#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	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	p.R273C	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)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	10	0	0	0	1	0	23	10				
UBXN10	127733	broad.mit.edu	37	1	20517773	20517773	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:20517773G>A	ENST00000375099.3	+	2	803	c.719G>A	c.(718-720)aGc>aAc	p.S240N		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	240	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CGACACTGCAGCATTGAAACA	0.502																																						ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(718-720)aGc>aAc		UBX domain protein 10							73.0	74.0	74.0					1																	20517773		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517773G>A	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.719G>A	1.37:g.20517773G>A	ENSP00000364240:p.Ser240Asn						p.S240N	NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN			2	803	+			240			UBX.		Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.719G>A	CCDS205.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689965	0.68271	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.98	5.06	0.68205	UBX (3);	0.153604	0.42682	D	0.000666	T	0.74253	0.3692	L	0.60455	1.87	0.38547	D	0.949376	D	0.76494	0.999	D	0.69824	0.966	T	0.74475	-0.3653	9	0.29301	T	0.29	-13.1094	15.5127	0.75795	0.0:0.0:0.861:0.139	.	240	Q96LJ8	UBX10_HUMAN	N	240	.	ENSP00000364240:S240N	S	+	2	0	UBXN10	20390360	0.983000	0.35010	0.997000	0.53966	0.979000	0.70002	1.996000	0.40776	1.511000	0.48818	0.591000	0.81541	AGC		0.502	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		3	83	0	0	0	1	0	3	83				
RTEL1	51750	broad.mit.edu	37	20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	rs398123018		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr20:62324513C>T	ENST00000360203.5	+	30	3194	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000318100.4_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2869-2871)Cgg>Tgg		regulator of telomere elongation helicase 1							105.0	112.0	110.0					20																	62324513		2198	4293	6491	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324513C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2869C>T	20.37:g.62324513C>T	ENSP00000353332:p.Arg957Trp					RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W	p.R957W			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		30	3696	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		957						Missense_Mutation	SNP	ENST00000360203.5	37	c.2869C>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.130295	0.56721	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.71581	2.175	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.991;0.995	T	0.09596	-1.0667	10	0.87932	D	0	-22.5328	16.6576	0.85232	0.0:1.0:0.0:0.0	.	981;202;957;957	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	W	957;957;981;957;202	ENSP00000359035:R957W;ENSP00000322287:R957W;ENSP00000424307:R981W;ENSP00000353332:R957W;ENSP00000359020:R202W	ENSP00000353332:R957W	R	+	1	2	AL353715.1	61794957	0.995000	0.38212	0.946000	0.38457	0.033000	0.12548	3.313000	0.51935	2.220000	0.72140	0.289000	0.19496	CGG		0.597	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		5	136	0	0	0	1	0	5	136				
IL16	3603	broad.mit.edu	37	15	81598375	81598375	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:81598375C>T	ENST00000302987.4	+	16	3547	c.3547C>T	c.(3547-3549)Cgc>Tgc	p.R1183C	IL16_ENST00000394652.2_Missense_Mutation_p.R482C|IL16_ENST00000394660.2_Missense_Mutation_p.R1183C|RP11-761I4.4_ENST00000607019.1_RNA			Q14005	IL16_HUMAN	interleukin 16	1183	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1183C(1)|p.R1137C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGCCATCCTCCGCCAAGCTCG	0.582																																						ENST00000394660.2																			2	Substitution - Missense(2)	p.R1183C(1)|p.R1137C(1)	endometrium(2)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(3547-3549)Cgc>Tgc		interleukin 16							138.0	140.0	139.0					15																	81598375		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81598375C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3547C>T	15.37:g.81598375C>T	ENSP00000302935:p.Arg1183Cys					IL16_ENST00000302987.4_Missense_Mutation_p.R1183C|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.R482C	p.R1183C	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			17	3907	+			1183			Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3547C>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866262	0.51588	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.31769	1.48;1.48;1.48	4.64	4.64	0.57946	PDZ/DHR/GLGF (4);	0.000000	0.47455	D	0.000226	T	0.69214	0.3086	H	0.96430	3.82	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;0.996	T	0.81252	-0.1017	10	0.87932	D	0	.	17.6977	0.88286	0.0:1.0:0.0:0.0	.	1015;676;573;1183;1183	F8W7Z5;Q6ZTT5;B3KY62;Q14005;Q14005-2	.;.;.;IL16_HUMAN;.	C	1183;1015;1183;573;482;482	ENSP00000378155:R1183C;ENSP00000302935:R1183C;ENSP00000378147:R482C	ENSP00000302935:R1183C	R	+	1	0	IL16	79385430	1.000000	0.71417	0.980000	0.43619	0.002000	0.02628	4.123000	0.57917	2.386000	0.81285	0.655000	0.94253	CGC		0.582	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		18	108	0	0	0	1	0	18	108				
LRFN1	57622	broad.mit.edu	37	19	39798915	39798915	+	Silent	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:39798915G>C	ENST00000248668.4	-	2	1673	c.1674C>G	c.(1672-1674)cgC>cgG	p.R558R		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	558						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACACCTTATAGCGGATCATGA	0.657																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1672-1674)cgC>cgG		leucine rich repeat and fibronectin type III domain containing 1							26.0	32.0	30.0					19																	39798915		2170	4279	6449	SO:0001819	synonymous_variant	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39798915G>C	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1674C>G	19.37:g.39798915G>C							p.R558R	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	1673	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		558					Q8TBS9	Silent	SNP	ENST00000248668.4	37	c.1674C>G	CCDS46071.1																																																																																				0.657	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		6	17	0	0	0	1	0	6	17				
CHST11	50515	broad.mit.edu	37	12	105151362	105151362	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:105151362G>C	ENST00000303694.5	+	3	1279	c.840G>C	c.(838-840)gaG>gaC	p.E280D	CHST11_ENST00000549260.1_Missense_Mutation_p.E275D	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	280					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GCAAGTACGAGACACTGGAAG	0.532																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(838-840)gaG>gaC		carbohydrate (chondroitin 4) sulfotransferase 11							120.0	102.0	108.0					12																	105151362		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151362G>C	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.840G>C	12.37:g.105151362G>C	ENSP00000305725:p.Glu280Asp					CHST11_ENST00000549260.1_Missense_Mutation_p.E275D	p.E280D	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	1279	+			280					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.840G>C	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716101	0.68844	.	.	ENSG00000171310	ENST00000549260;ENST00000303694	T;T	0.79749	-1.3;-1.3	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.86192	0.5874	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.974;0.995	D	0.85555	0.1224	10	0.46703	T	0.11	4.7601	9.4459	0.38697	0.1629:0.0:0.8371:0.0	.	275;280	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	D	275;280	ENSP00000450004:E275D;ENSP00000305725:E280D	ENSP00000305725:E280D	E	+	3	2	CHST11	103675492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.198000	0.58419	2.527000	0.85204	0.555000	0.69702	GAG		0.532	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		7	10	0	0	0	1	0	7	10				
LRRC8E	80131	broad.mit.edu	37	19	7960545	7960545	+	Silent	SNP	G	G	T	rs143317661	byFrequency	TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:7960545G>T	ENST00000306708.6	+	2	158	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	19					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGTTCAAGGTGCTCAAACCCT	0.627																																						ENST00000306708.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(55-57)gtG>gtT		leucine rich repeat containing 8 family, member E							154.0	109.0	124.0					19																	7960545		2203	4300	6503	SO:0001819	synonymous_variant	80131					integral to membrane		g.chr19:7960545G>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.57G>T	19.37:g.7960545G>T							p.V19V	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			2	158	+			19					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	c.57G>T	CCDS12189.1																																																																																				0.627	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		3	43	1	0	1	1	1	3	43				
UGT2B4	7363	broad.mit.edu	37	4	70352368	70352368	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr4:70352368T>G	ENST00000305107.6	-	4	1095	c.1049A>C	c.(1048-1050)aAt>aCt	p.N350T	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.N214T|UGT2B4_ENST00000512583.1_Missense_Mutation_p.N350T	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	350					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CAGCCGAGTATTGAGTCCTAA	0.343																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1048-1050)aAt>aCt		UDP glucuronosyltransferase 2 family, polypeptide B4							140.0	143.0	142.0					4																	70352368		2203	4299	6502	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70352368T>G	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1049A>C	4.37:g.70352368T>G	ENSP00000305221:p.Asn350Thr					UGT2B4_ENST00000512583.1_Missense_Mutation_p.N350T|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.N214T	p.N350T	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			4	1095	-			350					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1049A>C	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.724466	0.48728	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.68479	-0.33;-0.33;2.83	1.97	1.97	0.26223	.	0.000000	0.85682	U	0.000000	D	0.86041	0.5838	H	0.98487	4.245	0.30534	N	0.767149	D;D;D	0.71674	0.998;0.996;0.995	D;D;D	0.79784	0.993;0.954;0.982	T	0.82499	-0.0427	10	0.87932	D	0	.	7.869	0.29554	0.0:0.0:0.0:1.0	.	214;350;350	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	T	350;350;214	ENSP00000421290:N350T;ENSP00000305221:N350T;ENSP00000370486:N214T	ENSP00000305221:N350T	N	-	2	0	UGT2B4	70386957	1.000000	0.71417	0.157000	0.22605	0.010000	0.07245	6.593000	0.74100	1.173000	0.42796	0.260000	0.18958	AAT		0.343	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		55	107	0	0	0	1	0	55	107				
OR52M1	119772	broad.mit.edu	37	11	4567291	4567291	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr11:4567291A>T	ENST00000360213.1	+	1	871	c.871A>T	c.(871-873)Aat>Tat	p.N291Y		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCAATCCTCAATCCCATTGT	0.453																																						ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(871-873)Aat>Tat		olfactory receptor, family 52, subfamily M, member 1							142.0	131.0	135.0					11																	4567291		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4567291A>T	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.871A>T	11.37:g.4567291A>T	ENSP00000353343:p.Asn291Tyr						p.N291Y	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	871	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	291						Missense_Mutation	SNP	ENST00000360213.1	37	c.871A>T	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085218	0.76642	.	.	ENSG00000197790	ENST00000360213	T	0.59638	0.25	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000112	D	0.84875	0.5569	H	0.98738	4.315	0.48452	D	0.999655	D	0.89917	1.0	D	0.91635	0.999	D	0.90194	0.4252	10	0.87932	D	0	.	12.8007	0.57584	1.0:0.0:0.0:0.0	.	291	Q8NGK5	O52M1_HUMAN	Y	291	ENSP00000353343:N291Y	ENSP00000353343:N291Y	N	+	1	0	OR52M1	4523867	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.219000	0.78000	2.181000	0.69327	0.533000	0.62120	AAT		0.453	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		27	23	0	0	0	1	0	27	23				
EIF4G3	8672	broad.mit.edu	37	1	21181494	21181494	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:21181494C>T	ENST00000264211.8	-	20	3436	c.3242G>A	c.(3241-3243)gGt>gAt	p.G1081D	EIF4G3_ENST00000602326.1_Missense_Mutation_p.G1087D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G1087D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G1081D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.G685D|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G801D|EIF4G3_ENST00000537738.1_Missense_Mutation_p.G571D	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1081					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTTTGCTCCACCACTGCTGCC	0.473																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(3259-3261)gGt>gAt		eukaryotic translation initiation factor 4 gamma, 3							268.0	218.0	235.0					1																	21181494		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21181494C>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3242G>A	1.37:g.21181494C>T	ENSP00000264211:p.Gly1081Asp					EIF4G3_ENST00000536266.1_Missense_Mutation_p.G685D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G1081D|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G801D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G1087D|EIF4G3_ENST00000264211.8_Missense_Mutation_p.G1081D|EIF4G3_ENST00000537738.1_Missense_Mutation_p.G571D	p.G1087D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	24	3843	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1081					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.3260G>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246119	0.95272	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.09445	3.45;3.45;3.34;2.98;3.45;3.16	5.65	5.65	0.86999	.	0.050938	0.85682	D	0.000000	T	0.32133	0.0819	L	0.56340	1.77	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.992;0.973;0.996;0.999;0.989	T	0.00484	-1.1712	10	0.87932	D	0	-14.8364	20.1613	0.98135	0.0:1.0:0.0:0.0	.	1276;801;685;1087;1081	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	D	1081;1277;1081;801;571;1087;685	ENSP00000264211:G1081D;ENSP00000383274:G1081D;ENSP00000364071:G801D;ENSP00000442010:G571D;ENSP00000364073:G1087D;ENSP00000444693:G685D	ENSP00000264211:G1081D	G	-	2	0	EIF4G3	21054081	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.262000	0.78410	2.835000	0.97688	0.650000	0.86243	GGT		0.473	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		43	55	0	0	0	1	0	43	55				
SLC38A10	124565	broad.mit.edu	37	17	79249788	79249788	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:79249788G>A	ENST00000374759.3	-	8	1276	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SLC38A10_ENST00000288439.5_Missense_Mutation_p.T298M|SLC38A10_ENST00000546352.1_5'UTR	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	298					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACACAGCAGCGTGCTCAGGGC	0.612																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(892-894)aCg>aTg		solute carrier family 38, member 10							99.0	91.0	93.0					17																	79249788		2203	4300	6503	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79249788G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.893C>T	17.37:g.79249788G>A	ENSP00000363891:p.Thr298Met					SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Missense_Mutation_p.T298M	p.T298M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		8	1276	-	all_neural(118;0.0804)|Melanoma(429;0.242)		298					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.893C>T	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302755	0.81136	.	.	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.02446	4.29;4.29	4.88	4.88	0.63580	.	0.155995	0.56097	D	0.000030	T	0.11495	0.0280	L	0.47716	1.5	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.975;0.997	T	0.03534	-1.1027	10	0.49607	T	0.09	-27.3815	17.6417	0.88138	0.0:0.0:1.0:0.0	.	298;298	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	M	298	ENSP00000363891:T298M;ENSP00000288439:T298M	ENSP00000288439:T298M	T	-	2	0	SLC38A10	76864383	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.333000	0.96459	2.244000	0.73946	0.655000	0.94253	ACG		0.612	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		17	34	0	0	0	1	0	17	34				
KCNG2	26251	broad.mit.edu	37	18	77659303	77659303	+	Silent	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr18:77659303C>G	ENST00000316249.3	+	2	888	c.888C>G	c.(886-888)ctC>ctG	p.L296L	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	296					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.L296L(1)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TGCGCGTGCTCTACGTGATGC	0.741																																						ENST00000316249.3																			1	Substitution - coding silent(1)	p.L296L(1)	lung(1)	breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(886-888)ctC>ctG		potassium voltage-gated channel, subfamily G, member 2							9.0	11.0	11.0					18																	77659303		2024	3951	5975	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659303C>G	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.888C>G	18.37:g.77659303C>G						KCNG2_ENST00000590307.1_3'UTR	p.L296L	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	888	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	296						Silent	SNP	ENST00000316249.3	37	c.888C>G	CCDS12019.1																																																																																				0.741	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		3	9	0	0	0	1	0	3	9				
ANKRA2	57763	broad.mit.edu	37	5	72849256	72849256	+	Silent	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr5:72849256T>C	ENST00000296785.3	-	8	1519	c.861A>G	c.(859-861)ctA>ctG	p.L287L		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	287						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GGGCTACAGCTAGATCCATAG	0.363																																						ENST00000296785.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(859-861)ctA>ctG		ankyrin repeat, family A (RFXANK-like), 2							82.0	77.0	78.0					5																	72849256		2203	4300	6503	SO:0001819	synonymous_variant	57763					cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding	g.chr5:72849256T>C	AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"""Ankyrin repeat domain containing"""	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.861A>G	5.37:g.72849256T>C							p.L287L	NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)	8	1519	-		Lung NSC(167;0.0378)|Ovarian(174;0.0908)	287						Silent	SNP	ENST00000296785.3	37	c.861A>G	CCDS4020.1																																																																																				0.363	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039		18	27	0	0	0	1	0	18	27				
GZF1	64412	broad.mit.edu	37	20	23350986	23350986	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr20:23350986C>T	ENST00000338121.5	+	6	2121	c.2044C>T	c.(2044-2046)Ctc>Ttc	p.L682F	GZF1_ENST00000542987.1_Missense_Mutation_p.L191F|GZF1_ENST00000544236.1_Missense_Mutation_p.L206F|GZF1_ENST00000377051.2_Missense_Mutation_p.L682F			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	682					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CCAGGACACCCTCCTGGCCAC	0.552																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(2044-2046)Ctc>Ttc		GDNF-inducible zinc finger protein 1							78.0	74.0	76.0					20																	23350986		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23350986C>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.2044C>T	20.37:g.23350986C>T	ENSP00000338290:p.Leu682Phe					GZF1_ENST00000542987.1_Missense_Mutation_p.L191F|GZF1_ENST00000377051.2_Missense_Mutation_p.L682F|GZF1_ENST00000544236.1_Missense_Mutation_p.L206F	p.L682F			Q9H116	GZF1_HUMAN			6	2121	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		682					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.2044C>T	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287153	0.23478	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.16457	2.59;2.34;2.89;2.34	5.56	1.48	0.22813	.	0.131508	0.33199	N	0.005172	T	0.08403	0.0209	N	0.20986	0.625	0.23440	N	0.997671	B	0.30664	0.289	B	0.26517	0.07	T	0.39418	-0.9615	10	0.09338	T	0.73	.	8.6344	0.33939	0.0:0.636:0.0:0.364	.	682	Q9H116	GZF1_HUMAN	F	206;682;191;682	ENSP00000445458:L206F;ENSP00000338290:L682F;ENSP00000445118:L191F;ENSP00000366250:L682F	ENSP00000338290:L682F	L	+	1	0	GZF1	23298986	0.168000	0.22989	0.140000	0.22221	0.035000	0.12851	0.494000	0.22467	0.051000	0.15978	0.561000	0.74099	CTC		0.552	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		5	52	0	0	0	1	0	5	52				
SPECC1	92521	broad.mit.edu	37	17	20224797	20224797	+	IGR	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:20224797C>T	ENST00000395530.2	+	0	8133				U6_ENST00000517027.1_RNA|CCDC144CP_ENST00000340196.4_RNA|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGTGGAAAAACAGCGTCGGCA	0.637																																						ENST00000580225.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:20224797C>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20224797C>T						CCDC144CP_ENST00000340196.4_RNA								0	105	+								B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	SNP	ENST00000395530.2	37		CCDS42281.1																																																																																				0.637	SPECC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132368.3	NM_152904		4	104	0	0	0	1	0	4	104				
FASTKD1	79675	broad.mit.edu	37	2	170411653	170411653	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:170411653G>A	ENST00000453153.2	-	7	1541	c.1195C>T	c.(1195-1197)Ctt>Ttt	p.L399F	FASTKD1_ENST00000453929.2_Missense_Mutation_p.L399F	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	399					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AATTCTCTAAGTTTCGCAAAA	0.308																																						ENST00000453153.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						c.(1195-1197)Ctt>Ttt		FAST kinase domains 1							52.0	54.0	53.0					2																	170411653		2202	4299	6501	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170411653G>A	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1195C>T	2.37:g.170411653G>A	ENSP00000400513:p.Leu399Phe					FASTKD1_ENST00000453929.2_Missense_Mutation_p.L399F	p.L399F	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN			7	1541	-			399					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.1195C>T	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174366	0.57692	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.35605	1.32;1.3	4.84	4.84	0.62591	.	0.061993	0.64402	D	0.000003	T	0.62282	0.2415	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.67309	-0.5703	10	0.72032	D	0.01	-7.9096	15.24	0.73461	0.0:0.0:1.0:0.0	.	399;399	Q53R41-2;Q53R41	.;FAKD1_HUMAN	F	399	ENSP00000400513:L399F;ENSP00000403229:L399F	ENSP00000400513:L399F	L	-	1	0	FASTKD1	170119899	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	3.011000	0.49567	2.496000	0.84212	0.650000	0.86243	CTT		0.308	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		21	23	0	0	0	1	0	21	23				
SPTBN4	57731	broad.mit.edu	37	19	41063165	41063165	+	Silent	SNP	C	C	T	rs374234251	byFrequency	TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:41063165C>T	ENST00000352632.3	+	26	5612	c.5526C>T	c.(5524-5526)gaC>gaT	p.D1842D	SPTBN4_ENST00000338932.3_Silent_p.D1842D|SPTBN4_ENST00000392023.1_Silent_p.D518D|SPTBN4_ENST00000598249.1_Silent_p.D1842D|SPTBN4_ENST00000392025.1_Silent_p.D585D|SPTBN4_ENST00000595535.1_Silent_p.D1842D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1842					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTTCAGTGACGCCCGAGAGC	0.657													C|||	4	0.000798722	0.0008	0.0	5008	,	,		14878	0.003		0.0	False		,,,				2504	0.0					ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5524-5526)gaC>gaT		spectrin, beta, non-erythrocytic 4		C	,	0,4406		0,0,2203	26.0	30.0	29.0		5526,1554	-4.6	0.9	19		29	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous	SPTBN4	NM_020971.2,NM_025213.2	,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,	1842/2565,518/679	41063165	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41063165C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5526C>T	19.37:g.41063165C>T						SPTBN4_ENST00000598249.1_Silent_p.D1842D|SPTBN4_ENST00000595535.1_Silent_p.D1842D|SPTBN4_ENST00000392023.1_Silent_p.D518D|SPTBN4_ENST00000338932.3_Silent_p.D1842D|SPTBN4_ENST00000392025.1_Silent_p.D585D	p.D1842D			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5612	+			1842					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.5526C>T	CCDS12559.1																																																																																				0.657	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			19	26	0	0	0	1	0	19	26				
BARD1	580	broad.mit.edu	37	2	215610535	215610535	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:215610535C>T	ENST00000260947.4	-	8	1855	c.1721G>A	c.(1720-1722)gGc>gAc	p.G574D	BARD1_ENST00000449967.2_Missense_Mutation_p.G430D	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	574	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAGCCCACTGCCTATAAGTAC	0.393									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1720-1722)gGc>gAc		BRCA1 associated RING domain 1							179.0	179.0	179.0					2																	215610535		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215610535C>T		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1721G>A	2.37:g.215610535C>T	ENSP00000260947:p.Gly574Asp					BARD1_ENST00000449967.2_Missense_Mutation_p.G430D	p.G574D	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	8	1855	-		Renal(323;0.0243)	574			BRCT 1.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1721G>A	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996426	0.74818	.	.	ENSG00000138376	ENST00000260947;ENST00000449967;ENST00000421162	T;T;D	0.86562	-0.87;-0.22;-2.14	5.3	5.3	0.74995	BRCT (4);	0.137159	0.47093	D	0.000242	D	0.93294	0.7863	M	0.81942	2.565	0.46901	D	0.999247	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.975	D	0.93703	0.7017	10	0.66056	D	0.02	-15.2803	14.8692	0.70444	0.0:0.8567:0.1433:0.0	.	430;574	E7EUI3;Q99728	.;BARD1_HUMAN	D	574;430;123	ENSP00000260947:G574D;ENSP00000406752:G430D;ENSP00000392245:G123D	ENSP00000260947:G574D	G	-	2	0	BARD1	215318780	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.492000	0.53259	2.624000	0.88883	0.561000	0.74099	GGC		0.393	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		21	151	0	0	0	1	0	21	151				
TFAP2D	83741	broad.mit.edu	37	6	50683278	50683278	+	Silent	SNP	G	G	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:50683278G>T	ENST00000008391.3	+	2	717	c.489G>T	c.(487-489)ctG>ctT	p.L163L		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AAAGACTCCTGCCAGGGCCCA	0.632																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(487-489)ctG>ctT		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							46.0	55.0	52.0					6																	50683278		2199	4283	6482	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683278G>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.489G>T	6.37:g.50683278G>T							p.L163L	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			2	717	+	Lung NSC(77;0.0334)		163						Silent	SNP	ENST00000008391.3	37	c.489G>T	CCDS4933.1																																																																																				0.632	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		33	61	1	0	3.09479e-21	1	3.24699e-21	33	61				
MYO5C	55930	broad.mit.edu	37	15	52553129	52553129	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:52553129C>T	ENST00000261839.7	-	10	1404	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	MYO5C_ENST00000541028.1_5'Flank|MYO5C_ENST00000443683.2_Missense_Mutation_p.E358K	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	415	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTAATTCTCTCCACAATGAAG	0.473																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1243-1245)Gag>Aag		myosin VC							128.0	124.0	125.0					15																	52553129		1952	4142	6094	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52553129C>T	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1243G>A	15.37:g.52553129C>T	ENSP00000261839:p.Glu415Lys					MYO5C_ENST00000443683.2_Missense_Mutation_p.E358K	p.E415K	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	10	1404	-			415			Myosin head-like.		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.1243G>A	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725655	0.48833	.	.	ENSG00000128833	ENST00000261839;ENST00000443683	D;D	0.87491	-2.26;-2.26	5.78	5.78	0.91487	Myosin head, motor domain (2);	0.328975	0.36519	N	0.002552	D	0.83188	0.5200	L	0.33093	0.98	0.36193	D	0.850191	B	0.15141	0.012	B	0.15870	0.014	T	0.79706	-0.1691	10	0.39692	T	0.17	.	20.0051	0.97433	0.0:1.0:0.0:0.0	.	415	Q9NQX4	MYO5C_HUMAN	K	415;358	ENSP00000261839:E415K;ENSP00000410582:E358K	ENSP00000261839:E415K	E	-	1	0	MYO5C	50340421	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.966000	0.40481	2.739000	0.93911	0.561000	0.74099	GAG		0.473	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		44	62	0	0	0	1	0	44	62				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393			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		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		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.chr2:209113112C>T		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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	49	0	0	0	1	0	21	49				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	65	0	0	0	1	0	3	65				
TRO	7216	broad.mit.edu	37	X	54955789	54955789	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:54955789G>A	ENST00000173898.7	+	12	2744	c.2632G>A	c.(2632-2634)Gtc>Atc	p.V878I	TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.V409I|TRO_ENST00000375041.2_Missense_Mutation_p.V481I|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375022.4_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	878	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AACGAGCACAGTCTTCAGTAG	0.567																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(2632-2634)Gtc>Atc		trophinin							59.0	54.0	56.0					X																	54955789		2121	4216	6337	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955789G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2632G>A	X.37:g.54955789G>A	ENSP00000173898:p.Val878Ile					TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.V409I|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.V481I|TRO_ENST00000319167.8_Intron	p.V878I	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	2744	+			878			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.2632G>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	1.728	-0.494981	0.04322	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.11277	2.79;2.79;2.79	2.83	1.02	0.19986	.	.	.	.	.	T	0.07098	0.0180	L	0.29908	0.895	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.12156	0.005;0.007	T	0.37454	-0.9705	9	0.52906	T	0.07	.	2.3483	0.04277	0.2947:0.0:0.4645:0.2408	.	481;878	B1AKE9;Q12816	.;TROP_HUMAN	I	878;409;481	ENSP00000173898:V878I;ENSP00000405126:V409I;ENSP00000364181:V481I	ENSP00000173898:V878I	V	+	1	0	TRO	54972514	0.001000	0.12720	0.017000	0.16124	0.006000	0.05464	0.454000	0.21827	0.141000	0.18875	-0.260000	0.10688	GTC		0.567	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		24	36	0	0	0	1	0	24	36				
TUBA3C	7278	broad.mit.edu	37	13	19751659	19751659	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr13:19751659T>C	ENST00000400113.3	-	4	568	c.464A>G	c.(463-465)gAg>gGg	p.E155G		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	155					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGAGAGCCGCTCCATGAGCAG	0.587																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(463-465)gAg>gGg		tubulin, alpha 3c							83.0	86.0	85.0					13																	19751659		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751659T>C	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.464A>G	13.37:g.19751659T>C	ENSP00000382982:p.Glu155Gly						p.E155G	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	568	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	155					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.464A>G	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	t	8.756	0.922472	0.17982	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.72505	-0.66	1.19	1.19	0.21007	.	0.000000	0.47455	U	0.000229	T	0.72700	0.3493	.	.	.	0.42091	D	0.991293	.	.	.	.	.	.	T	0.72653	-0.4228	7	0.87932	D	0	.	6.5194	0.22266	0.0:0.0:0.0:1.0	.	.	.	.	G	155	ENSP00000382982:E155G	ENSP00000354037:E155G	E	-	2	0	TUBA3C	18649659	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	4.841000	0.62824	0.801000	0.34066	0.136000	0.15936	GAG		0.587	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		35	53	0	0	0	1	0	35	53				
APOL4	80832	broad.mit.edu	37	22	36587386	36587386	+	Nonsense_Mutation	SNP	G	G	A	rs200035805		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr22:36587386G>A	ENST00000352371.1	-	6	1014	c.790C>T	c.(790-792)Cga>Tga	p.R264*	APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000332987.1_Nonsense_Mutation_p.R261*|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	265					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						GGTACATATCGCCAAGCAATC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		23305	0.001		0.0	False		,,,				2504	0.0					ENST00000332987.1																			0				lung(1)	1						c.(781-783)Cga>Tga		apolipoprotein L, 4			stop/ARG,stop/ARG	3,4011		0,3,2004	78.0	72.0	74.0		782,791	-3.9	0.0	22		74	0,8372		0,0,4186	yes	stop-gained,stop-gained	APOL4	NM_030643.3,NM_145660.1	,	0,3,6190	AA,AG,GG		0.0,0.0747,0.0242	,	262/349,265/352	36587386	3,12383	2007	4186	6193	SO:0001587	stop_gained	80832				lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	g.chr22:36587386G>A	AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"""Apolipoproteins"""	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000352371.1:c.790C>T	22.37:g.36587386G>A	ENSP00000338260:p.Arg264*					APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000352371.1_Nonsense_Mutation_p.R264*|APOL4_ENST00000405511.1_3'UTR	p.R261*			Q9BPW4	APOL4_HUMAN			7	1203	-			265					Q9BQ37|Q9BXQ8	Nonsense_Mutation	SNP	ENST00000352371.1	37	c.781C>T		.	.	.	.	.	.	.	.	.	.	g	19.38	3.815728	0.70912	7.47E-4	0.0	ENSG00000100336	ENST00000352371;ENST00000332987	.	.	.	2.19	-3.88	0.04205	.	1.283320	0.05642	U	0.583593	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.5209	0.02515	0.171:0.1331:0.4343:0.2615	.	.	.	.	X	264;261	.	ENSP00000333229:R261X	R	-	1	2	APOL4	34917332	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.505000	0.02273	-1.086000	0.03084	-0.518000	0.04402	CGA		0.483	APOL4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145660		20	37	0	0	0	1	0	20	37				
EEF1D	1936	broad.mit.edu	37	8	144663399	144663399	+	Splice_Site	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr8:144663399C>T	ENST00000529272.1	-	4	689	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	EEF1D_ENST00000419152.2_Splice_Site_p.V97M|EEF1D_ENST00000442189.2_Splice_Site_p.V463M|NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000528610.1_Splice_Site_p.V73M|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532741.1_Splice_Site_p.V513M|EEF1D_ENST00000317198.6_Splice_Site_p.V97M|EEF1D_ENST00000524624.1_Splice_Site_p.V73M|EEF1D_ENST00000423316.2_Splice_Site_p.V463M|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000395119.3_Splice_Site_p.V97M|NAPRT1_ENST00000426292.3_5'Flank|NAPRT1_ENST00000276844.7_5'Flank			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	97	Leucine-zipper.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGCCTCACCGCCACGCAGA	0.692																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e4+1		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							28.0	26.0	27.0					8																	144663399		2202	4297	6499	SO:0001630	splice_region_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144663399C>T	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.289+1G>A	8.37:g.144663399C>T						EEF1D_ENST00000423316.2_Splice_Site_p.V463_splice|EEF1D_ENST00000528610.1_Splice_Site_p.V73_splice|EEF1D_ENST00000419152.2_Splice_Site_p.V97_splice|EEF1D_ENST00000442189.2_Splice_Site_p.V463_splice|EEF1D_ENST00000395119.3_Splice_Site_p.V97_splice|EEF1D_ENST00000529272.1_Splice_Site_p.V97_splice|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000317198.6_Splice_Site_p.V97_splice|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000524624.1_Splice_Site_p.V73_splice|EEF1D_ENST00000526838.1_Intron	p.V513_splice			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		4	1765	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		97					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Splice_Site	SNP	ENST00000529272.1	37	c.1537_splice	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848167	0.91277	.	.	ENSG00000104529	ENST00000419152;ENST00000532741;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000533749	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.77857	0.4193	M	0.74258	2.255	0.80722	D	1	P;D;B;D;D	0.76494	0.895;0.999;0.016;0.998;0.982	B;D;B;D;P	0.69142	0.295;0.962;0.01;0.917;0.571	T	0.79293	-0.1863	9	0.46703	T	0.11	.	16.8522	0.85996	0.0:1.0:0.0:0.0	.	463;391;97;513;463	D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;EF1D_HUMAN;.;.	M	97;513;463;73;97;97;463;391;97;463;73;97;73;97;97;97;97;97;113	.	ENSP00000317399:V97M	V	-	1	0	EEF1D	144734542	1.000000	0.71417	0.998000	0.56505	0.640000	0.38277	5.191000	0.65110	2.296000	0.77279	0.542000	0.68232	GTG		0.692	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378	Missense_Mutation	5	23	0	0	0	1	0	5	23				
GPR64	10149	broad.mit.edu	37	X	19027859	19027859	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:19027859A>T	ENST00000379869.3	-	18	1470	c.1307T>A	c.(1306-1308)tTt>tAt	p.F436Y	GPR64_ENST00000379873.2_Missense_Mutation_p.F436Y|GPR64_ENST00000354791.3_Missense_Mutation_p.F420Y|GPR64_ENST00000357991.3_Missense_Mutation_p.F433Y|GPR64_ENST00000379876.1_Missense_Mutation_p.F412Y|GPR64_ENST00000360279.4_Missense_Mutation_p.F414Y|GPR64_ENST00000379878.3_Missense_Mutation_p.F420Y|GPR64_ENST00000357544.3_Missense_Mutation_p.F406Y|GPR64_ENST00000356606.4_Missense_Mutation_p.F422Y|GPR64_ENST00000340581.3_Missense_Mutation_p.F406Y	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	436					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CGTGTTTGAAAAGTTCAGCTG	0.398																																						ENST00000354791.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(1258-1260)tTt>tAt		G protein-coupled receptor 64							131.0	111.0	118.0					X																	19027859		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19027859A>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1307T>A	X.37:g.19027859A>T	ENSP00000369198:p.Phe436Tyr					GPR64_ENST00000379873.2_Missense_Mutation_p.F436Y|GPR64_ENST00000379876.1_Missense_Mutation_p.F412Y|GPR64_ENST00000340581.3_Missense_Mutation_p.F406Y|GPR64_ENST00000379878.3_Missense_Mutation_p.F420Y|GPR64_ENST00000379869.3_Missense_Mutation_p.F436Y|GPR64_ENST00000360279.4_Missense_Mutation_p.F414Y|GPR64_ENST00000356606.4_Missense_Mutation_p.F422Y|GPR64_ENST00000357991.3_Missense_Mutation_p.F433Y|GPR64_ENST00000357544.3_Missense_Mutation_p.F406Y	p.F420Y			Q8IZP9	GPR64_HUMAN			17	1500	-	Hepatocellular(33;0.183)		436					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.1259T>A	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.841375	0.91197	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.39592	1.24;1.35;1.35;1.36;1.36;1.38;1.36;1.38;1.39;1.07	6.17	6.17	0.99709	.	0.103827	0.43579	D	0.000543	T	0.63438	0.2511	M	0.72894	2.215	0.39006	D	0.959451	D;D;D;D;D;D;D;D;D;D;D	0.69078	0.986;0.988;0.995;0.997;0.997;0.997;0.997;0.997;0.997;0.994;0.996	P;P;D;D;D;D;D;D;D;D;P	0.69479	0.651;0.877;0.942;0.964;0.964;0.958;0.958;0.958;0.958;0.922;0.908	T	0.67023	-0.5775	10	0.49607	T	0.09	.	15.6831	0.77388	1.0:0.0:0.0:0.0	.	406;398;406;412;420;436;414;422;433;436;420	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	Y	436;420;420;412;406;436;414;433;422;406	ENSP00000369202:F436Y;ENSP00000369207:F420Y;ENSP00000346845:F420Y;ENSP00000369205:F412Y;ENSP00000350152:F406Y;ENSP00000369198:F436Y;ENSP00000353421:F414Y;ENSP00000350680:F433Y;ENSP00000349015:F422Y;ENSP00000344972:F406Y	ENSP00000344972:F406Y	F	-	2	0	GPR64	18937780	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.010000	0.88615	2.088000	0.63022	0.486000	0.48141	TTT		0.398	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			46	50	0	0	0	1	0	46	50				
MKI67	4288	broad.mit.edu	37	10	129906452	129906452	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr10:129906452C>T	ENST00000368654.3	-	13	4027	c.3652G>A	c.(3652-3654)Gcc>Acc	p.A1218T	MKI67_ENST00000368653.3_Missense_Mutation_p.A858T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1218	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGCCTGGGCCTTTTCCTTA	0.483																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3652-3654)Gcc>Acc		marker of proliferation Ki-67							125.0	123.0	124.0					10																	129906452		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906452C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3652G>A	10.37:g.129906452C>T	ENSP00000357643:p.Ala1218Thr					MKI67_ENST00000368653.3_Missense_Mutation_p.A858T	p.A1218T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4027	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1218			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3652G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662651	0.47572	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03242	4.0;4.0	3.89	-3.74	0.04385	.	1.404700	0.05146	N	0.495153	T	0.04724	0.0128	M	0.68593	2.085	0.09310	N	1	B;P;P	0.40230	0.05;0.708;0.659	B;B;B	0.42319	0.013;0.383;0.284	T	0.34428	-0.9829	10	0.15066	T	0.55	.	0.6725	0.00861	0.349:0.2432:0.1057:0.302	.	1217;858;1218	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	1218;858;1217	ENSP00000357643:A1218T;ENSP00000357642:A858T	ENSP00000357642:A858T	A	-	1	0	MKI67	129796442	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.796000	0.04575	-1.211000	0.02624	-0.521000	0.04368	GCC		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		19	80	0	0	0	1	0	19	80				
FGD6	55785	broad.mit.edu	37	12	95531311	95531311	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:95531311A>G	ENST00000343958.4	-	7	3204	c.2981T>C	c.(2980-2982)gTt>gCt	p.V994A	FGD6_ENST00000546711.1_Missense_Mutation_p.V994A|FGD6_ENST00000549499.1_Missense_Mutation_p.V994A	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	994	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AAATTCTCTAACAACAGCAGC	0.328																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2980-2982)gTt>gCt		FYVE, RhoGEF and PH domain containing 6							123.0	115.0	118.0					12																	95531311		2203	4299	6502	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95531311A>G	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2981T>C	12.37:g.95531311A>G	ENSP00000344446:p.Val994Ala					FGD6_ENST00000549499.1_Missense_Mutation_p.V994A|FGD6_ENST00000546711.1_Missense_Mutation_p.V994A	p.V994A	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			7	3204	-			994			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2981T>C	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.738011	0.69304	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.64438	-0.1;-0.1;-0.1	4.98	4.98	0.66077	Dbl homology (DH) domain (5);	0.000000	0.42420	D	0.000706	T	0.79787	0.4506	M	0.82132	2.575	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.99;0.998	T	0.83027	-0.0164	10	0.72032	D	0.01	-17.7281	14.9642	0.71179	1.0:0.0:0.0:0.0	.	994;994	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	A	994	ENSP00000344446:V994A;ENSP00000450342:V994A;ENSP00000449005:V994A	ENSP00000344446:V994A	V	-	2	0	FGD6	94055442	1.000000	0.71417	0.996000	0.52242	0.664000	0.39144	8.787000	0.91830	2.004000	0.58718	0.459000	0.35465	GTT		0.328	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		45	67	0	0	0	1	0	45	67				
ANXA2	302	broad.mit.edu	37	15	60653219	60653219	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:60653219C>T	ENST00000396024.3	-	6	437	c.278G>A	c.(277-279)gGc>gAc	p.G93D	ANXA2_ENST00000421017.2_Missense_Mutation_p.G93D|ANXA2_ENST00000557937.1_5'Flank|ANXA2_ENST00000451270.2_Missense_Mutation_p.G93D|ANXA2_ENST00000332680.4_Missense_Mutation_p.G111D	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	93					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	CTCCAGGTGGCCAGATAAGGC	0.398																																						ENST00000396024.3																			0				kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.(277-279)gGc>gAc		annexin A2	Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)						67.0	64.0	65.0					15																	60653219		2203	4300	6503	SO:0001583	missense	302				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	g.chr15:60653219C>T	D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"""Annexins"""	537	protein-coding gene	gene with protein product	"""annexin II"""	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.278G>A	15.37:g.60653219C>T	ENSP00000379342:p.Gly93Asp					ANXA2_ENST00000451270.2_Missense_Mutation_p.G93D|ANXA2_ENST00000421017.2_Missense_Mutation_p.G93D|ANXA2_ENST00000332680.4_Missense_Mutation_p.G111D	p.G93D	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN			6	437	-			93					Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	ENST00000396024.3	37	c.278G>A	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818323	0.90790	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.4	5.4	0.78164	Annexin repeat, conserved site (1);	0.000000	0.85682	U	0.000000	T	0.56016	0.1957	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.998	D;P;D	0.79784	0.993;0.752;0.958	T	0.64778	-0.6327	10	0.87932	D	0	.	18.3073	0.90187	0.0:1.0:0.0:0.0	.	93;111;93	B4DNH8;P07355-2;P07355	.;.;ANXA2_HUMAN	D	93;111;93;93	ENSP00000379342:G93D;ENSP00000346032:G111D;ENSP00000411352:G93D;ENSP00000387545:G93D	ENSP00000346032:G111D	G	-	2	0	ANXA2	58440511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.095000	0.76952	2.701000	0.92244	0.561000	0.74099	GGC		0.398	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857		3	39	0	0	0	1	0	3	39				
CREB3L3	84699	broad.mit.edu	37	19	4171094	4171094	+	Silent	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:4171094C>G	ENST00000078445.2	+	8	1044	c.897C>G	c.(895-897)ctC>ctG	p.L299L	CREB3L3_ENST00000602257.1_Silent_p.L297L|CREB3L3_ENST00000602147.1_Missense_Mutation_p.L264V|CREB3L3_ENST00000595923.1_Silent_p.L298L|CREB3L3_ENST00000252587.3_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	299	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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 positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAGGTCCCTCTTGGAGCAAC	0.612																																						ENST00000602147.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(790-792)Ctt>Gtt		cAMP responsive element binding protein 3-like 3							81.0	76.0	77.0					19																	4171094		2203	4300	6503	SO:0001819	synonymous_variant	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4171094C>G		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.897C>G	19.37:g.4171094C>G						CREB3L3_ENST00000595923.1_Silent_p.L298L|CREB3L3_ENST00000078445.2_Silent_p.L299L|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Silent_p.L297L	p.L264V			Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	7	870	+			387					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.790C>G	CCDS12121.1																																																																																				0.612	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		20	32	0	0	0	1	0	20	32				
ZNF638	27332	broad.mit.edu	37	2	71658529	71658529	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:71658529G>A	ENST00000409544.1	+	26	6353	c.5723G>A	c.(5722-5724)gGc>gAc	p.G1908D	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.G1908D|ZNF638_ENST00000409407.1_Missense_Mutation_p.G848D	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1908					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTTCTTCAGGCAAATCAGTG	0.413																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(5722-5724)gGc>gAc		zinc finger protein 638							52.0	51.0	51.0					2																	71658529		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71658529G>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5723G>A	2.37:g.71658529G>A	ENSP00000386433:p.Gly1908Asp					ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.G848D|ZNF638_ENST00000264447.4_Missense_Mutation_p.G1908D	p.G1908D	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			26	6353	+			1908					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5723G>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386335	0.42308	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.31769	1.48;1.48;1.86	5.29	3.48	0.39840	.	1.174500	0.06238	N	0.689846	T	0.23926	0.0579	L	0.32530	0.975	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.003	T	0.06516	-1.0822	10	0.12766	T	0.61	0.3295	8.5246	0.33298	0.1813:0.0:0.8187:0.0	.	1908;1908	Q14966-3;Q14966	.;ZN638_HUMAN	D	1908;1908;848	ENSP00000264447:G1908D;ENSP00000386433:G1908D;ENSP00000386813:G848D	ENSP00000264447:G1908D	G	+	2	0	ZNF638	71512037	0.931000	0.31567	0.349000	0.25694	0.930000	0.56654	1.124000	0.31320	0.729000	0.32403	0.478000	0.44815	GGC		0.413	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		4	33	0	0	0	1	0	4	33				
NCKAP5	344148	broad.mit.edu	37	2	133489408	133489408	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:133489408G>C	ENST00000409261.1	-	17	5718	c.5345C>G	c.(5344-5346)cCt>cGt	p.P1782R	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P463R|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1782R|NCKAP5_ENST00000405974.3_Missense_Mutation_p.P463R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1782										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTATCTGCAGGGCGCTGGCC	0.587																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(5344-5346)cCt>cGt		NCK-associated protein 5							87.0	91.0	90.0					2																	133489408		2053	4194	6247	SO:0001583	missense	344148						protein binding	g.chr2:133489408G>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5345C>G	2.37:g.133489408G>C	ENSP00000387128:p.Pro1782Arg					NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1782R|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P463R|NCKAP5_ENST00000405974.3_Missense_Mutation_p.P463R	p.P1782R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			17	5718	-			1782					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.5345C>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840462	0.32513	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.49432	2.84;0.78;2.84;0.78	5.2	4.26	0.50523	.	0.256644	0.19621	U	0.109917	T	0.27241	0.0668	N	0.08118	0	0.09310	N	1	B;B	0.31174	0.091;0.311	B;B	0.27076	0.048;0.076	T	0.21177	-1.0253	10	0.66056	D	0.02	.	10.9973	0.47585	0.093:0.0:0.907:0.0	.	463;1782	O14513-2;O14513	.;NCKP5_HUMAN	R	1782;463;1782;463;463	ENSP00000387128:P1782R;ENSP00000386952:P463R;ENSP00000380603:P1782R;ENSP00000385692:P463R	ENSP00000380603:P1782R	P	-	2	0	NCKAP5	133205878	0.766000	0.28496	0.002000	0.10522	0.419000	0.31324	4.400000	0.59709	1.301000	0.44836	0.655000	0.94253	CCT		0.587	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		31	49	0	0	0	1	0	31	49				
ZNF385B	151126	broad.mit.edu	37	2	180634316	180634316	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:180634316T>A	ENST00000410066.1	-	3	770	c.167A>T	c.(166-168)aAa>aTa	p.K56I		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	56	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCGGTGGGATTTGCCGTTGGA	0.567																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(166-168)aAa>aTa		zinc finger protein 385B							91.0	81.0	85.0					2																	180634316		2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180634316T>A	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.167A>T	2.37:g.180634316T>A	ENSP00000386845:p.Lys56Ile						p.K56I	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		3	770	-			56					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.167A>T	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195182	0.78902	.	.	ENSG00000144331	ENST00000410066;ENST00000451732	T;T	0.47869	0.83;0.83	5.92	3.56	0.40772	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.131577	0.50627	D	0.000107	T	0.62962	0.2471	M	0.76574	2.34	0.80722	D	1	D	0.58970	0.984	P	0.62885	0.908	T	0.63585	-0.6604	10	0.87932	D	0	-18.5541	9.5425	0.39260	0.0:0.1414:0.0:0.8586	.	56	Q569K4	Z385B_HUMAN	I	56	ENSP00000386845:K56I;ENSP00000409978:K56I	ENSP00000386845:K56I	K	-	2	0	ZNF385B	180342561	1.000000	0.71417	0.994000	0.49952	0.895000	0.52256	3.080000	0.50112	0.505000	0.28104	0.459000	0.35465	AAA		0.567	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		14	29	0	0	0	1	0	14	29				
WDR66	144406	broad.mit.edu	37	12	122399967	122399967	+	Silent	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:122399967C>T	ENST00000288912.4	+	15	3245	c.2391C>T	c.(2389-2391)acC>acT	p.T797T	WDR66_ENST00000545752.1_3'UTR|WDR66_ENST00000397454.2_Silent_p.T797T	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	797							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GCTATCCCACCTGCATGGTCT	0.498																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2389-2391)acC>acT		WD repeat domain 66							106.0	108.0	107.0					12																	122399967		1984	4163	6147	SO:0001819	synonymous_variant	144406						calcium ion binding	g.chr12:122399967C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2391C>T	12.37:g.122399967C>T						WDR66_ENST00000397454.2_Silent_p.T797T|WDR66_ENST00000545752.1_3'UTR	p.T797T	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	15	3245	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		797					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.2391C>T	CCDS41853.1																																																																																				0.498	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		18	93	0	0	0	1	0	18	93				
MUC17	140453	broad.mit.edu	37	7	100679845	100679845	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr7:100679845C>A	ENST00000306151.4	+	3	5212	c.5148C>A	c.(5146-5148)gaC>gaA	p.D1716E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1716	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCCGTTGACAACAGCACAC	0.473																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5146-5148)gaC>gaA		mucin 17, cell surface associated							220.0	229.0	226.0					7																	100679845		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679845C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5148C>A	7.37:g.100679845C>A	ENSP00000302716:p.Asp1716Glu						p.D1716E	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5212	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1716			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5148C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.483	-0.556797	0.03967	.	.	ENSG00000169876	ENST00000306151	T	0.01918	4.56	1.19	-2.38	0.06622	.	.	.	.	.	T	0.00906	0.0030	N	0.14661	0.345	0.09310	N	1	P	0.38110	0.618	B	0.28638	0.092	T	0.42189	-0.9466	9	0.02654	T	1	.	3.8949	0.09135	0.0:0.3085:0.4961:0.1954	.	1716	Q685J3	MUC17_HUMAN	E	1716	ENSP00000302716:D1716E	ENSP00000302716:D1716E	D	+	3	2	MUC17	100466565	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.194000	0.00563	-0.912000	0.03837	-1.285000	0.01374	GAC		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		89	117	1	0	3.65056e-27	1	3.89393e-27	89	117				
ARAP1	116985	broad.mit.edu	37	11	72396719	72396719	+	Missense_Mutation	SNP	C	C	G	rs199584464		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr11:72396719C>G	ENST00000393609.3	-	35	4545	c.4343G>C	c.(4342-4344)cGc>cCc	p.R1448P	ARAP1_ENST00000426523.1_Missense_Mutation_p.R1192P|ARAP1_ENST00000334211.8_Missense_Mutation_p.R1203P|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1437P|ARAP1_ENST00000429686.1_Missense_Mutation_p.R1131P|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1208P|ARAP1_ENST00000359373.5_Missense_Mutation_p.R1437P|ARAP1-AS1_ENST00000542022.1_RNA	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1448					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCAGACGTTGCGCAGAAGCTG	0.607																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(4309-4311)cGc>cCc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							72.0	71.0	71.0					11																	72396719		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72396719C>G	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.4343G>C	11.37:g.72396719C>G	ENSP00000377233:p.Arg1448Pro					ARAP1_ENST00000334211.8_Missense_Mutation_p.R1203P|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1208P|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1437P|ARAP1_ENST00000429686.1_Missense_Mutation_p.R1131P|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1448P|ARAP1_ENST00000426523.1_Missense_Mutation_p.R1192P	p.R1437P			Q96P48	ARAP1_HUMAN			34	5161	-			1448					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.4310G>C	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	c	14.70	2.614366	0.46631	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686	T;T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.21;3.16;3.21;3.16	3.68	3.68	0.42216	.	0.575754	0.14907	N	0.291471	T	0.11836	0.0288	N	0.08118	0	0.35102	D	0.765305	D;D;D;D;D	0.71674	0.967;0.998;0.981;0.987;0.992	P;D;P;P;P	0.70716	0.579;0.97;0.826;0.754;0.823	T	0.34750	-0.9816	10	0.87932	D	0	.	11.2388	0.48958	0.0:1.0:0.0:0.0	.	1192;1131;1437;1448;1208	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	P	1437;1437;1208;1203;1448;1192;1131	ENSP00000352332:R1437P;ENSP00000390461:R1437P;ENSP00000377230:R1208P;ENSP00000335506:R1203P;ENSP00000377233:R1448P;ENSP00000392264:R1192P;ENSP00000403127:R1131P	ENSP00000335506:R1203P	R	-	2	0	ARAP1	72074367	0.345000	0.24835	0.985000	0.45067	0.109000	0.19521	0.795000	0.26972	2.368000	0.80403	0.450000	0.29827	CGC		0.607	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		11	24	0	0	0	1	0	11	24				
TAS2R16	50833	broad.mit.edu	37	7	122634819	122634819	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr7:122634819C>G	ENST00000249284.2	-	1	935	c.870G>C	c.(868-870)aaG>aaC	p.K290N		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	290					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGCCTAGCACTTTCCCTTTA	0.418																																						ENST00000249284.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(868-870)aaG>aaC		taste receptor, type 2, member 16							104.0	108.0	107.0					7																	122634819		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122634819C>G	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.870G>C	7.37:g.122634819C>G	ENSP00000249284:p.Lys290Asn						p.K290N	NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN			1	935	-			290					A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.870G>C	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396936	0.25205	.	.	ENSG00000128519	ENST00000249284	T	0.00892	5.57	4.1	-1.03	0.10102	.	0.913063	0.09142	N	0.842831	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	P	0.50943	0.94	B	0.39840	0.311	T	0.52525	-0.8564	10	0.72032	D	0.01	.	5.4066	0.16324	0.0:0.4721:0.1449:0.3829	.	290	Q9NYV7	T2R16_HUMAN	N	290	ENSP00000249284:K290N	ENSP00000249284:K290N	K	-	3	2	TAS2R16	122422055	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.141000	0.03207	-0.343000	0.08351	-1.094000	0.02160	AAG		0.418	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		4	189	0	0	0	1	0	4	189				
POLA1	5422	broad.mit.edu	37	X	24735546	24735546	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:24735546G>C	ENST00000379059.3	+	9	843	c.828G>C	c.(826-828)gaG>gaC	p.E276D	POLA1_ENST00000379068.3_Missense_Mutation_p.E282D	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	276					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GGGACAAAGAGAGTGAGCCAG	0.498																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(844-846)gaG>gaC		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						107.0	99.0	102.0					X																	24735546		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24735546G>C		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.828G>C	X.37:g.24735546G>C	ENSP00000368349:p.Glu276Asp					POLA1_ENST00000379059.3_Missense_Mutation_p.E276D	p.E282D			P09884	DPOLA_HUMAN			9	889	+			276					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.846G>C	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	9.180	1.023402	0.19433	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.18338	2.23;2.22	4.47	4.47	0.54385	.	1.594020	0.03352	N	0.196340	T	0.22003	0.0530	L	0.60455	1.87	0.36579	D	0.873432	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.34527	-0.9825	10	0.15952	T	0.53	-2.4898	11.5918	0.50949	0.0:0.1922:0.8078:0.0	.	282;276	A6NMQ1;P09884	.;DPOLA_HUMAN	D	282;276	ENSP00000368358:E282D;ENSP00000368349:E276D	ENSP00000368349:E276D	E	+	3	2	POLA1	24645467	0.877000	0.30153	0.895000	0.35142	0.730000	0.41778	0.954000	0.29175	2.072000	0.62099	0.292000	0.19580	GAG		0.498	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		16	24	0	0	0	1	0	16	24				
THSD7B	80731	broad.mit.edu	37	2	138400162	138400162	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:138400162T>C	ENST00000409968.1	+	21	4082	c.3904T>C	c.(3904-3906)Tac>Cac	p.Y1302H	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.Y1305H|THSD7B_ENST00000413152.2_Missense_Mutation_p.Y1274H			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1304	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACCCCCTGCTACAGCTGGGT	0.488																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3904-3906)Tac>Cac		thrombospondin, type I, domain containing 7B							76.0	80.0	78.0					2																	138400162		1888	4106	5994	SO:0001583	missense	80731							g.chr2:138400162T>C			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3904T>C	2.37:g.138400162T>C	ENSP00000387145:p.Tyr1302His					THSD7B_ENST00000413152.2_Missense_Mutation_p.Y1274H|THSD7B_ENST00000272643.3_Missense_Mutation_p.Y1305H|THSD7B_ENST00000543459.1_Intron	p.Y1302H						BRCA - Breast invasive adenocarcinoma(221;0.19)	21	4082	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3904T>C		.	.	.	.	.	.	.	.	.	.	T	15.77	2.930679	0.52866	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60920	0.15;0.15;0.15	5.33	5.33	0.75918	.	0.119337	0.64402	D	0.000014	T	0.66346	0.2780	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.60652	-0.7221	10	0.16896	T	0.51	.	14.413	0.67128	0.0:0.0:0.0:1.0	.	1274	C9JKN6	.	H	1302;1305;1274	ENSP00000387145:Y1302H;ENSP00000272643:Y1305H;ENSP00000413841:Y1274H	ENSP00000272643:Y1305H	Y	+	1	0	THSD7B	138116632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.849000	0.62882	2.234000	0.73211	0.533000	0.62120	TAC		0.488	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		28	74	0	0	0	1	0	28	74				
RYR2	6262	broad.mit.edu	37	1	237872331	237872331	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:237872331T>C	ENST00000366574.2	+	69	10392	c.10075T>C	c.(10075-10077)Ttc>Ctc	p.F3359L	RYR2_ENST00000542537.1_Missense_Mutation_p.F3343L|RYR2_ENST00000360064.6_Missense_Mutation_p.F3357L|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3359					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTAGATGAGTTCACCACACT	0.463																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(10075-10077)Ttc>Ctc		ryanodine receptor 2 (cardiac)							93.0	91.0	91.0					1																	237872331		1933	4133	6066	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237872331T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10075T>C	1.37:g.237872331T>C	ENSP00000355533:p.Phe3359Leu					RYR2_ENST00000542537.1_Missense_Mutation_p.F3343L|RYR2_ENST00000360064.6_Missense_Mutation_p.F3357L	p.F3359L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		69	10392	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3359					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10075T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667686	0.88348	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97041	-4.22;-4.19;-4.21	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	D	0.95430	0.8516	L	0.42581	1.335	0.80722	D	1	P	0.43519	0.809	B	0.42692	0.395	D	0.95793	0.8826	10	0.66056	D	0.02	-15.3475	15.6247	0.76845	0.0:0.0:0.0:1.0	.	3359	Q92736	RYR2_HUMAN	L	3359;3357;3343;314	ENSP00000355533:F3359L;ENSP00000353174:F3357L;ENSP00000443798:F3343L	ENSP00000353174:F3357L	F	+	1	0	RYR2	235938954	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	7.997000	0.88414	2.093000	0.63338	0.533000	0.62120	TTC		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	10	0	0	0	1	0	8	10				
DCAKD	79877	broad.mit.edu	37	17	43101983	43101983	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:43101983C>T	ENST00000452796.2	-	4	769	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	DCAKD_ENST00000342350.5_Missense_Mutation_p.A172T|DCAKD_ENST00000588499.1_Missense_Mutation_p.A172T			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	172	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				ACATGGCGGGCCATGCGGGCC	0.642																																						ENST00000452796.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6						c.(514-516)Gcc>Acc		dephospho-CoA kinase domain containing							68.0	62.0	64.0					17																	43101983		2203	4300	6503	SO:0001583	missense	79877				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity	g.chr17:43101983C>T	BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.514G>A	17.37:g.43101983C>T	ENSP00000413483:p.Ala172Thr					DCAKD_ENST00000588499.1_Missense_Mutation_p.A172T|DCAKD_ENST00000342350.5_Missense_Mutation_p.A172T	p.A172T			Q8WVC6	DCAKD_HUMAN			4	769	-		Prostate(33;0.155)	172			DPCK.		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	ENST00000452796.2	37	c.514G>A	CCDS11493.1	.	.	.	.	.	.	.	.	.	.	C	36	5.616511	0.96649	.	.	ENSG00000172992	ENST00000342350;ENST00000452796	T;T	0.61040	0.14;0.14	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92135	0.5715	10	0.87932	D	0	-9.5966	18.1924	0.89810	0.0:1.0:0.0:0.0	.	172	Q8WVC6	DCAKD_HUMAN	T	172	ENSP00000341504:A172T;ENSP00000413483:A172T	ENSP00000341504:A172T	A	-	1	0	DCAKD	40457509	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.577000	0.82486	2.520000	0.84964	0.542000	0.68232	GCC		0.642	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449066.1	NM_024819		17	32	0	0	0	1	0	17	32				
TBX5	6910	broad.mit.edu	37	12	114793418	114793418	+	Silent	SNP	G	G	A	rs369034176		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:114793418G>A	ENST00000310346.4	-	9	2142	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	TBX5_ENST00000405440.2_Silent_p.G492G|TBX5_ENST00000349716.5_Silent_p.G442G	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	492					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCCTTGGCACGCCATGAGAGT	0.602																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1474-1476)ggC>ggT		T-box 5		G	,,	0,4406		0,0,2203	57.0	55.0	55.0		1476,1326,1476	-1.5	0.9	12		55	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	TBX5	NM_000192.3,NM_080717.2,NM_181486.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	492/519,442/469,492/519	114793418	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793418G>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1476C>T	12.37:g.114793418G>A						TBX5_ENST00000405440.2_Silent_p.G492G|TBX5_ENST00000349716.5_Silent_p.G442G	p.G492G	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	2142	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		492					A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.1476C>T	CCDS9173.1																																																																																				0.602	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		17	18	0	0	0	1	0	17	18				
TBX1	6899	broad.mit.edu	37	22	19751681	19751681	+	Silent	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr22:19751681C>T	ENST00000329705.7	+	5	645	c.516C>T	c.(514-516)taC>taT	p.Y172Y	TBX1_ENST00000332710.4_Silent_p.Y172Y|TBX1_ENST00000359500.3_Silent_p.Y172Y	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	172					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GCTCCAGGTACGCCTTCCACA	0.667																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(514-516)taC>taT		T-box 1							42.0	31.0	34.0					22																	19751681		2198	4297	6495	SO:0001819	synonymous_variant	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19751681C>T	AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.516C>T	22.37:g.19751681C>T						TBX1_ENST00000329705.7_Silent_p.Y172Y|TBX1_ENST00000359500.3_Silent_p.Y172Y	p.Y172Y	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN			5	645	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	172					C6G493|C6G494|O43436|Q96RJ2	Silent	SNP	ENST00000329705.7	37	c.516C>T	CCDS13766.1																																																																																				0.667	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		10	17	0	0	0	1	0	10	17				
SEZ6	124925	broad.mit.edu	37	17	27286489	27286489	+	Splice_Site	SNP	G	G	A	rs181834398	byFrequency	TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:27286489G>A	ENST00000317338.12	-	9	2201	c.1773C>T	c.(1771-1773)gcC>gcT	p.A591A	SEZ6_ENST00000360295.9_Splice_Site_p.A591A|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Splice_Site_p.A591A|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	591	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGCTGCACACGGCTGGAAGGC	0.602													G|||	3	0.000599042	0.0	0.0	5008	,	,		19157	0.003		0.0	False		,,,				2504	0.0					ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.e9-1		seizure related 6 homolog (mouse)							64.0	69.0	67.0					17																	27286489		2073	4201	6274	SO:0001630	splice_region_variant	124925					integral to membrane|plasma membrane		g.chr17:27286489G>A	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1772-1C>T	17.37:g.27286489G>A						SEZ6_ENST00000442608.3_Splice_Site_p.A591_splice|SEZ6_ENST00000360295.9_Splice_Site_p.A591_splice|SEZ6_ENST00000335960.6_Intron|PIPOX_ENST00000583215.1_Intron	p.A591_splice			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		9	2201	-	Lung NSC(42;0.0137)		591			Sushi 2.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Splice_Site	SNP	ENST00000317338.12	37	c.1771_splice	CCDS45639.1																																																																																				0.602	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3		Silent	15	39	0	0	0	1	0	15	39				
SAT1	6303	broad.mit.edu	37	X	23801978	23801978	+	Silent	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:23801978G>A	ENST00000379270.4	+	3	359	c.180G>A	c.(178-180)ccG>ccA	p.P60P	RP13-314C10.5_ENST00000366134.2_RNA|SAT1_ENST00000379251.3_Silent_p.P90P|SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379253.3_Silent_p.P60P|Y_RNA_ENST00000365402.1_RNA|SAT1_ENST00000379254.1_Intron	NM_002970.2	NP_002961.1	Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			breast(1)|endometrium(3)|kidney(3)|lung(3)	10						CAGAAGTGCCGAAAGAGCACT	0.542																																						ENST00000379270.4																			0				breast(1)|endometrium(3)|kidney(3)|lung(3)	10						c.(178-180)ccG>ccA		spermidine/spermine N1-acetyltransferase 1	Spermine(DB00127)						94.0	82.0	86.0					X																	23801978		2203	4300	6503	SO:0001819	synonymous_variant	6303				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	g.chrX:23801978G>A	M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379270.4:c.180G>A	X.37:g.23801978G>A						SAT1_ENST00000379254.1_Intron|SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379253.3_Silent_p.P60P|SAT1_ENST00000379251.3_Silent_p.P90P	p.P60P	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN			3	359	+			60			N-acetyltransferase.		A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	ENST00000379270.4	37	c.180G>A	CCDS14207.1																																																																																				0.542	SAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056056.1	NM_002970		19	29	0	0	0	1	0	19	29				
BMPR1A	657	broad.mit.edu	37	10	88679128	88679128	+	Silent	SNP	C	C	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr10:88679128C>T	ENST00000372037.3	+	10	1605	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	356	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AAGGAAAGCCCGCAATTGCTC	0.483			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	"""Mis, N, F"""	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(1066-1068)ccC>ccT		bone morphogenetic protein receptor, type IA							55.0	58.0	57.0					10																	88679128		2203	4297	6500	SO:0001819	synonymous_variant	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88679128C>T	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.1068C>T	10.37:g.88679128C>T							p.P356P	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN			10	1605	+			356			Protein kinase.		A8K6U9|Q8NEN8	Silent	SNP	ENST00000372037.3	37	c.1068C>T	CCDS7378.1																																																																																				0.483	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		3	47	0	0	0	1	0	3	47				
HLA-DOA	3111	broad.mit.edu	37	6	32975239	32975239	+	Silent	SNP	G	G	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:32975239G>C	ENST00000229829.5	-	3	537	c.462C>G	c.(460-462)gtC>gtG	p.V154V	HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Silent_p.V124V	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	154	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CTCCCTCAGTGACAGTTTGGC	0.582																																						ENST00000229829.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(460-462)gtC>gtG		major histocompatibility complex, class II, DO alpha							186.0	176.0	180.0					6																	32975239		1511	2708	4219	SO:0001819	synonymous_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975239G>C	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.462C>G	6.37:g.32975239G>C						HLA-DOA_ENST00000450833.2_Silent_p.V124V|HLA-DOA_ENST00000495532.1_5'UTR	p.V154V	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN			3	537	-			154			Alpha-2.|Ig-like C1-type.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	c.462C>G	CCDS4763.1																																																																																				0.582	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		47	86	0	0	0	1	0	47	86				
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1426*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTAATACGTCGCCTTTTCTTT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Substitution - Nonsense(1)|Unknown(1)	p.R1426*(1)|p.?(1)	central_nervous_system(1)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4276-4278)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						236.0	201.0	213.0					X																	76909629		2203	4295	6498	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909629G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4276C>T	X.37:g.76909629G>A	ENSP00000362441:p.Arg1426*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	p.R1426*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4490	-			1426					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4276C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	44	11.200502	0.99530	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.41	3.6	0.41247	.	0.079753	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8333	13.0038	0.58692	0.0:0.0:0.397:0.603	.	.	.	.	X	1426;1388	.	ENSP00000362441:R1426X	R	-	1	2	ATRX	76796285	0.991000	0.36638	0.982000	0.44146	0.683000	0.39861	1.747000	0.38298	0.544000	0.28883	0.502000	0.49764	CGA		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		43	85	0	0	0	1	0	43	85				
PHYKPL	85007	broad.mit.edu	37	5	177649360	177649360	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr5:177649360T>C	ENST00000308158.5	-	8	1157	c.923A>G	c.(922-924)aAc>aGc	p.N308S	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	308						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	ACTCACCGTGTTGAAGTACTC	0.587																																						ENST00000308158.5																			0											c.(922-924)aAc>aGc		5-phosphohydroxy-L-lysine phospho-lyase							43.0	41.0	42.0					5																	177649360		2203	4300	6503	SO:0001583	missense	85007							g.chr5:177649360T>C	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.923A>G	5.37:g.177649360T>C	ENSP00000310978:p.Asn308Ser					PHYKPL_ENST00000481811.1_Intron	p.N308S	NM_153373.2	NP_699204.1					8	1157	-								A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.923A>G	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388298	0.82902	.	.	ENSG00000175309	ENST00000308158	T	0.18174	2.23	5.34	5.34	0.76211	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.090619	0.85682	D	0.000000	T	0.27594	0.0678	L	0.31804	0.96	0.80722	D	1	D;D	0.71674	0.975;0.998	D;D	0.67382	0.919;0.951	T	0.01561	-1.1324	10	0.36615	T	0.2	-1.1917	13.5768	0.61879	0.0:0.0:0.0:1.0	.	308;308	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	S	308	ENSP00000310978:N308S	ENSP00000310978:N308S	N	-	2	0	AGXT2L2	177581966	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.899000	0.87370	2.164000	0.68074	0.460000	0.39030	AAC		0.587	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		3	35	0	0	0	1	0	3	35				
TRBV6-6	28601	broad.mit.edu	37	7	142162187	142162187	+	RNA	SNP	G	G	A	rs180862142	byFrequency	TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr7:142162187G>A	ENST00000390371.3	-	0	131									T cell receptor beta variable 6-6																		TTCAGGATGCGGAATTTTGGG	0.517													.|||	3	0.000599042	0.0	0.0	5008	,	,		20895	0.0		0.002	False		,,,				2504	0.001					ENST00000390371.3																			0															A		0,3832		0,0,1916	100.0	96.0	97.0			-3.5	0.0	7		97	3,8271		0,3,4134	no	intergenic				0,3,6050	AA,AG,GG		0.0363,0.0,0.0248			142162187	3,12103	1916	4137	6053			0							g.chr7:142162187G>A	L36092		7q34	2012-02-07			ENSG00000211724	ENSG00000211724		"""T cell receptors / TRB locus"""	12231	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV66, TCRBV13S6A2T, TCRBV6S6			OTTHUMG00000158509		7.37:g.142162187G>A														0	131	-									RNA	SNP	ENST00000390371.3	37																																																																																						0.517	TRBV6-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351215.2	NG_001333		22	39	0	0	0	1	0	22	39				
KIF2B	84643	broad.mit.edu	37	17	51900796	51900796	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:51900796G>T	ENST00000268919.4	+	1	558	c.402G>T	c.(400-402)agG>agT	p.R134S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	134					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGATGTGAGGGTCCCCAGCA	0.587																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(400-402)agG>agT		kinesin family member 2B							61.0	63.0	63.0					17																	51900796		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900796G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.402G>T	17.37:g.51900796G>T	ENSP00000268919:p.Arg134Ser						p.R134S	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	558	+			134					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.402G>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	1.244	-0.620419	0.03636	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73363	-0.74	4.99	0.545	0.17190	.	0.764719	0.10709	N	0.643065	T	0.59142	0.2172	L	0.38175	1.15	0.09310	N	1	B	0.18968	0.032	B	0.17722	0.019	T	0.39251	-0.9623	10	0.09338	T	0.73	.	8.6332	0.33933	0.1167:0.1522:0.7311:0.0	.	134	Q8N4N8	KIF2B_HUMAN	S	134;57	ENSP00000268919:R134S	ENSP00000268919:R134S	R	+	3	2	KIF2B	49255795	0.000000	0.05858	0.006000	0.13384	0.855000	0.48748	-0.417000	0.07088	0.034000	0.15491	0.655000	0.94253	AGG		0.587	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		27	38	1	0	9.39395e-14	1	9.69698e-14	27	38				
SCGN	10590	broad.mit.edu	37	6	25682193	25682193	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:25682193C>G	ENST00000377961.2	+	7	654	c.486C>G	c.(484-486)gaC>gaG	p.D162E	SCGN_ENST00000334979.6_Intron	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	162	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGATTTTTGACAGAAATAAAG	0.353																																						ENST00000377961.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(484-486)gaC>gaG		secretagogin, EF-hand calcium binding protein							109.0	104.0	106.0					6																	25682193		2203	4300	6503	SO:0001583	missense	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25682193C>G	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.486C>G	6.37:g.25682193C>G	ENSP00000367197:p.Asp162Glu					SCGN_ENST00000334979.6_Intron	p.D162E	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN			7	654	+			162			EF-hand 4.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	c.486C>G	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995063	0.74703	.	.	ENSG00000079689	ENST00000377961	D	0.91011	-2.77	5.06	4.19	0.49359	EF-hand-like domain (1);	0.086182	0.85682	D	0.000000	D	0.93190	0.7831	M	0.88450	2.955	0.80722	D	1	D	0.53885	0.963	P	0.57371	0.819	D	0.93754	0.7061	10	0.62326	D	0.03	.	11.2675	0.49118	0.0:0.9136:0.0:0.0864	.	162	O76038	SEGN_HUMAN	E	162	ENSP00000367197:D162E	ENSP00000367197:D162E	D	+	3	2	SCGN	25790172	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.470000	0.66756	1.476000	0.48215	-0.150000	0.13652	GAC		0.353	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			16	34	0	0	0	1	0	16	34				
PDPK2P	653650	broad.mit.edu	37	16	2692434	2692436	+	lincRNA	DEL	TGA	TGA	-			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr16:2692434_2692436delTGA	ENST00000565111.1	-	0	1144				PDPK2_ENST00000382326.1_RNA																							TCCTCACCATTGATGGGGATGGG	0.631																																						ENST00000382326.1																			0																																																			0							g.chr16:2692434_2692436delTGA																													16.37:g.2692434_2692436delTGA														0	861_863	-									RNA	DEL	ENST00000565111.1	37																																																																																						0.631	CTD-3126B10.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436114.1			2	4						2	4	---	---	---	---
LIM2	3982	broad.mit.edu	37	19	51885677	51885678	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:51885677_51885678insA	ENST00000596399.1	-	3	366_367	c.319_320insT	c.(319-321)tccfs	p.S107fs	LIM2_ENST00000221973.3_Frame_Shift_Ins_p.S149fs	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	107					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CTCACTTGAGGAAAAAAACATG	0.564																																						ENST00000221973.3																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(445-447)ctcfs		lens intrinsic membrane protein 2, 19kDa																																				SO:0001589	frameshift_variant	3982				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	g.chr19:51885677_51885678insA		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.320dupT	19.37:g.51885684_51885684dupA	ENSP00000472090:p.Ser107fs					LIM2_ENST00000596399.1_Frame_Shift_Ins_p.L107fs	p.L149fs	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)	3	487_488	-		all_neural(266;0.0529)	107					Q6B083|Q9BXD0|Q9HAR5	Frame_Shift_Ins	INS	ENST00000596399.1	37	c.445_446insT	CCDS59415.1																																																																																				0.564	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657		30	29						30	29	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			0							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			7	95						7	95	---	---	---	---
