A|R	388|160|388;388;388;291;388;31	ENSP00000314638:D388H|.|ENSP00000396493:G388R;ENSP00000282992:G388R;ENSP00000306100:G388R;ENSP00000274392:G291R;ENSP00000403461:G388R	ENSP00000314638:D388H|.|ENSP00000274392:G291R	D|G|G	+|+|+	1|2|1	0|0|0	PAM|PAM|PAM	102324832|102324832|102324832	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.892000|0.892000|0.892000	0.51952|0.51952|0.51952	3.449000|3.449000|3.449000	0.52950|0.52950|0.52950	2.694000|2.694000|2.694000	0.91930|0.91930|0.91930	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAT|GGG|GGT		0.333	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919	Missense_Mutation	4	59	0	0	0	0.009096	0	4	59				
ACACA	31	broad.mit.edu	37	17	35545260	35545260	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:35545260T>C	ENST00000394406.2	-	39	4812	c.4622A>G	c.(4621-4623)gAt>gGt	p.D1541G	ACACA_ENST00000360679.3_Missense_Mutation_p.D1483G|ACACA_ENST00000335166.5_Missense_Mutation_p.D1463G|ACACA_ENST00000353139.5_Missense_Mutation_p.D1578G	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1541					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAGGCTGATATCCAAGTAATA	0.468																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(4732-4734)gAt>gGt		acetyl-CoA carboxylase alpha	Biotin(DB00121)						159.0	140.0	147.0					17																	35545260		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35545260T>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4622A>G	17.37:g.35545260T>C	ENSP00000377928:p.Asp1541Gly					ACACA_ENST00000394406.2_Missense_Mutation_p.D1541G|ACACA_ENST00000360679.3_Missense_Mutation_p.D1483G|ACACA_ENST00000335166.5_Missense_Mutation_p.D1463G	p.D1578G	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			39	5214	-		Breast(25;0.00157)|Ovarian(249;0.15)	1541					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.4733A>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225030	0.58668	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.49	5.49	0.81192	Acetyl-CoA carboxylase, central domain (1);	0.114571	0.64402	D	0.000007	T	0.58337	0.2115	M	0.76170	2.325	0.80722	D	1	P;P;B;B	0.47191	0.83;0.891;0.006;0.005	P;P;B;B	0.55713	0.486;0.782;0.02;0.012	T	0.56463	-0.7975	10	0.27785	T	0.31	-20.5075	15.2513	0.73549	0.0:0.0:0.0:1.0	.	289;1578;1541;1483	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	G	1578;1483;1541;1565;1463;289	ENSP00000344789:D1578G;ENSP00000353898:D1483G;ENSP00000377928:D1541G;ENSP00000335323:D1463G	ENSP00000335323:D1463G	D	-	2	0	ACACA	32619373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.993000	0.88291	2.069000	0.61940	0.533000	0.62120	GAT		0.468	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		3	46	0	0	0	0.004672	0	3	46				
DAB2IP	153090	broad.mit.edu	37	9	124522377	124522377	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:124522377C>T	ENST00000408936.3	+	6	1011	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R153W|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R249W			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	277	C2.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|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 ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCACCTGTACCGGGAGACCGA	0.612																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(829-831)Cgg>Tgg		DAB2 interacting protein							76.0	72.0	74.0					9																	124522377		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124522377C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.829C>T	9.37:g.124522377C>T	ENSP00000386183:p.Arg277Trp					DAB2IP_ENST00000309989.1_Missense_Mutation_p.R153W|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R249W	p.R277W			Q5VWQ8	DAB2P_HUMAN			6	1011	+			277			C2.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.829C>T		.	.	.	.	.	.	.	.	.	.	C	22.7	4.326896	0.81690	.	.	ENSG00000136848	ENST00000394340;ENST00000436835;ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T;T;T	0.79033	-1.23;-0.55;-0.55;-0.55;-0.55;-0.55	4.82	3.78	0.43462	.	0.155020	0.56097	D	0.000035	D	0.85383	0.5684	M	0.77486	2.375	0.52099	D	0.999947	D	0.71674	0.998	D	0.66716	0.946	D	0.86437	0.1764	10	0.87932	D	0	.	9.9852	0.41837	0.3986:0.6014:0.0:0.0	.	249	G3XA90	.	W	249;153;249;277;186;153	ENSP00000377872:R249W;ENSP00000409327:R153W;ENSP00000259371:R249W;ENSP00000386183:R277W;ENSP00000362887:R186W;ENSP00000310827:R153W	ENSP00000259371:R249W	R	+	1	2	DAB2IP	123562198	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.779000	0.62375	2.377000	0.81083	0.561000	0.74099	CGG		0.612	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		12	80	0	0	0	0.080935	0	12	80				
NBAS	51594	broad.mit.edu	37	2	15374713	15374713	+	Silent	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:15374713C>T	ENST00000281513.5	-	46	6127	c.6102G>A	c.(6100-6102)aaG>aaA	p.K2034K	NBAS_ENST00000441750.1_Silent_p.K1914K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2034					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCACTATATCCTTGGGTGAGA	0.443																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(6100-6102)aaG>aaA		neuroblastoma amplified sequence							104.0	97.0	99.0					2																	15374713		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15374713C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6102G>A	2.37:g.15374713C>T						NBAS_ENST00000441750.1_Silent_p.K1914K	p.K2034K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			46	6127	-			2034					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.6102G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	9.683	1.149943	0.21371	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.79	4.91	0.64330	.	.	.	.	.	T	0.62171	0.2406	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58713	-0.7588	4	.	.	.	.	11.1119	0.48237	0.0:0.8358:0.0:0.1642	.	.	.	.	K	1082	.	.	R	-	2	0	NBAS	15292164	0.825000	0.29262	1.000000	0.80357	0.990000	0.78478	0.579000	0.23788	2.744000	0.94065	0.650000	0.86243	AGG		0.443	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		5	69	0	0	0	0.014758	0	5	69				
ABTB2	25841	broad.mit.edu	37	11	34182611	34182611	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr11:34182611G>A	ENST00000435224.2	-	11	2660	c.2236C>T	c.(2236-2238)Cac>Tac	p.H746Y	ABTB2_ENST00000298992.2_Missense_Mutation_p.H560Y	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	746					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ATCCAGATGTGCAGCTTCCAG	0.622																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2236-2238)Cac>Tac		ankyrin repeat and BTB (POZ) domain containing 2							54.0	44.0	48.0					11																	34182611		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34182611G>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2236C>T	11.37:g.34182611G>A	ENSP00000410157:p.His746Tyr					ABTB2_ENST00000298992.2_Missense_Mutation_p.H560Y	p.H746Y	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			11	2660	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	560					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2236C>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641931	0.87859	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.66638	-0.2;-0.22	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	M	0.72353	2.195	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.82291	-0.0530	10	0.52906	T	0.07	-10.0369	18.6197	0.91317	0.0:0.0:1.0:0.0	.	560	Q8N961	ABTB2_HUMAN	Y	746;560	ENSP00000410157:H746Y;ENSP00000298992:H560Y	ENSP00000298992:H560Y	H	-	1	0	ABTB2	34139187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.401000	0.81631	0.561000	0.74099	CAC		0.622	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		4	17	0	0	0	0.021553	0	4	17				
PFKL	5211	broad.mit.edu	37	21	45744411	45744411	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr21:45744411A>G	ENST00000349048.4	+	17	1743	c.1688A>G	c.(1687-1689)aAg>aGg	p.K563R	PFKL_ENST00000403390.1_Missense_Mutation_p.K610R	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	563	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TCGGGGACCAAGCGCCGTGTG	0.662																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1828-1830)aAg>aGg		phosphofructokinase, liver							77.0	70.0	73.0					21																	45744411		2202	4300	6502	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45744411A>G		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1688A>G	21.37:g.45744411A>G	ENSP00000269848:p.Lys563Arg					PFKL_ENST00000349048.4_Missense_Mutation_p.K563R	p.K610R			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	18	1829	+			563					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.1829A>G	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	A	10.48	1.361946	0.24684	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.76448	-1.02;-1.02	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	N	0.25992	0.78	0.80722	D	1	B;P	0.47409	0.021;0.895	B;P	0.56563	0.057;0.801	T	0.71724	-0.4506	10	0.24483	T	0.36	-47.4371	12.1046	0.53805	1.0:0.0:0.0:0.0	.	563;610	P17858;P17858-2	K6PL_HUMAN;.	R	563;356;610	ENSP00000269848:K563R;ENSP00000384038:K610R	ENSP00000269848:K563R	K	+	2	0	PFKL	44568839	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	8.826000	0.92034	1.511000	0.48818	0.383000	0.25322	AAG		0.662	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			13	51	0	0	0	0.013537	0	13	51				
COPA	1314	broad.mit.edu	37	1	160276272	160276272	+	Silent	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:160276272C>T	ENST00000241704.7	-	15	1543	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	COPA_ENST00000368069.3_Silent_p.K438K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	438					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTTCAGATTCTTGATCAGAA	0.413																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(1312-1314)aaG>aaA		coatomer protein complex, subunit alpha							160.0	149.0	153.0					1																	160276272		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160276272C>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1314G>A	1.37:g.160276272C>T						COPA_ENST00000368069.3_Silent_p.K438K	p.K438K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		15	1543	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		438					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.1314G>A	CCDS1202.1																																																																																				0.413	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		7	59	0	0	0	0.038147	0	7	59				
MRI1	84245	broad.mit.edu	37	19	13879659	13879659	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:13879659G>A	ENST00000040663.6	+	5	786	c.746G>A	c.(745-747)cGc>cAc	p.R249H	MRI1_ENST00000319545.8_Missense_Mutation_p.R202H	NM_001031727.2	NP_001026897.1			methylthioribose-1-phosphate isomerase 1											breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GGAGCTGACCGCGTGGTTGCC	0.652																																						ENST00000319545.8																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(604-606)cGc>cAc		methylthioribose-1-phosphate isomerase 1							60.0	49.0	53.0					19																	13879659		2203	4300	6503	SO:0001583	missense	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13879659G>A		CCDS12297.1, CCDS32923.1	19p13.13	2013-05-29	2013-05-29			ENSG00000037757	5.3.1.23		28469	protein-coding gene	gene with protein product	"""mediator of RhoA-dependent invasion"", ""S-methyl-5-thioribose-1-phosphate isomerase 1"""	615105	"""methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)"""			15215245, 19620624, 23124037	Standard	XR_244089		Approved	MGC3207, Ypr118w, mtnA, MRDI	uc002mxe.3	Q9BV20		ENST00000040663.6:c.746G>A	19.37:g.13879659G>A	ENSP00000040663:p.Arg249His					MRI1_ENST00000040663.6_Missense_Mutation_p.R249H	p.R202H	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN			5	662	+			249						Missense_Mutation	SNP	ENST00000040663.6	37	c.605G>A	CCDS32923.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974530	0.92919	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	T;T	0.35973	1.28;1.28	5.69	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	H	0.98594	4.275	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.82305	-0.0523	10	0.87932	D	0	-8.877	11.6491	0.51277	0.0902:0.0:0.9098:0.0	.	202;249	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	H	249;202	ENSP00000040663:R249H;ENSP00000314871:R202H	ENSP00000040663:R249H	R	+	2	0	MRI1	13740659	1.000000	0.71417	0.990000	0.47175	0.944000	0.59088	7.051000	0.76627	1.344000	0.45657	0.491000	0.48974	CGC		0.652	MRI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453424.1	NM_032285		6	33	0	0	0	0.029380	0	6	33				
RDH14	57665	broad.mit.edu	37	2	18736913	18736913	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:18736913G>A	ENST00000381249.3	-	2	662	c.555C>T	c.(553-555)agC>agT	p.S185S	RDH14_ENST00000468071.1_5'UTR|NT5C1B-RDH14_ENST00000532967.1_3'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	185					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	CCACAATCCTGCTGGGAGCTG	0.408																																						ENST00000381249.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(553-555)agC>agT		retinol dehydrogenase 14 (all-trans/9-cis/11-cis)							60.0	66.0	64.0					2																	18736913		2203	4300	6503	SO:0001819	synonymous_variant	57665							g.chr2:18736913G>A	AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19979	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 4"""		"""retinol dehydrogenase 14 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.555C>T	2.37:g.18736913G>A						RDH14_ENST00000468071.1_5'UTR|NT5C1B-RDH14_ENST00000532967.1_3'UTR	p.S185S	NM_020905.3	NP_065956.1					2	662	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)								Silent	SNP	ENST00000381249.3	37	c.555C>T	CCDS1693.1																																																																																				0.408	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1			6	68	0	0	0	0.021553	0	6	68				
TSPAN14	81619	broad.mit.edu	37	10	82264528	82264528	+	Silent	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr10:82264528C>T	ENST00000429989.3	+	3	349	c.126C>T	c.(124-126)agC>agT	p.S42S	TSPAN14_ENST00000341863.6_Silent_p.S42S|TSPAN14_ENST00000372164.3_Intron|TSPAN14_ENST00000372156.1_Silent_p.S42S|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372158.1_Silent_p.S42S	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	42					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GGGCATGGAGCGAAAAGGTAG	0.517																																						ENST00000429989.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(124-126)agC>agT		tetraspanin 14							203.0	175.0	184.0					10																	82264528		2203	4300	6503	SO:0001819	synonymous_variant	81619					integral to membrane		g.chr10:82264528C>T	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.126C>T	10.37:g.82264528C>T						TSPAN14_ENST00000341863.6_Silent_p.S42S|TSPAN14_ENST00000372156.1_Silent_p.S42S|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372158.1_Silent_p.S42S|TSPAN14_ENST00000372164.3_Intron	p.S42S	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		3	349	+			42					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	ENST00000429989.3	37	c.126C>T	CCDS7369.1	.	.	.	.	.	.	.	.	.	.	C	36	5.807447	0.96967	.	.	ENSG00000108219	ENST00000372157	.	.	.	5.54	-2.74	0.05932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.7549	11.7237	0.51698	0.0:0.3142:0.0:0.6858	.	.	.	.	X	3	.	ENSP00000361230:R3X	R	+	1	2	TSPAN14	82254508	0.998000	0.40836	0.989000	0.46669	0.992000	0.81027	0.447000	0.21710	-0.393000	0.07739	0.561000	0.74099	CGA		0.517	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		16	86	0	0	0	0.043863	0	16	86				
KCNJ3	3760	broad.mit.edu	37	2	155566303	155566303	+	Silent	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:155566303C>T	ENST00000295101.2	+	2	1368	c.891C>T	c.(889-891)gtC>gtT	p.V297V	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	297					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGATTGTCGTCATCCTAGAAG	0.413																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(889-891)gtC>gtT		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						95.0	87.0	90.0					2																	155566303		2203	4300	6503	SO:0001819	synonymous_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155566303C>T	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.891C>T	2.37:g.155566303C>T						KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	p.V297V	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			2	1368	+			297					B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	c.891C>T	CCDS2200.1																																																																																				0.413	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		4	55	0	0	0	0.009096	0	4	55				
TRIP12	9320	broad.mit.edu	37	2	230650483	230650483	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:230650483T>A	ENST00000283943.5	-	33	5037	c.4859A>T	c.(4858-4860)tAt>tTt	p.Y1620F	TRIP12_ENST00000389045.3_Missense_Mutation_p.Y1350F|TRIP12_ENST00000389044.4_Missense_Mutation_p.Y1668F	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1620					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTCATTTTCATACTGGATTTC	0.438																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4858-4860)tAt>tTt		thyroid hormone receptor interactor 12							115.0	117.0	116.0					2																	230650483		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230650483T>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4859A>T	2.37:g.230650483T>A	ENSP00000283943:p.Tyr1620Phe					TRIP12_ENST00000389044.4_Missense_Mutation_p.Y1668F|TRIP12_ENST00000389045.3_Missense_Mutation_p.Y1350F	p.Y1620F	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	33	5037	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1620					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.4859A>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.759664	0.89932	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.29397	1.57;1.57;1.57	5.66	5.66	0.87406	HECT (3);	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	L	0.39147	1.195	0.80722	D	1	P;D;P	0.58268	0.956;0.982;0.956	P;D;P	0.67548	0.899;0.952;0.899	T	0.44590	-0.9318	10	0.72032	D	0.01	.	15.8971	0.79344	0.0:0.0:0.0:1.0	.	1350;1668;1620	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	F	1620;1350;1668	ENSP00000283943:Y1620F;ENSP00000373697:Y1350F;ENSP00000373696:Y1668F	ENSP00000283943:Y1620F	Y	-	2	0	TRIP12	230358727	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.614000	0.82996	2.150000	0.67090	0.477000	0.44152	TAT		0.438	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		7	89	0	0	0	0.029380	0	7	89				
FILIP1	27145	broad.mit.edu	37	6	76022996	76022996	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:76022996G>A	ENST00000237172.7	-	5	2882	c.2552C>T	c.(2551-2553)tCt>tTt	p.S851F	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S752F|FILIP1_ENST00000393004.2_Missense_Mutation_p.S851F	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	851										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTCTAGAACAGAAGATCTTTC	0.453																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2551-2553)tCt>tTt		filamin A interacting protein 1							112.0	123.0	119.0					6																	76022996		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022996G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2552C>T	6.37:g.76022996G>A	ENSP00000237172:p.Ser851Phe					FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S851F|FILIP1_ENST00000370020.1_Missense_Mutation_p.S752F	p.S851F			Q7Z7B0	FLIP1_HUMAN			5	2773	-			851					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2552C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427435	0.43122	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20069	2.1;2.1;2.1	5.66	5.66	0.87406	.	0.175713	0.51477	D	0.000086	T	0.17619	0.0423	N	0.24115	0.695	0.45415	D	0.998397	D;P;P	0.56521	0.976;0.835;0.897	P;P;P	0.51016	0.656;0.514;0.637	T	0.01757	-1.1280	10	0.87932	D	0	-10.1735	19.7468	0.96255	0.0:0.0:1.0:0.0	.	851;851;851	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	851;851;752	ENSP00000376728:S851F;ENSP00000237172:S851F;ENSP00000359037:S752F	ENSP00000237172:S851F	S	-	2	0	FILIP1	76079716	1.000000	0.71417	0.973000	0.42090	0.625000	0.37756	5.431000	0.66507	2.678000	0.91216	0.563000	0.77884	TCT		0.453	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		9	214	0	0	0	0.047766	0	9	214				
PAK7	57144	broad.mit.edu	37	20	9520158	9520158	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr20:9520158C>A	ENST00000378429.3	-	11	2657	c.2111G>T	c.(2110-2112)gGt>gTt	p.G704V	PAK7_ENST00000378423.1_Missense_Mutation_p.G704V|PAK7_ENST00000353224.5_Missense_Mutation_p.G704V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	704			G -> S (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGACGGTGGACCTGCTAGTTT	0.512																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(2110-2112)gGt>gTt		p21 protein (Cdc42/Rac)-activated kinase 7							243.0	221.0	228.0					20																	9520158		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9520158C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.2111G>T	20.37:g.9520158C>A	ENSP00000367686:p.Gly704Val					PAK7_ENST00000378423.1_Missense_Mutation_p.G704V|PAK7_ENST00000353224.5_Missense_Mutation_p.G704V	p.G704V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		11	2657	-			704		G -> S (in a metastatic melanoma sample; somatic mutation).			A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.2111G>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003566	0.93287	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.74526	-0.85;-0.85;-0.85	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	L	0.46670	1.46	0.80722	D	1	P;P	0.44986	0.847;0.847	P;P	0.49140	0.601;0.601	T	0.74365	-0.3689	9	.	.	.	.	19.3557	0.94412	0.0:1.0:0.0:0.0	.	704;704	B0AZM9;Q9P286	.;PAK7_HUMAN	V	704;704;704;565	ENSP00000367686:G704V;ENSP00000322957:G704V;ENSP00000367679:G704V	.	G	-	2	0	PAK7	9468158	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	7.818000	0.86416	2.597000	0.87782	0.655000	0.94253	GGT		0.512	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			23	186	1	0	3.10358e-05	0.069288	4.17573e-05	23	186				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	24	0	0	0	0.004672	0	3	24				
COL15A1	1306	broad.mit.edu	37	9	101748163	101748163	+	Silent	SNP	G	G	A	rs201085523		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:101748163G>A	ENST00000375001.3	+	3	840	c.417G>A	c.(415-417)acG>acA	p.T139T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	139	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCTACTACACGGAGCCAGGCT	0.607																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(415-417)acG>acA		collagen, type XV, alpha 1							101.0	94.0	97.0					9																	101748163		2203	4300	6503	SO:0001819	synonymous_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748163G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.417G>A	9.37:g.101748163G>A							p.T139T	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			3	840	+		Acute lymphoblastic leukemia(62;0.0562)	139			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	c.417G>A	CCDS35081.1																																																																																				0.607	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		29	87	0	0	0	0.030593	0	29	87				
DLGAP1	9229	broad.mit.edu	37	18	3879519	3879519	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr18:3879519T>G	ENST00000315677.3	-	4	1145	c.550A>C	c.(550-552)Agc>Cgc	p.S184R	DLGAP1_ENST00000584874.1_Missense_Mutation_p.S184R|DLGAP1_ENST00000581527.1_Missense_Mutation_p.S184R|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.S184R	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	184					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGCTCCTTGCTCTTGCTGCGT	0.697																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(550-552)Agc>Cgc		discs, large (Drosophila) homolog-associated protein 1							54.0	64.0	61.0					18																	3879519		2201	4298	6499	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879519T>G	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.550A>C	18.37:g.3879519T>G	ENSP00000316377:p.Ser184Arg					DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.S184R|DLGAP1_ENST00000581527.1_Missense_Mutation_p.S184R|DLGAP1_ENST00000584874.1_Missense_Mutation_p.S184R	p.S184R	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	1145	-		Colorectal(8;0.0257)	184					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.550A>C	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885351	0.91814	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.15718	2.4;2.4	5.75	5.75	0.90469	.	0.079197	0.85682	D	0.000000	T	0.46210	0.1381	M	0.85462	2.755	0.80722	D	1	D;D;D	0.67145	0.986;0.996;0.991	P;P;D	0.65773	0.738;0.866;0.938	T	0.53034	-0.8495	10	0.87932	D	0	-24.092	16.0519	0.80769	0.0:0.0:0.0:1.0	.	184;184;184	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	R	184	ENSP00000316377:S184R;ENSP00000445973:S184R	ENSP00000316377:S184R	S	-	1	0	DLGAP1	3869519	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.916000	0.87491	2.196000	0.70406	0.533000	0.62120	AGC		0.697	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			12	120	0	0	0	0.013537	0	12	120				
LGI2	55203	broad.mit.edu	37	4	25005706	25005706	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr4:25005706G>A	ENST00000382114.4	-	8	1190	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	335						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ACGTCTCGTCGTCGATCTGAA	0.443																																						ENST00000382114.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1003-1005)gaC>gaT		leucine-rich repeat LGI family, member 2							137.0	137.0	137.0					4																	25005706		2203	4300	6503	SO:0001819	synonymous_variant	55203					extracellular region		g.chr4:25005706G>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1005C>T	4.37:g.25005706G>A							p.D335D	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1190	-		Breast(46;0.173)	335					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	c.1005C>T	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	G	5.135	0.210534	0.09757	.	.	ENSG00000153012	ENST00000282970	.	.	.	5.55	-3.55	0.04639	.	.	.	.	.	T	0.54565	0.1866	.	.	.	0.40639	D	0.981925	.	.	.	.	.	.	T	0.57814	-0.7746	5	0.87932	D	0	-10.7437	4.0158	0.09644	0.1216:0.3733:0.2897:0.2154	.	.	.	.	M	9	.	ENSP00000282970:T9M	T	-	2	0	LGI2	24614804	0.000000	0.05858	0.857000	0.33713	0.984000	0.73092	-1.673000	0.01951	-0.751000	0.04734	-0.312000	0.09012	ACG		0.443	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			14	81	0	0	0	0.020292	0	14	81				
HDX	139324	broad.mit.edu	37	X	83724381	83724381	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:83724381G>C	ENST00000297977.5	-	3	461	c.350C>G	c.(349-351)tCa>tGa	p.S117*	HDX_ENST00000506585.2_Nonsense_Mutation_p.S59*|HDX_ENST00000373177.2_Nonsense_Mutation_p.S117*	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	117						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTGCCTACTTGATGAACTGGC	0.388																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(349-351)tCa>tGa		highly divergent homeobox							225.0	190.0	202.0					X																	83724381		2203	4300	6503	SO:0001587	stop_gained	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724381G>C	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.350C>G	X.37:g.83724381G>C	ENSP00000297977:p.Ser117*					HDX_ENST00000373177.2_Nonsense_Mutation_p.S117*|HDX_ENST00000506585.2_Nonsense_Mutation_p.S59*	p.S117*	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	461	-			117					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Nonsense_Mutation	SNP	ENST00000297977.5	37	c.350C>G	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896644	0.72639	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	.	.	.	4.75	2.98	0.34508	.	0.505033	0.19335	N	0.116813	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-11.4759	8.0679	0.30672	0.2573:0.0:0.7427:0.0	.	.	.	.	X	117;59;117;59	.	ENSP00000297977:S117X	S	-	2	0	HDX	83611037	1.000000	0.71417	0.992000	0.48379	0.525000	0.34531	2.150000	0.42254	0.535000	0.28714	0.513000	0.50165	TCA		0.388	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		3	146	0	0	0	0.004672	0	3	146				
PRKDC	5591	broad.mit.edu	37	8	48815268	48815268	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr8:48815268T>C	ENST00000314191.2	-	27	3186	c.3130A>G	c.(3130-3132)Ata>Gta	p.I1044V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I1044V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1044					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)	TGTGGTGTTATTTGCTTAATG	0.433								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.(3130-3132)Ata>Gta	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							163.0	151.0	155.0					8																	48815268		1921	4124	6045	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.chr8:48815268T>C		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.3130A>G	8.37:g.48815268T>C	ENSP00000313420:p.Ile1044Val					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I1044V	p.I1044V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			27	3186	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1044					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.3130A>G		.	.	.	.	.	.	.	.	.	.	T	15.82	2.946968	0.53186	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.63744	-0.06;-0.06	4.86	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	0.060109	0.64402	D	0.000004	T	0.54679	0.1873	.	.	.	0.22571	N	0.998973	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.54410	-0.8298	9	0.72032	D	0.01	.	14.7285	0.69362	0.0:0.0:0.0:1.0	.	1044;1044;1044	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	V	1044	ENSP00000313420:I1044V;ENSP00000345182:I1044V	ENSP00000313420:I1044V	I	-	1	0	PRKDC	48977821	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.651000	0.83577	1.937000	0.56155	0.460000	0.39030	ATA		0.433	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	52	0	0	0	0.004672	0	3	52				
DNAH11	8701	broad.mit.edu	37	7	21721264	21721264	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr7:21721264G>A	ENST00000409508.3	+	31	5460	c.5429G>A	c.(5428-5430)aGa>aAa	p.R1810K	DNAH11_ENST00000328843.6_Missense_Mutation_p.R1815K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1815	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCCATGCCAGAGACGTGGTG	0.388									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(5443-5445)aGa>aAa		dynein, axonemal, heavy chain 11							146.0	140.0	142.0					7																	21721264		1898	4129	6027	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21721264G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5429G>A	7.37:g.21721264G>A	ENSP00000475939:p.Arg1810Lys					DNAH11_ENST00000409508.3_Missense_Mutation_p.R1810K	p.R1815K			Q96DT5	DYH11_HUMAN			31	5475	+			1815			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5444G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.343883	0.95807	.	.	ENSG00000105877	ENST00000328843	T	0.60548	0.18	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	.	.	.	0.53688	D	0.999978	D	0.71674	0.998	D	0.74674	0.984	T	0.78450	-0.2199	9	0.52906	T	0.07	.	18.7612	0.91851	0.0:0.0:1.0:0.0	.	1815	Q96DT5	DYH11_HUMAN	K	1815	ENSP00000330671:R1815K	ENSP00000330671:R1815K	R	+	2	0	DNAH11	21687789	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.255000	0.95524	2.579000	0.87056	0.460000	0.39030	AGA		0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		11	118	0	0	0	0.080935	0	11	118				
WNK3	65267	broad.mit.edu	37	X	54324751	54324751	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:54324751C>G	ENST00000375159.2	-	6	1254	c.1255G>C	c.(1255-1257)Gat>Cat	p.D419H	WNK3_ENST00000354646.2_Missense_Mutation_p.D419H|WNK3_ENST00000375169.3_Missense_Mutation_p.D419H			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	419					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GAGCAATCATCTTCTTCTGCT	0.363																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1255-1257)Gat>Cat		WNK lysine deficient protein kinase 3							135.0	119.0	124.0					X																	54324751		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54324751C>G	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1255G>C	X.37:g.54324751C>G	ENSP00000364301:p.Asp419His					WNK3_ENST00000375159.2_Missense_Mutation_p.D419H|WNK3_ENST00000375169.3_Missense_Mutation_p.D419H	p.D419H	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			7	1693	-			419					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.1255G>C	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257329	0.80246	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.74737	-0.85;-0.87;-0.87	4.93	4.93	0.64822	.	0.267021	0.26231	N	0.025570	D	0.86632	0.5979	M	0.82056	2.57	0.49299	D	0.999771	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.88677	0.3199	10	0.72032	D	0.01	-2.6428	16.0929	0.81102	0.0:1.0:0.0:0.0	.	419;419	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	H	419	ENSP00000364312:D419H;ENSP00000346667:D419H;ENSP00000364301:D419H	ENSP00000346667:D419H	D	-	1	0	WNK3	54341476	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.999000	0.70665	2.049000	0.60858	0.513000	0.50165	GAT		0.363	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		6	48	0	0	0	0.021553	0	6	48				
PPFIA3	8541	broad.mit.edu	37	19	49631641	49631641	+	Silent	SNP	G	G	A	rs199685708		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:49631641G>A	ENST00000334186.4	+	3	607	c.258G>A	c.(256-258)acG>acA	p.T86T	PPFIA3_ENST00000602351.1_Silent_p.T86T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	86					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CAGCTCTGACGAAGGAGCTGA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		10628	0.001		0.0	False		,,,				2504	0.0					ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(256-258)acG>acA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							88.0	81.0	83.0					19																	49631641		2203	4300	6503	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49631641G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.258G>A	19.37:g.49631641G>A						PPFIA3_ENST00000602351.1_Silent_p.T86T	p.T86T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	3	607	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	86					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.258G>A	CCDS12758.1																																																																																				0.547	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		7	73	0	0	0	0.058154	0	7	73				
FAM120AOS	158293	broad.mit.edu	37	9	96214605	96214605	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:96214605C>G	ENST00000375412.5	-	1	1269	c.387G>C	c.(385-387)caG>caC	p.Q129H	FAM120A_ENST00000333936.5_Silent_p.V136V|FAM120AOS_ENST00000479094.1_5'Flank|FAM120A_ENST00000340893.4_Silent_p.V136V|FAM120AOS_ENST00000423591.1_5'Flank|FAM120A_ENST00000375389.3_Silent_p.V136V|FAM120A_ENST00000277165.6_Silent_p.V136V	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	129										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						CGCCAAAGGTCTGGTTCCTGC	0.701																																						ENST00000375412.5																			0				kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(385-387)caG>caC		family with sequence similarity 120A opposite strand							21.0	25.0	23.0					9																	96214605		2183	4271	6454	SO:0001583	missense	158293							g.chr9:96214605C>G	AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 10 opposite strand"""	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.387G>C	9.37:g.96214605C>G	ENSP00000364561:p.Gln129His					FAM120A_ENST00000340893.4_Silent_p.V136V|FAM120A_ENST00000277165.6_Silent_p.V136V|FAM120A_ENST00000333936.5_Silent_p.V136V|FAM120A_ENST00000375389.3_Silent_p.V136V	p.Q129H	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN			1	1269	-			129					A6NN20	Missense_Mutation	SNP	ENST00000375412.5	37	c.387G>C	CCDS6705.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299359	0.40694	.	.	ENSG00000188938	ENST00000375412	T	0.56941	0.43	3.98	3.98	0.46160	.	.	.	.	.	T	0.42698	0.1214	N	0.08118	0	0.80722	D	1	P	0.40332	0.713	P	0.46629	0.522	T	0.55535	-0.8126	9	0.87932	D	0	.	15.415	0.74960	0.0:1.0:0.0:0.0	.	129	Q5T036	F120S_HUMAN	H	129	ENSP00000364561:Q129H	ENSP00000364561:Q129H	Q	-	3	2	FAM120AOS	95254426	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.398000	0.52579	1.935000	0.56089	0.561000	0.74099	CAG		0.701	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053154.1			4	29	0	0	0	0.014758	0	4	29				
RNF157	114804	broad.mit.edu	37	17	74161588	74161588	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:74161588C>G	ENST00000269391.6	-	7	799	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	RNF157_ENST00000319945.6_Missense_Mutation_p.E223Q	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	223							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CTCACCTTCTCAAAAGTACCC	0.483																																					GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(667-669)Gag>Cag		ring finger protein 157							188.0	173.0	178.0					17																	74161588		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74161588C>G	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.667G>C	17.37:g.74161588C>G	ENSP00000269391:p.Glu223Gln					RNF157_ENST00000319945.6_Missense_Mutation_p.E223Q	p.E223Q	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		7	799	-			223					Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.667G>C	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662801	0.88251	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.29397	1.57;1.62	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.993	T	0.68538	-0.5382	10	0.59425	D	0.04	-14.0447	19.2389	0.93873	0.0:1.0:0.0:0.0	.	223;223	Q96PX1-2;Q96PX1	.;RN157_HUMAN	Q	223;223;185	ENSP00000269391:E223Q;ENSP00000321837:E223Q	ENSP00000269391:E223Q	E	-	1	0	RNF157	71673183	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	7.271000	0.78506	2.596000	0.87737	0.655000	0.94253	GAG		0.483	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		12	144	0	0	0	0.080935	0	12	144				
KRT6A	3853	broad.mit.edu	37	12	52886867	52886867	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr12:52886867C>T	ENST00000330722.6	-	1	174	c.106G>A	c.(106-108)Gtc>Atc	p.V36I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	36	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GACACGGAGACGCTGCTGAAG	0.667																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(106-108)Gtc>Atc		keratin 6A																																				SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52886867C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.106G>A	12.37:g.52886867C>T	ENSP00000369317:p.Val36Ile						p.V36I	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	174	-			36			Head.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.106G>A	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997270	0.35226	.	.	ENSG00000205420	ENST00000330722	T	0.28454	1.61	5.24	-1.38	0.09027	.	0.369472	0.22765	N	0.055911	T	0.19525	0.0469	L	0.53249	1.67	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12734	-1.0536	10	0.32370	T	0.25	.	0.9045	0.01281	0.2356:0.3727:0.115:0.2767	.	36	P02538	K2C6A_HUMAN	I	36	ENSP00000369317:V36I	ENSP00000369317:V36I	V	-	1	0	KRT6A	51173134	0.000000	0.05858	0.047000	0.18901	0.880000	0.50808	-0.866000	0.04245	-0.143000	0.11334	-0.286000	0.09958	GTC		0.667	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		5	105	0	0	0	0.021553	0	5	105				
DMD	1756	broad.mit.edu	37	X	31792157	31792157	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:31792157G>A	ENST00000357033.4	-	51	7668	c.7462C>T	c.(7462-7464)Ctg>Ttg	p.L2488L	DMD_ENST00000359836.1_Silent_p.L28L|DMD_ENST00000378677.2_Silent_p.L2484L|DMD_ENST00000474231.1_Silent_p.L28L|DMD_ENST00000378707.3_Silent_p.L28L|DMD_ENST00000343523.2_Silent_p.L28L|DMD_ENST00000541735.1_Silent_p.L28L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2488					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGATCAAGCAGAGAAAGCCAG	0.438																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(7462-7464)Ctg>Ttg		dystrophin							109.0	98.0	102.0					X																	31792157		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31792157G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7462C>T	X.37:g.31792157G>A						DMD_ENST00000474231.1_Silent_p.L28L|DMD_ENST00000359836.1_Silent_p.L28L|DMD_ENST00000378677.2_Silent_p.L2484L|DMD_ENST00000541735.1_Silent_p.L28L|DMD_ENST00000378707.3_Silent_p.L28L|DMD_ENST00000343523.2_Silent_p.L28L	p.L2488L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			51	7668	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2488					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.7462C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	9.144	1.014611	0.19355	.	.	ENSG00000198947	ENST00000465285	T	0.52754	0.65	5.08	4.08	0.47627	.	.	.	.	.	T	0.52533	0.1740	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49716	-0.8910	5	.	.	.	.	11.2289	0.48901	0.1353:0.0:0.8647:0.0	.	.	.	.	F	216	ENSP00000420046:S216F	.	S	-	2	0	DMD	31702078	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.066000	0.41452	2.096000	0.63516	0.594000	0.82650	TCT		0.438	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		10	81	0	0	0	0.058154	0	10	81				
SIDT2	51092	broad.mit.edu	37	11	117056884	117056884	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr11:117056884A>G	ENST00000324225.4	+	9	1438	c.907A>G	c.(907-909)Ata>Gta	p.I303V	SIDT2_ENST00000431081.2_Missense_Mutation_p.I303V	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	303					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTGCCTGGGTATATTTCTCTC	0.557																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(907-909)Ata>Gta		SID1 transmembrane family, member 2							173.0	155.0	161.0					11																	117056884		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117056884A>G	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.907A>G	11.37:g.117056884A>G	ENSP00000314023:p.Ile303Val					SIDT2_ENST00000431081.2_Missense_Mutation_p.I303V	p.I303V	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	9	1438	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	303					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.907A>G	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048422	0.36181	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000524842	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.16	5.16	0.70880	.	0.057470	0.64402	D	0.000002	T	0.12860	0.0312	N	0.20986	0.625	0.48762	D	0.999708	B;B;B;B	0.14012	0.007;0.009;0.005;0.008	B;B;B;B	0.23150	0.026;0.011;0.02;0.044	T	0.15780	-1.0425	10	0.17832	T	0.49	-14.4825	7.5247	0.27647	0.8361:0.0:0.1639:0.0	.	303;303;303;303	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	V	303;303;303;153	ENSP00000314023:I303V;ENSP00000278951:I303V;ENSP00000399635:I303V;ENSP00000436983:I153V	ENSP00000278951:I303V	I	+	1	0	SIDT2	116562094	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.832000	0.69337	1.964000	0.57103	0.383000	0.25322	ATA		0.557	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		18	93	0	0	0	0.055883	0	18	93				
MED1	5469	broad.mit.edu	37	17	37571363	37571363	+	Nonsense_Mutation	SNP	G	G	C	rs1139821		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:37571363G>C	ENST00000394287.3	-	16	1620	c.1415C>G	c.(1414-1416)tCa>tGa	p.S472*	MED1_ENST00000300651.6_Nonsense_Mutation_p.S472*			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CACATGTGTTGAGTCCTGCAC	0.418										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(1414-1416)tCa>tGa		mediator complex subunit 1							193.0	197.0	196.0					17																	37571363		2203	4300	6503	SO:0001587	stop_gained	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37571363G>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1415C>G	17.37:g.37571363G>C	ENSP00000377828:p.Ser472*	HNSCC(31;0.082)				MED1_ENST00000394287.3_Nonsense_Mutation_p.S472*	p.S472*	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	16	1638	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	472	DS -> GL (in Ref. 1; CAA73867).		Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Nonsense_Mutation	SNP	ENST00000394287.3	37	c.1415C>G		.	.	.	.	.	.	.	.	.	.	G	39	7.615887	0.98390	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-1.9451	19.4324	0.94776	0.0:0.0:1.0:0.0	.	.	.	.	X	472	.	ENSP00000300651:S472X	S	-	2	0	MED1	34824889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.097000	0.94193	2.822000	0.97130	0.632000	0.83419	TCA		0.418	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		23	286	0	0	0	0.069288	0	23	286				
ANKRD12	23253	broad.mit.edu	37	18	9257921	9257921	+	Silent	SNP	A	A	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr18:9257921A>T	ENST00000262126.4	+	9	4896	c.4656A>T	c.(4654-4656)ggA>ggT	p.G1552G	ANKRD12_ENST00000383440.2_Silent_p.G1529G|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Silent_p.G1529G	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1552						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTGTCCTAGGAGATGTTCAAA	0.338																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(4585-4587)ggA>ggT		ankyrin repeat domain 12							65.0	66.0	66.0					18																	9257921		2203	4299	6502	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9257921A>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.4656A>T	18.37:g.9257921A>T						ANKRD12_ENST00000400020.3_Silent_p.G1529G|ANKRD12_ENST00000262126.3_Silent_p.G1552G	p.G1529G	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			8	4844	+			1552					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.4587A>T	CCDS11843.1																																																																																				0.338	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		10	30	0	0	0	0.058154	0	10	30				
MEFV	4210	broad.mit.edu	37	16	3293648	3293648	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:3293648G>C	ENST00000219596.1	-	10	1878	c.1839C>G	c.(1837-1839)ttC>ttG	p.F613L	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.F402L|MEFV_ENST00000339854.4_Missense_Mutation_p.F433L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	613	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GATCATCAGAGAAGATGAGGT	0.473																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1837-1839)ttC>ttG		Mediterranean fever	Colchicine(DB01394)						184.0	200.0	195.0					16																	3293648		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293648G>C	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1839C>G	16.37:g.3293648G>C	ENSP00000219596:p.Phe613Leu					MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.F433L|MEFV_ENST00000536379.1_Missense_Mutation_p.F402L	p.F613L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1878	-			613			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1839C>G	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.757258	0.00657	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.03386	3.95;3.95;3.95	5.3	0.794	0.18638	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (2);B30.2/SPRY domain (1);	1.161280	0.06352	N	0.710107	T	0.01558	0.0050	N	0.01729	-0.75	0.25192	N	0.990123	B	0.24132	0.098	B	0.31686	0.134	T	0.44907	-0.9297	10	0.02654	T	1	-13.3615	5.2797	0.15668	0.266:0.0:0.5913:0.1428	.	613	O15553	MEFV_HUMAN	L	613;613;433;402	ENSP00000219596:F613L;ENSP00000339639:F433L;ENSP00000445079:F402L	ENSP00000219596:F613L	F	-	3	2	MEFV	3233649	0.828000	0.29307	0.304000	0.25085	0.364000	0.29643	0.230000	0.17852	0.291000	0.22468	0.650000	0.86243	TTC		0.473	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		42	282	0	0	0	0.033182	0	42	282				
COG3	83548	broad.mit.edu	37	13	46070356	46070356	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr13:46070356A>T	ENST00000349995.5	+	13	1509	c.1397A>T	c.(1396-1398)tAc>tTc	p.Y466F	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	466					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CGGCTCGTCTACCGAACCCAC	0.468																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.(1396-1398)tAc>tTc		component of oligomeric golgi complex 3							81.0	77.0	79.0					13																	46070356		2203	4300	6503	SO:0001583	missense	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46070356A>T	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1397A>T	13.37:g.46070356A>T	ENSP00000258654:p.Tyr466Phe					COG3_ENST00000465942.1_3'UTR	p.Y466F	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	13	1509	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	466					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.1397A>T	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	A	11.86	1.766120	0.31228	.	.	ENSG00000136152	ENST00000349995	T	0.27256	1.68	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	N	0.04805	-0.155	0.80722	D	1	B;P	0.37636	0.113;0.603	B;B	0.28638	0.07;0.092	T	0.17048	-1.0382	10	0.02654	T	1	-8.7809	15.6539	0.77118	1.0:0.0:0.0:0.0	.	303;466	B4E2F3;Q96JB2	.;COG3_HUMAN	F	466	ENSP00000258654:Y466F	ENSP00000258654:Y466F	Y	+	2	0	COG3	44968357	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.339000	0.96797	2.296000	0.77279	0.482000	0.46254	TAC		0.468	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			6	30	0	0	0	0.021553	0	6	30				
THSD7A	221981	broad.mit.edu	37	7	11676026	11676026	+	Silent	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr7:11676026G>C	ENST00000423059.4	-	2	1004	c.753C>G	c.(751-753)ctC>ctG	p.L251L	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	251					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCTGTACCTGAGCTCCTCGG	0.607										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(751-753)ctC>ctG		thrombospondin, type I, domain containing 7A							65.0	62.0	63.0					7																	11676026		2067	4200	6267	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11676026G>C		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.753C>G	7.37:g.11676026G>C		HNSCC(18;0.044)					p.L251L	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	1004	-			251						Silent	SNP	ENST00000423059.4	37	c.753C>G	CCDS47543.1																																																																																				0.607	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		15	54	0	0	0	0.020292	0	15	54				
FLII	2314	broad.mit.edu	37	17	18156755	18156755	+	Silent	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:18156755C>G	ENST00000327031.4	-	9	1098	c.873G>C	c.(871-873)ctG>ctC	p.L291L	FLII_ENST00000579294.1_Silent_p.L280L|FLII_ENST00000584444.1_5'UTR|FLII_ENST00000578558.1_Silent_p.L291L|FLII_ENST00000545457.2_Silent_p.L237L|FLII_ENST00000379450.4_Silent_p.L206L	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	291	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCAGCTTGCTCAGCTTGCAAA	0.602																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(871-873)ctG>ctC		flightless I homolog (Drosophila)							69.0	69.0	69.0					17																	18156755		2203	4300	6503	SO:0001819	synonymous_variant	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18156755C>G	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.873G>C	17.37:g.18156755C>G						FLII_ENST00000545457.2_Silent_p.L237L|FLII_ENST00000379450.4_Silent_p.L206L|FLII_ENST00000584444.1_5'UTR|FLII_ENST00000579294.1_Silent_p.L280L|FLII_ENST00000578558.1_Silent_p.L291L	p.L291L	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			9	1098	-	all_neural(463;0.228)		291			Interaction with LRRFIP1 and LRRFIP2.		B4DIL0|F5H407|J3QLG3	Silent	SNP	ENST00000327031.4	37	c.873G>C	CCDS11192.1																																																																																				0.602	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		3	102	0	0	0	0.014758	0	3	102				
PCNT	5116	broad.mit.edu	37	21	47836599	47836599	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr21:47836599C>T	ENST00000359568.5	+	30	6874	c.6767C>T	c.(6766-6768)gCc>gTc	p.A2256V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2256					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTGTGCAGTGCCGACACATCC	0.692																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(6766-6768)gCc>gTc		pericentrin							24.0	28.0	27.0					21																	47836599		2190	4246	6436	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47836599C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6767C>T	21.37:g.47836599C>T	ENSP00000352572:p.Ala2256Val					PCNT_ENST00000480896.1_3'UTR	p.A2256V	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			30	6874	+	Breast(49;0.112)		2256					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.6767C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	1.369	-0.586498	0.03827	.	.	ENSG00000160299	ENST00000359568	T	0.01414	4.92	4.92	-1.13	0.09775	.	0.946058	0.08569	N	0.926353	T	0.01189	0.0039	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.12156	0.005;0.007	T	0.48043	-0.9069	10	0.25106	T	0.35	.	8.5361	0.33364	0.0:0.4858:0.0:0.5142	.	2138;2256	O95613-2;O95613	.;PCNT_HUMAN	V	2256	ENSP00000352572:A2256V	ENSP00000352572:A2256V	A	+	2	0	PCNT	46661027	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.427000	0.06999	-0.490000	0.06707	0.655000	0.94253	GCC		0.692	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	53	0	0	0	0.014758	0	5	53				
TTBK1	84630	broad.mit.edu	37	6	43220516	43220516	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:43220516G>A	ENST00000259750.4	+	3	231	c.148G>A	c.(148-150)Gag>Aag	p.E50K	TTBK1_ENST00000304139.5_5'UTR	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGAGATCTACGAGGCCATGGA	0.592																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(148-150)Gag>Aag		tau tubulin kinase 1							75.0	73.0	73.0					6																	43220516		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43220516G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.148G>A	6.37:g.43220516G>A	ENSP00000259750:p.Glu50Lys					TTBK1_ENST00000304139.5_5'UTR	p.E50K	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		3	231	+			50			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.148G>A	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813354	0.90790	.	.	ENSG00000146216	ENST00000259750	T	0.16743	2.32	4.36	4.36	0.52297	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.22589	0.0545	L	0.35644	1.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02411	-1.1163	10	0.52906	T	0.07	.	15.6708	0.77274	0.0:0.0:1.0:0.0	.	50	Q5TCY1	TTBK1_HUMAN	K	50	ENSP00000259750:E50K	ENSP00000259750:E50K	E	+	1	0	TTBK1	43328494	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	1.983000	0.57843	0.313000	0.20887	GAG		0.592	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			7	77	0	0	0	0.038147	0	7	77				
PAX3	5077	broad.mit.edu	37	2	223066811	223066811	+	Silent	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:223066811C>T	ENST00000350526.4	-	8	1408	c.1272G>A	c.(1270-1272)acG>acA	p.T424T	PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000392069.2_Silent_p.T424T|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000409551.3_Silent_p.T423T|PAX3_ENST00000392070.2_Silent_p.T424T	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	424					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCCGACACCGTGGTGGTAG	0.577			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1270-1272)acG>acA		paired box 3							99.0	89.0	92.0					2																	223066811		2203	4300	6503	SO:0001819	synonymous_variant	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223066811C>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1272G>A	2.37:g.223066811C>T						PAX3_ENST00000392069.2_Silent_p.T424T|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000409551.3_Silent_p.T423T|PAX3_ENST00000392070.2_Silent_p.T424T|PAX3_ENST00000344493.4_Intron	p.T424T	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1408	-		Renal(207;0.0183)	424					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	c.1272G>A	CCDS42826.1																																																																																				0.577	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			6	40	0	0	0	0.021553	0	6	40				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	47	0	0	0	0.009096	0	4	47				
RIF1	55183	broad.mit.edu	37	2	152319685	152319685	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:152319685G>A	ENST00000243326.5	+	29	4134	c.3651G>A	c.(3649-3651)cgG>cgA	p.R1217R	RIF1_ENST00000428287.2_Silent_p.R1217R|RIF1_ENST00000444746.2_Silent_p.R1217R|RIF1_ENST00000430328.2_Silent_p.R1217R|RIF1_ENST00000453091.2_Silent_p.R1217R			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTACAAGTCGGAGGCAAACCT	0.388																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(3649-3651)cgG>cgA		RAP1 interacting factor homolog (yeast)							80.0	81.0	80.0					2																	152319685		2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152319685G>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3651G>A	2.37:g.152319685G>A						RIF1_ENST00000444746.2_Silent_p.R1217R|RIF1_ENST00000428287.2_Silent_p.R1217R|RIF1_ENST00000430328.2_Silent_p.R1217R|RIF1_ENST00000453091.2_Silent_p.R1217R	p.R1217R			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	4134	+			1217					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.3651G>A	CCDS2194.1																																																																																				0.388	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			11	64	0	0	0	0.080935	0	11	64				
PLCL1	5334	broad.mit.edu	37	2	198948736	198948736	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:198948736G>T	ENST00000428675.1	+	2	893	c.495G>T	c.(493-495)gaG>gaT	p.E165D	PLCL1_ENST00000437704.2_Missense_Mutation_p.E67D	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	165	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E67E(1)|p.E165E(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCATAAAAGAGATCAGACTGG	0.453																																						ENST00000428675.1																			2	Substitution - coding silent(2)	p.E67E(1)|p.E165E(1)	lung(2)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(493-495)gaG>gaT		phospholipase C-like 1	Quinacrine(DB01103)						95.0	102.0	100.0					2																	198948736		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198948736G>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.495G>T	2.37:g.198948736G>T	ENSP00000402861:p.Glu165Asp					PLCL1_ENST00000437704.2_Missense_Mutation_p.E67D	p.E165D	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	893	+			165			Interaction with PPP1C.|PH.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.495G>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663329	0.67700	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.65178	-0.14;-0.14	5.67	2.91	0.33838	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.75657	0.3879	M	0.80982	2.52	0.52099	D	0.999947	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.73474	-0.3971	9	.	.	.	.	7.7971	0.29154	0.4388:0.0:0.5612:0.0	.	165;91	Q15111;B4DYZ4	PLCL1_HUMAN;.	D	165;67	ENSP00000402861:E165D;ENSP00000414138:E67D	.	E	+	3	2	PLCL1	198656981	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.321000	0.33678	0.428000	0.26173	-0.140000	0.14226	GAG		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		23	67	1	0	2.70639e-06	0.069288	3.67474e-06	23	67				
HRNR	388697	broad.mit.edu	37	1	152191918	152191918	+	Silent	SNP	G	G	A	rs146453724	byFrequency	TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:152191918G>A	ENST00000368801.2	-	3	2262	c.2187C>T	c.(2185-2187)caC>caT	p.H729H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	729					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTAGAGCCGTGTTTTCTGT	0.537																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2185-2187)caC>caT		hornerin		G		1,4405		0,1,2202	205.0	202.0	203.0		2187	-4.6	0.0	1	dbSNP_134	203	4,8596		0,4,4296	no	coding-synonymous	HRNR	NM_001009931.1		0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384		729/2851	152191918	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191918G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2187C>T	1.37:g.152191918G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H729H	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2262	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		729					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.2187C>T	CCDS30859.1																																																																																				0.537	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		20	248	0	0	0	0.043863	0	20	248				
SLC30A3	7781	broad.mit.edu	37	2	27480185	27480186	+	Frame_Shift_Ins	INS	-	-	G	rs148758588		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:27480185_27480186insG	ENST00000233535.4	-	5	965_966	c.613_614insC	c.(613-615)cacfs	p.H205fs	SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.H200fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	205					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGTGGCTGTGGGGGGGCCCA	0.658																																						ENST00000233535.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20						c.(613-615)cagfs		solute carrier family 30 (zinc transporter), member 3				18,4246		0,18,2114						5.2	1.0			18	14,8228		0,14,4107	no	frameshift	SLC30A3	NM_003459.4		0,32,6221	A1A1,A1R,RR		0.1699,0.4221,0.2559				32,12474				SO:0001589	frameshift_variant	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27480185_27480186insG	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.614dupC	2.37:g.27480192_27480192dupG	ENSP00000233535:p.His205fs					SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.Q200fs	p.Q205fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN			5	965_966	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		205					Q8TC03	Frame_Shift_Ins	INS	ENST00000233535.4	37	c.613_614insC	CCDS1743.1																																																																																				0.658	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			5	9						5	9	---	---	---	---
MED15P9	285103	broad.mit.edu	37	2	130893080	130893081	+	RNA	INS	-	-	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:130893080_130893081insA	ENST00000427638.1	+	0	541_542					NR_033903.1				mediator complex subunit 15 pseudogene 9																		gactccatctcaaaaaaaaaaa	0.564																																						ENST00000427638.1																			0																																																			285103							g.chr2:130893080_130893081insA	BC036597		2q21.1	2014-05-06	2013-08-13	2013-08-13	ENSG00000223760	ENSG00000223760			44130	pseudogene	pseudogene			"""CCDC74B antisense RNA 1 (non-protein coding)"", ""CCDC74B antisense RNA 1"""	CCDC74B-AS1			Standard	NR_033903		Approved		uc021voa.1				2.37:g.130893091_130893091dupA								NR_033903.1						0	541_542	+									RNA	INS	ENST00000427638.1	37																																																																																						0.564	MED15P9-002	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000470767.1	NR_033903		3	4						3	4	---	---	---	---
ABHD10	55347	broad.mit.edu	37	3	111710339	111710340	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:111710339_111710340insA	ENST00000273359.3	+	5	719_720	c.692_693insA	c.(691-696)ttacatfs	p.H232fs	ABHD10_ENST00000494817.1_3'UTR|ABHD10_ENST00000534857.1_Frame_Shift_Ins_p.H75fs	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	232					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						CACTGCTTGTTACATAGCCCAA	0.431																																						ENST00000273359.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(691-693)tcafs		abhydrolase domain containing 10				1,4265		0,1,2132						5.5	0.4			176	0,8254		0,0,4127	no	frameshift	ABHD10	NM_018394.2		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080				1,12519				SO:0001589	frameshift_variant	55347					mitochondrion	serine-type peptidase activity	g.chr3:111710339_111710340insA	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.693dupA	3.37:g.111710340_111710340dupA	ENSP00000273359:p.His232fs					ABHD10_ENST00000494817.1_3'UTR|ABHD10_ENST00000534857.1_Frame_Shift_Ins_p.S74fs	p.S231fs	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN			5	719_720	+			231					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Frame_Shift_Ins	INS	ENST00000273359.3	37	c.692_693insA	CCDS2963.1																																																																																				0.431	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		20	121						20	121	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31373519	31373520	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:31373519_31373520insA	ENST00000268296.4	+	11	1331_1332	c.1210_1211insA	c.(1210-1212)tacfs	p.Y404fs	ITGAX_ENST00000562522.1_Frame_Shift_Ins_p.Y404fs	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	404					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAGGGACTCTTACCTGGGTGAG	0.599																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1210-1212)cctfs		integrin, alpha X (complement component 3 receptor 4 subunit)																																				SO:0001589	frameshift_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31373519_31373520insA	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1211dupA	16.37:g.31373520_31373520dupA	ENSP00000268296:p.Tyr404fs					ITGAX_ENST00000562522.1_Frame_Shift_Ins_p.P404fs	p.P404fs	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			11	1331_1332	+			404					Q8IVA6	Frame_Shift_Ins	INS	ENST00000268296.4	37	c.1210_1211insA	CCDS10711.1																																																																																				0.599	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		15	94						15	94	---	---	---	---
