#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_BAM_File	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_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	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_rs_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
COG8	84342	genome.wustl.edu	37	16	69354710	69354710	+	5'UTR	SNP	C	C	T			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr16:69354710C>T	ENST00000564419.1	-	0	268				VPS4A_ENST00000254950.11_Intron			Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8						protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CTGGAGGCTTCCTCCCACCAT	0.627																																																	0								ENSG00000213380						21.0	23.0	23.0					16																	69354710		2049	4181	6230	COG8	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000564419.1:c.-668G>A	16.37:g.69354710C>T		Somatic	0	13	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	9	35.71	Q0VAK2|Q8WVV6|Q9H6F8	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000564419.1	37	NULL		16																																																																																			-	-		0.627	COG8-005	PUTATIVE	basic	processed_transcript	COG8	protein_coding	OTTHUMT00000430567.1	C	NM_032382	-		69354710	-1	no_errors	ENST00000564419	ensembl	human	putative	74_37	rna	SNP	0.001	T
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	ENSG00000141510						67.0	58.0	61.0					17																	7577120		2203	4300	6503	TP53	SO:0001583	missense	0	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;	GMAF=0.0005	HGNC	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	Somatic	0	33	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	21	44.74	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	NA	NA	NA	NA	NA	NA	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	rs28934576		7577120	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.864	T
DPY19L3	147991	genome.wustl.edu	37	19	32954861	32954861	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr19:32954861C>G	ENST00000342179.5	+	14	1747	c.1532C>G	c.(1531-1533)tCa>tGa	p.S511*	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Nonsense_Mutation_p.S511*|DPY19L3_ENST00000392250.2_Nonsense_Mutation_p.S511*	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	511						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CTTCTGAAGTCAGTCCATCTT	0.408																																																	0								ENSG00000178904						213.0	188.0	196.0					19																	32954861		2203	4300	6503	DPY19L3	SO:0001587	stop_gained	0			-	HGNC		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1532C>G	19.37:g.32954861C>G	ENSP00000344937:p.Ser511*	Somatic	0	86	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	31	53.03	Q68DC7|Q6ZTB7|Q6ZTS2	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dpy-19	p.S511*	ENST00000342179.5	37	c.1532	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.291509	0.97449	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	.	.	.	4.93	1.59	0.23543	.	0.715338	0.13844	N	0.358858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.4215	5.2805	0.15673	0.0:0.2636:0.258:0.4783	.	.	.	.	X	511	.	ENSP00000315672:S511X	S	+	2	0	DPY19L3	37646701	0.038000	0.19896	0.039000	0.18376	0.981000	0.71138	0.247000	0.18179	-0.031000	0.13781	0.557000	0.71058	TCA	-	pfam_Dpy-19		0.408	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	protein_coding	OTTHUMT00000450311.1	C	NM_207325	-		32954861	+1	no_errors	ENST00000342179	ensembl	human	known	74_37	nonsense	SNP	0.002	G
CEL	1056	genome.wustl.edu	37	9	135946015	135946015	+	Missense_Mutation	SNP	T	T	C	rs77696629	byFrequency	TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr9:135946015T>C	ENST00000372080.4	+	10	1479	c.1463T>C	c.(1462-1464)aTc>aCc	p.I488T	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	485					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		AAGGCCATGATCGCCTACTGG	0.612																																																	0								ENSG00000170835						76.0	86.0	83.0					9																	135946015		2018	4177	6195	CEL	SO:0001583	missense	0			-	HGNC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1463T>C	9.37:g.135946015T>C	ENSP00000361151:p.Ile488Thr	Somatic	0	45	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.I488T	ENST00000372080.4	37	c.1463	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234627	0.79800	.	.	ENSG00000170835	ENST00000372080;ENST00000303626	T	0.68025	-0.3	5.72	4.57	0.56435	Carboxylesterase, type B (1);	0.094910	0.64402	D	0.000001	T	0.72993	0.3530	L	0.38175	1.15	0.80722	D	1	D	0.54047	0.964	D	0.75020	0.985	T	0.74463	-0.3657	10	0.87932	D	0	.	11.5416	0.50669	0.134:0.0:0.0:0.866	.	485	P19835	CEL_HUMAN	T	488;487	ENSP00000361151:I488T	ENSP00000304021:I487T	I	+	2	0	CEL	134935836	1.000000	0.71417	0.959000	0.39883	0.951000	0.60555	7.622000	0.83099	0.976000	0.38417	0.391000	0.25812	ATC	-	pfam_CarbesteraseB		0.612	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	protein_coding	OTTHUMT00000054823.1	T		rs77696629		135946015	+1	no_errors	ENST00000372080	ensembl	human	known	74_37	missense	SNP	1.000	C
EVPLL	645027	genome.wustl.edu	37	17	18291433	18291438	+	Intron	DEL	CACAGC	CACAGC	-	rs140944304	byFrequency	TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	CACAGC	CACAGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr17:18291433_18291438delCACAGC	ENST00000399134.4	+	10	1234				RP1-37N7.1_ENST00000579352.1_RNA|EVPLL_ENST00000583003.1_Intron	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like											NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						tttaattaatcacagccaaccctcaa	0.335														2505	0.5002	0.7262	0.5375	5008	,	,		11867	0.1925		0.5517	False		,,,				2504	0.4325																0								ENSG00000264177																																			RP1-37N7.1	SO:0001627	intron_variant	0				Clone_based_vega_gene		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.877-95CACAGC>-	17.37:g.18291433_18291438delCACAGC		Somatic	NA	NA	NA		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B4DPD4	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000399134.4	37	NULL	CCDS45626.1	17																																																																																			-	-		0.335	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LOC101928729	protein_coding	OTTHUMT00000130836.2	CACAGC	NM_001145127			18291438	-1	no_errors	ENST00000579352	ensembl	human	known	74_37	rna	DEL	0.100:0.098:0.095:0.091:0.087:0.081	-
SRPK2	6733	genome.wustl.edu	37	7	104844170	104844172	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	GGT	GGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr7:104844170_104844172delGGT	ENST00000393651.3	-	3	219_221	c.132_134delACC	c.(130-135)ccaccg>ccg	p.44_45PP>P	SRPK2_ENST00000489828.1_In_Frame_Del_p.33_34PP>P|SRPK2_ENST00000357311.3_In_Frame_Del_p.33_34PP>P	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.P33P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAAAggtggcggtggtggtggtg	0.552																																																	1	Substitution - coding silent(1)	large_intestine(1)						ENSG00000135250																																			SRPK2	SO:0001651	inframe_deletion	0				HGNC	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.132_134delACC	7.37:g.104844179_104844181delGGT	ENSP00000377262:p.Pro47del	Somatic	0	44	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67		In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P47in_frame_del	ENST00000393651.3	37	c.134_132	CCDS34724.1	7																																																																																			-	NULL		0.552	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	protein_coding	OTTHUMT00000348723.1	GGT	NM_182691			104844172	-1	no_errors	ENST00000393651	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.570	-
RB1	5925	genome.wustl.edu	37	13	49033886	49033886	+	Nonsense_Mutation	SNP	G	G	T	rs137853295		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr13:49033886G>T	ENST00000267163.4	+	20	2161	c.2023G>T	c.(2023-2025)Gaa>Taa	p.E675*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	675	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGAGCACCCAGAATTAGAACA	0.423		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	26	Whole gene deletion(15)|Unknown(11)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	GRCh37	CM920604	RB1	M	rs137853295	ENSG00000139687						113.0	110.0	111.0					13																	49033886		2203	4300	6503	RB1	SO:0001587	stop_gained	0	Familial Cancer Database		-	HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2023G>T	13.37:g.49033886G>T	ENSP00000267163:p.Glu675*	Somatic	0	123	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	3	92.50	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.E675*	ENST00000267163.4	37	c.2023	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	40	8.237438	0.98719	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.7	5.7	0.88788	.	0.183316	0.47093	D	0.000258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.9984	19.8339	0.96646	0.0:0.0:1.0:0.0	.	.	.	.	X	654;675	.	ENSP00000267163:E675X	E	+	1	0	RB1	47931887	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.476000	0.97823	2.698000	0.92095	0.585000	0.79938	GAA	-	pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like		0.423	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	G		rs137853295		49033886	+1	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	SNP	1.000	T
WNK1	65125	genome.wustl.edu	37	12	994968	994968	+	Silent	SNP	C	C	T			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr12:994968C>T	ENST00000315939.6	+	19	5641	c.4998C>T	c.(4996-4998)caC>caT	p.H1666H	WNK1_ENST00000535572.1_Silent_p.H1419H|WNK1_ENST00000530271.2_Silent_p.H2164H|WNK1_ENST00000537687.1_Silent_p.H1926H|WNK1_ENST00000340908.4_Silent_p.H1259H	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1666					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCAGTGAACACAGCTCATCTG	0.478																																					Colon(19;451 567 6672 12618 28860)												0								ENSG00000060237						92.0	84.0	86.0					12																	994968		2203	4300	6503	WNK1	SO:0001819	synonymous_variant	0			-	HGNC	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4998C>T	12.37:g.994968C>T		Somatic	0	34	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H2164	ENST00000315939.6	37	c.6492	CCDS8506.1	12																																																																																			-	NULL		0.478	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	protein_coding	OTTHUMT00000206683.1	C	NM_018979	-		994968	+1	no_errors	ENST00000530271	ensembl	human	known	74_37	silent	SNP	0.097	T
NOS1	4842	genome.wustl.edu	37	12	117672496	117672496	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr12:117672496G>T	ENST00000338101.4	-	21	3215	c.3211C>A	c.(3211-3213)Cac>Aac	p.H1071N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.H1037N			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ACACCCAGGTGGTCCCCAGGC	0.587																																					Esophageal Squamous(162;1748 2599 51982 52956)												0								ENSG00000089250						45.0	50.0	48.0					12																	117672496		2038	4187	6225	NOS1	SO:0001583	missense	0			-	HGNC		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3211C>A	12.37:g.117672496G>T	ENSP00000337459:p.His1071Asn	Somatic	0	102	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	56	39.78		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.H1037N	ENST00000338101.4	37	c.3109	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.270846	0.95429	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.70164	-0.46;-0.46	5.05	5.05	0.67936	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.84456	0.5476	M	0.86953	2.85	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.87018	0.2127	10	0.72032	D	0.01	-41.9998	18.583	0.91178	0.0:0.0:1.0:0.0	.	1037	P29475	NOS1_HUMAN	N	932;1037;1037;1071	ENSP00000320758:H1037N;ENSP00000337459:H1071N	ENSP00000320758:H1037N	H	-	1	0	NOS1	116156879	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.525000	0.98039	2.615000	0.88500	0.561000	0.74099	CAC	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase		0.587	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	protein_coding	OTTHUMT00000268053.1	G		-		117672496	-1	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	SNP	1.000	T
KCNV1	27012	genome.wustl.edu	37	8	110984849	110984849	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr8:110984849C>T	ENST00000524391.1	-	3	1661	c.629G>A	c.(628-630)cGt>cAt	p.R210H	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.R210H			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	210					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCCAAAGATACGGGCAGCTGT	0.517																																																	0								ENSG00000164794						93.0	87.0	89.0					8																	110984849		2203	4300	6503	KCNV1	SO:0001583	missense	0			-	HGNC	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.629G>A	8.37:g.110984849C>T	ENSP00000435954:p.Arg210His	Somatic	0	65	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	Q9UHJ4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.R210H	ENST00000524391.1	37	c.629	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314042	0.81358	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97642	-4.47;-4.47	5.35	5.35	0.76521	.	0.125508	0.47852	D	0.000210	D	0.97374	0.9141	M	0.82923	2.615	0.40274	D	0.97832	D	0.65815	0.995	P	0.51833	0.681	D	0.97730	1.0202	10	0.72032	D	0.01	.	11.5104	0.50490	0.0:0.9183:0.0:0.0817	.	210	Q6PIU1	KCNV1_HUMAN	H	210;210;86	ENSP00000435954:R210H;ENSP00000297404:R210H	ENSP00000297404:R210H	R	-	2	0	KCNV1	111054025	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.552000	0.53705	2.499000	0.84300	0.557000	0.71058	CGT	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv4		0.517	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	protein_coding	OTTHUMT00000385525.1	C	NM_014379	-		110984849	-1	no_errors	ENST00000297404	ensembl	human	known	74_37	missense	SNP	1.000	T
MCF2L2	23101	genome.wustl.edu	37	3	182994710	182994710	+	Silent	SNP	C	C	T			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr3:182994710C>T	ENST00000328913.3	-	15	2109	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	MCF2L2_ENST00000473233.1_Silent_p.G604G|MCF2L2_ENST00000447025.2_Silent_p.G604G|MCF2L2_ENST00000414362.2_Silent_p.G604G	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	604							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCTCAGGGTTCCCCCTTTCAT	0.517																																																	0								ENSG00000053524						29.0	28.0	28.0					3																	182994710		2203	4300	6503	MCF2L2	SO:0001819	synonymous_variant	0			-	HGNC	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1812G>A	3.37:g.182994710C>T		Somatic	0	135	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	66	41.07	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G604	ENST00000328913.3	37	c.1812	CCDS3243.1	3																																																																																			-	NULL		0.517	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	protein_coding	OTTHUMT00000350868.1	C	NM_015078	-		182994710	-1	no_errors	ENST00000328913	ensembl	human	known	74_37	silent	SNP	0.000	T
RP11-2H3.6	0	genome.wustl.edu	37	4	410222	410222	+	lincRNA	SNP	G	G	A			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr4:410222G>A	ENST00000609771.1	-	0	104																											AGAACTGAATGCATTTTTAGA	0.363																																																	0								ENSG00000272885																																			RP11-2H3.6			0			-	Clone_based_vega_gene																													4.37:g.410222G>A		Somatic	0	31	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000609771.1	37	NULL		4																																																																																			-	-		0.363	RP11-2H3.6-001	KNOWN	basic	lincRNA	ENSG00000272885	lincRNA	OTTHUMT00000472396.1	G		-		410222	-1	no_errors	ENST00000609771	ensembl	human	known	74_37	rna	SNP	0.014	A
ABI3	51225	genome.wustl.edu	37	17	47295170	47295170	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr17:47295170delC	ENST00000225941.1	+	3	853	c.355delC	c.(355-357)cccfs	p.P120fs	ABI3_ENST00000419580.2_Frame_Shift_Del_p.P114fs	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	120					cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCAGCGGCTGCCCCCCGGCCA	0.607										HNSCC(55;0.14)																																							0								ENSG00000108798						94.0	93.0	94.0					17																	47295170		2203	4300	6503	ABI3	SO:0001589	frameshift_variant	0				HGNC	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.355delC	17.37:g.47295170delC	ENSP00000225941:p.Pro120fs	Somatic	0	40	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	34	8.11	C9IZN8|Q9H0P6	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.G121fs	ENST00000225941.1	37	c.355	CCDS11546.1	17																																																																																			-	pfam_Abl-interactor_HHR_dom		0.607	ABI3-001	KNOWN	basic|CCDS	protein_coding	ABI3	protein_coding	OTTHUMT00000364475.1	C	NM_016428			47295170	+1	no_errors	ENST00000225941	ensembl	human	known	74_37	frame_shift_del	DEL	0.866	-
INF2	64423	genome.wustl.edu	37	14	105173863	105173874	+	In_Frame_Del	DEL	CCCCACCCCCAC	CCCCACCCCCAC	-	rs573567814|rs553174468	byFrequency	TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	CCCCACCCCCAC	CCCCACCCCCAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr14:105173863_105173874delCCCCACCCCCAC	ENST00000392634.4	+	8	1371_1382	c.1259_1270delCCCCACCCCCAC	c.(1258-1272)accccacccccaccc>acc	p.PPPP425del	INF2_ENST00000330634.7_In_Frame_Del_p.PPPP425del	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	425	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.P427_P428delPP(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGGCGTCCAccccacccccacccccaccccc	0.712														802	0.160144	0.0613	0.1686	5008	,	,		3151	0.126		0.2614	False		,,,				2504	0.2188																1	Deletion - In frame(1)	skin(1)						ENSG00000203485		,	32,140,1168		15,1,1,53,33,567					,	-6.6	0.0		dbSNP_107	5	65,790,2431		28,5,4,309,167,1130	no	codingComplex,codingComplex	INF2	NM_022489.3,NM_001031714.3	,	43,6,5,362,200,1697	A1A1,A1A2,A1R,A2A2,A2R,RR		26.0195,12.8358,22.2006	,	,		97,930,3599				INF2	SO:0001651	inframe_deletion	0				HGNC	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1259_1270delCCCCACCCCCAC	14.37:g.105173863_105173874delCCCCACCCCCAC	ENSP00000376410:p.Pro425_Pro428del	Somatic	NA	NA	NA		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.PPPP424in_frame_del	ENST00000392634.4	37	c.1259_1270	CCDS9989.2	14																																																																																			-	NULL		0.712	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	protein_coding	OTTHUMT00000074371.4	CCCCACCCCCAC	NM_022489			105173874	+1	no_errors	ENST00000392634	ensembl	human	known	74_37	in_frame_del	DEL	0.431:0.313:0.918:0.874:0.812:0.982:0.976:0.941:0.992:0.945:0.221:0.238	-
RAPH1	65059	genome.wustl.edu	37	2	204313494	204313494	+	Silent	SNP	C	C	T			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr2:204313494C>T	ENST00000319170.5	-	11	1778	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	RAPH1_ENST00000453034.1_Silent_p.L545L|RAPH1_ENST00000374488.2_Silent_p.L518L|RAPH1_ENST00000418114.1_Silent_p.L493L|RAPH1_ENST00000374489.2_Silent_p.L520L|RAPH1_ENST00000374493.3_Silent_p.L545L|RAPH1_ENST00000457812.1_Silent_p.L493L|RAPH1_ENST00000308091.4_Silent_p.L545L|RAPH1_ENST00000423104.1_Silent_p.L520L|RAPH1_ENST00000419464.1_Silent_p.L493L|RAPH1_ENST00000439222.1_Silent_p.L518L	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	493	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCACTGATGCAGTGTCCTCA	0.383																																																	0								ENSG00000173166						175.0	157.0	163.0					2																	204313494		2203	4300	6503	RAPH1	SO:0001819	synonymous_variant	0			-	HGNC	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1479G>A	2.37:g.204313494C>T		Somatic	0	92	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q96Q37|Q9C0I2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.L545	ENST00000319170.5	37	c.1635	CCDS2359.1	2																																																																																			-	pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.383	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	protein_coding	OTTHUMT00000256363.2	C	NM_025252	-		204313494	-1	no_errors	ENST00000374493	ensembl	human	known	74_37	silent	SNP	0.997	T
POTEB2	100287399	genome.wustl.edu	37	15	21038172	21038172	+	IGR	SNP	C	C	G	rs370569866		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr15:21038172C>G	ENST00000454856.4	-	0	1687				MIR3118-4_ENST00000584700.1_RNA	NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2																		caccgtgtgactgcattatga	0.408																																																	0								ENSG00000265322																																			MIR3118-4	SO:0001628	intergenic_variant	0			-	HGNC		CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829		15.37:g.21038172C>G		Somatic	0	19	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000454856.4	37	NULL	CCDS59248.1	15																																																																																			-	-		0.408	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3118-4	protein_coding	OTTHUMT00000471435.1	C		-		21038172	+1	no_errors	ENST00000584700	ensembl	human	known	74_37	rna	SNP	0.000	G
NLRP8	126205	genome.wustl.edu	37	19	56467377	56467377	+	Silent	SNP	G	G	T			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr19:56467377G>T	ENST00000291971.3	+	3	2024	c.1953G>T	c.(1951-1953)cgG>cgT	p.R651R	NLRP8_ENST00000590542.1_Silent_p.R651R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	651			R -> W (in dbSNP:rs41481648).		neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCCTGAAGCGGTGTCAATATT	0.458																																																	0								ENSG00000179709						143.0	132.0	136.0					19																	56467377		2203	4300	6503	NLRP8	SO:0001819	synonymous_variant	0			-	HGNC	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1953G>T	19.37:g.56467377G>T		Somatic	0	97	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	Q7RTR4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R651	ENST00000291971.3	37	c.1953	CCDS12937.1	19																																																																																			-	NULL		0.458	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	protein_coding	OTTHUMT00000457462.1	G	NM_176811	-		56467377	+1	no_errors	ENST00000291971	ensembl	human	known	74_37	silent	SNP	0.006	T
TTN	7273	genome.wustl.edu	37	2	179399581	179399581	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr2:179399581G>T	ENST00000591111.1	-	308	97062	c.96838C>A	c.(96838-96840)Cac>Aac	p.H32280N	TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H31353N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H24981N|TTN_ENST00000460472.2_Missense_Mutation_p.H24856N|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H25048N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H33921N			Q8WZ42	TITIN_HUMAN	titin	32280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGACCTGGTGAACATAACTT	0.333																																																	0								ENSG00000155657						73.0	73.0	73.0					2																	179399581		1861	4107	5968	TTN	SO:0001583	missense	0			-	HGNC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96838C>A	2.37:g.179399581G>T	ENSP00000465570:p.His32280Asn	Somatic	0	58	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H31353N	ENST00000591111.1	37	c.94057		2	.	.	.	.	.	.	.	.	.	.	G	9.303	1.053705	0.19907	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.41858	0.1177	L	0.37630	1.12	0.26276	N	0.978353	B;B;B;B	0.13594	0.008;0.008;0.008;0.008	B;B;B;B	0.19148	0.012;0.012;0.024;0.024	T	0.38200	-0.9672	9	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	24856;24981;25048;32280	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	31353;24856;25048;24981;24853	ENSP00000343764:H31353N;ENSP00000434586:H24856N;ENSP00000340554:H25048N;ENSP00000352154:H24981N	ENSP00000340554:H25048N	H	-	1	0	TTN	179107827	1.000000	0.71417	0.990000	0.47175	0.831000	0.47069	4.859000	0.62954	2.857000	0.98124	0.650000	0.86243	CAC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.333	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179399581	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	0.995	T
PPAN	56342	genome.wustl.edu	37	19	10218217	10218217	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr19:10218217G>T	ENST00000253107.7	+	3	332	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L	SNORD105B_ENST00000458770.1_RNA|PPAN_ENST00000393793.1_Missense_Mutation_p.V23L|PPAN_ENST00000556468.1_Missense_Mutation_p.V76L|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.V76L|SNORD105_ENST00000386910.1_RNA|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.V76L	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	76	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTGCGTGGCAGTGGCTGGGCC	0.478																																																	0								ENSG00000243207						60.0	68.0	65.0					19																	10218217		2203	4300	6503	PPAN-P2RY11	SO:0001583	missense	0			-	HGNC	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.226G>T	19.37:g.10218217G>T	ENSP00000253107:p.Val76Leu	Somatic	0	62	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM	p.V76L	ENST00000253107.7	37	c.226	CCDS12225.1	19	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379867	0.61845	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223;ENST00000430370	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.81	4.77	0.60923	Brix domain (3);	.	.	.	.	T	0.38374	0.1038	M	0.62209	1.925	0.54753	D	0.999983	D;D;D	0.59357	0.985;0.97;0.97	P;P;P	0.60345	0.873;0.686;0.749	T	0.09997	-1.0649	9	0.26408	T	0.33	-43.0658	14.7259	0.69343	0.0:0.1457:0.8542:0.0	.	76;76;76	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	L	76;76;76;76;76;23;14;14	ENSP00000411918:V76L;ENSP00000377385:V76L;ENSP00000253107:V76L;ENSP00000450710:V76L;ENSP00000377382:V23L;ENSP00000410485:V14L;ENSP00000415988:V14L	ENSP00000253107:V76L	V	+	1	0	PPAN;PPAN-P2RY11	10079217	1.000000	0.71417	0.998000	0.56505	0.296000	0.27459	4.250000	0.58772	1.452000	0.47756	0.555000	0.69702	GTG	-	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix		0.478	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAN-P2RY11	protein_coding	OTTHUMT00000316658.1	G	NM_020230	-		10218217	+1	no_errors	ENST00000393796	ensembl	human	known	74_37	missense	SNP	1.000	T
PRODH	5625	genome.wustl.edu	37	22	18907073	18907073	+	Missense_Mutation	SNP	G	G	A	rs573044597		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr22:18907073G>A	ENST00000357068.6	-	10	1407	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	PRODH_ENST00000420436.1_Missense_Mutation_p.A273V|PRODH_ENST00000334029.2_Missense_Mutation_p.A273V	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	381					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GGTCTGCTCGGCATCCACCAT	0.602													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14825	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000100033						28.0	27.0	27.0					22																	18907073		2203	4299	6502	PRODH	SO:0001583	missense	0			-	HGNC	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.1142C>T	22.37:g.18907073G>A	ENSP00000349577:p.Ala381Val	Somatic	0	47	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Proline_DH	p.A381V	ENST00000357068.6	37	c.1142	CCDS13754.1	22	.	.	.	.	.	.	.	.	.	.	.	34	5.410403	0.96072	.	.	ENSG00000100033	ENST00000357068;ENST00000313755;ENST00000446371	T	0.49432	0.78	4.36	4.36	0.52297	Proline dehydrogenase (1);	0.047781	0.85682	N	0.000000	T	0.79347	0.4430	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.976;1.0;0.986	D	0.87000	0.2116	10	0.87932	D	0	-39.6297	15.3502	0.74376	0.0:0.0:1.0:0.0	.	297;381;273	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	V	381;26;106	ENSP00000349577:A381V	ENSP00000318329:A26V	A	-	2	0	PRODH	17287073	1.000000	0.71417	0.722000	0.30670	0.969000	0.65631	9.076000	0.94009	2.397000	0.81536	0.543000	0.68304	GCC	-	pfam_Proline_DH		0.602	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH	protein_coding	OTTHUMT00000316637.2	G	NM_016335	-		18907073	-1	no_errors	ENST00000357068	ensembl	human	known	74_37	missense	SNP	0.997	A
ZNF83	55769	genome.wustl.edu	37	19	53117787	53117787	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr19:53117787G>T	ENST00000597597.1	-	2	2284	c.31C>A	c.(31-33)Cag>Aag	p.Q11K	ZNF83_ENST00000545872.1_Missense_Mutation_p.Q11K|ZNF83_ENST00000541777.2_Missense_Mutation_p.Q11K|ZNF83_ENST00000301096.3_Missense_Mutation_p.Q11K|ZNF83_ENST00000544146.1_Missense_Mutation_p.Q11K|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000536937.1_Missense_Mutation_p.Q11K|ZNF83_ENST00000391789.4_Missense_Mutation_p.Q11K|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000601257.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTAACAGGCTGCTTTTGTGCA	0.398																																																	0								ENSG00000167766						50.0	54.0	53.0					19																	53117787		2203	4300	6503	ZNF83	SO:0001583	missense	0			-	HGNC	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.31C>A	19.37:g.53117787G>T	ENSP00000472619:p.Gln11Lys	Somatic	0	74	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q11K	ENST00000597597.1	37	c.31	CCDS12854.1	19	.	.	.	.	.	.	.	.	.	.	N	0.004	-2.314457	0.00235	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.06933	3.26;3.26;3.26;3.26;3.26;3.24	2.25	-4.5	0.03493	.	.	.	.	.	T	0.00875	0.0029	N	0.00007	-3.165	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49133	-0.8971	9	0.39692	T	0.17	.	0.3076	0.00283	0.3417:0.2674:0.1735:0.2174	.	11;11	P51522-2;P51522	.;ZNF83_HUMAN	K	11	ENSP00000445993:Q11K;ENSP00000301096:Q11K;ENSP00000445470:Q11K;ENSP00000440713:Q11K;ENSP00000439681:Q11K;ENSP00000375666:Q11K	ENSP00000301096:Q11K	Q	-	1	0	ZNF83	57809599	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.024000	0.12435	-1.359000	0.02174	-2.451000	0.00208	CAG	-	NULL		0.398	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	protein_coding	OTTHUMT00000463700.1	G	NM_018300	-		53117787	-1	no_errors	ENST00000301096	ensembl	human	known	74_37	missense	SNP	0.000	T
MUC12	10071	genome.wustl.edu	37	7	100643155	100643155	+	Missense_Mutation	SNP	A	A	T	rs199601905	byFrequency	TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr7:100643155A>T	ENST00000379442.3	+	5	9740	c.9740A>T	c.(9739-9741)aAa>aTa	p.K3247I	MUC12_ENST00000536621.1_Missense_Mutation_p.K3104I			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3247	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CTGAGTGAGAAATCTACCACC	0.532																																																	0								ENSG00000205277						3.0	4.0	4.0					7																	100643155		642	1461	2103	MUC12	SO:0001583	missense	0			-	HGNC	AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.9740A>T	7.37:g.100643155A>T	ENSP00000368755:p.Lys3247Ile	Somatic	0	26	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SEA_dom	p.K3104I	ENST00000379442.3	37	c.9311		7	.	.	.	.	.	.	.	.	.	.	A	6.096	0.385972	0.11524	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13196	2.61;2.61	0.86	-1.72	0.08107	.	.	.	.	.	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.34775	-0.9815	7	0.38643	T	0.18	.	2.3687	0.04325	0.2892:0.3217:0.3891:0.0	.	.	.	.	I	3247;3104	ENSP00000368755:K3247I;ENSP00000441929:K3104I	ENSP00000368755:K3247I	K	+	2	0	MUC12	100429875	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.253000	0.02877	-0.939000	0.03709	0.155000	0.16302	AAA	-	NULL		0.532	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	protein_coding	OTTHUMT00000347234.1	A	XM_379904	rs199601905		100643155	+1	no_errors	ENST00000536621	ensembl	human	known	74_37	missense	SNP	0.000	T
DYNC2H1	79659	genome.wustl.edu	37	11	103173848	103173848	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr11:103173848C>G	ENST00000375735.2	+	76	11266	c.11122C>G	c.(11122-11124)Cta>Gta	p.L3708V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3715V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3708	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCCACTGCCTCTAAATCTCAA	0.308																																																	0								ENSG00000187240						53.0	47.0	49.0					11																	103173848		1800	4068	5868	DYNC2H1	SO:0001583	missense	0			-	HGNC	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11122C>G	11.37:g.103173848C>G	ENSP00000364887:p.Leu3708Val	Somatic	0	153	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	82	45.70	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3715V	ENST00000375735.2	37	c.11143	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746803	0.30955	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.09445	2.98;2.98	5.35	3.49	0.39957	Dynein heavy chain (1);	0.172959	0.39615	N	0.001303	T	0.15305	0.0369	M	0.69823	2.125	0.53688	D	0.999975	B;B	0.20164	0.042;0.034	B;B	0.28385	0.089;0.079	T	0.02464	-1.1155	10	0.32370	T	0.25	.	11.7772	0.51993	0.0:0.857:0.0:0.143	.	3708;3715	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	V	3708;3715	ENSP00000364887:L3708V;ENSP00000381167:L3715V	ENSP00000364887:L3708V	L	+	1	2	DYNC2H1	102679058	0.998000	0.40836	0.999000	0.59377	0.938000	0.57974	0.655000	0.24933	0.655000	0.30866	-0.136000	0.14681	CTA	-	pfam_Dynein_heavy_dom		0.308	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	C	XM_370652	-		103173848	+1	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	SNP	1.000	G
DYRK4	8798	genome.wustl.edu	37	12	4708298	4708298	+	Missense_Mutation	SNP	C	C	T	rs371159844		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr12:4708298C>T	ENST00000540757.2	+	7	825	c.665C>T	c.(664-666)tCg>tTg	p.S222L	DYRK4_ENST00000010132.5_Missense_Mutation_p.S222L|DYRK4_ENST00000543431.1_Missense_Mutation_p.S222L	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAGATGCTTTCGGTAGAGAAA	0.463																																																	0								ENSG00000010219	C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	139.0	127.0	131.0		665	4.2	0.9	12		131	0,8600		0,0,4300	no	missense	DYRK4	NM_003845.1	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	222/521	4708298	1,13005	2203	4300	6503	DYRK4	SO:0001583	missense	0			-	HGNC	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.665C>T	12.37:g.4708298C>T	ENSP00000441755:p.Ser222Leu	Somatic	0	72	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	12	72.09	A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S222L	ENST00000540757.2	37	c.665	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305885	0.23736	2.27E-4	0.0	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.29	4.15	0.48705	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.186823	0.47093	D	0.000242	T	0.43765	0.1262	N	0.21373	0.66	0.80722	D	1	B;B;B	0.31351	0.114;0.32;0.008	B;B;B	0.29524	0.024;0.103;0.046	T	0.36114	-0.9761	10	0.51188	T	0.08	.	6.7346	0.23403	0.7582:0.1627:0.0791:0.0	.	337;222;222	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	L	337;222;222;222	ENSP00000437534:S337L;ENSP00000441755:S222L;ENSP00000010132:S222L;ENSP00000439697:S222L	ENSP00000010132:S222L	S	+	2	0	DYRK4	4578559	1.000000	0.71417	0.950000	0.38849	0.508000	0.34012	4.249000	0.58766	0.856000	0.35383	-0.410000	0.06199	TCG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.463	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	protein_coding	OTTHUMT00000398780.2	C		-		4708298	+1	no_errors	ENST00000010132	ensembl	human	known	74_37	missense	SNP	0.998	T
PCDH11X	27328	genome.wustl.edu	37	X	91642819	91642819	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chrX:91642819G>A	ENST00000373094.1	+	5	4075	c.3230G>A	c.(3229-3231)aGc>aAc	p.S1077N	PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1077N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1040N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1040N|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1067N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1067N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1077					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GATGCAGGCAGCCTTACCAGC	0.562																																					NSCLC(38;925 1092 2571 38200 45895)												0								ENSG00000102290						173.0	132.0	146.0					X																	91642819		2201	4298	6499	PCDH11X	SO:0001583	missense	0			-	HGNC	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3230G>A	X.37:g.91642819G>A	ENSP00000362186:p.Ser1077Asn	Somatic	0	87	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	29	54.69	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1077N	ENST00000373094.1	37	c.3230	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664728	0.29604	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.63580	-0.05;0.04;-0.03;0.07;-0.0;-0.03	3.4	2.43	0.29744	.	0.000000	0.53938	U	0.000055	T	0.60586	0.2280	L	0.58810	1.83	0.23776	N	0.99687	P;P;P;P;P	0.48503	0.82;0.911;0.911;0.911;0.856	P;P;P;P;B	0.44990	0.466;0.466;0.466;0.466;0.276	T	0.59236	-0.7492	10	0.87932	D	0	.	12.6145	0.56569	0.0:0.1849:0.8151:0.0	.	1040;1067;1077;1067;1077	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	N	1077;1067;1040;1067;1077;1077;1040	ENSP00000362186:S1077N;ENSP00000362189:S1067N;ENSP00000362180:S1040N;ENSP00000355105:S1067N;ENSP00000384758:S1077N;ENSP00000298274:S1040N	ENSP00000298274:S1040N	S	+	2	0	PCDH11X	91529475	1.000000	0.71417	0.957000	0.39632	0.190000	0.23558	2.941000	0.49011	1.297000	0.44761	0.502000	0.49764	AGC	-	NULL		0.562	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	protein_coding	OTTHUMT00000057436.1	G	NM_032969	-		91642819	+1	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	SNP	0.862	A
PTPN18	26469	genome.wustl.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	GACGGG	GACGGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035																1	Deletion - In frame(1)	prostate(1)						ENSG00000072135		,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				PTPN18	SO:0001651	inframe_deletion	0				HGNC	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del	Somatic	NA	NA	NA		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B4E1E6|Q53P42	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.GT375in_frame_del	ENST00000175756.5	37	c.1113_1118	CCDS2161.1	2																																																																																			-	NULL		0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN18	protein_coding	OTTHUMT00000254523.2	GACGGG				131129934	+1	no_errors	ENST00000175756	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.000:0.000:0.002:0.005	-
RIPK4	54101	genome.wustl.edu	37	21	43161219	43161219	+	Missense_Mutation	SNP	C	C	T	rs199540981		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr21:43161219C>T	ENST00000352483.2	-	9	2342	c.2278G>A	c.(2278-2280)Gcc>Acc	p.A760T	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000332512.3_Missense_Mutation_p.A712T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A649T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A649T			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	760					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCCGTGGGCGGCAGCCAGG	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		16448	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000183421						54.0	61.0	58.0					21																	43161219		2203	4298	6501	RIPK4	SO:0001583	missense	0			GMAF=0.0005	HGNC	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2278G>A	21.37:g.43161219C>T	ENSP00000330161:p.Ala760Thr	Somatic	0	37	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	10	69.70	Q96KH0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A760T	ENST00000352483.2	37	c.2278		21	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.75	1.439558	0.25900	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.61	4.61	0.57282	.	0.137225	0.33650	N	0.004689	T	0.58652	0.2137	L	0.49350	1.555	0.09310	N	1	D	0.56287	0.975	P	0.46975	0.533	T	0.53165	-0.8477	10	0.22706	T	0.39	-28.7062	12.4094	0.55459	0.0:0.8305:0.1695:0.0	.	712	P57078-2	.	T	712;760;649;649	ENSP00000332454:A712T;ENSP00000330161:A760T;ENSP00000441754:A649T;ENSP00000442901:A649T	ENSP00000332454:A712T	A	-	1	0	RIPK4	42034288	0.576000	0.26700	0.140000	0.22221	0.193000	0.23685	2.352000	0.44080	2.116000	0.64780	0.650000	0.86243	GCC	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.687	RIPK4-201	KNOWN	basic	protein_coding	RIPK4	protein_coding		C	NM_020639	rs199540981		43161219	-1	no_errors	ENST00000352483	ensembl	human	known	74_37	missense	SNP	0.024	T
LAG3	3902	genome.wustl.edu	37	12	6882880	6882880	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr12:6882880delC	ENST00000203629.2	+	3	557	c.224delC	c.(223-225)gccfs	p.A75fs	LAG3_ENST00000441671.2_Frame_Shift_Del_p.A75fs	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	75	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCCGCTGCCGCCCCCGGCCAT	0.741																																																	0								ENSG00000089692						3.0	5.0	4.0					12																	6882880		1170	2425	3595	LAG3	SO:0001589	frameshift_variant	0				HGNC		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.224delC	12.37:g.6882880delC	ENSP00000203629:p.Ala75fs	Somatic	0	16	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	A8K7T9|Q7Z643	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	smart_Ig_sub,pfscan_Ig-like_dom	p.G77fs	ENST00000203629.2	37	c.224	CCDS8561.1	12																																																																																			-	smart_Ig_sub		0.741	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAG3	protein_coding	OTTHUMT00000402846.1	C				6882880	+1	no_errors	ENST00000203629	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
DNAH5	1767	genome.wustl.edu	37	5	13911598	13911598	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr5:13911598A>G	ENST00000265104.4	-	12	1645	c.1541T>C	c.(1540-1542)aTt>aCt	p.I514T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	514	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTTGCCACAATGCCCTGAAA	0.318									Kartagener syndrome																																								0								ENSG00000039139						93.0	93.0	93.0					5																	13911598		2202	4300	6502	DNAH5	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1541T>C	5.37:g.13911598A>G	ENSP00000265104:p.Ile514Thr	Somatic	0	111	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	135	45	75.00	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I514T	ENST00000265104.4	37	c.1541	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582887	0.46006	.	.	ENSG00000039139	ENST00000265104	T	0.56611	0.45	5.6	5.6	0.85130	Dynein heavy chain, domain-1 (1);	0.161531	0.53938	D	0.000051	T	0.52741	0.1753	M	0.66439	2.03	0.48135	D	0.999599	B	0.12630	0.006	B	0.27715	0.082	T	0.54377	-0.8303	10	0.59425	D	0.04	.	10.4439	0.44481	0.9271:0.0:0.0729:0.0	.	514	Q8TE73	DYH5_HUMAN	T	514	ENSP00000265104:I514T	ENSP00000265104:I514T	I	-	2	0	DNAH5	13964598	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.608000	0.74168	2.264000	0.75181	0.533000	0.62120	ATT	-	pfam_Dynein_heavy_dom-1		0.318	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	A	NM_001369	-		13911598	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	SNP	1.000	G
DOCK7	85440	genome.wustl.edu	37	1	62941168	62941169	+	Intron	INS	-	-	A	rs572869912|rs11330816|rs398073984|rs559508807|rs397716686|rs374950418|rs541259252	byFrequency	TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr1:62941168_62941169insA	ENST00000340370.5	-	46	5886				DOCK7_ENST00000489185.1_Intron|DOCK7_ENST00000251157.5_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7						activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATTCCTAAATGAAAAAAAAAAA	0.252																																																	0								ENSG00000116641																																			DOCK7	SO:0001627	intron_variant	0				HGNC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5869-146->T	1.37:g.62941179_62941179dupA		Somatic	0	24	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000340370.5	37	NULL	CCDS30734.1	1																																																																																			-	-		0.252	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	protein_coding	OTTHUMT00000036806.1	-	NM_033407			62941169	-1	no_errors	ENST00000467758	ensembl	human	known	74_37	rna	INS	0.000:0.000	A
OR5B3	441608	genome.wustl.edu	37	11	58170846	58170846	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr11:58170846G>C	ENST00000309403.2	-	1	36	c.37C>G	c.(37-39)Cta>Gta	p.L13V		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTTAGTCCTAGAAGAATGAAT	0.383																																																	0								ENSG00000172769						120.0	117.0	118.0					11																	58170846		2199	4285	6484	OR5B3	SO:0001583	missense	0			-	HGNC	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.37C>G	11.37:g.58170846G>C	ENSP00000308270:p.Leu13Val	Somatic	0	53	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	19	38.71	Q6IEV6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L13V	ENST00000309403.2	37	c.37	CCDS31549.1	11	.	.	.	.	.	.	.	.	.	.	g	1.884	-0.457218	0.04540	.	.	ENSG00000172769	ENST00000309403	T	0.00631	6.09	4.05	1.9	0.25705	.	0.000000	0.34067	N	0.004298	T	0.00695	0.0023	L	0.35723	1.085	0.09310	N	1	B	0.16802	0.019	B	0.19666	0.026	T	0.46289	-0.9202	10	0.17832	T	0.49	-4.3513	12.9589	0.58447	0.0:0.305:0.695:0.0	.	13	Q8NH48	OR5B3_HUMAN	V	13	ENSP00000308270:L13V	ENSP00000308270:L13V	L	-	1	2	OR5B3	57927422	0.000000	0.05858	0.243000	0.24186	0.496000	0.33645	-1.406000	0.02490	1.014000	0.39417	0.484000	0.47621	CTA	-	NULL		0.383	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B3	protein_coding	OTTHUMT00000394886.1	G	NM_001005469	-		58170846	-1	no_errors	ENST00000309403	ensembl	human	known	74_37	missense	SNP	0.029	C
LOC101927060	101927060	genome.wustl.edu	37	17	45177320	45177321	+	IGR	INS	-	-	CGGCCC	rs71354656|rs11283220|rs143602867	byFrequency	TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr17:45177320_45177321insCGGCCC								RP11-156P1.3 (32417 upstream) : CDC27 (17747 downstream)																							gcccccggccgcggccccggcc	0.757														2232	0.445687	0.2821	0.5245	5008	,	,		8276	0.2927		0.6441	False		,,,				2504	0.5644																0								ENSG00000262879																																			RP11-156P1.3	SO:0001628	intergenic_variant	0				Clone_based_vega_gene																													17.37:g.45177321_45177326dupCGGCCC		Somatic	NA	NA	NA		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL		37	NULL		17																																																																																			-	-	0	0.757					LOC101927060			-				45177321	-1	no_errors	ENST00000571665	ensembl	human	known	74_37	rna	INS	0.380:0.408	CGGCCC
ZDHHC8P1	150244	genome.wustl.edu	37	22	23742153	23742153	+	RNA	SNP	G	G	T			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr22:23742153G>T	ENST00000255890.4	-	0	1056									zinc finger, DHHC-type containing 8 pseudogene 1																		TAGGAGCTGGGAGCATCATAG	0.632																																																	0								ENSG00000133519						46.0	52.0	50.0					22																	23742153		692	1591	2283	ZDHHC8P1			0			-	HGNC			22q11.23	2010-02-25	2010-02-25	2010-02-25	ENSG00000133519	ENSG00000133519			26461	pseudogene	pseudogene			"""zinc finger, DHHC-type containing 8 pseudogene"""	ZDHHC8P			Standard	NR_003950		Approved	FLJ31568	uc002zwz.5		OTTHUMG00000150650		22.37:g.23742153G>T		Somatic	0	43	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	29	56.06		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000255890.4	37	NULL		22																																																																																			-	-		0.632	ZDHHC8P1-001	KNOWN	basic	processed_transcript	ZDHHC8P1	pseudogene	OTTHUMT00000319397.1	G	NR_003950	-		23742153	-1	no_errors	ENST00000255890	ensembl	human	known	74_37	rna	SNP	0.957	T
CENPH	64946	genome.wustl.edu	37	5	68490472	68490472	+	Splice_Site	SNP	A	A	C			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr5:68490472A>C	ENST00000283006.2	+	3	277		c.e3-1		CENPH_ENST00000515001.1_Splice_Site	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		ATTTATTTGCAGGTGAAGAAA	0.284																																																	0								ENSG00000153044						37.0	42.0	40.0					5																	68490472		2197	4298	6495	CENPH	SO:0001630	splice_region_variant	0			-	HGNC	AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.191-1A>C	5.37:g.68490472A>C		Somatic	0	142	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	62	66	48.44		Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e3-2	ENST00000283006.2	37	c.191-2	CCDS3998.1	5	.	.	.	.	.	.	.	.	.	.	A	11.86	1.763656	0.31228	.	.	ENSG00000153044	ENST00000283006;ENST00000515001;ENST00000502689	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1177	0.48270	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CENPH	68526228	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	4.152000	0.58111	2.194000	0.70268	0.482000	0.46254	.	-	-		0.284	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPH	protein_coding	OTTHUMT00000215083.1	A		-	Intron	68490472	+1	no_errors	ENST00000283006	ensembl	human	known	74_37	splice_site	SNP	1.000	C
SHROOM4	57477	genome.wustl.edu	37	X	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT	rs201922875|rs553160982		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ|SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0								ENSG00000158352			12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0.0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				SHROOM4	SO:0001652	inframe_insertion	0				HGNC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup	Somatic	NA	NA	NA		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.1129in_frame_insQQQQ	ENST00000289292.7	37	c.3384_3383	CCDS35277.1	X																																																																																			-	NULL		0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	-	NM_020717			50350759	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	TGCTGCTGCTGT
CHL1	10752	genome.wustl.edu	37	3	403486	403486	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr3:403486G>A	ENST00000256509.2	+	13	2053	c.1411G>A	c.(1411-1413)Gtg>Atg	p.V471M	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.V455M|CHL1-AS1_ENST00000608098.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.V471M(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGAGGCAGTCGTGTCCTGGTA	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000134121						176.0	161.0	166.0					3																	403486		2203	4300	6503	CHL1	SO:0001583	missense	0			-	HGNC	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1411G>A	3.37:g.403486G>A	ENSP00000256509:p.Val471Met	Somatic	0	82	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	35	52.70	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V471M	ENST00000256509.2	37	c.1411	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109991	0.56398	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.76968	-1.06;-1.06	5.06	3.93	0.45458	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.234344	0.37219	N	0.002188	D	0.88028	0.6327	M	0.88241	2.94	0.40075	D	0.976063	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.76071	0.987;0.987;0.918	D	0.89456	0.3733	10	0.87932	D	0	.	10.1345	0.42697	0.1355:0.0:0.8645:0.0	.	455;455;471	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	M	471;455	ENSP00000256509:V471M;ENSP00000380628:V455M	ENSP00000256509:V471M	V	+	1	0	CHL1	378486	0.944000	0.32072	0.941000	0.38009	0.691000	0.40173	2.202000	0.42743	2.490000	0.84030	0.563000	0.77884	GTG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.438	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	protein_coding	OTTHUMT00000207155.2	G	NM_006614	-		403486	+1	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	SNP	0.627	A
BRD7	29117	genome.wustl.edu	37	16	50402555	50402555	+	Intron	SNP	C	C	A			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr16:50402555C>A	ENST00000394688.3	-	1	209				BRD7_ENST00000401491.3_Intron|RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000394689.2_Intron			Q9NPI1	BRD7_HUMAN	bromodomain containing 7						cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GGGCCCCGGGCCGCCCCGGAG	0.781																																																	0								ENSG00000261393																																			RP11-21B23.1	SO:0001627	intron_variant	0			-	Clone_based_vega_gene	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.49+81G>T	16.37:g.50402555C>A		Somatic	0	26	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	4	73.68	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000394688.3	37	NULL	CCDS10742.1	16																																																																																			-	-		0.781	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000261393	protein_coding	OTTHUMT00000256874.3	C	NM_013263	-		50402555	+1	no_errors	ENST00000568427	ensembl	human	known	74_37	rna	SNP	0.005	A
SEC61A2	55176	genome.wustl.edu	37	10	12203044	12203044	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr10:12203044A>G	ENST00000298428.9	+	10	1180	c.1091A>G	c.(1090-1092)tAt>tGt	p.Y364C	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000304267.8_Missense_Mutation_p.Y364C|SEC61A2_ENST00000379020.4_Missense_Mutation_p.Y298C|SEC61A2_ENST00000379033.3_Missense_Mutation_p.Y342C	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	364					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)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GTCGTTGTTTATATCATCTTC	0.443																																																	0								ENSG00000065665						224.0	174.0	191.0					10																	12203044		2203	4300	6503	SEC61A2	SO:0001583	missense	0			-	HGNC	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.1091A>G	10.37:g.12203044A>G	ENSP00000298428:p.Tyr364Cys	Somatic	0	48	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	0	100.00	A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.Y364C	ENST00000298428.9	37	c.1091	CCDS7088.1	10	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043108	0.75732	.	.	ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000426560	.	.	.	5.54	5.54	0.83059	SecY subunit domain (2);	0.000000	0.64402	D	0.000011	D	0.90314	0.6970	H	0.98407	4.225	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.91635	0.994;0.999;0.999	D	0.93886	0.7175	9	0.87932	D	0	-8.1598	15.1606	0.72782	1.0:0.0:0.0:0.0	.	342;364;364	F8W773;Q9H9S3-2;Q9H9S3	.;.;S61A2_HUMAN	C	342;364;364;298;112	.	ENSP00000298428:Y364C	Y	+	2	0	SEC61A2	12243050	1.000000	0.71417	0.983000	0.44433	0.753000	0.42808	9.287000	0.95975	2.230000	0.72887	0.528000	0.53228	TAT	-	pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha		0.443	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	protein_coding	OTTHUMT00000046795.1	A	NM_018144	-		12203044	+1	no_errors	ENST00000298428	ensembl	human	known	74_37	missense	SNP	1.000	G
TIMP2	7077	genome.wustl.edu	37	17	76867051	76867051	+	Missense_Mutation	SNP	T	T	C	rs374979973		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr17:76867051T>C	ENST00000262768.7	-	3	567	c.269A>G	c.(268-270)tAc>tGc	p.Y90C	TIMP2_ENST00000536189.2_Missense_Mutation_p.Y13C|TIMP2_ENST00000586057.1_Missense_Mutation_p.Y13C|TIMP2_ENST00000585421.1_Missense_Mutation_p.Y13C	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	90	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GGGGGCCGTGTAGATAAACTC	0.532																																																	0								ENSG00000035862						106.0	100.0	102.0					17																	76867051		2203	4300	6503	TIMP2	SO:0001583	missense	0			-	HGNC		CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"""tissue inhibitor of metalloproteinase 2"""			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.269A>G	17.37:g.76867051T>C	ENSP00000262768:p.Tyr90Cys	Somatic	0	57	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	23	61.67	Q16121|Q93006|Q9UDF7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.Y90C	ENST00000262768.7	37	c.269	CCDS11758.1	17	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210619	0.58343	.	.	ENSG00000035862	ENST00000262768;ENST00000536189	D;D	0.93859	-3.3;-3.3	4.88	2.43	0.29744	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.215756	0.41001	D	0.000963	D	0.95912	0.8669	M	0.87456	2.885	0.33159	D	0.546782	D	0.89917	1.0	D	0.71414	0.973	D	0.95361	0.8455	10	0.87932	D	0	.	6.814	0.23820	0.1502:0.0:0.1563:0.6935	.	90	P16035	TIMP2_HUMAN	C	90;13	ENSP00000262768:Y90C;ENSP00000441724:Y13C	ENSP00000262768:Y90C	Y	-	2	0	TIMP2	74378646	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	0.571000	0.23669	0.686000	0.31488	0.358000	0.22013	TAC	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain		0.532	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP2	protein_coding	OTTHUMT00000335662.1	T	NM_003255	-		76867051	-1	no_errors	ENST00000262768	ensembl	human	known	74_37	missense	SNP	1.000	C
PORCN	64840	genome.wustl.edu	37	X	48372971	48372971	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chrX:48372971G>T	ENST00000326194.6	+	9	947	c.904G>T	c.(904-906)Gtc>Ttc	p.V302F	PORCN_ENST00000355092.3_Missense_Mutation_p.V296F|PORCN_ENST00000355961.4_Missense_Mutation_p.V297F|PORCN_ENST00000367574.4_Missense_Mutation_p.V220F|PORCN_ENST00000537758.1_Missense_Mutation_p.V302F|PORCN_ENST00000359882.4_Missense_Mutation_p.V296F|PORCN_ENST00000361988.3_Missense_Mutation_p.V291F	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	302					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTGGAAGTTGTCACAAGCTG	0.502																																																	0								ENSG00000102312						120.0	83.0	96.0					X																	48372971		2203	4300	6503	PORCN	SO:0001583	missense	0			-	HGNC	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.904G>T	X.37:g.48372971G>T	ENSP00000322304:p.Val302Phe	Somatic	0	110	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	75	34.78	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MBOAT_fam	p.V302F	ENST00000326194.6	37	c.904	CCDS14299.1	X	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741158	0.89573	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.87951	0.6307	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0	D	0.89949	0.4078	10	0.87932	D	0	-20.4692	15.8854	0.79244	0.0:0.0:1.0:0.0	.	296;302;220;291;297	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	F	296;302;220;297;291;302;296	ENSP00000352946:V296F;ENSP00000446401:V302F;ENSP00000356546:V220F;ENSP00000348233:V297F;ENSP00000354978:V291F;ENSP00000322304:V302F;ENSP00000347207:V296F	ENSP00000322304:V302F	V	+	1	0	PORCN	48257915	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.023000	0.93683	2.350000	0.79820	0.529000	0.55759	GTC	-	pfam_MBOAT_fam		0.502	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	protein_coding	OTTHUMT00000356990.1	G	NM_022825	-		48372971	+1	no_errors	ENST00000326194	ensembl	human	known	74_37	missense	SNP	1.000	T
CMC1	152100	genome.wustl.edu	37	3	28364646	28364646	+	3'UTR	SNP	G	G	T			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr3:28364646G>T	ENST00000466830.1	+	0	4046				AZI2_ENST00000479665.1_3'UTR|AZI2_ENST00000295748.3_5'UTR	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1							mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)	5						CAATTTAGAAGCTGCTCTACA	0.313																																																	0								ENSG00000163512																																			AZI2	SO:0001624	3_prime_UTR_variant	0			-	HGNC	BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"""chromosome 3 open reading frame 68"", ""COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"""	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.*3526G>T	3.37:g.28364646G>T		Somatic	0	23	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	45.00	Q68DJ7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000466830.1	37	NULL	CCDS33722.1	3																																																																																			-	-		0.313	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	protein_coding	OTTHUMT00000341087.1	G	NM_182523	-		28364646	-1	no_errors	ENST00000295748	ensembl	human	known	74_37	rna	SNP	0.517	T
SYT16	83851	genome.wustl.edu	37	14	62542040	62542040	+	Silent	SNP	G	G	A			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr14:62542040G>A	ENST00000430451.2	+	3	1121	c.924G>A	c.(922-924)gaG>gaA	p.E308E	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Silent_p.E308E	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	308					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGAGATGGAGACAGCTTTTA	0.502																																																	0								ENSG00000139973						114.0	115.0	114.0					14																	62542040		1956	4145	6101	SYT16	SO:0001819	synonymous_variant	0			-	HGNC	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.924G>A	14.37:g.62542040G>A		Somatic	0	35	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	28	41.67	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.E308	ENST00000430451.2	37	c.924	CCDS45121.1	14																																																																																			-	NULL		0.502	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	protein_coding	OTTHUMT00000411700.1	G	NM_031914	-		62542040	+1	no_errors	ENST00000446982	ensembl	human	known	74_37	silent	SNP	0.982	A
GAB1	2549	genome.wustl.edu	37	4	144346345	144346345	+	Intron	SNP	T	T	A			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr4:144346345T>A	ENST00000262994.4	+	3	669				RP11-58H15.1_ENST00000494591.1_RNA|GAB1_ENST00000505913.1_Intron|GAB1_ENST00000262995.4_Intron	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1						activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GCATCTACATTATAAATCTGA	0.453																																																	0								ENSG00000243175																																			RP11-58H15.1	SO:0001627	intron_variant	0			-	Clone_based_vega_gene	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.368-8299T>A	4.37:g.144346345T>A		Somatic	0	25	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	13	55.17	A8K152|Q4W5G2|Q6P1W2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000262994.4	37	NULL	CCDS3759.1	4																																																																																			-	-		0.453	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000243175	protein_coding	OTTHUMT00000364998.1	T	NM_002039	-		144346345	+1	no_errors	ENST00000494591	ensembl	human	known	74_37	rna	SNP	1.000	A
CEP290	80184	genome.wustl.edu	37	12	88457822	88457822	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr12:88457822G>A	ENST00000552810.1	-	45	6549	c.6206C>T	c.(6205-6207)tCa>tTa	p.S2069L	CEP290_ENST00000547691.2_Missense_Mutation_p.S1129L|CEP290_ENST00000397838.3_Missense_Mutation_p.S1129L|CEP290_ENST00000309041.7_Missense_Mutation_p.S2071L	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2069					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATTTTCAGATGACAACTTCAA	0.313																																																	0								ENSG00000198707						46.0	42.0	43.0					12																	88457822		1809	4064	5873	CEP290	SO:0001583	missense	0			-	HGNC	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.6206C>T	12.37:g.88457822G>A	ENSP00000448012:p.Ser2069Leu	Somatic	1	145	0.68		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	64	82	43.84	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S2071L	ENST00000552810.1	37	c.6212	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.129897	0.94473	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.66460	0.38;-0.21;-0.21;0.38	5.68	5.68	0.88126	.	0.128054	0.53938	D	0.000044	T	0.76133	0.3945	M	0.65975	2.015	0.50039	D	0.999846	D	0.56968	0.978	P	0.53954	0.738	T	0.72880	-0.4158	10	0.30854	T	0.27	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	2069	O15078	CE290_HUMAN	L	1129;2069;2071;1129	ENSP00000446905:S1129L;ENSP00000448012:S2069L;ENSP00000308021:S2071L;ENSP00000380938:S1129L	ENSP00000308021:S2071L	S	-	2	0	CEP290	86981953	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.084000	0.94076	2.683000	0.91414	0.555000	0.69702	TCA	-	NULL		0.313	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	protein_coding	OTTHUMT00000406344.1	G	NM_025114	-		88457822	-1	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	SNP	1.000	A
GOLM1	51280	genome.wustl.edu	37	9	88650294	88650294	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr9:88650294G>C	ENST00000388712.3	-	8	1172	c.1004C>G	c.(1003-1005)gCt>gGt	p.A335G	GOLM1_ENST00000388711.3_Missense_Mutation_p.A335G|GOLM1_ENST00000257504.6_5'Flank	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	335					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TTCCCCGGCAGCTTCCTGCTC	0.622											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000135052						56.0	64.0	62.0					9																	88650294		2203	4300	6503	GOLM1	SO:0001583	missense	0			-	HGNC	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.1004C>G	9.37:g.88650294G>C	ENSP00000373364:p.Ala335Gly	Somatic	0	58	0.00	1261	0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	31	43.64	Q6IAF4|Q9NRB9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A335G	ENST00000388712.3	37	c.1004	CCDS35054.1	9	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218386	0.39201	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.47869	0.83;0.83	4.13	2.11	0.27256	.	1.256360	0.05284	N	0.519803	T	0.40067	0.1102	L	0.50333	1.59	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.22765	-1.0207	10	0.21540	T	0.41	-5.916	5.3166	0.15858	0.1137:0.2076:0.6787:0.0	.	335	Q8NBJ4	GOLM1_HUMAN	G	335	ENSP00000373364:A335G;ENSP00000373363:A335G	ENSP00000373363:A335G	A	-	2	0	GOLM1	87840114	0.003000	0.15002	0.003000	0.11579	0.298000	0.27526	1.304000	0.33482	1.105000	0.41606	0.456000	0.33151	GCT	-	NULL		0.622	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	protein_coding	OTTHUMT00000052904.2	G	NM_177937	-		88650294	-1	no_errors	ENST00000388711	ensembl	human	known	74_37	missense	SNP	0.001	C
PROX1	5629	genome.wustl.edu	37	1	214203529	214203529	+	Intron	DEL	A	A	-	rs553624240		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr1:214203529delA	ENST00000366958.4	+	5	2636				RP11-53A1.2_ENST00000607258.1_RNA|PROX1_ENST00000261454.4_Intron|PROX1_ENST00000498508.2_Intron|PROX1_ENST00000435016.1_Intron	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1						aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTTATAGTATAAAAAAAAATG	0.408																																																	0								ENSG00000272167																																			RP11-53A1.2	SO:0001627	intron_variant	0				Clone_based_vega_gene	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.2029-5463A>-	1.37:g.214203529delA		Somatic	0	38	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	A6NK29|A8K2B1|Q5SW76|Q8TB91	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000366958.4	37	NULL	CCDS31021.1	1																																																																																			-	-		0.408	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000272167	protein_coding	OTTHUMT00000089727.6	A	NM_002763			214203529	-1	no_errors	ENST00000607258	ensembl	human	known	74_37	rna	DEL	0.011	-
TP53	7157	genome.wustl.edu	37	17	7578242	7578242	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr17:7578242C>A	ENST00000269305.4	-	6	796	c.607G>T	c.(607-609)Gtg>Ttg	p.V203L	TP53_ENST00000359597.4_Missense_Mutation_p.V203L|TP53_ENST00000420246.2_Missense_Mutation_p.V203L|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V203L|TP53_ENST00000445888.2_Missense_Mutation_p.V203L|TP53_ENST00000413465.2_Missense_Mutation_p.V203L	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	203	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (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.0?(8)|p.?(5)|p.V203L(3)|p.V203fs*44(2)|p.V203M(2)|p.N200fs*4(1)|p.V203_E204>LV(1)|p.G199fs*42(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)	AAATACTCCACACGCAAATTT	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	23	Whole gene deletion(8)|Substitution - Missense(5)|Unknown(5)|Deletion - Frameshift(4)|Complex - compound substitution(1)	biliary_tract(5)|oesophagus(4)|bone(4)|central_nervous_system(2)|lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|breast(1)|ovary(1)						ENSG00000141510						131.0	116.0	121.0					17																	7578242		2203	4300	6503	TP53	SO:0001583	missense	0	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;	-	HGNC	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.607G>T	17.37:g.7578242C>A	ENSP00000269305:p.Val203Leu	Somatic	0	69	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	37	49.32	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	NA	NA	NA	NA	NA	NA	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V203L	ENST00000269305.4	37	c.607	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695281	0.48202	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99758	-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65	5.41	3.39	0.38822	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110322	0.64402	D	0.000011	D	0.98779	0.9589	L	0.38175	1.15	0.29926	N	0.822297	B;B;B;B;B;B;B	0.27140	0.169;0.0;0.002;0.009;0.0;0.0;0.14	B;B;B;B;B;B;B	0.32762	0.152;0.002;0.014;0.003;0.002;0.002;0.051	D	0.99978	1.2320	10	0.87932	D	0	-2.4908	9.8126	0.40833	0.0:0.7818:0.1399:0.0784	.	164;203;203;110;203;203;203	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	203;203;203;203;203;203;192;110;71;110;71	ENSP00000410739:V203L;ENSP00000352610:V203L;ENSP00000269305:V203L;ENSP00000398846:V203L;ENSP00000391127:V203L;ENSP00000391478:V203L;ENSP00000425104:V71L;ENSP00000423862:V110L	ENSP00000269305:V203L	V	-	1	0	TP53	7518967	0.437000	0.25593	0.001000	0.08648	0.018000	0.09664	1.249000	0.32839	0.752000	0.32923	0.655000	0.94253	GTG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7578242	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.809	A
SNRNP40	9410	genome.wustl.edu	37	1	31766005	31766006	+	Intron	INS	-	-	A	rs112391814		TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr1:31766005_31766006insA	ENST00000263694.4	-	2	290				SNRNP40_ENST00000446633.2_Intron	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						ACCCAAGATTTAAAAAAAAAAA	0.401																																																	0								ENSG00000060688																																			SNRNP40	SO:0001627	intron_variant	0				HGNC	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.271+59->T	1.37:g.31766016_31766016dupA		Somatic	0	23	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	B4DQJ1|O75938|O95320	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000263694.4	37	NULL	CCDS340.1	1																																																																																			-	-		0.401	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	protein_coding	OTTHUMT00000010657.1	-	NM_004814			31766006	-1	no_errors	ENST00000463988	ensembl	human	known	74_37	rna	INS	0.441:0.422	A
TSTD3	100130890	genome.wustl.edu	37	6	99968898	99968899	+	RNA	INS	-	-	GCGCC			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr6:99968898_99968899insGCGCC	ENST00000452647.2	+	0	330_331							H0UI37	TSTD3_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 3																		GCCGGAGCAGGAGGAGAAGGAG	0.683											OREG0017579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000228439																																			TSTD3			0				HGNC			6q16.2	2012-07-04			ENSG00000228439	ENSG00000228439			40910	protein-coding gene	gene with protein product							Standard	NM_001195131		Approved		uc021zde.1	H0UI37	OTTHUMG00000015265		6.37:g.99968898_99968899insGCGCC		Somatic	NA	NA	NA	1347	0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000452647.2	37	NULL		6																																																																																			-	-		0.683	TSTD3-001	KNOWN	basic	antisense	TSTD3	antisense	OTTHUMT00000041605.2	-	NM_001195131			99968899	+1	no_errors	ENST00000452647	ensembl	human	known	74_37	rna	INS	0.000:0.000	GCGCC
RP11-2H3.6	0	genome.wustl.edu	37	4	410242	410242	+	lincRNA	SNP	G	G	C			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr4:410242G>C	ENST00000609771.1	-	0	84																											AAGAAATTTTGGTAGATAAAT	0.363																																																	0								ENSG00000272885						20.0	15.0	16.0					4																	410242		692	1584	2276	RP11-2H3.6			0			-	Clone_based_vega_gene																													4.37:g.410242G>C		Somatic	0	39	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000609771.1	37	NULL		4																																																																																			-	-		0.363	RP11-2H3.6-001	KNOWN	basic	lincRNA	ENSG00000272885	lincRNA	OTTHUMT00000472396.1	G		-		410242	-1	no_errors	ENST00000609771	ensembl	human	known	74_37	rna	SNP	0.245	C
PHACTR1	221692	genome.wustl.edu	37	6	12753947	12753947	+	Intron	SNP	T	T	C			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr6:12753947T>C	ENST00000379350.1	+	3	379				AL354680.1_ENST00000411359.1_RNA|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379348.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1						actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TTCACTGGTCTCTTTCACCCT	0.438																																																	0								ENSG00000223291																																			AL354680.1	SO:0001627	intron_variant	0			-	Clone_based_ensembl_gene	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.250+3925T>C	6.37:g.12753947T>C		Somatic	0	96	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	24	57.89	A8K1V2|Q3MJ93|Q5JSJ2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000379350.1	37	NULL		6																																																																																			-	-		0.438	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	ENSG00000223291	protein_coding	OTTHUMT00000039876.1	T	XM_166420	-		12753947	+1	no_errors	ENST00000411359	ensembl	human	novel	74_37	rna	SNP	0.038	C
ME3	10873	genome.wustl.edu	37	11	86209110	86209110	+	Nonsense_Mutation	SNP	G	G	T	rs35059554	byFrequency	TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr11:86209110G>T	ENST00000393324.3	-	5	853	c.600C>A	c.(598-600)taC>taA	p.Y200*	ME3_ENST00000323418.6_Nonsense_Mutation_p.Y138*|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Nonsense_Mutation_p.Y200*|ME3_ENST00000359636.2_Nonsense_Mutation_p.Y200*|ME3_ENST00000525957.1_5'UTR	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	200					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				TGCCCATGCCGTAGCAGCCCA	0.642																																																	0								ENSG00000151376						101.0	89.0	93.0					11																	86209110		2202	4299	6501	ME3	SO:0001587	stop_gained	0			-	HGNC	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.600C>A	11.37:g.86209110G>T	ENSP00000376998:p.Tyr200*	Somatic	0	21	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B7Z6V0|Q8TBJ0	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.Y200*	ENST00000393324.3	37	c.600	CCDS8277.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.850721	0.98525	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000545395;ENST00000323418	.	.	.	5.47	-6.24	0.02046	.	0.173767	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2439	0.73490	0.5233:0.0:0.4767:0.0	.	.	.	.	X	200;200;200;200;138;138	.	.	Y	-	3	2	ME3	85886758	0.000000	0.05858	0.782000	0.31804	0.960000	0.62799	-4.102000	0.00295	-1.202000	0.02655	-0.794000	0.03295	TAC	-	pfam_Malic_N,prints_Malic_OxRdtase		0.642	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME3	protein_coding	OTTHUMT00000393767.2	G		-		86209110	-1	no_errors	ENST00000359636	ensembl	human	known	74_37	nonsense	SNP	0.502	T
OR2J3	442186	genome.wustl.edu	37	6	29080103	29080103	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A7EN-01A-11D-A38Z-09	TCGA-DX-A7EN-11A-11D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a84adb8-cf08-4b90-87b1-f83b1bfd708d	80559ba7-da24-409e-83d1-cb19b30cd06f	g.chr6:29080103C>G	ENST00000377169.1	+	1	436	c.436C>G	c.(436-438)Ctg>Gtg	p.L146V		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTTCTGCCACCTGCTGGCTGT	0.512																																																	0								ENSG00000204701						350.0	373.0	365.0					6																	29080103		1385	2625	4010	OR2J3	SO:0001583	missense	0			-	HGNC		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.436C>G	6.37:g.29080103C>G	ENSP00000366374:p.Leu146Val	Somatic	0	54	0.00		0.7805096815665488	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	29	53.97	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L146V	ENST00000377169.1	37	c.436	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	C	3.296	-0.143811	0.06627	.	.	ENSG00000204701	ENST00000377169	T	0.00069	8.77	2.78	-3.44	0.04796	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	L	0.55103	1.725	0.09310	N	1	B	0.17852	0.024	B	0.29077	0.098	T	0.34354	-0.9832	9	0.17369	T	0.5	.	0.4174	0.00451	0.2991:0.3116:0.1473:0.2419	.	146	O76001	OR2J3_HUMAN	V	146	ENSP00000366374:L146V	ENSP00000366374:L146V	L	+	1	2	OR2J3	29188082	0.000000	0.05858	0.008000	0.14137	0.914000	0.54420	-1.425000	0.02446	-1.066000	0.03164	0.436000	0.28706	CTG	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.512	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	protein_coding	OTTHUMT00000076132.2	C		-		29080103	+1	no_errors	ENST00000377169	ensembl	human	known	74_37	missense	SNP	0.000	G
