#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656|rs397516437		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr17:7577547C>T	ENST00000269305.4	-	7	923	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000420246.2_Missense_Mutation_p.G245D|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)gGc>gAc	Other conserved DNA damage response genes	tumor protein p53							151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577547C>T	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.734G>A	17.37:g.7577547C>T	ENSP00000269305:p.Gly245Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D	p.G245D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.734G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838149	0.91117	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	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	0.99898	0.9951	M	0.91920	3.255	0.80722	A	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;1.0	D	0.96045	0.9027	9	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245D;ENSP00000352610:G245D;ENSP00000269305:G245D;ENSP00000398846:G245D;ENSP00000391127:G245D;ENSP00000391478:G245D;ENSP00000425104:G113D;ENSP00000423862:G152D	ENSP00000269305:G245D	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	28	0	0	0	0.624587	0	20	28				
VPS16	64601	broad.mit.edu	37	20	2843377	2843377	+	Intron	SNP	C	C	T	rs576613361	byFrequency	TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr20:2843377C>T	ENST00000380445.3	+	12	1275				VPS16_ENST00000380469.3_Intron|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380443.3_Silent_p.A62A|VPS16_ENST00000481812.2_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)						intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ATGGCCGGGCCGGGGAGGGTG	0.647													T|||	2	0.000399361	0.0015	0.0	5008	,	,		8423	0.0		0.0	False		,,,				2504	0.0					ENST00000380443.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(184-186)gcC>gcT		vacuolar protein sorting 16 homolog (S. cerevisiae)							16.0	22.0	20.0					20																	2843377		2151	4241	6392	SO:0001627	intron_variant	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2843377C>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1203+21C>T	20.37:g.2843377C>T						VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_Intron|VPS16_ENST00000380445.3_Intron	p.A62A			Q9H269	VPS16_HUMAN			1	275	+			401					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	ENST00000380445.3	37	c.186C>T	CCDS13036.1																																																																																				0.647	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		4	24	0	0	0	0.184627	0	4	24				
WDR3	10885	broad.mit.edu	37	1	118483783	118483783	+	Missense_Mutation	SNP	C	C	T	rs150881258		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr1:118483783C>T	ENST00000349139.5	+	8	873	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	276						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R276W(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTCCATAATGCGGGAAGGAAG	0.423																																						ENST00000349139.4																			1	Substitution - Missense(1)	p.R276W(1)	large_intestine(1)	breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(826-828)Cgg>Tgg		WD repeat domain 3		C	TRP/ARG	0,4406		0,0,2203	110.0	104.0	106.0		826	4.8	1.0	1	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense	WDR3	NM_006784.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	276/944	118483783	2,13004	2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118483783C>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.826C>T	1.37:g.118483783C>T	ENSP00000308179:p.Arg276Trp					WDR3_ENST00000369441.3_3'UTR	p.R276W	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	8	873	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	276						Missense_Mutation	SNP	ENST00000349139.5	37	c.826C>T	CCDS898.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192338	0.78902	0.0	2.33E-4	ENSG00000065183	ENST00000349139	D	0.81996	-1.56	5.7	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89248	0.6661	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91118	0.4927	10	0.87932	D	0	-14.1891	13.5282	0.61607	0.2836:0.7164:0.0:0.0	.	276	Q9UNX4	WDR3_HUMAN	W	276	ENSP00000308179:R276W	ENSP00000308179:R276W	R	+	1	2	WDR3	118285306	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.638000	0.37165	1.332000	0.45431	0.655000	0.94253	CGG		0.423	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		18	102	0	0	0	0.608945	0	18	102				
TBX22	50945	broad.mit.edu	37	X	79279563	79279563	+	Splice_Site	SNP	C	C	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:79279563C>T	ENST00000373294.5	+	3	386	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	TBX22_ENST00000373291.1_5'UTR|TBX22_ENST00000373296.3_Splice_Site_p.R120W|TBX22_ENST00000442340.1_5'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	120					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCTTACAGGCGGATGTTCCC	0.483																																						ENST00000373294.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65	GRCh37	CM054867	TBX22	M		c.e3-1		T-box 22							105.0	87.0	93.0					X																	79279563		2203	4300	6503	SO:0001630	splice_region_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79279563C>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.357-1C>T	X.37:g.79279563C>T						TBX22_ENST00000373291.1_5'UTR|TBX22_ENST00000373296.3_Splice_Site_p.R120_splice|TBX22_ENST00000442340.1_5'UTR	p.R120_splice	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN			3	386	+			120					Q5JZ06|Q96LC0|Q9HBF1	Splice_Site	SNP	ENST00000373294.5	37	c.356_splice	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295089	0.60086	.	.	ENSG00000122145	ENST00000373296;ENST00000373294	D;D	0.91351	-2.83;-2.83	4.71	1.66	0.24008	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.96163	0.8749	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95640	0.8697	10	0.87932	D	0	.	11.7981	0.52112	0.7044:0.2956:0.0:0.0	.	120	Q9Y458	TBX22_HUMAN	W	120	ENSP00000362393:R120W;ENSP00000362390:R120W	ENSP00000362390:R120W	R	+	1	2	TBX22	79166219	0.984000	0.35163	0.996000	0.52242	0.798000	0.45092	0.213000	0.17521	0.242000	0.21303	0.594000	0.82650	CGG		0.483	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954	Missense_Mutation	21	24	0	0	0	0.592651	0	21	24				
LGALS13	29124	broad.mit.edu	37	19	40095291	40095291	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:40095291T>A	ENST00000221797.4	+	2	110	c.65T>A	c.(64-66)aTc>aAc	p.I22N		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	22	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TGCGTGATAATCAAAGGGACA	0.473																																						ENST00000221797.4																			0				lung(5)|ovary(1)|urinary_tract(1)	7						c.(64-66)aTc>aAc		lectin, galactoside-binding, soluble, 13							188.0	160.0	170.0					19																	40095291		2203	4300	6503	SO:0001583	missense	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40095291T>A	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.65T>A	19.37:g.40095291T>A	ENSP00000221797:p.Ile22Asn						p.I22N	NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		2	110	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		22			Galectin.		C5HZ15	Missense_Mutation	SNP	ENST00000221797.4	37	c.65T>A	CCDS33024.1	.	.	.	.	.	.	.	.	.	.	.	10.71	1.425998	0.25726	.	.	ENSG00000105198	ENST00000221797	T	0.25912	1.77	0.817	0.817	0.18773	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.54727	0.1876	H	0.94345	3.525	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38693	-0.9649	9	0.87932	D	0	.	3.8905	0.09117	0.0:0.0:0.0:1.0	.	22	Q9UHV8	PP13_HUMAN	N	22	ENSP00000221797:I22N	ENSP00000221797:I22N	I	+	2	0	LGALS13	44787131	0.013000	0.17824	0.018000	0.16275	0.021000	0.10359	1.107000	0.31110	0.595000	0.29777	0.260000	0.18958	ATC		0.473	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		6	138	0	0	0	0.248553	0	6	138				
AURKC	6795	broad.mit.edu	37	19	57744018	57744018	+	Silent	SNP	C	C	T	rs141028635		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:57744018C>T	ENST00000302804.7	+	4	591	c.405C>T	c.(403-405)agC>agT	p.S135S	AURKC_ENST00000415300.2_Silent_p.S116S|AURKC_ENST00000448930.1_Silent_p.S101S|AURKC_ENST00000599062.1_Silent_p.S132S|AURKC_ENST00000598785.1_Silent_p.S101S	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGCAGAAAAGCGAGAAATTAG	0.537																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(403-405)agC>agT		aurora kinase C		C	,,	1,4405	2.1+/-5.4	0,1,2202	80.0	76.0	78.0		405,348,303	-2.5	0.0	19	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	AURKC	NM_001015878.1,NM_001015879.1,NM_003160.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	135/310,116/291,101/276	57744018	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57744018C>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.405C>T	19.37:g.57744018C>T						AURKC_ENST00000448930.1_Silent_p.S101S|AURKC_ENST00000415300.2_Silent_p.S116S|AURKC_ENST00000599062.1_Silent_p.S132S|AURKC_ENST00000598785.1_Silent_p.S101S	p.S135S	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	4	591	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	135			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP	ENST00000302804.7	37	c.405C>T	CCDS33128.1																																																																																				0.537	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		7	83	0	0	0	0.278610	0	7	83				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	68	0	0	0	0.520397	0	17	68				
C11orf68	83638	broad.mit.edu	37	11	65685203	65685203	+	Missense_Mutation	SNP	G	G	T	rs200154760		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:65685203G>T	ENST00000530188.1	-	1	628	c.483C>A	c.(481-483)agC>agA	p.S161R	DRAP1_ENST00000312515.2_5'Flank|DRAP1_ENST00000532933.1_5'Flank|DRAP1_ENST00000527119.1_5'Flank|C11orf68_ENST00000449692.3_Missense_Mutation_p.S202R|C11orf68_ENST00000438576.2_Missense_Mutation_p.S203R|DRAP1_ENST00000376991.2_5'Flank			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	161							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		TGGCACGTGGGCTCACCTTGG	0.632																																						ENST00000438576.2																			0				large_intestine(1)|lung(3)	4						c.(607-609)agC>agA		chromosome 11 open reading frame 68							43.0	41.0	42.0					11																	65685203		2201	4296	6497	SO:0001583	missense	83638							g.chr11:65685203G>T	AF073483	CCDS8122.2, CCDS44652.1	11q13.1	2012-08-09			ENSG00000175573	ENSG00000175573			28801	protein-coding gene	gene with protein product	"""basophilic leukemia-expressed protein"""					16511166	Standard	NM_031450		Approved	P5326, BLES03	uc001ogi.3	Q9H3H3	OTTHUMG00000157153	ENST00000530188.1:c.483C>A	11.37:g.65685203G>T	ENSP00000433914:p.Ser161Arg					C11orf68_ENST00000530188.1_Missense_Mutation_p.S161R|C11orf68_ENST00000449692.3_Missense_Mutation_p.S202R	p.S203R			Q9H3H3	CK068_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	2	694	-			161					J3KQG9|Q9BT13	Missense_Mutation	SNP	ENST00000530188.1	37	c.609C>A		.	.	.	.	.	.	.	.	.	.	G	27.0	4.789930	0.90367	.	.	ENSG00000175573	ENST00000438576;ENST00000449692;ENST00000530188	T;T;T	0.49139	0.79;0.79;0.79	4.72	4.72	0.59763	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75156	-0.3417	10	0.72032	D	0.01	-26.9464	15.5889	0.76510	0.0:0.0:1.0:0.0	.	202;161	Q9H3H3-2;Q9H3H3	.;CK068_HUMAN	R	203;202;161	ENSP00000398350:S203R;ENSP00000409681:S202R;ENSP00000433914:S161R	ENSP00000398350:S203R	S	-	3	2	C11orf68	65441779	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.400000	0.66320	2.345000	0.79718	0.462000	0.41574	AGC		0.632	C11orf68-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391173.1	NM_031450		4	65	1	0	0.150653	0.150653	0.15424	4	65				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A								NR_024251.1						0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		4	112	0	0	0	0.184627	0	4	112				
OR51V1	283111	broad.mit.edu	37	11	5221701	5221701	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:5221701A>G	ENST00000321255.1	-	1	229	c.230T>C	c.(229-231)cTc>cCc	p.L77P		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	77					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGTCAGTGAGGGCCAGCAT	0.537																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(229-231)cTc>cCc		olfactory receptor, family 51, subfamily V, member 1							101.0	84.0	90.0					11																	5221701		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221701A>G	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.230T>C	11.37:g.5221701A>G	ENSP00000321729:p.Leu77Pro						p.L77P	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	229	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	77						Missense_Mutation	SNP	ENST00000321255.1	37	c.230T>C	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.769091	0.31320	.	.	ENSG00000176742	ENST00000321255	T	0.00558	6.61	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	1.366140	0.05158	N	0.497283	T	0.03608	0.0103	M	0.93375	3.41	0.42816	D	0.993971	D	0.60160	0.987	P	0.62885	0.908	T	0.06588	-1.0818	10	0.72032	D	0.01	.	9.427	0.38586	0.9171:0.0:0.0829:0.0	.	77	Q9H2C8	O51V1_HUMAN	P	77	ENSP00000321729:L77P	ENSP00000321729:L77P	L	-	2	0	OR51V1	5178277	0.025000	0.19082	0.985000	0.45067	0.100000	0.18952	3.084000	0.50143	2.235000	0.73313	0.528000	0.53228	CTC		0.537	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		6	66	0	0	0	0.278610	0	6	66				
PRDM11	56981	broad.mit.edu	37	11	45245878	45245878	+	Missense_Mutation	SNP	C	C	T	rs554343280		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:45245878C>T	ENST00000530656.1	+	7	955	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.R285C|PRDM11_ENST00000263765.4_Missense_Mutation_p.R319C|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	319							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCCCTACAAGCGTGGCTTTGA	0.507																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(955-957)Cgt>Tgt		PR domain containing 11							132.0	142.0	138.0					11																	45245878		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45245878C>T	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.955C>T	11.37:g.45245878C>T	ENSP00000435976:p.Arg319Cys					CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.R285C|PRDM11_ENST00000530656.1_Missense_Mutation_p.R319C|PRDM11_ENST00000528980.1_Intron	p.R319C			Q9NQV5	PRD11_HUMAN			8	1204	+			319					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.955C>T		.	.	.	.	.	.	.	.	.	.	C	20.3	3.961348	0.74016	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.52983	0.64;0.64;0.64	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000011	T	0.54382	0.1855	N	0.24115	0.695	0.48632	D	0.999681	D	0.89917	1.0	D	0.70016	0.967	T	0.58278	-0.7664	10	0.87932	D	0	-15.4774	14.4063	0.67083	0.1475:0.8524:0.0:0.0	.	319	Q9NQV5	PRD11_HUMAN	C	319;319;285	ENSP00000263765:R319C;ENSP00000435976:R319C;ENSP00000394314:R285C	ENSP00000263765:R319C	R	+	1	0	PRDM11	45202454	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.103000	0.64578	2.637000	0.89404	0.650000	0.86243	CGT		0.507	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		17	274	0	0	0	0.520397	0	17	274				
PCDHA11	56138	broad.mit.edu	37	5	140248828	140248828	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr5:140248828G>A	ENST00000398640.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.642																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(139-141)cGc>cAc									58.0	69.0	66.0					5																	140248828		2203	4300	6503	SO:0001583	missense	0							g.chr5:140248828G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.140G>A	5.37:g.140248828G>A	ENSP00000381636:p.Arg47His					PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	p.R47H	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	140	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.140G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985516	0.74589	.	.	ENSG00000249158	ENST00000398640	T	0.27256	1.68	5.59	5.59	0.84812	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.37210	0.0995	L	0.55213	1.73	0.30173	N	0.801147	P;D	0.54207	0.609;0.965	B;P	0.49853	0.185;0.624	T	0.30297	-0.9983	9	0.59425	D	0.04	.	16.584	0.84723	0.0:0.13:0.87:0.0	.	47;47	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	47	ENSP00000381636:R47H	ENSP00000381636:R47H	R	+	2	0	PCDHA11	140229012	0.016000	0.18221	1.000000	0.80357	0.993000	0.82548	2.196000	0.42686	2.628000	0.89032	0.655000	0.94253	CGC		0.642	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		4	128	0	0	0	0.150653	0	4	128				
ALMS1	7840	broad.mit.edu	37	2	73800143	73800143	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:73800143G>C	ENST00000264448.6	+	16	11247	c.11136G>C	c.(11134-11136)caG>caC	p.Q3712H	ALMS1_ENST00000409009.1_Missense_Mutation_p.Q3670H	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3712					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAATTGAACAGATTAAATTTG	0.373																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(11134-11136)caG>caC		Alstrom syndrome 1							39.0	39.0	39.0					2																	73800143		1807	4063	5870	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73800143G>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11136G>C	2.37:g.73800143G>C	ENSP00000264448:p.Gln3712His					ALMS1_ENST00000409009.1_Missense_Mutation_p.Q3670H	p.Q3712H	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			16	11247	+			3712					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.11136G>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793273	0.31685	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.07567	3.18;3.18	4.63	2.77	0.32553	.	0.334537	0.22019	N	0.065754	T	0.08758	0.0217	L	0.46157	1.445	0.80722	D	1	B;B;B	0.27679	0.05;0.05;0.185	B;B;B	0.29716	0.038;0.038;0.106	T	0.11916	-1.0568	10	0.72032	D	0.01	.	7.6971	0.28600	0.0886:0.0:0.7491:0.1623	.	3712;3670;3712	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	H	3670;3712	ENSP00000386627:Q3670H;ENSP00000264448:Q3712H	ENSP00000264448:Q3712H	Q	+	3	2	ALMS1	73653651	0.995000	0.38212	0.998000	0.56505	0.993000	0.82548	1.497000	0.35649	0.656000	0.30886	0.655000	0.94253	CAG		0.373	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		16	83	0	0	0	0.520397	0	16	83				
MT-ND5	4540	broad.mit.edu	37	M	13463	13463	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrM:13463G>A	ENST00000361567.2	+	1	1127	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	376					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CCTCACCATTGGCAGCCTAGC	0.453																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1126-1128)gGc>gAc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13463G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1127G>A	M.37:g.13463G>A	ENSP00000354813:p.Gly376Asp						p.G376D			P03915	NU5M_HUMAN			1	1127	+			376					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.1127G>A																																																																																					0.453	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		45	22	0	0	0	0.870114	0	45	22				
XIRP2	129446	broad.mit.edu	37	2	168110545	168110545	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:168110545C>G	ENST00000409728.1	+	10	1368	c.1279C>G	c.(1279-1281)Ctg>Gtg	p.L427V	XIRP2_ENST00000409043.1_Missense_Mutation_p.L394V|XIRP2_ENST00000409756.2_Missense_Mutation_p.L394V|XIRP2_ENST00000409273.1_Missense_Mutation_p.A3298G|XIRP2_ENST00000295237.9_Missense_Mutation_p.A3520G|XIRP2_ENST00000409195.1_Missense_Mutation_p.A3520G|XIRP2_ENST00000420519.1_Missense_Mutation_p.L427V|XIRP2_ENST00000409605.1_Missense_Mutation_p.L172V	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTTTAGAAGCTGCTGCTCCA	0.343																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(10558-10560)gCt>gGt		xin actin-binding repeat containing 2							67.0	64.0	65.0					2																	168110545		1820	4086	5906	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168110545C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1279C>G	2.37:g.168110545C>G	ENSP00000386619:p.Leu427Val					XIRP2_ENST00000409605.1_Missense_Mutation_p.L172V|XIRP2_ENST00000409728.1_Missense_Mutation_p.L427V|XIRP2_ENST00000295237.9_Missense_Mutation_p.A3520G|XIRP2_ENST00000409273.1_Missense_Mutation_p.A3298G|XIRP2_ENST00000409756.2_Missense_Mutation_p.L394V|XIRP2_ENST00000409043.1_Missense_Mutation_p.L394V|XIRP2_ENST00000420519.1_Missense_Mutation_p.L427V	p.A3520G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			10	10648	+			3345					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.10559C>G	CCDS56143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.67|11.67	1.707085|1.707085	0.30232|0.30232	.|.	.|.	ENSG00000163092|ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534|ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T|T;T;T;T;T	0.02656|0.77489	4.21;4.21;4.21|-1.09;-1.09;-1.09;-1.09;-1.1	5.69|5.69	4.79|4.79	0.61399|0.61399	.|.	0.282739|.	0.25777|.	N|.	0.028368|.	T|T	0.73992|0.73992	0.3658|0.3658	.|.	.|.	.|.	0.28963|0.28963	N|N	0.889722|0.889722	B;B|P;P	0.02656|0.47545	0.0;0.0|0.897;0.897	B;B|B;B	0.04013|0.41440	0.0;0.001|0.357;0.357	T|T	0.71017|0.71017	-0.4714|-0.4714	9|8	0.51188|0.62326	T|D	0.08|0.03	7.6785|7.6785	13.594|13.594	0.61978|0.61978	0.2823:0.7177:0.0:0.0|0.2823:0.7177:0.0:0.0	.|.	3345;3298|394;427	A4UGR9;A4UGR9-2|A4UGR9-4;A4UGR9-6	XIRP2_HUMAN;.|.;.	G|V	3520;3520;3298;934|394;427;394;427;172	ENSP00000386840:A3520G;ENSP00000295237:A3520G;ENSP00000387255:A3298G|ENSP00000386454:L394V;ENSP00000386619:L427V;ENSP00000386724:L394V;ENSP00000415541:L427V;ENSP00000386981:L172V	ENSP00000295237:A3520G|ENSP00000386454:L394V	A|L	+|+	2|1	0|2	XIRP2|XIRP2	167818791|167818791	0.998000|0.998000	0.40836|0.40836	0.671000|0.671000	0.29857|0.29857	0.893000|0.893000	0.52053|0.52053	1.277000|1.277000	0.33167|0.33167	1.368000|1.368000	0.46115|0.46115	0.563000|0.563000	0.77884|0.77884	GCT|CTG		0.343	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		16	97	0	0	0	0.520397	0	16	97				
ZNF582	147948	broad.mit.edu	37	19	56901871	56901871	+	Splice_Site	SNP	C	C	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:56901871C>T	ENST00000301310.4	-	3	168		c.e3-1		ZNF582_ENST00000586929.1_Splice_Site|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ATTCTGACCCCTGGAATGACA	0.488																																					Ovarian(183;1887 2032 4349 30507 51343)	ENST00000301310.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.e3-1		zinc finger protein 582							108.0	96.0	100.0					19																	56901871		2203	4300	6503	SO:0001630	splice_region_variant	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56901871C>T	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.10-1G>A	19.37:g.56901871C>T						ZNF582_ENST00000586929.1_Splice_Site		NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	3	168	-		Colorectal(82;0.000256)|Ovarian(87;0.243)						B4DQZ9|B7Z9R3|Q6PJT6	Splice_Site	SNP	ENST00000301310.4	37		CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817620	0.50633	.	.	ENSG00000018869	ENST00000301310	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5332	0.87819	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF582	61593683	1.000000	0.71417	0.969000	0.41365	0.565000	0.35776	5.152000	0.64882	2.735000	0.93741	0.655000	0.94253	.		0.488	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690	Intron	4	110	0	0	0	0.150653	0	4	110				
GMCL1	64395	broad.mit.edu	37	2	70092031	70092031	+	Splice_Site	SNP	G	G	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:70092031G>T	ENST00000282570.3	+	11	1393		c.e11-1			NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TATATTTTTAGGCCTCAAGAA	0.318																																						ENST00000282570.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						c.e11-1		germ cell-less, spermatogenesis associated 1							82.0	86.0	85.0					2																	70092031		2203	4300	6503	SO:0001630	splice_region_variant	64395				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix		g.chr2:70092031G>T	AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.1143-1G>T	2.37:g.70092031G>T								NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN			11	1393	+								Q9H826|Q9H8V7|Q9H927	Splice_Site	SNP	ENST00000282570.3	37		CCDS1895.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925951	0.73327	.	.	ENSG00000087338	ENST00000282570	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4852	0.61361	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GMCL1	69945535	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.464000	0.90380	2.647000	0.89833	0.585000	0.79938	.		0.318	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439	Intron	3	61	1	0	0.150653	0.150653	0.15424	3	61				
RBP3	5949	broad.mit.edu	37	10	48390167	48390167	+	Silent	SNP	G	G	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr10:48390167G>A	ENST00000224600.4	-	1	824	c.711C>T	c.(709-711)ggC>ggT	p.G237G	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	237	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.G237G(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTCGGCCACGCCCCTGGTCT	0.657																																						ENST00000224600.4																			1	Substitution - coding silent(1)	p.G237G(1)	large_intestine(1)	central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(709-711)ggC>ggT		retinol binding protein 3, interstitial	Vitamin A(DB00162)						72.0	63.0	67.0					10																	48390167		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390167G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.711C>T	10.37:g.48390167G>A							p.G237G	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	824	-			237			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.711C>T	CCDS7218.1																																																																																				0.657	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		25	64	0	0	0	0.639603	0	25	64				
HERC2P3	283755	broad.mit.edu	37	15	20658903	20658903	+	RNA	SNP	T	T	C			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr15:20658903T>C	ENST00000428453.1	-	0	1963							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AATAAGTCTTTGCCATCCACA	0.368																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															40.0	45.0	43.0					15																	20658903		2133	4218	6351			0							g.chr15:20658903T>C	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20658903T>C														0	1963	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.368	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		6	143	0	0	0	0.387290	0	6	143				
TNNT3	7140	broad.mit.edu	37	11	1956135	1956135	+	Missense_Mutation	SNP	C	C	T	rs367658497		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:1956135C>T	ENST00000397301.1	+	15	708	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	TNNT3_ENST00000397304.2_Missense_Mutation_p.R204C|TNNT3_ENST00000446240.1_Missense_Mutation_p.R204C|TNNT3_ENST00000381561.4_Missense_Mutation_p.R226C|TNNT3_ENST00000381579.3_Missense_Mutation_p.R215C|TNNT3_ENST00000360603.3_Missense_Mutation_p.R217C|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381558.1_Missense_Mutation_p.R215C|TNNT3_ENST00000381548.3_Missense_Mutation_p.R225C|TNNT3_ENST00000278317.6_Missense_Mutation_p.R223C|TNNT3_ENST00000381549.3_Missense_Mutation_p.R215C|TNNT3_ENST00000381589.3_Missense_Mutation_p.R221C			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	234					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.R223C(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GAAGCTGAAACGCCAGAAATA	0.612																																						ENST00000381558.1																			1	Substitution - Missense(1)	p.R223C(1)	ovary(1)	breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(643-645)Cgc>Tgc		troponin T type 3 (skeletal, fast)		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4404		0,0,2202	123.0	127.0	126.0		643,661,643,667	3.2	1.0	11		126	1,8597		0,1,4298	no	missense,missense,missense,missense	TNNT3	NM_001042780.2,NM_001042781.2,NM_001042782.2,NM_006757.3	180,180,180,180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	215/251,221/257,215/251,223/259	1956135	1,13001	2202	4299	6501	SO:0001583	missense	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1956135C>T	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.700C>T	11.37:g.1956135C>T	ENSP00000380468:p.Arg234Cys					TNNT3_ENST00000278317.6_Missense_Mutation_p.R223C|TNNT3_ENST00000397301.1_Missense_Mutation_p.R234C|TNNT3_ENST00000381579.3_Missense_Mutation_p.R215C|TNNT3_ENST00000397304.2_Missense_Mutation_p.R204C|TNNT3_ENST00000360603.3_Missense_Mutation_p.R217C|TNNT3_ENST00000381589.3_Missense_Mutation_p.R221C|TNNT3_ENST00000381548.3_Missense_Mutation_p.R225C|TNNT3_ENST00000381549.3_Missense_Mutation_p.R215C|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381561.4_Missense_Mutation_p.R226C|TNNT3_ENST00000446240.1_Missense_Mutation_p.R204C	p.R215C			P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	13	922	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	234					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.643C>T		.	.	.	.	.	.	.	.	.	.	.	15.09	2.730135	0.48939	0.0	1.16E-4	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	4.28	3.21	0.36854	.	0.106561	0.56097	D	0.000034	D	0.89413	0.6708	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;P	0.66847	0.947;0.947;0.947;0.947;0.886	D	0.89963	0.4088	10	0.87932	D	0	-33.8982	9.6127	0.39672	0.4829:0.5171:0.0:0.0	.	223;215;221;215;234	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	C	223;235;226;225;217;215;221;215;209;204;226;210;215;234;204;204	ENSP00000278317:R223C;ENSP00000370973:R226C;ENSP00000370960:R225C;ENSP00000353815:R217C;ENSP00000370961:R215C;ENSP00000371001:R221C;ENSP00000370991:R215C;ENSP00000370969:R209C;ENSP00000415614:R204C;ENSP00000370975:R226C;ENSP00000344870:R210C;ENSP00000370970:R215C;ENSP00000380468:R234C;ENSP00000380471:R204C;ENSP00000413203:R204C	ENSP00000278317:R223C	R	+	1	0	TNNT3	1912711	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	2.182000	0.42556	2.113000	0.64589	0.313000	0.20887	CGC		0.612	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		5	185	0	0	0	0.184627	0	5	185				
CCDC158	339965	broad.mit.edu	37	4	77250102	77250102	+	Silent	SNP	G	G	A	rs138548683	byFrequency	TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr4:77250102G>A	ENST00000388914.3	-	21	3101	c.2949C>T	c.(2947-2949)caC>caT	p.H983H		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	983	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTCTCCTGCGTGTAATGTGA	0.433													G|||	12	0.00239617	0.0015	0.0014	5008	,	,		19858	0.0089		0.0	False		,,,				2504	0.0					ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(2947-2949)caC>caT		coiled-coil domain containing 158		G		8,3938		0,8,1965	127.0	119.0	121.0		2949	-6.4	0.0	4	dbSNP_134	121	0,8348		0,0,4174	no	coding-synonymous	CCDC158	NM_001042784.1		0,8,6139	AA,AG,GG		0.0,0.2027,0.0651		983/1114	77250102	8,12286	1973	4174	6147	SO:0001819	synonymous_variant	339965							g.chr4:77250102G>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2949C>T	4.37:g.77250102G>A							p.H983H	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			21	3101	-			983			Ser-rich.		Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.2949C>T	CCDS43242.1																																																																																				0.433	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		8	71	0	0	0	0.278610	0	8	71				
HEATR4	399671	broad.mit.edu	37	14	73989793	73989793	+	Nonsense_Mutation	SNP	G	G	A	rs547969320		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr14:73989793G>A	ENST00000553558.1	-	3	385	c.64C>T	c.(64-66)Cga>Tga	p.R22*	HEATR4_ENST00000334988.2_Nonsense_Mutation_p.R22*|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000560393.1_De_novo_Start_OutOfFrame|RP3-414A15.2_ENST00000555972.2_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	22										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CATCCCAGTCGTGGGGGCAGT	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20590	0.0		0.0	False		,,,				2504	0.0					ENST00000553558.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(64-66)Cga>Tga		HEAT repeat containing 4																																				SO:0001587	stop_gained	399671							g.chr14:73989793G>A	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.64C>T	14.37:g.73989793G>A	ENSP00000450444:p.Arg22*					HEATR4_ENST00000334988.2_Nonsense_Mutation_p.R22*|RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000560393.1_De_novo_Start_OutOfFrame	p.R22*	NM_001220484.1	NP_001207413.1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	3	385	-								B7Z7V9|E9KL41	Nonsense_Mutation	SNP	ENST00000553558.1	37	c.64C>T	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	G	36	5.711184	0.96821	.	.	ENSG00000187105	ENST00000553558;ENST00000556455;ENST00000557603	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1191	0.72429	0.0:0.0:1.0:0.0	.	.	.	.	X	22	.	.	R	-	1	2	HEATR4	73059546	0.211000	0.23529	0.633000	0.29310	0.017000	0.09413	2.079000	0.41577	2.637000	0.89404	0.563000	0.77884	CGA		0.517	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		10	51	0	0	0	0.335167	0	10	51				
TRMT6	51605	broad.mit.edu	37	20	5925533	5925533	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr20:5925533C>A	ENST00000203001.2	-	3	414	c.284G>T	c.(283-285)cGa>cTa	p.R95L	TRMT6_ENST00000453074.2_Intron|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	95					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						AACTATATTTCGATTATCAGT	0.333																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(283-285)cGa>cTa		tRNA methyltransferase 6 homolog (S. cerevisiae)							135.0	129.0	131.0					20																	5925533		2201	4299	6500	SO:0001583	missense	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5925533C>A	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.284G>T	20.37:g.5925533C>A	ENSP00000203001:p.Arg95Leu					TRMT6_ENST00000453074.2_Intron|TRMT6_ENST00000473131.1_5'UTR	p.R95L	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			3	414	-			95					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	c.284G>T	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940735	0.92526	.	.	ENSG00000089195	ENST00000203001	T	0.34072	1.38	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.68906	0.3052	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71728	-0.4505	10	0.59425	D	0.04	-12.6682	20.5948	0.99439	0.0:1.0:0.0:0.0	.	95	Q9UJA5	TRM6_HUMAN	L	95	ENSP00000203001:R95L	ENSP00000203001:R95L	R	-	2	0	TRMT6	5873533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.103000	0.77014	2.873000	0.98535	0.563000	0.77884	CGA		0.333	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			3	114	1	0	0.115264	0.115264	0.123909	3	114				
ACTR10	55860	broad.mit.edu	37	14	58675824	58675824	+	Splice_Site	SNP	A	A	G			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr14:58675824A>G	ENST00000254286.4	+	4	421	c.341A>G	c.(340-342)gAg>gGg	p.E114G		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	114					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AAATATTTTGAGGTACCTGTC	0.333																																						ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.e4+1		actin-related protein 10 homolog (S. cerevisiae)							73.0	73.0	73.0					14																	58675824		2203	4300	6503	SO:0001630	splice_region_variant	55860					cytoplasm		g.chr14:58675824A>G	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.342+1A>G	14.37:g.58675824A>G							p.E114_splice	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN			4	421	+			114					Q9H9Y5|Q9NWY2	Splice_Site	SNP	ENST00000254286.4	37	c.342_splice	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.729998	0.89390	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	D	0.96459	-4.02	5.39	5.39	0.77823	.	0.095663	0.64402	D	0.000001	D	0.97235	0.9096	M	0.82630	2.6	0.80722	D	1	P	0.47604	0.898	P	0.51974	0.686	D	0.97567	1.0102	10	0.62326	D	0.03	-10.7229	14.2803	0.66208	1.0:0.0:0.0:0.0	.	114	Q9NZ32	ARP10_HUMAN	G	114	ENSP00000254286:E114G	ENSP00000254286:E114G	E	+	2	0	ACTR10	57745577	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.450000	0.90340	2.060000	0.61445	0.456000	0.33151	GAG		0.333	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1		Missense_Mutation	5	113	0	0	0	0.184627	0	5	113				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		4	116	0	0	0	0.184627	0	4	116				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	67	0	0	0	0.150653	0	4	67				
BSN	8927	broad.mit.edu	37	3	49691063	49691064	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr3:49691063_49691064delCT	ENST00000296452.4	+	5	4188_4189	c.4074_4075delCT	c.(4072-4077)agctctfs	p.SS1358fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1358					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCTGCACAGCTCTCCTGCCTC	0.629																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(4072-4077)agctfs		bassoon presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691063_49691064delCT	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4074_4075delCT	3.37:g.49691065_49691066delCT	ENSP00000296452:p.Ser1358fs						p.SS1358fs	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4188_4189	+			1358					O43161|Q7LGH3	Frame_Shift_Del	DEL	ENST00000296452.4	37	c.4074_4075delCT	CCDS2800.1																																																																																				0.629	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		8	170						8	170	---	---	---	---
CPEB4	80315	broad.mit.edu	37	5	173316976	173316977	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr5:173316976_173316977delAA	ENST00000265085.5	+	1	1694_1695	c.240_241delAA	c.(238-243)gcaaaafs	p.K81fs	CPEB4_ENST00000334035.5_Frame_Shift_Del_p.K81fs|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.K81fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.K81fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	81					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGAAAAAGCAAAAAGTCAGCA	0.49																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(238-243)gcaafs		cytoplasmic polyadenylation element binding protein 4																																				SO:0001589	frameshift_variant	80315						nucleotide binding|RNA binding	g.chr5:173316976_173316977delAA	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.240_241delAA	5.37:g.173316978_173316979delAA	ENSP00000265085:p.Lys81fs					CPEB4_ENST00000334035.5_Frame_Shift_Del_p.AK80fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.AK80fs|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.AK80fs	p.AK80fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1694_1695	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	80					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Frame_Shift_Del	DEL	ENST00000265085.5	37	c.240_241delAA	CCDS4390.1																																																																																				0.490	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		39	165						39	165	---	---	---	---
TTYH3	80727	broad.mit.edu	37	7	2687233	2687234	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr7:2687233_2687234insG	ENST00000258796.7	+	4	792_793	c.587_588insG	c.(586-591)gaggtgfs	p.V197fs	TTYH3_ENST00000403167.1_5'Flank|TTYH3_ENST00000407643.1_Frame_Shift_Ins_p.V197fs	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	197					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GTGTCGCTGGAGGTGCTGGCGG	0.673																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(586-588)ggtfs		tweety family member 3																																				SO:0001589	frameshift_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2687233_2687234insG		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.589dupG	7.37:g.2687235_2687235dupG	ENSP00000258796:p.Val197fs					TTYH3_ENST00000407643.1_Frame_Shift_Ins_p.G196fs	p.G196fs	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	4	792_793	+		Ovarian(82;0.0112)	196					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Frame_Shift_Ins	INS	ENST00000258796.7	37	c.587_588insG	CCDS34588.1																																																																																				0.673	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		2	4						2	4	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100482650	100482652	+	In_Frame_Del	DEL	AGG	AGG	-	rs572333813		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr7:100482650_100482652delAGG	ENST00000347433.4	+	9	1306_1308	c.1148_1150delAGG	c.(1147-1152)aaggag>aag	p.E385del	SRRT_ENST00000388793.4_In_Frame_Del_p.E385del|SRRT_ENST00000457580.2_In_Frame_Del_p.E385del|SRRT_ENST00000432932.1_In_Frame_Del_p.E385del			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	385	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAGGAGGAGAAGGAGGAGGCCGG	0.581																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1147-1152)aag>a		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001651	inframe_deletion	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482650_100482652delAGG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1148_1150delAGG	7.37:g.100482656_100482658delAGG	ENSP00000314491:p.Glu385del					SRRT_ENST00000457580.2_In_Frame_Del_p.KE383del|SRRT_ENST00000347433.4_In_Frame_Del_p.KE383del|SRRT_ENST00000432932.1_In_Frame_Del_p.KE383del	p.KE383del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			9	1368_1370	+			383			Glu-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	In_Frame_Del	DEL	ENST00000347433.4	37	c.1148_1150delAGG	CCDS34709.1																																																																																				0.581	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		15	342						15	342	---	---	---	---
C12orf40	283461	broad.mit.edu	37	12	40114882	40114885	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr12:40114882_40114885delACAA	ENST00000324616.5	+	13	1942_1945	c.1788_1791delACAA	c.(1786-1791)atacaafs	p.IQ596fs		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	596										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGCAGGGATACAAACAGAGAGTG	0.402																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(1786-1791)atfs		chromosome 12 open reading frame 40																																				SO:0001589	frameshift_variant	283461							g.chr12:40114882_40114885delACAA	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1788_1791delACAA	12.37:g.40114882_40114885delACAA	ENSP00000317671:p.Ile596fs						p.IQ596fs	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			13	1942_1945	+			596					B7WNU1|Q8IXY6|Q8N818|V9HW02	Frame_Shift_Del	DEL	ENST00000324616.5	37	c.1788_1791delACAA	CCDS41770.1																																																																																				0.402	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		23	110						23	110	---	---	---	---
RP11-221N13.4	0	broad.mit.edu	37	12	66041233	66041233	+	lincRNA	DEL	C	C	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr12:66041233delC	ENST00000545188.1	+	0	145																											GTGCTATTGACCAGCCTAGAA	0.507																																						ENST00000545188.1																			0																																																			0							g.chr12:66041233delC																													12.37:g.66041233delC														0	145	+									RNA	DEL	ENST00000545188.1	37																																																																																						0.507	RP11-221N13.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401557.1			2	4						2	4	---	---	---	---
BAIAP3	8938	broad.mit.edu	37	16	1397309	1397310	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr16:1397309_1397310insT	ENST00000324385.5	+	29	3025_3026	c.2867_2868insT	c.(2866-2871)agttttfs	p.SF956fs	BAIAP3_ENST00000397489.1_Frame_Shift_Ins_p.SF938fs|BAIAP3_ENST00000568887.1_Frame_Shift_Ins_p.SF893fs|BAIAP3_ENST00000397488.2_Frame_Shift_Ins_p.SF938fs|BAIAP3_ENST00000426824.3_Frame_Shift_Ins_p.SF921fs|BAIAP3_ENST00000564213.1_3'UTR|BAIAP3_ENST00000562208.1_Frame_Shift_Ins_p.SF898fs|BAIAP3_ENST00000421665.2_Frame_Shift_Ins_p.SF885fs	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	956	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCCCTGGTCAGTTTTTTCCACG	0.639																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2866-2868)attfs		BAI1-associated protein 3																																				SO:0001589	frameshift_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1397309_1397310insT	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2873dupT	16.37:g.1397315_1397315dupT	ENSP00000324510:p.Ser956fs					BAIAP3_ENST00000426824.3_Frame_Shift_Ins_p.I921fs|BAIAP3_ENST00000562208.1_Frame_Shift_Ins_p.I898fs|BAIAP3_ENST00000397489.1_Frame_Shift_Ins_p.I938fs|BAIAP3_ENST00000568887.1_Frame_Shift_Ins_p.I893fs|BAIAP3_ENST00000564213.1_3'UTR|BAIAP3_ENST00000421665.2_Frame_Shift_Ins_p.I885fs|BAIAP3_ENST00000397488.2_Frame_Shift_Ins_p.I938fs	p.I956fs	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			29	3025_3026	+		Hepatocellular(780;0.0893)	956			MHD2.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Frame_Shift_Ins	INS	ENST00000324385.5	37	c.2867_2868insT	CCDS10434.1																																																																																				0.639	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			12	60						12	60	---	---	---	---
ABCA17P	650655	broad.mit.edu	37	16	2475097	2475098	+	RNA	DEL	TC	TC	-	rs372790950|rs372517981		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr16:2475097_2475098delTC	ENST00000469908.1	+	0	3047					NR_003574.1				ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene																		GGTAActctgtctctctctctc	0.559																																						ENST00000469908.1																			0																																																			0							g.chr16:2475097_2475098delTC	DQ266102		16p13.3	2012-03-14	2010-03-12		ENSG00000238098	ENSG00000238098		"""ATP binding cassette transporters / subfamily A"""	32972	pseudogene	pseudogene						16968533	Standard	NR_003574		Approved		uc002cqc.1		OTTHUMG00000154348		16.37:g.2475107_2475108delTC								NR_003574.1						0	3047	+									RNA	DEL	ENST00000469908.1	37																																																																																						0.559	ABCA17P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334904.1	NR_003574		3	4						3	4	---	---	---	---
ICT1	3396	broad.mit.edu	37	17	73016725	73016727	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr17:73016725_73016727delAAG	ENST00000301585.5	+	5	522_524	c.509_511delAAG	c.(508-513)aaagaa>aaa	p.E171del		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	171					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GAGCCAACAAAAGAAGATGTTAA	0.473																																						ENST00000301585.5																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(508-513)aaa>a		immature colon carcinoma transcript 1																																				SO:0001651	inframe_deletion	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73016725_73016727delAAG	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.509_511delAAG	17.37:g.73016728_73016730delAAG	ENSP00000301585:p.Glu171del						p.KE170del	NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN			5	522_524	+	all_lung(278;0.226)		170					B2RAD1|Q53HM7|Q53Y11	In_Frame_Del	DEL	ENST00000301585.5	37	c.509_511delAAG	CCDS11711.1																																																																																				0.473	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		18	60						18	60	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54843564	54843565	+	IGR	INS	-	-	C	rs556721604|rs535654307|rs35566239|rs5828583	byFrequency	TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:54843564_54843565insC	ENST00000291759.4	-	0	1944				AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CGGCTGCTCCTCCCCAGGCTGC	0.723													?|CCCC|CCCCC|unsure	2000	0.399361	0.1437	0.3905	5008	,	,		12788	0.5903		0.4394	False		,,,				2504	0.5133					ENST00000507363.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:54843564_54843565insC	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355		19.37:g.54843568_54843568dupC														0	430	-								Q32MC4	RNA	INS	ENST00000291759.4	37		CCDS12890.1																																																																																				0.723	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		4	3						4	3	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39922031	39922032	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:39922031_39922032delCT	ENST00000378444.4	-	9	4368_4369	c.4140_4141delAG	c.(4138-4143)acagggfs	p.G1381fs	BCOR_ENST00000378455.4_Frame_Shift_Del_p.G1329fs|BCOR_ENST00000342274.4_Frame_Shift_Del_p.G1347fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.G1347fs|BCOR_ENST00000378463.1_Frame_Shift_Del_p.G224fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1381					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TAGTATTCCCCTGTCAGTGGCA	0.579			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126	GRCh37	CD041157	BCOR	D		c.(4036-4041)acggfs		BCL6 corepressor																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922031_39922032delCT	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4140_4141delAG	X.37:g.39922031_39922032delCT	ENSP00000367705:p.Gly1381fs					BCOR_ENST00000378463.1_Frame_Shift_Del_p.TG223fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.TG1380fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.TG1346fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.TG1328fs	p.TG1346fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			9	4400_4401	-			1380					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	c.4038_4039delAG	CCDS48093.1																																																																																				0.579	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		14	27						14	27	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939181	76939184	+	Frame_Shift_Del	DEL	AGGA	AGGA	-	rs374670846		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:76939181_76939184delAGGA	ENST00000373344.5	-	9	1778_1781	c.1564_1567delTCCT	c.(1564-1569)tcctcafs	p.SS522fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.SS484fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	522					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCTGGAACTGAGGAAGGAACAGAC	0.407			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1564-1569)cafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939181_76939184delAGGA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1564_1567delTCCT	X.37:g.76939185_76939188delAGGA	ENSP00000362441:p.Ser522fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.SS484fs	p.SS522fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1778_1781	-			522					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1564_1567delTCCT	CCDS14434.1																																																																																				0.407	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		72	204						72	204	---	---	---	---
