#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								703	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>A			703		RNA	SNP	-	NULL		37	NULL		MT																																																																																			-	-	0	0					ENSG00000211459			G			703	+1	no_errors	ENST00000389680	ensembl	human	novel	54_36p	rna	SNP	NULL	A
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								1625	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>A			1625		RNA	SNP	-	NULL		37	NULL		MT																																																																																			-	-	0	0					ENSG00000210077			G			1625	+1	no_errors	ENST00000387342	ensembl	human	novel	54_36p	rna	SNP	NULL	A
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								12540	SO:0001628	intergenic_variant	4540																															Unknown.37:g.0G>A			12540		Nonsense_Mutation	SNP	HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C	p.W68*		37	c.203		MT																																																																																			-	HMMPfam_Oxidored_q1_N	0	0					MT-ND5			G			12540	+1	no_errors	ENST00000361567	ensembl	human	known	54_36p	nonsense	SNP	NULL	A
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	A	A	G			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	A	A					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chrUnknown:0A>G								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								12811	SO:0001628	intergenic_variant	4540																															Unknown.37:g.0A>G			12811		Silent	SNP	HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C	p.W158		37	c.474		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND5			A			12811	+1	no_errors	ENST00000361567	ensembl	human	known	54_36p	silent	SNP	NULL	G
TP53	7157	genome.wustl.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr17:7578400G>C	ENST00000269305.4	-	5	719	c.530C>G	c.(529-531)cCc>cGc	p.P177R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.P177R|TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R|TP53_ENST00000420246.2_Missense_Mutation_p.P177R|TP53_ENST00000455263.2_Missense_Mutation_p.P177R	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	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; 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.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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)	CTCATGGTGGGGGCAGCGCCT	0.647		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	92	Substitution - Missense(41)|Deletion - In frame(20)|Deletion - Frameshift(20)|Whole gene deletion(8)|Complex - deletion inframe(3)	large_intestine(15)|breast(12)|upper_aerodigestive_tract(10)|skin(8)|ovary(8)|haematopoietic_and_lymphoid_tissue(7)|stomach(5)|central_nervous_system(5)|lung(4)|liver(4)|oesophagus(4)|bone(4)|pancreas(3)|prostate(3)	17											48.0	48.0	48.0					17																	7578400		2203	4300	6503	7519125	SO:0001583	missense	7157	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;	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.530C>G	17.37:g.7578400G>C	ENSP00000269305:p.Pro177Arg		7519125	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	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.P177R	ENST00000269305.4	37	c.530	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535580	0.85812	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052869	0.85682	N	0.000000	D	0.99894	0.9949	M	0.90082	3.085	0.80722	D	1	D;D;D;D;P;D;D	0.89917	0.999;0.962;0.974;1.0;0.882;0.97;0.998	D;P;P;D;P;P;D	0.87578	0.99;0.79;0.86;0.998;0.78;0.867;0.978	D	0.96047	0.9028	10	0.87932	D	0	-24.4396	14.492	0.67657	0.0:0.1481:0.8519:0.0	.	138;177;177;84;177;177;177	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	177;177;177;177;177;177;166;84;45;84;45	ENSP00000410739:P177R;ENSP00000352610:P177R;ENSP00000269305:P177R;ENSP00000398846:P177R;ENSP00000391127:P177R;ENSP00000391478:P177R;ENSP00000425104:P45R;ENSP00000423862:P84R	ENSP00000269305:P177R	P	-	2	0	TP53	7519125	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.813000	0.99286	1.475000	0.48197	0.655000	0.94253	CCC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7519125	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ADCY2	108	genome.wustl.edu	37	5	7626301	7626301	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr5:7626301T>A	ENST00000338316.4	+	4	681	c.592T>A	c.(592-594)Ttc>Atc	p.F198I		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	198				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGTGATCATTTTCATCTGTGG	0.448																																																0			5											164.0	159.0	161.0					5																	7626301		2203	4300	6503	7679301	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.592T>A	5.37:g.7626301T>A	ENSP00000342952:p.Phe198Ile		7679301	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053	p.F198I	ENST00000338316.4	37	c.592	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	T	29.6	5.018364	0.93404	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	T	0.79247	-1.25	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.87759	0.6258	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	D	0.89682	0.3891	10	0.87932	D	0	.	12.9201	0.58226	0.0:0.0:0.0:1.0	.	198	Q08462	ADCY2_HUMAN	I	198;49	ENSP00000342952:F198I	ENSP00000342952:F198I	F	+	1	0	ADCY2	7679301	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.338000	0.79269	2.039000	0.60335	0.533000	0.62120	TTC	-	NULL		0.448	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	protein_coding	OTTHUMT00000206930.2	T	NM_020546		7679301	+1	no_errors	NM_020546	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FRMPD4	9758	genome.wustl.edu	37	X	12738901	12738901	+	3'UTR	SNP	A	A	G			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chrX:12738901A>G	ENST00000380682.1	+	0	4724					NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4						positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGACATAGCAGCAGTATCCT	0.577																																																0			X																																								12648822	SO:0001624	3_prime_UTR_variant	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.*249A>G	X.37:g.12738901A>G			12648822	A8K0X9|O15032	Missense_Mutation	SNP	superfamily_WW_Rsp5_WWP,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41	p.S1398G	ENST00000380682.1	37	c.4192	CCDS35201.1	X																																																																																			-	NULL		0.577	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	protein_coding	OTTHUMT00000055771.1	A	XM_045712		12648822	+1	no_start_codon	ENST00000304087	ensembl	human	known	54_36p	missense	SNP	1.000	G
KMT2B	9757	genome.wustl.edu	37	19	36218514	36218514	+	Silent	SNP	C	C	G			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr19:36218514C>G	ENST00000222270.7	+	16	4293	c.4293C>G	c.(4291-4293)ctC>ctG	p.L1431L	KMT2B_ENST00000420124.1_Silent_p.L1431L|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1431					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CACTGCTGCTCTGCACCCAGG	0.721																																																0			19											21.0	25.0	23.0					19																	36218514		1961	4131	6092	40910354	SO:0001819	synonymous_variant	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4293C>G	19.37:g.36218514C>G			40910354	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	HMMPfam_AT_hook,HMMPfam_zf-CXXC	p.S1431C	ENST00000222270.7	37	c.4292	CCDS46055.1	19																																																																																			-	NULL		0.721	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	protein_coding		C	NM_014727		40910354	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_014727	genbank	human	reviewed	54_36p	missense	SNP	0.987	G
BIK	638	genome.wustl.edu	37	22	43520074	43520074	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr22:43520074C>T	ENST00000216115.2	+	2	109	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	16					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GATGGAGACCCTCCTGTATGA	0.517																																																0			22											108.0	109.0	109.0					22																	43520074		2203	4300	6503	41850018	SO:0001583	missense	638			U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.46C>T	22.37:g.43520074C>T	ENSP00000216115:p.Leu16Phe		41850018	Q16582|Q6FH93	Missense_Mutation	SNP	PatternScan_BH3	p.L16F	ENST00000216115.2	37	c.46	CCDS14044.1	22	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787778	0.31593	.	.	ENSG00000100290	ENST00000216115	T	0.27890	1.64	3.98	0.192	0.15134	.	.	.	.	.	T	0.12902	0.0313	N	0.11560	0.145	0.09310	N	1	B	0.12013	0.005	B	0.19666	0.026	T	0.33599	-0.9862	9	0.17832	T	0.49	-3.7201	3.2872	0.06936	0.0:0.2269:0.2277:0.5454	.	16	Q13323	BIK_HUMAN	F	16	ENSP00000216115:L16F	ENSP00000216115:L16F	L	+	1	0	BIK	41850018	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.754000	0.04787	-0.049000	0.13379	-0.345000	0.07892	CTC	-	NULL		0.517	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIK	protein_coding	OTTHUMT00000319676.1	C	NM_001197		41850018	+1	no_errors	NM_001197	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
TTC7A	57217	genome.wustl.edu	37	2	47288007	47288007	+	Missense_Mutation	SNP	G	G	A	rs549475664		TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr2:47288007G>A	ENST00000319190.5	+	19	2620	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	TTC7A_ENST00000263737.6_Missense_Mutation_p.R397Q|TTC7A_ENST00000394850.2_Missense_Mutation_p.R775Q|TTC7A_ENST00000409245.1_Missense_Mutation_p.R717Q	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	751					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CTCTATATGCGGGGCCGGCTG	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19015	0.0		0.0	False		,,,				2504	0.0															0			2											62.0	63.0	63.0					2																	47288007		2203	4300	6503	47141511	SO:0001583	missense	57217			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2252G>A	2.37:g.47288007G>A	ENSP00000316699:p.Arg751Gln		47141511	Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_1,HMMPfam_TPR_2	p.R751Q	ENST00000319190.5	37	c.2252	CCDS33193.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.345606	0.95807	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.124806	0.53938	D	0.000044	D	0.87621	0.6223	M	0.75447	2.3	0.80722	D	1	D;D;D;D	0.69078	0.997;0.996;0.978;0.99	P;D;P;P	0.65874	0.834;0.939;0.705;0.866	D	0.86246	0.1646	10	0.42905	T	0.14	-29.9595	19.6776	0.95943	0.0:0.0:1.0:0.0	.	775;717;751;717	Q2T9J9;B3KPK7;Q9ULT0;G5E9G4	.;.;TTC7A_HUMAN;.	Q	717;751;775;397;578	ENSP00000386307:R717Q;ENSP00000316699:R751Q;ENSP00000378320:R775Q;ENSP00000263737:R397Q	ENSP00000263737:R397Q	R	+	2	0	TTC7A	47141511	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.439000	0.73430	2.746000	0.94184	0.655000	0.94253	CGG	-	superfamily_TPR-like,HMMPfam_TPR_2,HMMSmart_SM00028		0.607	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7A	protein_coding	OTTHUMT00000329667.2	G	XM_372927		47141511	+1	no_errors	NM_020458	genbank	human	validated	54_36p	missense	SNP	0.999	A
SALL1	6299	genome.wustl.edu	37	16	51173222	51173222	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr16:51173222C>T	ENST00000251020.4	-	2	2944	c.2911G>A	c.(2911-2913)Gat>Aat	p.D971N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.D874N|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	971					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GATGTCAAATCCAAAGCCCCA	0.473																																					GBM(103;1352 1446 1855 4775 8890)											0			16											50.0	43.0	46.0					16																	51173222		2198	4300	6498	49730723	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2911G>A	16.37:g.51173222C>T	ENSP00000251020:p.Asp971Asn		49730723	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers	p.D971N	ENST00000251020.4	37	c.2911	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587740	0.66105	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.79653	-1.29;-1.29	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	D	0.87664	0.2536	10	0.48119	T	0.1	.	19.549	0.95310	0.0:1.0:0.0:0.0	.	971	Q9NSC2	SALL1_HUMAN	N	971;874;935	ENSP00000251020:D971N;ENSP00000407914:D874N	ENSP00000251020:D971N	D	-	1	0	SALL1	49730723	1.000000	0.71417	0.997000	0.53966	0.534000	0.34807	7.818000	0.86416	2.616000	0.88540	0.455000	0.32223	GAT	-	NULL		0.473	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	protein_coding	OTTHUMT00000256883.2	C	NM_002968		49730723	-1	no_errors	NM_002968	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
HERC1	8925	genome.wustl.edu	37	15	63964715	63964715	+	Silent	SNP	C	C	A			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr15:63964715C>A	ENST00000443617.2	-	39	8112	c.8025G>T	c.(8023-8025)gtG>gtT	p.V2675V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2675					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAAGAGGCATCACTCCCGGGG	0.502																																																0			15											64.0	64.0	64.0					15																	63964715		2001	4176	6177	61751768	SO:0001819	synonymous_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8025G>T	15.37:g.63964715C>A			61751768	Q8IW65	Silent	SNP	superfamily_RCC1/BLIP-II,HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00449,HMMPfam_SPRY,PatternScan_PHOSPHOPANTETHEINE,HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,PatternScan_ARGINASE_2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.V2675	ENST00000443617.2	37	c.8025	CCDS45277.1	15																																																																																			-	NULL		0.502	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	protein_coding	OTTHUMT00000418523.1	C	NM_003922		61751768	-1	no_errors	NM_003922	genbank	human	reviewed	54_36p	silent	SNP	0.994	A
RPSAP58	388524	genome.wustl.edu	37	16	73975065	73975065	+	IGR	SNP	G	G	A	rs529356338		TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr16:73975065G>A								RP11-53L24.1 (125112 upstream) : AC009120.4 (251225 downstream)																							CACAAGAAGCGGTGGCTCCGG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		17725	0.0		0.001	False		,,,				2504	0.0															0			16																																								72532566	SO:0001628	intergenic_variant	441506																															16.37:g.73975065G>A			72532566		RNA	SNP	-	NULL		37	NULL		16																																																																																			-	-	0	0.527					LOC441506			G			72532566	-1	pseudogene	XR_017565	genbank	human	model	54_36p	rna	SNP	0.974	A
MON1B	22879	genome.wustl.edu	37	16	77228856	77228856	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr16:77228856G>A	ENST00000248248.3	+	4	1450	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	MON1B_ENST00000545553.1_Missense_Mutation_p.R221Q|MON1B_ENST00000439557.2_Missense_Mutation_p.R258Q|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	367										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCCGCCTGCCGGCGCCTGGTT	0.617																																																0			16											60.0	59.0	59.0					16																	77228856		2198	4300	6498	75786357	SO:0001583	missense	22879			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1100G>A	16.37:g.77228856G>A	ENSP00000248248:p.Arg367Gln		75786357	B4DDZ0|O94949	Missense_Mutation	SNP	HMMPfam_Mon1	p.R367Q	ENST00000248248.3	37	c.1100	CCDS10925.1	16	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318942	0.81469	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.69	3.73	0.42828	.	0.053328	0.64402	D	0.000001	T	0.64193	0.2576	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.61697	0.962;0.99;0.99;0.985	P;P;P;P	0.51550	0.475;0.673;0.673;0.489	T	0.67122	-0.5750	9	0.51188	T	0.08	.	6.2081	0.20613	0.2004:0.0:0.7996:0.0	.	221;258;247;367	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	Q	367;258;221	.	ENSP00000248248:R367Q	R	+	2	0	MON1B	75786357	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.303000	0.51858	2.550000	0.86006	0.563000	0.77884	CGG	-	HMMPfam_Mon1		0.617	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON1B	protein_coding	OTTHUMT00000269036.2	G	NM_014940		75786357	+1	no_errors	NM_014940	genbank	human	validated	54_36p	missense	SNP	1.000	A
MYO7A	4647	genome.wustl.edu	37	11	76868037	76868037	+	Missense_Mutation	SNP	G	G	A	rs111033284		TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr11:76868037G>A	ENST00000409709.3	+	7	994	c.722G>A	c.(721-723)cGt>cAt	p.R241H	MYO7A_ENST00000409893.1_Missense_Mutation_p.R241H|MYO7A_ENST00000409619.2_Missense_Mutation_p.R230H|MYO7A_ENST00000458637.2_Missense_Mutation_p.R241H	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	241	Myosin motor.		R -> C (in USH1B). {ECO:0000269|PubMed:10930322}.|R -> S (in USH1B).		actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAAAGTCACGTGTCTGTCGC	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17224	0.0		0.0	False		,,,				2504	0.0															0			11	GRCh37	CM071027	MYO7A	M	rs111033284						67.0	72.0	70.0					11																	76868037		2031	4171	6202	76545685	SO:0001583	missense	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.722G>A	11.37:g.76868037G>A	ENSP00000386331:p.Arg241His		76545685	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMSmart_SM00139,HMMPfam_MyTH4,HMMSmart_SM00295,HMMPfam_FERM_N,superfamily_Second domain of FERM,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1,HMMPfam_FERM_M	p.R241H	ENST00000409709.3	37	c.722	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	g	20.6	4.014936	0.75161	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	5.2	5.2	0.72013	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	H	0.98682	4.3	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99204	1.0874	10	0.66056	D	0.02	.	18.7506	0.91812	0.0:0.0:1.0:0.0	.	241;241;241	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	H	241;241;241;230;240;240;240;240	ENSP00000386331:R241H;ENSP00000386689:R241H;ENSP00000392185:R241H;ENSP00000386635:R230H	ENSP00000345075:R240H	R	+	2	0	MYO7A	76545685	1.000000	0.71417	0.087000	0.20705	0.326000	0.28443	9.782000	0.99034	2.412000	0.81896	0.651000	0.88453	CGT	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	protein_coding	OTTHUMT00000328133.1	G	NM_000260		76545685	+1	no_errors	NM_000260	genbank	human	reviewed	54_36p	missense	SNP	0.414	A
ZFHX4	79776	genome.wustl.edu	37	8	77763429	77763429	+	Silent	SNP	G	G	A	rs199795783		TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr8:77763429G>A	ENST00000521891.2	+	10	4720	c.4272G>A	c.(4270-4272)gcG>gcA	p.A1424A	ZFHX4_ENST00000050961.6_Silent_p.A1379A|ZFHX4_ENST00000455469.2_Silent_p.A1379A|ZFHX4_ENST00000518282.1_Silent_p.A1398A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCGGGCTGCGACAATGTGTA	0.458										HNSCC(33;0.089)																																						0			8						G		0,3862		0,0,1931	52.0	48.0	49.0		4272	-9.9	0.0	8		49	1,8259		0,1,4129	no	coding-synonymous	ZFHX4	NM_024721.4		0,1,6060	AA,AG,GG		0.0121,0.0,0.0082		1424/3617	77763429	1,12121	1931	4130	6061	77925984	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4272G>A	8.37:g.77763429G>A			77925984	G3V138|Q18PS0|Q6ZN20	Silent	SNP	HMMSmart_SM00355,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.A1379	ENST00000521891.2	37	c.4137	CCDS47878.2	8																																																																																			-	superfamily_C2H2 and C2HC zinc fingers		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	G	NM_024721		77925984	+1	no_errors	NM_024721	genbank	human	validated	54_36p	silent	SNP	0.363	A
FBXW4	6468	genome.wustl.edu	37	10	103371507	103371507	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr10:103371507C>T	ENST00000331272.7	-	8	1615	c.997G>A	c.(997-999)Gag>Aag	p.E333K	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	333					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		TGGGGCTCCTCCCACTCCATG	0.592																																																0			10											76.0	66.0	69.0					10																	103371507		2203	4300	6503	103361497	SO:0001583	missense	6468			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.997G>A	10.37:g.103371507C>T	ENSP00000359149:p.Glu333Lys		103361497	Q5SVS1|Q96IM6	Missense_Mutation	SNP	PatternScan_WD_REPEATS_1,superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40	p.E333K	ENST00000331272.7	37	c.997	CCDS31271.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.231993	0.95207	.	.	ENSG00000107829	ENST00000331272;ENST00000389046	T	0.73789	-0.78	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82195	0.4984	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.76473	-0.2946	10	0.06494	T	0.89	-20.1507	18.5729	0.91142	0.0:1.0:0.0:0.0	.	333	P57775	FBXW4_HUMAN	K	333	ENSP00000359149:E333K	ENSP00000359149:E333K	E	-	1	0	FBXW4	103361497	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.286000	0.78671	2.614000	0.88457	0.555000	0.69702	GAG	-	superfamily_WD40_like,HMMSmart_WD40		0.592	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW4	protein_coding	OTTHUMT00000049979.2	C	NM_022039		103361497	-1	no_errors	NM_022039	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
IGSF3	3321	genome.wustl.edu	37	1	117122413	117122413	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr1:117122413G>A	ENST00000369486.3	-	10	3700	c.2935C>T	c.(2935-2937)Cgc>Tgc	p.R979C	IGSF3_ENST00000318837.6_Missense_Mutation_p.R999C|IGSF3_ENST00000369483.1_Missense_Mutation_p.R999C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	979	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGGCTGGAGCGGGACACGATG	0.592																																																0			1											37.0	36.0	36.0					1																	117122413		2203	4300	6503	116923936	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2935C>T	1.37:g.117122413G>A	ENSP00000358498:p.Arg979Cys		116923936	A6NJZ6|A6NMC7	Missense_Mutation	SNP	superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_ig	p.R999C	ENST00000369486.3	37	c.2995	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651009	0.88056	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.22539	1.95;1.95;1.95	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.218972	0.42172	D	0.000759	T	0.26484	0.0647	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	P;P	0.59288	0.791;0.855	T	0.01225	-1.1413	10	0.56958	D	0.05	-36.4972	15.1177	0.72416	0.0:0.0:1.0:0.0	.	979;999	O75054;A6NJZ6	IGSF3_HUMAN;.	C	979;999;999	ENSP00000358498:R979C;ENSP00000358495:R999C;ENSP00000321184:R999C	ENSP00000321184:R999C	R	-	1	0	IGSF3	116923936	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	8.151000	0.89636	2.421000	0.82119	0.462000	0.41574	CGC	-	superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig		0.592	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	protein_coding	OTTHUMT00000059040.1	G	NM_001542		116923936	-1	no_errors	NM_001542	genbank	human	validated	54_36p	missense	SNP	1.000	A
KMT2A	4297	genome.wustl.edu	37	11	118376575	118376575	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr11:118376575G>A	ENST00000389506.5	+	27	9959	c.9959G>A	c.(9958-9960)aGc>aAc	p.S3320N	KMT2A_ENST00000534358.1_Missense_Mutation_p.S3323N|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3282N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3320					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCAACAATAAGCCAGGATACT	0.488																																																0			11											105.0	100.0	102.0					11																	118376575		2200	4295	6495	117881785	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9959G>A	11.37:g.118376575G>A	ENSP00000374157:p.Ser3320Asn		117881785	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMPfam_zf-CXXC,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,PatternScan_RECR,HMMSmart_SM00297,superfamily_Bromodomain,HMMPfam_FYRN,HMMSmart_SM00541,PatternScan_EF_HAND_1,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508	p.S3320N	ENST00000389506.5	37	c.9959	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064678	0.36470	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82711	-1.64;-1.64;-1.61	5.92	4.06	0.47325	.	0.154071	0.64402	N	0.000019	T	0.67655	0.2916	N	0.08118	0	0.33256	D	0.559133	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.67987	-0.5528	10	0.46703	T	0.11	.	12.6582	0.56799	0.1316:0.0:0.8684:0.0	.	3323;3320	E9PQG7;Q03164	.;MLL1_HUMAN	N	3323;3320;3282;2230	ENSP00000436786:S3323N;ENSP00000374157:S3320N;ENSP00000346516:S3282N	ENSP00000346516:S3282N	S	+	2	0	MLL	117881785	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.393000	0.73217	0.851000	0.35264	0.467000	0.42956	AGC	-	NULL		0.488	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	protein_coding	OTTHUMT00000399085.2	G	NM_005933		117881785	+1	no_errors	NM_005933	genbank	human	validated	54_36p	missense	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	T			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chrUnknown:0G>T								None (None upstream) : None (None downstream)																								0.0																																																0			7																																								141949422	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>T			141949422		Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406	p.R83L		37	c.248		7																																																																																			-	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406	0	0					uc003vzh.2			G			141949422	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390386	ensembl	human	known	54_36p	missense	SNP	0.011	T
NF1	4763	genome.wustl.edu	37	17	29586050	29586054	+	Splice_Site	DEL	ATACT	ATACT	-	rs199474733		TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	ATACT	ATACT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr17:29586050_29586054delATACT	ENST00000358273.4	+	33	4716_4720	c.4333_4337delATACT	c.(4333-4338)atactt>t	p.IL1445fs	NF1_ENST00000356175.3_Splice_Site_p.IL1424fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1445	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATTGTGTAGATACTTCAGAGTATT	0.298			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	17	GRCh37	CM990929	NF1	M																																				26610180	SO:0001630	splice_region_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4333-1ATACT>-	17.37:g.29586050_29586054delATACT			26610176	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516	p.I1445fs	ENST00000358273.4	37	c.4333_4337	CCDS42292.1	17																																																																																			(deletion:cds_exon[26610176,26610273])	HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP		0.298	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	ATACT	NM_000267	Frame_Shift_Del	26610180	+1	no_errors	NM_001042492	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:0.998:1.000:1.000	-
HIST1H2BL	8340	genome.wustl.edu	37	6	27775557	27775557	+	Frame_Shift_Del	DEL	T	T	-			TCGA-29-1771-01A-01W-0633-09	TCGA-29-1771-10A-01W-0634-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	c2b715fd-1115-4496-a75c-90174080a96c	2906ec4b-8fce-443d-9fa5-1a9c8fb19865	g.chr6:27775557delT	ENST00000377401.2	-	1	152	c.128delA	c.(127-129)tacfs	p.Y43fs	HIST1H2AI_ENST00000358739.3_5'Flank|HIST1H3H_ENST00000369163.2_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	43					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CAGCACCTTGTACACGTACAC	0.582																																																0			6											215.0	201.0	206.0					6																	27775557		2203	4298	6501	27883536	SO:0001589	frameshift_variant	8340			Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.128delA	6.37:g.27775557delT	ENSP00000366618:p.Tyr43fs		27883536	B2R5A3|Q52LW9	Frame_Shift_Del	DEL	superfamily_Histone-fold,HMMSmart_H2B,HMMPfam_Histone,PatternScan_HISTONE_H2B	p.Y43fs	ENST00000377401.2	37	c.128	CCDS4625.1	6																																																																																			(deletion:cds_exon[27883283,27883663])	superfamily_Histone-fold,HMMSmart_H2B,HMMPfam_Histone		0.582	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BL	protein_coding	OTTHUMT00000040153.1	T	NM_003519		27883536	-1	no_errors	NM_003519	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-
