#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	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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"""		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(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	CM083194|CM951225	TP53	M		c.(577-579)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							97.0	87.0	90.0					17																	7578271		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.chr17:7578271T>C	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.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg	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.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	710	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.578A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		55	12	0	0	0	1	0	55	12				
ZCCHC12	170261	broad.mit.edu	37	X	117959414	117959414	+	Silent	SNP	T	T	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:117959414T>C	ENST00000310164.2	+	4	714	c.207T>C	c.(205-207)aaT>aaC	p.N69N		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	69					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						cccaagtcaatggcgtcctgc	0.542																																						ENST00000310164.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(205-207)aaT>aaC		zinc finger, CCHC domain containing 12							71.0	71.0	71.0					X																	117959414		2203	4300	6503	SO:0001819	synonymous_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959414T>C	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.207T>C	X.37:g.117959414T>C							p.N69N	NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN			4	714	+			69					B3KV48|Q6PID5|Q8N1C1	Silent	SNP	ENST00000310164.2	37	c.207T>C	CCDS14574.1																																																																																				0.542	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		6	152	0	0	0	1	0	6	152				
KRTAP10-6	386674	broad.mit.edu	37	21	46011886	46011886	+	Silent	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr21:46011886G>A	ENST00000400368.1	-	1	500	c.480C>T	c.(478-480)tgC>tgT	p.C160C	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	160	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CAGGCTTGCAGCAGACGGGCA	0.627																																						ENST00000400368.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(478-480)tgC>tgT		keratin associated protein 10-6							142.0	140.0	140.0					21																	46011886		2203	4300	6503	SO:0001819	synonymous_variant	386674					keratin filament		g.chr21:46011886G>A	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.480C>T	21.37:g.46011886G>A						TSPEAR_ENST00000323084.4_Intron	p.C160C	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	500	-			160			29 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000400368.1	37	c.480C>T	CCDS42959.1																																																																																				0.627	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		24	287	0	0	0	1	0	24	287				
CHMP1A	5119	broad.mit.edu	37	16	89713000	89713000	+	Silent	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr16:89713000C>T	ENST00000397901.3	-	6	760	c.504G>A	c.(502-504)ctG>ctA	p.L168L	CHMP1A_ENST00000547614.1_5'Flank|CHMP1A_ENST00000253475.5_Missense_Mutation_p.A162T|CHMP1A_ENST00000550102.1_Silent_p.L159L|CHMP1A_ENST00000535997.2_Silent_p.L104L	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	168					cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192)	condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363)	metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CGCCCTCGGGCAGCTGGCTGA	0.677																																						ENST00000253475.5																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(484-486)Gcc>Acc		charged multivesicular body protein 1A							21.0	25.0	24.0					16																	89713000		2143	4242	6385	SO:0001819	synonymous_variant	5119				cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding	g.chr16:89713000C>T	U58048	CCDS45552.1	16q24.3	2011-09-21	2011-09-21	2007-03-20	ENSG00000131165	ENSG00000131165		"""Charged multivesicular body proteins"""	8740	protein-coding gene	gene with protein product		164010	"""procollagen (type III) N-endopeptidase"", ""chromatin modifying protein 1A"""	PRSM1, PCOLN3		11559748, 11559747	Standard	NM_002768		Approved	KIAA0047, CHMP1, Vps46A	uc002fnu.4	Q9HD42	OTTHUMG00000169521	ENST00000397901.3:c.504G>A	16.37:g.89713000C>T						CHMP1A_ENST00000397901.3_Silent_p.L168L|CHMP1A_ENST00000535997.2_Silent_p.L104L|CHMP1A_ENST00000550102.1_Silent_p.L159L	p.A162T	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	5	616	-		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	0					A2RU09|Q14468|Q15779|Q96G31	Missense_Mutation	SNP	ENST00000397901.3	37	c.484G>A	CCDS45552.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692706	0.48202	.	.	ENSG00000131165	ENST00000253475	.	.	.	5.79	3.69	0.42338	.	0.000000	0.36409	N	0.002614	T	0.52125	0.1715	.	.	.	0.26378	N	0.97678	P;D	0.60575	0.879;0.988	B;P	0.54060	0.368;0.741	T	0.50759	-0.8790	8	0.87932	D	0	-3.587	12.9967	0.58650	0.2504:0.6541:0.0955:0.0	.	162;254	A6NG32;D3DX81	.;.	T	162	.	ENSP00000253475:A162T	A	-	1	0	CHMP1A	88240501	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.571000	0.23669	1.424000	0.47217	0.655000	0.94253	GCC		0.677	CHMP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404581.1	NM_002768		8	11	0	0	0	1	0	8	11				
KRTAP17-1	83902	broad.mit.edu	37	17	39471743	39471743	+	Missense_Mutation	SNP	C	C	T	rs556363411		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:39471743C>T	ENST00000334202.3	-	1	204	c.160G>A	c.(160-162)Gga>Aga	p.G54R		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	54						intermediate filament (GO:0005882)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			caagacgatccgcagcagctg	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		10824	0.001		0.0	False		,,,				2504	0.0					ENST00000334202.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(160-162)Gga>Aga		keratin associated protein 17-1							16.0	22.0	20.0					17																	39471743		2184	4272	6456	SO:0001583	missense	83902					intermediate filament		g.chr17:39471743C>T	AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860		"""Keratin associated proteins"""	18917	protein-coding gene	gene with protein product							Standard	NM_031964		Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.160G>A	17.37:g.39471743C>T	ENSP00000333993:p.Gly54Arg						p.G54R	NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	204	-		Breast(137;0.000496)	54						Missense_Mutation	SNP	ENST00000334202.3	37	c.160G>A	CCDS11387.1	.	.	.	.	.	.	.	.	.	.	C	4.356	0.065479	0.08388	.	.	ENSG00000186860	ENST00000334202	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	T	0.48840	0.1522	N	0.19112	0.55	0.19775	N	0.999955	D	0.89917	1.0	D	0.91635	0.999	T	0.38607	-0.9653	8	0.87932	D	0	-5.6053	12.0347	0.53418	0.0:1.0:0.0:0.0	.	54	Q9BYP8	KR171_HUMAN	R	54	.	ENSP00000333993:G54R	G	-	1	0	KRTAP17-1	36725269	0.648000	0.27313	0.112000	0.21494	0.067000	0.16453	2.544000	0.45761	2.195000	0.70347	0.462000	0.41574	GGA		0.697	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257296.1			11	9	0	0	0	1	0	11	9				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	4	65	0	0	0	1	0	4	65				
DEPDC4	120863	broad.mit.edu	37	12	100656178	100656178	+	Nonsense_Mutation	SNP	A	A	C	rs374260139		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:100656178A>C	ENST00000416321.1	-	3	566	c.564T>G	c.(562-564)taT>taG	p.Y188*		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	188					intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AAATCATTTCATATCCTGGTC	0.279																																						ENST00000416321.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						c.(562-564)taT>taG		DEP domain containing 4		A	stop/TYR	1,4405	2.1+/-5.4	0,1,2202	79.0	79.0	79.0		564	-1.5	0.1	12		79	0,8600		0,0,4300	no	stop-gained	DEPDC4	NM_152317.2		0,1,6502	CC,CA,AA		0.0,0.0227,0.0077		188/295	100656178	1,13005	2203	4300	6503	SO:0001587	stop_gained	120863				intracellular signal transduction			g.chr12:100656178A>C	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.564T>G	12.37:g.100656178A>C	ENSP00000396234:p.Tyr188*						p.Y188*	NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN			3	566	-			188					Q496C8|Q96BW0	Nonsense_Mutation	SNP	ENST00000416321.1	37	c.564T>G	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.427816	0.83667	2.27E-4	0.0	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	.	.	.	4.36	-1.55	0.08558	.	1.053100	0.07449	U	0.898746	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	0.8994	0.01270	0.4953:0.1611:0.1877:0.156	.	.	.	.	X	188;121;188;188;121;181	.	ENSP00000367490:Y188X	Y	-	3	2	DEPDC4	99180309	0.076000	0.21285	0.116000	0.21606	0.899000	0.52679	0.319000	0.19522	-0.189000	0.10482	0.421000	0.28195	TAT		0.279	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317		16	49	0	0	0	1	0	16	49				
CYP26B1	56603	broad.mit.edu	37	2	72361956	72361956	+	Silent	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:72361956G>A	ENST00000001146.2	-	4	998	c.795C>T	c.(793-795)gaC>gaT	p.D265D	CYP26B1_ENST00000412253.1_Silent_p.D74D|CYP26B1_ENST00000546307.1_Silent_p.D190D	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	265				D -> G (in Ref. 3; BAH11930). {ECO:0000305}.	bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTCCAGGGCGTCCAAGTAGT	0.632																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(793-795)gaC>gaT		cytochrome P450, family 26, subfamily B, polypeptide 1							164.0	130.0	142.0					2																	72361956		2203	4300	6503	SO:0001819	synonymous_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72361956G>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.795C>T	2.37:g.72361956G>A						CYP26B1_ENST00000546307.1_Silent_p.D190D|CYP26B1_ENST00000412253.1_Silent_p.D74D	p.D265D	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			4	998	-			265					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	ENST00000001146.2	37	c.795C>T	CCDS1919.1																																																																																				0.632	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		4	74	0	0	0	1	0	4	74				
TANK	10010	broad.mit.edu	37	2	162036208	162036208	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:162036208C>T	ENST00000392749.2	+	2	274	c.35C>T	c.(34-36)gCg>gTg	p.A12V	TANK_ENST00000403609.1_Missense_Mutation_p.A12V|TANK_ENST00000402568.1_Missense_Mutation_p.A70V|TANK_ENST00000406287.1_Missense_Mutation_p.A70V|TANK_ENST00000259075.2_Missense_Mutation_p.A12V|TANK_ENST00000457476.1_Missense_Mutation_p.A12V|TANK_ENST00000405852.1_Missense_Mutation_p.A12V	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	12					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CTCAATAAAGCGTATGAAGCC	0.393																																						ENST00000392749.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						c.(34-36)gCg>gTg		TRAF family member-associated NFKB activator							124.0	115.0	118.0					2																	162036208		2203	4300	6503	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162036208C>T	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.35C>T	2.37:g.162036208C>T	ENSP00000376505:p.Ala12Val					TANK_ENST00000406287.1_Missense_Mutation_p.A70V|TANK_ENST00000405852.1_Missense_Mutation_p.A12V|TANK_ENST00000403609.1_Missense_Mutation_p.A12V|TANK_ENST00000259075.2_Missense_Mutation_p.A12V|TANK_ENST00000402568.1_Missense_Mutation_p.A70V|TANK_ENST00000457476.1_Missense_Mutation_p.A12V	p.A12V	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN			2	274	+			12					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.35C>T	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943012	0.92526	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000457476;ENST00000392749;ENST00000440506;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000403609	T;T;T;T;T	0.66638	0.31;0.31;2.19;-0.22;2.19	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	L	0.36672	1.1	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.77795	-0.2454	10	0.87932	D	0	-13.1191	20.1547	0.98103	0.0:1.0:0.0:0.0	.	12;12	Q92844;Q7Z4J6	TANK_HUMAN;.	V	12;12;12;12;12;12;70;70;12;38;12	ENSP00000259075:A12V;ENSP00000376505:A12V;ENSP00000384492:A70V;ENSP00000385487:A12V;ENSP00000392776:A38V	ENSP00000259075:A12V	A	+	2	0	TANK	161744454	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.913000	0.69957	2.868000	0.98415	0.555000	0.69702	GCG		0.393	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		30	36	0	0	0	1	0	30	36				
MTERF4	130916	broad.mit.edu	37	2	242038985	242038985	+	Missense_Mutation	SNP	G	G	A	rs35437554		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:242038985G>A	ENST00000391980.2	-	2	404	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	MTERFD2_ENST00000407095.3_Missense_Mutation_p.R116W|MTERFD2_ENST00000495694.1_Missense_Mutation_p.R116W|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		116					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GCACCTCGCCGTACACTGAGC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		20528	0.0		0.001	False		,,,				2504	0.0					ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(346-348)Cgg>Tgg		MTERF domain containing 2		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	119.0	119.0	119.0		346	2.0	0.0	2	dbSNP_126	119	3,8597	2.2+/-6.3	0,3,4297	yes	missense	MTERFD2	NM_182501.3	101	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	116/382	242038985	4,13002	2203	4300	6503	SO:0001583	missense	130916							g.chr2:242038985G>A																												ENST00000391980.2:c.346C>T	2.37:g.242038985G>A	ENSP00000375840:p.Arg116Trp					MTERFD2_ENST00000495694.1_Missense_Mutation_p.R116W|MTERFD2_ENST00000407095.3_Missense_Mutation_p.R116W|MTERFD2_ENST00000406593.1_Intron	p.R116W	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	2	404	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	116					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.346C>T	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647699	0.29336	2.27E-4	3.49E-4	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.50277	0.75;0.79;2.55;2.55;2.55;0.84	5.03	1.97	0.26223	.	2.777580	0.01328	N	0.011144	T	0.27169	0.0666	N	0.04508	-0.205	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.001;0.002	T	0.17018	-1.0383	10	0.36615	T	0.2	-0.1895	4.6718	0.12692	0.1961:0.0:0.6339:0.17	rs35437554	116;116	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	W	116;116;116;109;116;95	ENSP00000419315:R116W;ENSP00000385183:R116W;ENSP00000375840:R116W;ENSP00000409023:R109W;ENSP00000385630:R116W;ENSP00000393063:R95W	ENSP00000241527:R116W	R	-	1	2	MTERFD2	241687658	0.022000	0.18835	0.000000	0.03702	0.125000	0.20455	1.328000	0.33758	0.487000	0.27698	0.591000	0.81541	CGG		0.483	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			4	146	0	0	0	1	0	4	146				
TRANK1	9881	broad.mit.edu	37	3	36873436	36873436	+	Silent	SNP	A	A	G			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr3:36873436A>G	ENST00000429976.2	-	21	7753	c.7506T>C	c.(7504-7506)gaT>gaC	p.D2502D	TRANK1_ENST00000428977.2_Silent_p.D1952D|TRANK1_ENST00000301807.6_Silent_p.D1952D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2502							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACTGAAGGCATCAAGCAGGA	0.517																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(5854-5856)gaT>gaC		tetratricopeptide repeat and ankyrin repeat containing 1							137.0	138.0	138.0					3																	36873436		2165	4270	6435	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873436A>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7506T>C	3.37:g.36873436A>G						TRANK1_ENST00000429976.2_Silent_p.D2502D|TRANK1_ENST00000428977.2_Silent_p.D1952D	p.D1952D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	7753	-			2502					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.5856T>C	CCDS46789.2																																																																																				0.517	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		4	157	0	0	0	1	0	4	157				
TNKS	8658	broad.mit.edu	37	8	9609163	9609163	+	Silent	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr8:9609163G>A	ENST00000310430.6	+	19	2903	c.2877G>A	c.(2875-2877)gaG>gaA	p.E959E	TNKS_ENST00000518281.1_Silent_p.E722E	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	959					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGCCCCCAGAGGCCTTACCTA	0.448																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(2875-2877)gaG>gaA		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							154.0	156.0	155.0					8																	9609163		2203	4300	6503	SO:0001819	synonymous_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9609163G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2877G>A	8.37:g.9609163G>A						TNKS_ENST00000518281.1_Silent_p.E722E	p.E959E	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	19	2903	+			959					O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	c.2877G>A	CCDS5974.1																																																																																				0.448	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		5	233	0	0	0	1	0	5	233				
CCIN	881	broad.mit.edu	37	9	36170045	36170045	+	Silent	SNP	C	C	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:36170045C>A	ENST00000335119.2	+	1	657	c.546C>A	c.(544-546)cgC>cgA	p.R182R		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	182	BACK.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCTTTGGCCGCCTGCTCCGTG	0.542																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(544-546)cgC>cgA		calicin							56.0	55.0	55.0					9																	36170045		2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170045C>A	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.546C>A	9.37:g.36170045C>A							p.R182R	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	657	+			182			BACK.		Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.546C>A	CCDS6599.1																																																																																				0.542	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		23	41	1	0	2.39556e-15	1	2.5239e-15	23	41				
MYH4	4622	broad.mit.edu	37	17	10370053	10370053	+	Missense_Mutation	SNP	C	C	A	rs377285217		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:10370053C>A	ENST00000255381.2	-	3	120	c.10G>T	c.(10-12)Gac>Tac	p.D4Y	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	4					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATCTCAGAGTCAGAACTCATG	0.473																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(10-12)Gac>Tac		myosin, heavy chain 4, skeletal muscle							76.0	68.0	71.0					17																	10370053		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10370053C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.10G>T	17.37:g.10370053C>A	ENSP00000255381:p.Asp4Tyr					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.D4Y	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			3	120	-			4			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.10G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002307	0.74932	.	.	ENSG00000141048	ENST00000255381	D	0.86432	-2.12	4.53	4.53	0.55603	.	0.000000	0.38837	U	0.001544	D	0.93719	0.7993	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	D	0.94758	0.7933	10	0.87932	D	0	.	17.8023	0.88591	0.0:1.0:0.0:0.0	.	4	Q9Y623	MYH4_HUMAN	Y	4	ENSP00000255381:D4Y	ENSP00000255381:D4Y	D	-	1	0	MYH4	10310778	1.000000	0.71417	0.687000	0.30102	0.696000	0.40369	6.756000	0.74919	2.498000	0.84270	0.650000	0.86243	GAC		0.473	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	102	1	0	1	1	1	5	102				
BEGAIN	57596	broad.mit.edu	37	14	101004382	101004382	+	Missense_Mutation	SNP	G	G	A	rs185916516	byFrequency	TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr14:101004382G>A	ENST00000355173.2	-	7	1777	c.1706C>T	c.(1705-1707)cCg>cTg	p.P569L	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Missense_Mutation_p.P505L|BEGAIN_ENST00000443071.2_Missense_Mutation_p.P569L	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	569						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				ACCAGTCCGCGGAAAGGCCTG	0.687													G|||	7	0.00139776	0.0	0.0	5008	,	,		12676	0.0069		0.0	False		,,,				2504	0.0				NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(1513-1515)cCg>cTg		brain-enriched guanylate kinase-associated							12.0	14.0	13.0					14																	101004382		2188	4277	6465	SO:0001583	missense	57596					cytoplasm|membrane	protein binding	g.chr14:101004382G>A	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1706C>T	14.37:g.101004382G>A	ENSP00000347301:p.Pro569Leu					BEGAIN_ENST00000443071.2_Missense_Mutation_p.P569L|BEGAIN_ENST00000355173.2_Missense_Mutation_p.P569L	p.P505L			Q9BUH8	BEGIN_HUMAN			5	4918	-		Melanoma(154;0.212)	569					Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	c.1514C>T	CCDS9962.1	10	0.004578754578754579	2	0.0040650406504065045	0	0.0	8	0.013986013986013986	0	0.0	G	4.685	0.127327	0.08981	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.29	2.0	0.26442	.	0.062547	0.64402	D	0.000004	T	0.32734	0.0839	L	0.36672	1.1	0.39667	D	0.970692	B	0.17667	0.023	B	0.09377	0.004	T	0.26430	-1.0103	9	0.45353	T	0.12	.	5.6448	0.17584	0.1098:0.0:0.4674:0.4228	.	569	Q9BUH8	BEGIN_HUMAN	L	569;505;569	.	ENSP00000347301:P569L	P	-	2	0	BEGAIN	100074135	1.000000	0.71417	0.846000	0.33378	0.159000	0.22180	5.121000	0.64691	0.902000	0.36520	0.462000	0.41574	CCG		0.687	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		3	30	0	0	0	1	0	3	30				
MAML1	9794	broad.mit.edu	37	5	179201423	179201423	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr5:179201423T>C	ENST00000292599.3	+	5	2859	c.2596T>C	c.(2596-2598)Ttc>Ctc	p.F866L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCTCCAGTTTCCACATGCA	0.607																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2596-2598)Ttc>Ctc		mastermind-like 1 (Drosophila)							42.0	44.0	43.0					5																	179201423		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179201423T>C	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2596T>C	5.37:g.179201423T>C	ENSP00000292599:p.Phe866Leu					MAML1_ENST00000503050.1_Intron	p.F866L	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	2859	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	866						Missense_Mutation	SNP	ENST00000292599.3	37	c.2596T>C	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264359	0.80358	.	.	ENSG00000161021	ENST00000292599	T	0.30182	1.54	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.40448	0.1117	L	0.59436	1.845	0.80722	D	1	D	0.53745	0.962	P	0.49922	0.626	T	0.21999	-1.0229	10	0.39692	T	0.17	-20.1181	14.8284	0.70130	0.0:0.0:0.0:1.0	.	866	Q92585	MAML1_HUMAN	L	866	ENSP00000292599:F866L	ENSP00000292599:F866L	F	+	1	0	MAML1	179134029	1.000000	0.71417	0.908000	0.35775	0.958000	0.62258	6.830000	0.75319	1.913000	0.55393	0.459000	0.35465	TTC		0.607	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		28	53	0	0	0	1	0	28	53				
TMEM234	56063	broad.mit.edu	37	1	32688225	32688225	+	5'Flank	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:32688225G>A	ENST00000344461.3	-	0	0				TMEM234_ENST00000545122.1_5'Flank|TMEM234_ENST00000373593.1_5'Flank|EIF3I_ENST00000373586.1_Silent_p.K30K|EIF3I_ENST00000471486.1_3'UTR|TMEM234_ENST00000309777.6_5'Flank			Q8WY98	TM234_HUMAN	transmembrane protein 234							integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						CTGTGGCCAAGGACCCTGTGA	0.587																																						ENST00000373586.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(88-90)aaG>aaA		eukaryotic translation initiation factor 3, subunit I							57.0	57.0	57.0					1																	32688225		2203	4300	6503	SO:0001631	upstream_gene_variant	8668					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr1:32688225G>A	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742		1.37:g.32688225G>A	Exception_encountered					EIF3I_ENST00000471486.1_3'UTR	p.K30K	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN			2	162	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	30					B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Silent	SNP	ENST00000344461.3	37	c.90G>A																																																																																					0.587	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		39	73	0	0	0	1	0	39	73				
LONRF2	164832	broad.mit.edu	37	2	100911951	100911951	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:100911951G>C	ENST00000393437.3	-	8	2180	c.1541C>G	c.(1540-1542)cCg>cGg	p.P514R	LONRF2_ENST00000409647.1_Missense_Mutation_p.P271R	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	514							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.P514L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CAATTCATCCGGCAAATATCG	0.343																																						ENST00000393437.3																			1	Substitution - Missense(1)	p.P514L(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1540-1542)cCg>cGg		LON peptidase N-terminal domain and ring finger 2							131.0	128.0	129.0					2																	100911951		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100911951G>C	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1541C>G	2.37:g.100911951G>C	ENSP00000377086:p.Pro514Arg					LONRF2_ENST00000409647.1_Missense_Mutation_p.P271R	p.P514R	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			8	2180	-			514					B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1541C>G	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871229	0.33069	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.87809	-2.13;-2.3	4.25	3.34	0.38264	.	0.538685	0.18263	N	0.146568	D	0.85737	0.5766	L	0.58510	1.815	0.18873	N	0.999986	P	0.49358	0.923	B	0.43701	0.428	T	0.78391	-0.2222	10	0.72032	D	0.01	-0.536	13.433	0.61066	0.0:0.0:0.8418:0.1582	.	514	Q1L5Z9	LONF2_HUMAN	R	514;271	ENSP00000377086:P514R;ENSP00000386823:P271R	ENSP00000377086:P514R	P	-	2	0	LONRF2	100278383	0.541000	0.26417	0.009000	0.14445	0.441000	0.31987	3.934000	0.56553	0.838000	0.34948	0.655000	0.94253	CCG		0.343	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		9	102	0	0	0	1	0	9	102				
F8	2157	broad.mit.edu	37	X	154194745	154194745	+	Silent	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:154194745C>T	ENST00000360256.4	-	8	1427	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	409	F5/8 type A 2.|Plastocyanin-like 3.		E -> G (in HEMA; severe/moderate; dbSNP:rs28933671). {ECO:0000269|PubMed:11410838}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCCAGTCCTCCTCTTCAGCAG	0.453																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(1225-1227)gaG>gaA		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						138.0	106.0	117.0					X																	154194745		2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154194745C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1227G>A	X.37:g.154194745C>T						F8_ENST00000483822.1_5'UTR	p.E409E	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			8	1427	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		409		E -> G (in HEMA; severe/moderate; dbSNP:rs28933671).	F5/8 type A 2.|Plastocyanin-like 3.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.1227G>A	CCDS35457.1																																																																																				0.453	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			22	45	0	0	0	1	0	22	45				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	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_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_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			30	46	0	0	0	1	0	30	46				
ARHGAP29	9411	broad.mit.edu	37	1	94655635	94655635	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:94655635G>C	ENST00000260526.6	-	13	1468	c.1286C>G	c.(1285-1287)aCa>aGa	p.T429R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	429					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAGGTTAACTGTTACCTATGG	0.423																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1285-1287)aCa>aGa		Rho GTPase activating protein 29							77.0	70.0	72.0					1																	94655635		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94655635G>C		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1286C>G	1.37:g.94655635G>C	ENSP00000260526:p.Thr429Arg					ARHGAP29_ENST00000482481.1_5'UTR	p.T429R	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	13	1468	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	429					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.1286C>G	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994063	0.74703	.	.	ENSG00000137962	ENST00000260526	T	0.44482	0.92	6.02	5.02	0.67125	.	0.000000	0.37669	N	0.001998	T	0.56411	0.1983	M	0.76938	2.355	0.80722	D	1	D	0.67145	0.996	D	0.66351	0.943	T	0.60021	-0.7344	10	0.87932	D	0	-26.4743	13.7569	0.62942	0.0991:0.0:0.9009:0.0	.	429	Q52LW3	RHG29_HUMAN	R	429	ENSP00000260526:T429R	ENSP00000260526:T429R	T	-	2	0	ARHGAP29	94428223	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.875000	0.69660	2.850000	0.98022	0.650000	0.86243	ACA		0.423	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		5	29	0	0	0	1	0	5	29				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	35	0	0	0	1	0	3	35				
RAD9A	5883	broad.mit.edu	37	11	67163738	67163738	+	Missense_Mutation	SNP	G	G	A	rs566306211		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr11:67163738G>A	ENST00000307980.2	+	9	832	c.739G>A	c.(739-741)Gcc>Acc	p.A247T	RNU6-1238P_ENST00000517215.1_RNA|PPP1CA_ENST00000532446.1_5'Flank|RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	247					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCCCAGGCCCGCCATCTTCAC	0.632								Other conserved DNA damage response genes					g|||	1	0.000199681	0.0	0.0	5008	,	,		16040	0.0		0.0	False		,,,				2504	0.001					ENST00000307980.2																			0				lung(7)|upper_aerodigestive_tract(1)	8						c.(739-741)Gcc>Acc	Other conserved DNA damage response genes	RAD9 homolog A (S. pombe)							134.0	137.0	136.0					11																	67163738		2200	4295	6495	SO:0001583	missense	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67163738G>A	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.739G>A	11.37:g.67163738G>A	ENSP00000311360:p.Ala247Thr					RAD9A_ENST00000535644.1_3'UTR	p.A247T	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		9	832	+			247					B2RCZ8|Q6FI29|Q96C41	Missense_Mutation	SNP	ENST00000307980.2	37	c.739G>A	CCDS8159.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682004	0.47991	.	.	ENSG00000172613	ENST00000307980;ENST00000544620	T;T	0.24151	1.87;1.87	4.64	4.64	0.57946	.	0.133831	0.50627	D	0.000110	T	0.35480	0.0933	L	0.50333	1.59	0.38909	D	0.957498	D;D	0.61697	0.963;0.99	B;P	0.51974	0.269;0.686	T	0.30995	-0.9959	10	0.66056	D	0.02	-13.4715	14.4393	0.67303	0.0:0.0:1.0:0.0	.	233;247	F5H4F1;Q99638	.;RAD9A_HUMAN	T	247;233	ENSP00000311360:A247T;ENSP00000444979:A233T	ENSP00000311360:A247T	A	+	1	0	RAD9A	66920314	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	7.171000	0.77595	2.139000	0.66308	0.561000	0.74099	GCC		0.632	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		4	242	0	0	0	1	0	4	242				
XYLT1	64131	broad.mit.edu	37	16	17235124	17235124	+	Silent	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr16:17235124G>A	ENST00000261381.6	-	7	1557	c.1473C>T	c.(1471-1473)ggC>ggT	p.G491G	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	491					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.G491G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTCCGAACCGCCATCCACGG	0.572																																						ENST00000261381.6																			1	Substitution - coding silent(1)	p.G491G(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1471-1473)ggC>ggT		xylosyltransferase I							110.0	112.0	112.0					16																	17235124		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17235124G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1473C>T	16.37:g.17235124G>A							p.G491G	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			7	1557	-			491					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.1473C>T	CCDS10569.1																																																																																				0.572	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		8	159	0	0	0	1	0	8	159				
KIAA1161	57462	broad.mit.edu	37	9	34371509	34371509	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:34371509C>T	ENST00000297625.7	-	2	1556	c.1331G>A	c.(1330-1332)cGg>cAg	p.R444Q		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	478					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGGCAGCGGCCGGTAGGTGCT	0.677																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(1330-1332)cGg>cAg		KIAA1161							11.0	15.0	14.0					9																	34371509		2066	4186	6252	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34371509C>T	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1331G>A	9.37:g.34371509C>T	ENSP00000297625:p.Arg444Gln						p.R444Q	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	1556	-			478					Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.1331G>A		.	.	.	.	.	.	.	.	.	.	C	6.698	0.497409	0.12762	.	.	ENSG00000164976	ENST00000297625	D	0.91124	-2.79	5.14	2.27	0.28462	Glycoside hydrolase, superfamily (1);	0.335196	0.30159	N	0.010276	D	0.83004	0.5160	L	0.41356	1.27	0.19300	N	0.999977	B	0.18863	0.031	B	0.12837	0.008	T	0.63409	-0.6644	10	0.11182	T	0.66	-15.0887	9.7296	0.40352	0.0:0.7745:0.0:0.2255	.	478	Q6NSJ0	K1161_HUMAN	Q	444	ENSP00000297625:R444Q	ENSP00000297625:R444Q	R	-	2	0	KIAA1161	34361509	0.139000	0.22563	0.955000	0.39395	0.988000	0.76386	0.637000	0.24659	0.190000	0.20209	0.313000	0.20887	CGG		0.677	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		10	23	0	0	0	1	0	10	23				
PRMT9	90826	broad.mit.edu	37	4	148575687	148575687	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr4:148575687A>G	ENST00000322396.6	-	9	1603	c.1361T>C	c.(1360-1362)aTg>aCg	p.M454T	PRMT10_ENST00000541232.1_Missense_Mutation_p.M341T|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		454	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TACTTCCATCATCACATGGTC	0.358																																						ENST00000322396.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1360-1362)aTg>aCg		protein arginine methyltransferase 10 (putative)							65.0	68.0	67.0					4																	148575687		2203	4300	6503	SO:0001583	missense	90826					cytoplasm	binding|protein methyltransferase activity	g.chr4:148575687A>G																												ENST00000322396.6:c.1361T>C	4.37:g.148575687A>G	ENSP00000314396:p.Met454Thr					PRMT10_ENST00000541232.1_Missense_Mutation_p.M341T|TMEM184C_ENST00000508208.1_Intron	p.M454T	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN			9	1603	-			454					A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	ENST00000322396.6	37	c.1361T>C	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	A	6.838	0.523827	0.13066	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.40476	1.03;1.03	5.89	0.678	0.17969	.	0.679777	0.16657	N	0.204953	T	0.13543	0.0328	N	0.01705	-0.755	0.21386	N	0.999703	B	0.02656	0.0	B	0.01281	0.0	T	0.33111	-0.9881	10	0.02654	T	1	-5.1032	10.112	0.42568	0.5933:0.0:0.4067:0.0	.	454	Q6P2P2	ANM10_HUMAN	T	454;341	ENSP00000314396:M454T;ENSP00000439508:M341T	ENSP00000314396:M454T	M	-	2	0	PRMT10	148795137	1.000000	0.71417	0.959000	0.39883	0.982000	0.71751	3.387000	0.52501	0.137000	0.18759	0.459000	0.35465	ATG		0.358	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			19	46	0	0	0	1	0	19	46				
MYH3	4621	broad.mit.edu	37	17	10533480	10533480	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:10533480G>T	ENST00000583535.1	-	38	5578	c.5491C>A	c.(5491-5493)Cag>Aag	p.Q1831K	MYH3_ENST00000226209.7_Missense_Mutation_p.Q1831K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1831					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTCTTCTGCTCTCCCTCA	0.557																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(5491-5493)Cag>Aag		myosin, heavy chain 3, skeletal muscle, embryonic							255.0	253.0	254.0					17																	10533480		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10533480G>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5491C>A	17.37:g.10533480G>T	ENSP00000464317:p.Gln1831Lys					MYH3_ENST00000226209.7_Missense_Mutation_p.Q1831K	p.Q1831K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			38	5578	-			1831					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.5491C>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326282	0.81580	.	.	ENSG00000109063	ENST00000226209	T	0.73152	-0.72	4.83	4.83	0.62350	Myosin tail (1);	.	.	.	.	D	0.83936	0.5362	M	0.87328	2.875	0.40324	D	0.978858	P	0.44281	0.831	P	0.59643	0.861	D	0.86060	0.1531	9	0.59425	D	0.04	.	13.4497	0.61163	0.0:0.0:0.8434:0.1566	.	1831	P11055	MYH3_HUMAN	K	1831	ENSP00000226209:Q1831K	ENSP00000226209:Q1831K	Q	-	1	0	MYH3	10474205	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.664000	0.83830	2.674000	0.91012	0.655000	0.94253	CAG		0.557	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		12	325	1	0	0.0167234	1	0.0170117	12	325				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	45	0	0	0	1	0	4	45				
HLA-F	3134	broad.mit.edu	37	6	29694761	29694761	+	IGR	SNP	A	A	G			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr6:29694761A>G	ENST00000376861.1	+	0	1544				HLA-F_ENST00000440587.2_Missense_Mutation_p.S251G|HLA-F_ENST00000259951.7_Missense_Mutation_p.S380G|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGGAGTCACAGTGTCTTGGG	0.512																																						ENST00000440587.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(751-753)Agt>Ggt		major histocompatibility complex, class I, F							143.0	168.0	159.0					6																	29694761		1422	2645	4067	SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694761A>G	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694761A>G						HLA-F_ENST00000259951.7_Missense_Mutation_p.S380G|HLA-F_ENST00000475996.1_Intron	p.S251G			P30511	HLAF_HUMAN			6	1110	+			0			Alpha-3.|Ig-like C1-type.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.751A>G	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	6.615	0.481792	0.12581	.	.	ENSG00000204642	ENST00000449921;ENST00000259951;ENST00000399258;ENST00000440587	T;T	0.00808	5.67;5.72	0.62	-1.24	0.09435	.	20.562100	0.00166	U	0.000018	T	0.00241	0.0007	N	0.08118	0	0.20873	N	0.999831	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50242	-0.8851	10	0.87932	D	0	.	6.1248	0.20174	0.7862:0.0:0.2138:0.0	.	380;380	A8MVU7;P30511-3	.;.	G	357;380;294;251	ENSP00000259951:S380G;ENSP00000404130:S251G	ENSP00000259951:S380G	S	+	1	0	HLA-F	29802740	0.987000	0.35691	0.000000	0.03702	0.000000	0.00434	3.424000	0.52764	-1.365000	0.02158	-1.443000	0.01068	AGT		0.512	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		71	98	0	0	0	1	0	71	98				
ARRB2	409	broad.mit.edu	37	17	4619841	4619841	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:4619841A>C	ENST00000269260.2	+	5	528	c.295A>C	c.(295-297)Acc>Ccc	p.T99P	ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.T99P|ARRB2_ENST00000381488.6_Missense_Mutation_p.T84P|ARRB2_ENST00000575877.1_Missense_Mutation_p.T99P|ARRB2_ENST00000346341.2_Missense_Mutation_p.T84P|ARRB2_ENST00000571206.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	99					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCGGCCCCCCACCCGCCTGCA	0.682																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(295-297)Acc>Ccc		arrestin, beta 2																																				SO:0001583	missense	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619841A>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.295A>C	17.37:g.4619841A>C	ENSP00000269260:p.Thr99Pro					ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.T84P|ARRB2_ENST00000412477.3_Missense_Mutation_p.T99P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.T84P|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.T99P	p.T99P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	528	+			99					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	c.295A>C	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340849	0.81911	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.23147	1.92;1.92	4.84	4.84	0.62591	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.051921	0.85682	D	0.000000	T	0.60612	0.2282	H	0.94222	3.51	0.80722	D	1	D;D;D;B;D	0.76494	0.999;0.974;0.99;0.26;0.963	D;P;D;B;P	0.77004	0.989;0.816;0.912;0.089;0.884	T	0.71951	-0.4437	10	0.87932	D	0	-9.8224	12.4157	0.55492	1.0:0.0:0.0:0.0	.	99;84;99;84;99	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	P	99;99;84;100	ENSP00000269260:T99P;ENSP00000341895:T84P	ENSP00000269260:T99P	T	+	1	0	ARRB2	4566590	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.916000	0.75776	2.050000	0.60909	0.460000	0.39030	ACC		0.682	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		7	13	0	0	0	1	0	7	13				
SPTB	6710	broad.mit.edu	37	14	65260091	65260091	+	Missense_Mutation	SNP	G	G	A	rs376198076		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr14:65260091G>A	ENST00000389721.5	-	13	2322	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W	SPTB_ENST00000389722.3_Missense_Mutation_p.R764W|SPTB_ENST00000389720.3_Missense_Mutation_p.R764W|SPTB_ENST00000556626.1_Missense_Mutation_p.R764W|SPTB_ENST00000542895.1_Missense_Mutation_p.R764W	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	764					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GAGAGCAGCCGGTGGGCGTCT	0.612																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(2290-2292)Cgg>Tgg		spectrin, beta, erythrocytic		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	37.0	39.0	38.0		2290,2290	3.8	1.0	14		38	0,8600		0,0,4300	no	missense,missense	SPTB	NM_000347.5,NM_001024858.2	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	764/2138,764/2329	65260091	1,13005	2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65260091G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2290C>T	14.37:g.65260091G>A	ENSP00000374371:p.Arg764Trp					SPTB_ENST00000542895.1_Missense_Mutation_p.R764W|SPTB_ENST00000389720.3_Missense_Mutation_p.R764W|SPTB_ENST00000389721.5_Missense_Mutation_p.R764W|SPTB_ENST00000556626.1_Missense_Mutation_p.R764W	p.R764W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2343	-		all_lung(585;4.15e-09)	764					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.2290C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109063	0.56398	2.27E-4	0.0	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.68	3.76	0.43208	.	0.120963	0.53938	D	0.000046	T	0.67795	0.2931	M	0.81341	2.54	0.46241	D	0.99894	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.994	T	0.71414	-0.4600	10	0.87932	D	0	.	11.3001	0.49300	0.0:0.0:0.6358:0.3642	.	764;768	P11277;Q59FP5	SPTB1_HUMAN;.	W	768;764;764;764;764;764	ENSP00000374372:R764W;ENSP00000451752:R764W;ENSP00000374371:R764W;ENSP00000443882:R764W;ENSP00000374370:R764W	ENSP00000374370:R764W	R	-	1	2	SPTB	64329844	0.007000	0.16637	0.995000	0.50966	0.946000	0.59487	0.697000	0.25556	1.020000	0.39573	0.555000	0.69702	CGG		0.612	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			5	76	0	0	0	1	0	5	76				
TUBBP5	643224	broad.mit.edu	37	9	141069912	141069912	+	RNA	SNP	A	A	G			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:141069912A>G	ENST00000503395.1	+	0	1121									tubulin, beta pseudogene 5																		GTGCACCACCACGAGGCCAGC	0.662																																						ENST00000503395.1																			0																																																			0							g.chr9:141069912A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069912A>G														0	1121	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.662	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		4	8	0	0	0	1	0	4	8				
DRC7	84229	broad.mit.edu	37	16	57732851	57732851	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr16:57732851C>T	ENST00000360716.3	+	4	514	c.293C>T	c.(292-294)gCa>gTa	p.A98V	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.A98V|CCDC135_ENST00000336825.8_Missense_Mutation_p.A98V			Q8IY82	CC135_HUMAN		98					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGCAGGTGGCAGACAACTTC	0.572																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(292-294)gCa>gTa		coiled-coil domain containing 135							148.0	136.0	140.0					16																	57732851		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57732851C>T																												ENST00000360716.3:c.293C>T	16.37:g.57732851C>T	ENSP00000353942:p.Ala98Val					CCDC135_ENST00000336825.8_Missense_Mutation_p.A98V|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.A98V	p.A98V			Q8IY82	CC135_HUMAN			4	514	+			98					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.293C>T	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344341	0.82022	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.81078	-1.45;-1.45;-1.45	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.86961	0.6059	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.87578	0.998;0.785	T	0.82186	-0.0582	10	0.15952	T	0.53	-15.0382	18.8443	0.92198	0.0:1.0:0.0:0.0	.	98;98	Q8IY82-2;Q8IY82	.;CC135_HUMAN	V	98	ENSP00000377869:A98V;ENSP00000338938:A98V;ENSP00000353942:A98V	ENSP00000338938:A98V	A	+	2	0	CCDC135	56290352	1.000000	0.71417	0.991000	0.47740	0.563000	0.35712	4.461000	0.60115	2.682000	0.91365	0.643000	0.83706	GCA		0.572	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			78	156	0	0	0	1	0	78	156				
SCN4B	6330	broad.mit.edu	37	11	118014578	118014578	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr11:118014578C>T	ENST00000324727.4	-	3	579	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	SCN4B_ENST00000529878.1_Intron|SCN4B_ENST00000423160.2_5'Flank	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	145	Ig-like C2-type.				AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGATGGTGGCGTGGTGCTGG	0.547																																						ENST00000324727.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(433-435)Gcc>Acc		sodium channel, voltage-gated, type IV, beta subunit							211.0	202.0	205.0					11																	118014578		2200	4296	6496	SO:0001583	missense	6330					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118014578C>T	AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.433G>A	11.37:g.118014578C>T	ENSP00000322460:p.Ala145Thr					SCN4B_ENST00000529878.1_Intron	p.A145T	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	3	579	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	145			Ig-like C2-type.		E9PPT5|Q6PIG5	Missense_Mutation	SNP	ENST00000324727.4	37	c.433G>A	CCDS8389.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673600	0.88445	.	.	ENSG00000177098	ENST00000324727	D	0.94862	-3.54	4.44	4.44	0.53790	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96664	0.8911	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96852	0.9626	10	0.52906	T	0.07	-31.5254	15.925	0.79609	0.0:1.0:0.0:0.0	.	145	Q8IWT1	SCN4B_HUMAN	T	145	ENSP00000322460:A145T	ENSP00000322460:A145T	A	-	1	0	SCN4B	117519788	1.000000	0.71417	0.983000	0.44433	0.692000	0.40212	5.017000	0.64047	2.021000	0.59480	0.558000	0.71614	GCC		0.547	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392326.1			25	35	0	0	0	1	0	25	35				
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs62538181|rs200215881		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(3739-3741)atG>atC		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43915893G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.3741G>C	9.37:g.43915893G>C	ENSP00000366787:p.Met1247Ile						p.M1247I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			23	4134	+			1247					B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.3741G>C	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614036	0.03690	.	.	ENSG00000154529	ENST00000377564;ENST00000377555	T	0.23552	1.9	2.87	-2.82	0.05787	.	.	.	.	.	T	0.03053	0.0090	N	0.00018	-2.82	0.09310	P	0.9999999999977237	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	8	0.11794	T	0.64	.	7.2283	0.26028	0.0:0.1691:0.1448:0.6861	.	161	E9PBG0	.	I	1247;161	ENSP00000366787:M1247I	ENSP00000366778:M161I	M	+	3	0	CNTNAP3B	43855889	0.990000	0.36364	0.901000	0.35422	0.347000	0.29111	0.022000	0.13511	-1.052000	0.03222	-2.091000	0.00372	ATG		0.433	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			3	30	0	0	0	1	0	3	30				
NRK	203447	broad.mit.edu	37	X	105167230	105167230	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:105167230A>T	ENST00000243300.9	+	18	3034	c.2731A>T	c.(2731-2733)Att>Ttt	p.I911F	NRK_ENST00000428173.2_Missense_Mutation_p.I912F	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	911					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCACCTGTCATTCAGCCACC	0.418										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(2734-2736)Att>Ttt		Nik related kinase							65.0	62.0	63.0					X																	105167230		2029	4156	6185	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105167230A>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2731A>T	X.37:g.105167230A>T	ENSP00000434830:p.Ile911Phe	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.I911F	p.I912F			Q7Z2Y5	NRK_HUMAN			18	3037	+			911					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.2734A>T		.	.	.	.	.	.	.	.	.	.	a	3.286	-0.145919	0.06627	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.77750	-1.11;-1.12	3.58	-5.34	0.02705	.	1.767780	0.03434	N	0.208267	T	0.64091	0.2567	N	0.14661	0.345	0.09310	N	1	B;B	0.27791	0.189;0.036	B;B	0.29440	0.102;0.029	T	0.58567	-0.7614	10	0.59425	D	0.04	.	12.2454	0.54568	0.444:0.0:0.556:0.0	.	579;911	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	F	911;912	ENSP00000434830:I911F;ENSP00000438378:I912F	ENSP00000434830:I911F	I	+	1	0	NRK	105053886	0.022000	0.18835	0.000000	0.03702	0.147000	0.21601	-0.174000	0.09839	-2.074000	0.00877	-2.269000	0.00276	ATT		0.418	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		5	76	0	0	0	1	0	5	76				
ZNF525	170958	broad.mit.edu	37	19	53884333	53884333	+	5'Flank	SNP	T	T	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr19:53884333T>C	ENST00000355326.3	+	0	0				ZNF525_ENST00000474037.1_Silent_p.S167S|ZNF525_ENST00000467003.1_Silent_p.S131S|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						TGGAGAAGTCTATCAACGATG	0.363																																						ENST00000467003.1																			0				endometrium(3)|kidney(3)|lung(3)	9						c.(391-393)tcT>tcC		zinc finger protein 525																																				SO:0001631	upstream_gene_variant	170958							g.chr19:53884333T>C	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53884333T>C	Exception_encountered					ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Silent_p.S167S	p.S131S							4	594	+								Q8TF23	Silent	SNP	ENST00000355326.3	37	c.393T>C																																																																																					0.363	ZNF525-201	KNOWN	basic	protein_coding	protein_coding		NR_003699		57	75	0	0	0	1	0	57	75				
OR4Q3	441669	broad.mit.edu	37	14	20215861	20215861	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr14:20215861G>T	ENST00000331723.1	+	1	275	c.275G>T	c.(274-276)aGc>aTc	p.S92I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGGCAAGAGCATCTCTTTT	0.448																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(274-276)aGc>aTc		olfactory receptor, family 4, subfamily Q, member 3							70.0	72.0	71.0					14																	20215861		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215861G>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.275G>T	14.37:g.20215861G>T	ENSP00000330049:p.Ser92Ile						p.S92I	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	275	+	all_cancers(95;0.00108)		92					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.275G>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	3.191	-0.165903	0.06461	.	.	ENSG00000182652	ENST00000331723	T	0.00603	6.28	4.32	-3.02	0.05446	GPCR, rhodopsin-like superfamily (1);	0.590062	0.13588	N	0.376815	T	0.00384	0.0012	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42103	-0.9471	10	0.59425	D	0.04	.	6.687	0.23150	0.0:0.2977:0.1341:0.5682	.	92	Q8NH05	OR4Q3_HUMAN	I	92	ENSP00000330049:S92I	ENSP00000330049:S92I	S	+	2	0	OR4Q3	19285701	0.000000	0.05858	0.464000	0.27143	0.498000	0.33706	-0.933000	0.03959	-0.535000	0.06307	-1.308000	0.01314	AGC		0.448	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			6	48	1	0	5.9392e-07	1	6.14759e-07	6	48				
LRRTM3	347731	broad.mit.edu	37	10	68857549	68857549	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr10:68857549G>A	ENST00000361320.4	+	3	2319	c.1741G>A	c.(1741-1743)Gct>Act	p.A581T	LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	581					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ACAGCAGCTAGCTTAACTGAG	0.448																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(1741-1743)Gct>Act		leucine rich repeat transmembrane neuronal 3							110.0	96.0	101.0					10																	68857549		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68857549G>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1741G>A	10.37:g.68857549G>A	ENSP00000355187:p.Ala581Thr					CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000373744.4_Intron	p.A581T	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			3	2319	+			581					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.1741G>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678687	0.47886	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.47528	0.84	5.62	4.72	0.59763	.	0.139601	0.32884	N	0.005537	T	0.29028	0.0721	N	0.08118	0	0.30756	N	0.744614	B	0.11235	0.004	B	0.04013	0.001	T	0.29518	-1.0009	10	0.87932	D	0	.	12.2532	0.54610	0.0802:0.0:0.9198:0.0	.	581	Q86VH5	LRRT3_HUMAN	T	581	ENSP00000355187:A581T	ENSP00000355187:A581T	A	+	1	0	LRRTM3	68527555	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.198000	0.32223	1.524000	0.49035	0.650000	0.86243	GCT		0.448	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		4	69	0	0	0	1	0	4	69				
ANKLE2	23141	broad.mit.edu	37	12	133313477	133313477	+	Splice_Site	SNP	A	A	C			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:133313477A>C	ENST00000357997.5	-	8	1683		c.e8+1		ANKLE2_ENST00000337516.5_Splice_Site|ANKLE2_ENST00000539605.1_Splice_Site|ANKLE2_ENST00000542374.1_5'Flank	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2						mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ACAGCAGCTCACCTTGGCTGG	0.622																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.e7+1		ankyrin repeat and LEM domain containing 2							70.0	82.0	78.0					12																	133313477		2047	4192	6239	SO:0001630	splice_region_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133313477A>C	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1593+1T>G	12.37:g.133313477A>C						ANKLE2_ENST00000337516.5_Splice_Site|ANKLE2_ENST00000357997.5_Splice_Site				Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	7	8092	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)						A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Splice_Site	SNP	ENST00000357997.5	37		CCDS41869.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.707957	0.48412	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000535036	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0459	0.80720	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKLE2	131823550	1.000000	0.71417	0.999000	0.59377	0.457000	0.32468	5.382000	0.66213	2.250000	0.74265	0.533000	0.62120	.		0.622	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1		Intron	12	160	0	0	0	1	0	12	160				
ESX1	80712	broad.mit.edu	37	X	103495293	103495293	+	Silent	SNP	G	G	A			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:103495293G>A	ENST00000372588.4	-	4	920	c.837C>T	c.(835-837)ggC>ggT	p.G279G		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	279	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CCATGCGTGAGCCGGGTGGCA	0.716																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(835-837)ggC>ggT		ESX homeobox 1							41.0	43.0	42.0					X																	103495293		2202	4298	6500	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495293G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.837C>T	X.37:g.103495293G>A							p.G279G	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			4	920	-			279			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.837C>T	CCDS14516.1																																																																																				0.716	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		6	121	0	0	0	1	0	6	121				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	50	0	0	0	1	0	4	50				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	108	0	0	0	1	0	4	108				
VSIG4	11326	broad.mit.edu	37	X	65253352	65253352	+	Missense_Mutation	SNP	C	C	T	rs141882052	byFrequency	TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:65253352C>T	ENST00000374737.4	-	2	484	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	VSIG4_ENST00000455586.2_Missense_Mutation_p.V126M|VSIG4_ENST00000412866.2_Missense_Mutation_p.V126M	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	126	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTATCTCTCACGACTTGGTTG	0.483																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(376-378)Gtg>Atg		V-set and immunoglobulin domain containing 4		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,3834		0,1,0,1631,571	137.0	121.0	126.0		376,376,376,376	-1.4	0.0	X	dbSNP_134	126	1,6727		0,0,1,2428,1871	no	missense,missense,missense,missense	VSIG4	NM_001100431.1,NM_001184830.1,NM_001184831.1,NM_007268.2	21,21,21,21	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	probably-damaging,probably-damaging,probably-damaging,probably-damaging	126/306,126/322,126/228,126/400	65253352	2,10561	2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253352C>T	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.376G>A	X.37:g.65253352C>T	ENSP00000363869:p.Val126Met					VSIG4_ENST00000412866.2_Missense_Mutation_p.V126M|VSIG4_ENST00000374737.4_Missense_Mutation_p.V126M	p.V126M	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN			2	502	-			126			Ig-like 1.		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.376G>A	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.601|9.601	1.128727|1.128727	0.21041|0.21041	2.61E-4|2.61E-4	1.49E-4|1.49E-4	ENSG00000155659|ENSG00000155659	ENST00000427538|ENST00000374737;ENST00000455586;ENST00000412866	.|T;T;T	.|0.04603	.|3.59;3.59;3.59	4.76|4.76	-1.38|-1.38	0.09027|0.09027	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|1.132160	.|0.06591	.|N	.|0.751996	T|T	0.15522|0.15522	0.0374|0.0374	M|M	0.65498|0.65498	2.005|2.005	0.09310|0.09310	N|N	1|1	.|P;D;D;B;D	.|0.89917	.|0.467;0.999;1.0;0.412;0.999	.|B;P;D;B;D	.|0.65443	.|0.034;0.838;0.935;0.02;0.931	T|T	0.28681|0.28681	-1.0036|-1.0036	5|10	.|0.41790	.|T	.|0.15	-0.1047|-0.1047	8.807|8.807	0.34943|0.34943	0.0:0.3735:0.0:0.6265|0.0:0.3735:0.0:0.6265	.|.	.|126;126;116;126;126	.|C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.|.;.;.;.;VSIG4_HUMAN	H|M	52|126	.|ENSP00000363869:V126M;ENSP00000411581:V126M;ENSP00000394143:V126M	.|ENSP00000363869:V126M	R|V	-|-	2|1	0|0	VSIG4|VSIG4	65170077|65170077	0.000000|0.000000	0.05858|0.05858	0.010000|0.010000	0.14722|0.14722	0.020000|0.020000	0.10135|0.10135	-0.189000|-0.189000	0.09629|0.09629	-0.253000|-0.253000	0.09514|0.09514	0.513000|0.513000	0.50165|0.50165	CGT|GTG		0.483	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		83	131	0	0	0	1	0	83	131				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		6	53	0	0	0	1	0	6	53				
MYH10	4628	broad.mit.edu	37	17	8383821	8383821	+	Missense_Mutation	SNP	G	G	A	rs150332952	byFrequency	TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:8383821G>A	ENST00000269243.4	-	37	5332	c.5194C>T	c.(5194-5196)Cgg>Tgg	p.R1732W	MYH10_ENST00000396239.1_Missense_Mutation_p.R1753W|MYH10_ENST00000379980.4_Missense_Mutation_p.R1748W|MYH10_ENST00000360416.3_Missense_Mutation_p.R1763W|NDEL1_ENST00000299734.7_Missense_Mutation_p.R328H	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1732					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCAGACGCCGCTTCTCATCC	0.632																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(5287-5289)Cgg>Tgg		myosin, heavy chain 10, non-muscle							53.0	38.0	43.0					17																	8383821		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8383821G>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5194C>T	17.37:g.8383821G>A	ENSP00000269243:p.Arg1732Trp					MYH10_ENST00000396239.1_Missense_Mutation_p.R1753W|MYH10_ENST00000379980.4_Missense_Mutation_p.R1748W|MYH10_ENST00000269243.4_Missense_Mutation_p.R1732W|NDEL1_ENST00000299734.7_Missense_Mutation_p.R328H	p.R1763W	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			39	5425	-			1732					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.5287C>T	CCDS11144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.502670|4.502670	0.85176|0.85176	.|.	.|.	ENSG00000166579|ENSG00000133026	ENST00000299734|ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	.|D;D;D;D	.|0.82081	.|-1.57;-1.57;-1.57;-1.57	4.81|4.81	4.81|4.81	0.61882|0.61882	.|Myosin tail (1);	0.000000|0.000000	0.38663|0.38663	N|N	0.001603|0.001603	D|D	0.93035|0.93035	0.7783|0.7783	M|M	0.94142|0.94142	3.5|3.5	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.94263|0.94263	0.7504|0.7504	7|10	0.37606|0.87932	T|D	0.19|0	.|.	13.4022|13.4022	0.60889|0.60889	0.0:0.0:0.8429:0.1571|0.0:0.0:0.8429:0.1571	.|.	.|1741;1763;1732	.|B2RWP9;F8VTL3;P35580	.|.;.;MYH10_HUMAN	H|W	328|1732;1763;1753;1748	.|ENSP00000269243:R1732W;ENSP00000353590:R1763W;ENSP00000379539:R1753W;ENSP00000369315:R1748W	ENSP00000299734:R328H|ENSP00000269243:R1732W	R|R	+|-	2|1	0|2	NDEL1|MYH10	8324546|8324546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	2.769000|2.769000	0.47654|0.47654	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	CGC|CGG		0.632	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			3	27	0	0	0	1	0	3	27				
TRIM55	84675	broad.mit.edu	37	8	67086746	67086746	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr8:67086746C>T	ENST00000315962.4	+	10	1938	c.1565C>T	c.(1564-1566)gCt>gTt	p.A522V	TRIM55_ENST00000353317.5_Missense_Mutation_p.A426V|TRIM55_ENST00000276573.7_3'UTR|TRIM55_ENST00000350034.4_Missense_Mutation_p.A215V	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	522					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CAGGCTGCAGCTCCAGCGAGT	0.478																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(1564-1566)gCt>gTt		tripartite motif containing 55							115.0	113.0	114.0					8																	67086746		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67086746C>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1565C>T	8.37:g.67086746C>T	ENSP00000323913:p.Ala522Val					TRIM55_ENST00000350034.4_Missense_Mutation_p.A215V|TRIM55_ENST00000353317.5_Missense_Mutation_p.A426V|TRIM55_ENST00000276573.7_3'UTR	p.A522V	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		10	1938	+		Lung NSC(129;0.138)|all_lung(136;0.221)	522					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.1565C>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310302	0.60414	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000350034	T;T;T	0.53423	1.25;1.4;0.62	5.74	5.74	0.90152	.	0.000000	0.48286	D	0.000193	T	0.46092	0.1375	N	0.24115	0.695	0.25266	N	0.989552	B;D;D	0.56521	0.357;0.961;0.976	B;P;P	0.52066	0.246;0.689;0.629	T	0.45556	-0.9253	10	0.72032	D	0.01	.	14.2222	0.65836	0.1488:0.8512:0.0:0.0	.	215;426;522	Q9BYV6-4;Q9BYV6-2;Q9BYV6	.;.;TRI55_HUMAN	V	522;426;215	ENSP00000323913:A522V;ENSP00000297348:A426V;ENSP00000332302:A215V	ENSP00000323913:A522V	A	+	2	0	TRIM55	67249300	0.998000	0.40836	1.000000	0.80357	0.957000	0.61999	1.689000	0.37700	2.873000	0.98535	0.563000	0.77884	GCT		0.478	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		39	96	0	0	0	1	0	39	96				
RIPK3	11035	broad.mit.edu	37	14	24808742	24808742	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr14:24808742C>T	ENST00000216274.5	-	2	300	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	RIPK3_ENST00000554338.1_5'UTR|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	28	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CCGCCTTTGCCGACGAGCTCC	0.652																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(82-84)Ggc>Agc		receptor-interacting serine-threonine kinase 3							103.0	105.0	104.0					14																	24808742		2203	4300	6503	SO:0001583	missense	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24808742C>T	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.82G>A	14.37:g.24808742C>T	ENSP00000216274:p.Gly28Ser					RIPK3_ENST00000554338.1_5'UTR	p.G28S	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	300	-			28			Protein kinase.		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	c.82G>A	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066059	0.76187	.	.	ENSG00000129465	ENST00000216274	D	0.82526	-1.62	4.85	3.97	0.46021	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.320094	0.22959	N	0.053577	D	0.85673	0.5751	M	0.75777	2.31	0.09310	N	1	D;D	0.58970	0.98;0.984	P;P	0.52343	0.696;0.634	T	0.78342	-0.2241	10	0.62326	D	0.03	-17.9574	9.2416	0.37500	0.0:0.901:0.0:0.099	.	28;28	B4DJZ5;Q9Y572	.;RIPK3_HUMAN	S	28	ENSP00000216274:G28S	ENSP00000216274:G28S	G	-	1	0	RIPK3	23878582	0.000000	0.05858	0.030000	0.17652	0.006000	0.05464	0.602000	0.24134	1.265000	0.44215	0.561000	0.74099	GGC		0.652	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		5	215	0	0	0	1	0	5	215				
HYOU1	10525	broad.mit.edu	37	11	118919446	118919446	+	Silent	SNP	C	C	T			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr11:118919446C>T	ENST00000404233.3	-	18	2269	c.2145G>A	c.(2143-2145)aaG>aaA	p.K715K	HYOU1_ENST00000529972.1_Silent_p.K653K|HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000525859.1_Silent_p.K653K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	715					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACTGAGCCAGCTTATCCTCTG	0.592																																						ENST00000404233.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33						c.(2143-2145)aaG>aaA		hypoxia up-regulated 1							117.0	103.0	108.0					11																	118919446		2200	4295	6495	SO:0001819	synonymous_variant	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118919446C>T	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2145G>A	11.37:g.118919446C>T						HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000525859.1_Silent_p.K653K|HYOU1_ENST00000529972.1_Silent_p.K653K	p.K715K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	18	2269	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	715					A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	ENST00000404233.3	37	c.2145G>A	CCDS8408.1																																																																																				0.592	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		11	114	0	0	0	1	0	11	114				
RAB3GAP2	25782	broad.mit.edu	37	1	220344243	220344245	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:220344243_220344245delCTT	ENST00000358951.2	-	24	2911_2913	c.2795_2797delAAG	c.(2794-2799)gaagga>gga	p.E932del		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	932					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTTTCCTCCTTCTAATAACTT	0.389																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(2794-2799)gga>g		RAB3 GTPase activating protein subunit 2 (non-catalytic)																																				SO:0001651	inframe_deletion	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220344243_220344245delCTT	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2795_2797delAAG	1.37:g.220344243_220344245delCTT	ENSP00000351832:p.Glu932del						p.EG932del	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	24	2911_2913	-			932					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	In_Frame_Del	DEL	ENST00000358951.2	37	c.2795_2797delAAG	CCDS31028.1																																																																																				0.389	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		20	41						20	41	---	---	---	---
TTC7A	57217	broad.mit.edu	37	2	47233147	47233149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:47233147_47233149delCCT	ENST00000319190.5	+	9	1520_1522	c.1152_1154delCCT	c.(1150-1155)gacctc>gac	p.L386del	TTC7A_ENST00000409245.1_In_Frame_Del_p.L352del|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_In_Frame_Del_p.L32del|TTC7A_ENST00000394850.2_In_Frame_Del_p.L386del	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	386					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCATCTATGACCTCCTGAGCATC	0.626																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1150-1155)gac>ga		tetratricopeptide repeat domain 7A																																				SO:0001651	inframe_deletion	57217						binding	g.chr2:47233147_47233149delCCT	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1152_1154delCCT	2.37:g.47233150_47233152delCCT	ENSP00000316699:p.Leu386del					TTC7A_ENST00000263737.6_In_Frame_Del_p.DL30del|TTC7A_ENST00000394850.2_In_Frame_Del_p.DL384del|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_In_Frame_Del_p.DL350del	p.DL384del	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		9	1520_1522	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	384					Q6PIX4|Q8ND67|Q9BUS3	In_Frame_Del	DEL	ENST00000319190.5	37	c.1152_1154delCCT	CCDS33193.1																																																																																				0.626	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		8	74						8	74	---	---	---	---
MED15P9	285103	broad.mit.edu	37	2	130893081	130893081	+	RNA	DEL	A	A	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:130893081delA	ENST00000427638.1	+	0	542					NR_033903.1				mediator complex subunit 15 pseudogene 9																		actccatctcaaaaaaaaaaa	0.562																																						ENST00000427638.1																			0																																																			0							g.chr2:130893081delA	BC036597		2q21.1	2014-05-06	2013-08-13	2013-08-13	ENSG00000223760	ENSG00000223760			44130	pseudogene	pseudogene			"""CCDC74B antisense RNA 1 (non-protein coding)"", ""CCDC74B antisense RNA 1"""	CCDC74B-AS1			Standard	NR_033903		Approved		uc021voa.1				2.37:g.130893081delA								NR_033903.1						0	542	+									RNA	DEL	ENST00000427638.1	37																																																																																						0.562	MED15P9-002	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000470767.1	NR_033903		2	4						2	4	---	---	---	---
SRPRB	58477	broad.mit.edu	37	3	133525498	133525500	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr3:133525498_133525500delTTC	ENST00000466490.2	+	3	485_487	c.200_202delTTC	c.(199-204)gttctt>gtt	p.L69del		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	69					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CAGAGAGCTGTTCTTCTTGTTGG	0.399																																						ENST00000466490.2																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						c.(199-204)gtt>g		signal recognition particle receptor, B subunit																																				SO:0001651	inframe_deletion	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133525498_133525500delTTC	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.200_202delTTC	3.37:g.133525501_133525503delTTC	ENSP00000418401:p.Leu69del						p.VL67del	NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN			3	485_487	+			67					Q6P595|Q8N2D8	In_Frame_Del	DEL	ENST00000466490.2	37	c.200_202delTTC	CCDS3081.1																																																																																				0.399	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2			20	53						20	53	---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|RP11-460I19.2_ENST00000503095.1_lincRNA			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1435-1437)cfs		fibroblast growth factor receptor-like 1																																				SO:0001589	frameshift_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019055_1019056delCA		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs					FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs	p.H479fs			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	2015_2016	+			479			His-rich.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	ENST00000398484.2	37	c.1435_1436delCA	CCDS3344.1																																																																																				0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		4	9						4	9	---	---	---	---
GIN1	54826	broad.mit.edu	37	5	102440512	102440513	+	Frame_Shift_Del	DEL	TG	TG	-	rs181329325		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr5:102440512_102440513delTG	ENST00000399004.2	-	4	465_466	c.371_372delCA	c.(370-372)acafs	p.T124fs	GIN1_ENST00000508629.1_Frame_Shift_Del_p.T124fs|GIN1_ENST00000511400.1_5'Flank	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	124					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTACAATAACTGTATTTTTTGC	0.386																																						ENST00000399004.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(370-372)afs		gypsy retrotransposon integrase 1																																				SO:0001589	frameshift_variant	54826				DNA integration		DNA binding	g.chr5:102440512_102440513delTG	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.371_372delCA	5.37:g.102440512_102440513delTG	ENSP00000381970:p.Thr124fs					GIN1_ENST00000508629.1_Frame_Shift_Del_p.T124fs	p.T124fs	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	4	465_466	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	124					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Frame_Shift_Del	DEL	ENST00000399004.2	37	c.371_372delCA	CCDS43349.1																																																																																				0.386	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		9	60						9	60	---	---	---	---
LOC403323	403323	broad.mit.edu	37	9	66545704	66545704	+	lincRNA	DEL	C	C	-	rs12353356|rs200777983	byFrequency	TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:66545704delC	ENST00000445604.2	-	0	669																											GAAAAAAAAACAAAGAAAGAA	0.373																																						ENST00000445604.2																			0																																																			0							g.chr9:66545704delC																													9.37:g.66545704delC														0	669	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.373	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			2	4						2	4	---	---	---	---
LDLRAD3	143458	broad.mit.edu	37	11	36057651	36057652	+	Splice_Site	DEL	AG	AG	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr11:36057651_36057652delAG	ENST00000315571.5	+	2	67		c.e2-1		LDLRAD3_ENST00000524419.1_Intron|LDLRAD3_ENST00000528989.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3						receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TCTCTCTGACAGAGAGCCAGCT	0.574																																						ENST00000315571.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28						c.e2-1		low density lipoprotein receptor class A domain containing 3																																				SO:0001630	splice_region_variant	143458					integral to membrane	receptor activity	g.chr11:36057651_36057652delAG	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.47-1AG>-	11.37:g.36057655_36057656delAG						LDLRAD3_ENST00000528989.1_Intron|LDLRAD3_ENST00000524419.1_Intron		NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN			2	67	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)						B7Z1U3|B9EG81|Q8NBJ0	Splice_Site	DEL	ENST00000315571.5	37		CCDS31462.1																																																																																				0.574	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902	Intron	10	72						10	72	---	---	---	---
DUSP16	80824	broad.mit.edu	37	12	12673837	12673840	+	Frame_Shift_Del	DEL	TAAT	TAAT	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:12673837_12673840delTAAT	ENST00000228862.2	-	2	824_827	c.193_196delATTA	c.(193-198)attacafs	p.IT65fs	DUSP16_ENST00000298573.4_Frame_Shift_Del_p.IT65fs	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	65	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ATGAGCTCTGTAATTAACACTTTG	0.377																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(193-198)cafs		dual specificity phosphatase 16																																				SO:0001589	frameshift_variant	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12673837_12673840delTAAT	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.193_196delATTA	12.37:g.12673837_12673840delTAAT	ENSP00000228862:p.Ile65fs					DUSP16_ENST00000298573.4_Frame_Shift_Del_p.IT65fs	p.IT65fs	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	2	824_827	-		Prostate(47;0.0687)	65			Rhodanese.		Q547C7|Q96QS2|Q9C0G3	Frame_Shift_Del	DEL	ENST00000228862.2	37	c.193_196delATTA	CCDS8650.1																																																																																				0.377	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		7	101						7	101	---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67704094	67704094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:67704094delA	ENST00000545606.1	+	13	3795	c.3358delA	c.(3358-3360)aagfs	p.K1120fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1120					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTATGATATTAAGGTAAGATG	0.328																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(3358-3360)agfs		cullin-associated and neddylation-dissociated 1							111.0	107.0	108.0					12																	67704094		2203	4299	6502	SO:0001589	frameshift_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67704094delA		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3358delA	12.37:g.67704094delA	ENSP00000442318:p.Lys1120fs						p.K1120fs	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	13	3795	+			1120					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Frame_Shift_Del	DEL	ENST00000545606.1	37	c.3358delA	CCDS8977.1																																																																																				0.328	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		21	26						21	26	---	---	---	---
