#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
TP53	7157	broad.mit.edu	37	17	7577131	7577132	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:7577131_7577132delGC	ENST00000269305.4	-	8	995_996	c.806_807delGC	c.(805-807)agcfs	p.S269fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S269fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.S269fs	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	269	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S269N(4)|p.S269S(3)|p.S269_F270>I(2)|p.?(2)|p.G266_E271delGRNSFE(2)|p.S269T(2)|p.G262_S269delGNLLGRNS(2)|p.G262_F270delGNLLGRNSF(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.L265_K305del41(1)|p.S269_F270insX(1)|p.E258fs*71(1)|p.S269R(1)|p.S269fs*34(1)|p.S269fs*21(1)|p.S269>XXXXX(1)|p.G262fs*2(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)	GCACCTCAAAGCTGTTCCGTCC	0.535		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)	ENST00000269305.4	0.800000	3.500000e-01	0.680000	0.440000	0.550000	0.569284	0.550000	0.550000		111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		38	Whole gene deletion(8)|Deletion - In frame(7)|Substitution - Missense(7)|Deletion - Frameshift(6)|Substitution - coding silent(3)|Unknown(2)|Complex - deletion inframe(2)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - insertion inframe(1)	p.0?(8)|p.S269N(4)|p.S269S(3)|p.S269_F270>I(2)|p.?(2)|p.G266_E271delGRNSFE(2)|p.S269T(2)|p.G262_S269delGNLLGRNS(2)|p.G262_F270delGNLLGRNSF(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.L265_K305del41(1)|p.S269_F270insX(1)|p.E258fs*71(1)|p.S269R(1)|p.S269fs*34(1)|p.S269fs*21(1)|p.S269>XXXXX(1)|p.G262fs*2(1)	haematopoietic_and_lymphoid_tissue(8)|large_intestine(4)|bone(4)|urinary_tract(3)|oesophagus(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|lung(2)|ovary(2)|cervix(1)|eye(1)|prostate(1)	24185						c.(805-807)agcfs	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)																																			SO:0001589	frameshift_variant	7157	0	0		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;	g.chr17:7577131_7577132delGC	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.806_807delGC	chr17.hg19:g.7577131_7577132delGC	ENSP00000269305:p.Ser269fs	1	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_ENST00000445888.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S269fs|TP53_ENST00000413465.2_Intron	p.S269fs	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	0	1	1	1.616440	P04637	P53_HUMAN		8	995_996	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	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	Frame_Shift_Del	DEL	ENST00000269305.4	0	1	hg19	c.806_807delGC	CCDS11118.1	0																																																																																								0.311420		TCGA-FB-AAPQ-01A-11D-A40W-08	0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	0	1		2	2		0		0	0	37		37	36	1	1.900000	-20.000000	1	0.470000	NM_000546			18	19		87	86	0		1	0		0		37			0.999990	6.421336e-01		0		12		18	87
POM121C	100101267	broad.mit.edu	37	7	75070256	75070257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:75070256_75070257insG	ENST00000257665.5	-	3	927_928	c.928_929insC	c.(928-930)cttfs	p.L310fs	POM121C_ENST00000453279.2_Frame_Shift_Ins_p.L68fs			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	310	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGGCCATCAAGGAATATTTGG	0.46																																						ENST00000257665.5	0.150000	6.000000e-02	0.130000	0.080000	0.100000	0.117350	0.100000	0.100000																										0				14						c.(928-930)cttfs		POM121 transmembrane nucleoporin C																																				SO:0001589	frameshift_variant	100101267	0	0					g.chr7:75070256_75070257insG		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.929dupC	chr7.hg19:g.75070258_75070258dupG	ENSP00000257665:p.Leu310fs	0					POM121C_ENST00000453279.2_Frame_Shift_Ins_p.L68fs	p.L310fs			1	2	3	2.075402	A8CG34	P121C_HUMAN		3	927_928	-			O75115|Q9Y2N3|Q9Y4S7	Frame_Shift_Ins	INS	ENST00000257665.5	0	1	hg19	c.928_929insC		0																																																																																								0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.460	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	0	0	1		2	2		0		0	0	664		664	653	1	1.900000	-2.323878	0	0.470000	NM_001099415			41	31		1609	699	0		1	0		0		664			0.999997	5.524058e-02		0		15		41	1609
CFAP58	159686	broad.mit.edu	37	10	106166509	106166509	+	Silent	SNP	C	C	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:106166509C>A	ENST00000369704.3	+	15	2348	c.2214C>A	c.(2212-2214)atC>atA	p.I738I		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		738						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGCGTCTCATCAGCAAGACTG	0.468																																						ENST00000369704.3	1.000000	1.000000e-02	0.080000	0.020000	0.040000	0.080361	0.040000	0.040000																										0				52						c.(2212-2214)atC>atA									154.0	154.0	154.0					10																	106166509		2203	4300	6503	SO:0001819	synonymous_variant	0	1	121412	31				g.chr10:106166509C>A																												ENST00000369704.3:c.2214C>A	chr10.hg19:g.106166509C>A		0						p.I738I	NM_001008723.1	NP_001008723.1	1	2	3	2.085566	Q5T655	CC147_HUMAN		15	2348	+		Colorectal(252;0.103)|Breast(234;0.122)	D3DRA6|Q8NA27	Silent	SNP	ENST00000369704.3	0	1	hg19	c.2214C>A	CCDS31282.1	0																																																																																								0.474936		TCGA-FB-AAPQ-01A-11D-A40W-08	0.468	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1	0	0	1		2	2		0		0	0	178		178	177	1	1.900000	-2.596454	1	0.470000				6	6		557	552	0		1			0		178			0.964155	0		0		0		6	557
TMEM26	219623	broad.mit.edu	37	10	63170325	63170325	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:63170325A>C	ENST00000399298.3	-	6	1230	c.862T>G	c.(862-864)Ttc>Gtc	p.F288V	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	288						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCGGCAAAGAACACCAGCATC	0.507																																						ENST00000399298.3	1.000000	7.400000e-01	1.000000	0.850000	0.970000	0.941600	0.970000	1.000000																										0				18						c.(862-864)Ttc>Gtc		transmembrane protein 26							103.0	108.0	106.0					10																	63170325		2114	4234	6348	SO:0001583	missense	219623	0	0					g.chr10:63170325A>C	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.862T>G	chr10.hg19:g.63170325A>C	ENSP00000382237:p.Phe288Val	0					TMEM26_ENST00000507507.1_5'UTR	p.F288V	NM_178505.6	NP_848600.2	1	2	3	2.085566	Q6ZUK4	TMM26_HUMAN		6	1230	-	Prostate(12;0.0112)		Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	0	1	hg19	c.862T>G	CCDS41530.1	1	.	.	.	.	.	.	.	.	.	.	A	32	5.156036	0.94686	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86486	0.1794	9	0.87932	D	0	-0.0826	16.4288	0.83833	1.0:0.0:0.0:0.0	.	288	Q6ZUK4	TMM26_HUMAN	V	288	.	ENSP00000382237:F288V	F	-	1	0	0	TMEM26	62840331	62840331	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.906000	0.92626	2.282000	0.76494	0.533000	0.62120	TTC	0.474936		TCGA-FB-AAPQ-01A-11D-A40W-08	0.507	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	0	0	1		2	2		0		0	0	79		79	79	1	1.900000	-20.000000	1	0.470000	NM_178505			45	44		153	152	0		1			0		79			1.000000	0		0		0		45	153
VCL	7414	broad.mit.edu	37	10	75849902	75849902	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:75849902G>A	ENST00000211998.4	+	10	1392	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	VCL_ENST00000372755.3_Missense_Mutation_p.R433H|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	433	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GACATTCTACGTTCCCTTGGG	0.408																																						ENST00000211998.4	1.000000	5.000000e-02	0.160000	0.070000	0.100000	0.141780	0.100000	0.100000																									VCL/ALK(4)	0				20						c.(1297-1299)cGt>cAt		vinculin							166.0	160.0	162.0					10																	75849902		2203	4300	6503	SO:0001583	missense	7414	1	121412	30				g.chr10:75849902G>A	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1298G>A	chr10.hg19:g.75849902G>A	ENSP00000211998:p.Arg433His	0					VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.R433H	p.R433H	NM_014000.2	NP_054706.1	1	2	3	2.085566	P18206	VINC_HUMAN		10	1392	+	Prostate(51;0.0112)		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	0	1	hg19	c.1298G>A	CCDS7341.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.470139	0.96274	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.36878	1.23;1.23;1.23	5.54	5.54	0.83059	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	L	0.51422	1.61	0.80722	D	1	D;D;P	0.71674	0.998;0.995;0.469	D;D;B	0.71184	0.972;0.96;0.118	T	0.53885	-0.8375	10	0.52906	T	0.07	.	19.546	0.95297	0.0:0.0:1.0:0.0	.	360;433;433	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	H	433;433;340;360;105	ENSP00000361841:R433H;ENSP00000211998:R433H;ENSP00000415489:R105H	ENSP00000211998:R433H	R	+	2	0	0	VCL	75519908	75519908	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.341000	0.97041	2.626000	0.88956	0.585000	0.79938	CGT	0.474936		TCGA-FB-AAPQ-01A-11D-A40W-08	0.408	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1		2	2		0		0	0	153		153	153	1	1.900000	-3.167381	1	0.470000	NM_003373, NM_014000			10	10		393	390	0		1	0		0		153			0.996847	2.661909e-01		0		37		10	393
PTPRE	5791	broad.mit.edu	37	10	129877829	129877829	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:129877829G>T	ENST00000254667.3	+	20	2177	c.1898G>T	c.(1897-1899)gGa>gTa	p.G633V	PTPRE_ENST00000419012.2_Missense_Mutation_p.G633V|PTPRE_ENST00000306042.5_Missense_Mutation_p.G575V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	633	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	TGCAGTGCCGGAGCTGGGCGA	0.483																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3	1.000000	8.700000e-01	1.000000	0.980000	0.990000	0.988363	0.990000	1.000000																										0				22						c.(1897-1899)gGa>gTa		protein tyrosine phosphatase, receptor type, E	Alendronate(DB00630)						103.0	100.0	101.0					10																	129877829		2203	4300	6503	SO:0001583	missense	5791	0	0					g.chr10:129877829G>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1898G>T	chr10.hg19:g.129877829G>T	ENSP00000254667:p.Gly633Val	0					PTPRE_ENST00000306042.5_Missense_Mutation_p.G575V|PTPRE_ENST00000419012.2_Missense_Mutation_p.G633V	p.G633V	NM_006504.4	NP_006495.1	1	2	3	2.083607	P23469	PTPRE_HUMAN		20	2177	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	0	1	hg19	c.1898G>T	CCDS7657.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364034	0.82353	.	.	ENSG00000132334	ENST00000254667;ENST00000419012;ENST00000306042	T;T;T	0.73363	-0.74;-0.74;-0.74	4.65	4.65	0.58169	4.65	4.65	0.58169	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92655	0.7666	H	0.99573	4.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.95911	0.8923	10	0.87932	D	0	.	18.0677	0.89396	0.0:0.0:1.0:0.0	.	633;575;633	Q5VWH4;P23469-2;P23469	.;.;PTPRE_HUMAN	V	633;633;575	ENSP00000254667:G633V;ENSP00000402337:G633V;ENSP00000303350:G575V	ENSP00000254667:G633V	G	+	2	0	0	PTPRE	129767819	129767819	1.000000	0.71417	0.870000	0.34147	0.831000	0.47069	9.519000	0.98025	2.560000	0.86352	0.655000	0.94253	GGA	0.474936		TCGA-FB-AAPQ-01A-11D-A40W-08	0.483	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1	0	0	1		2	2		0		0	0	103		103	103	1	1.900000	-4.881883	1	0.470000				67	67		196	194	0		1	1		0		103			1.000000	9.904369e-01		9		15		67	196
DYNC2H1	79659	broad.mit.edu	37	11	103006455	103006455	+	Silent	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:103006455A>G	ENST00000375735.2	+	17	2496	c.2352A>G	c.(2350-2352)ggA>ggG	p.G784G	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.G784G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	784	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTAGACAGGGACGATTACAAT	0.318																																						ENST00000375735.2	1.000000	6.000000e-01	0.980000	0.710000	0.830000	0.838654	0.830000	1.000000																										0				33						c.(2350-2352)ggA>ggG		dynein, cytoplasmic 2, heavy chain 1							33.0	31.0	32.0					11																	103006455		1784	4052	5836	SO:0001819	synonymous_variant	79659	0	0					g.chr11:103006455A>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2352A>G	chr11.hg19:g.103006455A>G		0					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.G784G	p.G784G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	1	2	3	2.056087	Q8NCM8	DYHC2_HUMAN		17	2496	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	0	1	hg19	c.2352A>G	CCDS53701.1	0																																																																																								0.471243		TCGA-FB-AAPQ-01A-11D-A40W-08	0.318	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	0	0	1		2	2		0		0	0	39		39	39	1	1.900000	-20.000000	1	0.470000	XM_370652			33	33		135	133	0		1	1		0		39			1.000000	1.056712e-01		3		0		33	135
ANKK1	255239	broad.mit.edu	37	11	113270540	113270540	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:113270540G>A	ENST00000303941.3	+	8	1943	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	617							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A617S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGAGAGCCACGCAAACATGGG	0.637																																						ENST00000303941.3	1.000000	5.500000e-01	1.000000	0.720000	0.920000	0.880126	0.920000	1.000000																										1	Substitution - Missense(1)	p.A617S(1)	lung(1)	29						c.(1849-1851)Gca>Aca		ankyrin repeat and kinase domain containing 1							21.0	26.0	24.0					11																	113270540		2122	4246	6368	SO:0001583	missense	255239	1	121016	30				g.chr11:113270540G>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1849G>A	chr11.hg19:g.113270540G>A	ENSP00000306678:p.Ala617Thr	0						p.A617T	NM_178510.1	NP_848605.1	1	2	3	2.056087	Q8NFD2	ANKK1_HUMAN		8	1943	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		Missense_Mutation	SNP	ENST00000303941.3	0	1	hg19	c.1849G>A	CCDS44734.1	1	.	.	.	.	.	.	.	.	.	.	G	4.640	0.119014	0.08881	.	.	ENSG00000170209	ENST00000303941	T	0.25912	1.77	4.87	2.91	0.33838	4.87	2.91	0.33838	Ankyrin repeat-containing domain (4);	0.343915	0.24211	N	0.040540	T	0.23886	0.0578	M	0.62266	1.93	0.09310	N	1	B	0.22414	0.069	B	0.17979	0.02	T	0.19745	-1.0296	10	0.48119	T	0.1	-3.4949	7.1624	0.25671	0.1698:0.0:0.693:0.1372	.	617	Q8NFD2	ANKK1_HUMAN	T	617	ENSP00000306678:A617T	ENSP00000306678:A617T	A	+	1	0	0	ANKK1	112775750	112775750	0.999000	0.42202	0.008000	0.14137	0.045000	0.14185	3.594000	0.54008	0.231000	0.21079	-1.119000	0.02030	GCA	0.471243		TCGA-FB-AAPQ-01A-11D-A40W-08	0.637	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	0	0	1		2	2		0		0	0	15		15	15	1	1.900000	-20.000000	1	0.470000	NM_178510			14	14		51	51	0		1			0		15			0.999868	0		0		0		14	51
IFITM3	10410	broad.mit.edu	37	11	319946	319946	+	Silent	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:319946G>T	ENST00000399808.4	-	2	530	c.294C>A	c.(292-294)gcC>gcA	p.A98A	RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Silent_p.A77A|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.10_ENST00000534271.1_RNA|IFITM3_ENST00000526811.1_Silent_p.A77A|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	98					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGAGGCATAGGCCTGGGCCC	0.617																																						ENST00000399808.4	1.000000	7.600000e-01	1.000000	0.860000	0.980000	0.948404	0.980000	1.000000																										0				18						c.(292-294)gcC>gcA		interferon induced transmembrane protein 3							54.0	57.0	56.0					11																	319946		1968	4117	6085	SO:0001819	synonymous_variant	10410	0	0					g.chr11:319946G>T	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.294C>A	chr11.hg19:g.319946G>T		0					IFITM3_ENST00000526811.1_Silent_p.A77A|IFITM3_ENST00000602735.1_Silent_p.A77A|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA	p.A98A	NM_021034.2	NP_066362.2	1	2	3	2.070052	Q01628	IFM3_HUMAN		2	530	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	Q53Y76|Q96HK8|Q96J15	Silent	SNP	ENST00000399808.4	0	1	hg19	c.294C>A	CCDS41585.1	1																																																																																								0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.617	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	0	0	1		2	2		0		0	0	73		73	103	1	1.900000	-20.000000	1	0.470000	NM_021034			55	54		184	182	0		1	1		0		73			1.000000	1		528		1966		55	184
CYP2R1	120227	broad.mit.edu	37	11	14901766	14901766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:14901766C>A	ENST00000334636.5	-	3	962	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	CYP2R1_ENST00000532378.1_Nonsense_Mutation_p.E73*|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	306					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	ATGATGAGTTCACCCACTGAG	0.393																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000334636.5	0.370000	1.100000e-01	0.290000	0.150000	0.210000	0.230707	0.210000	0.200000																										0				14						c.(916-918)Gaa>Taa		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						68.0	65.0	66.0					11																	14901766		2200	4293	6493	SO:0001587	stop_gained	120227	0	0					g.chr11:14901766C>A	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.916G>T	chr11.hg19:g.14901766C>A	ENSP00000334592:p.Glu306*	0					CYP2R1_ENST00000532378.1_Nonsense_Mutation_p.E73*|CYP2R1_ENST00000526489.1_5'UTR	p.E306*	NM_024514.4	NP_078790.2	1	2	3	2.070052	Q6VVX0	CP2R1_HUMAN		3	962	-			Q2M3H3|Q5RT65	Nonsense_Mutation	SNP	ENST00000334636.5	0	1	hg19	c.916G>T	CCDS7818.1	0	.	.	.	.	.	.	.	.	.	.	C	43	10.097504	0.99336	.	.	ENSG00000186104	ENST00000532378;ENST00000334636	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.042761	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	73;306	.	ENSP00000334592:E306X	E	-	1	0	0	CYP2R1	14858342	14858342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA	0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.393	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	0	0	1		2	2		0		0	0	97		97	97	1	1.900000	-14.089660	1	0.470000	NM_024514			12	11		234	228	0		1	0		0		97			0.999002	6.401133e-02		0		8		12	234
GYLTL1B	120071	broad.mit.edu	37	11	45947827	45947827	+	Missense_Mutation	SNP	T	T	C	rs201277259		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:45947827T>C	ENST00000531526.1	+	8	1048	c.937T>C	c.(937-939)Tgt>Cgt	p.C313R	GYLTL1B_ENST00000529052.1_Missense_Mutation_p.C282R|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.C282R|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.C313R|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.C40R|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.C313R	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	313					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GCGTCTGCCTTGTGTCTGGAA	0.597																																						ENST00000531526.1	0.880000	5.200000e-01	0.780000	0.600000	0.680000	0.694721	0.680000	0.690000																										0				22						c.(937-939)Tgt>Cgt		glycosyltransferase-like 1B			ARG/CYS	0,4406		0,0,2203	89.0	85.0	86.0		937	5.9	1.0	11		86	1,8597	1.2+/-3.3	0,1,4298	yes	missense	GYLTL1B	NM_152312.3	180	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	313/722	45947827	1,13003	2203	4299	6502	SO:0001583	missense	120071	20	121412	45				g.chr11:45947827T>C		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.937T>C	chr11.hg19:g.45947827T>C	ENSP00000432869:p.Cys313Arg	0					GYLTL1B_ENST00000389968.3_Missense_Mutation_p.C40R|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.C313R|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.C282R|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.C313R|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.C282R	p.C313R	NM_152312.3	NP_689525.3	1	2	3	2.070052	Q8N3Y3	LARG2_HUMAN		8	1048	+			A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	0	1	hg19	c.937T>C	CCDS31473.1	0	.	.	.	.	.	.	.	.	.	.	t	20.3	3.960946	0.74016	0.0	1.16E-4	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139	T;T;T;T;T;T	0.62639	2.01;2.01;2.01;0.01;2.01;2.01	5.89	5.89	0.94794	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86089	0.1549	10	0.87932	D	0	-28.9074	16.3188	0.82938	0.0:0.0:0.0:1.0	.	282;313	E9PIZ2;Q8N3Y3	.;LARG2_HUMAN	R	282;313;313;40;313;282	ENSP00000431932:C282R;ENSP00000432869:C313R;ENSP00000385235:C313R;ENSP00000374618:C40R;ENSP00000324570:C313R;ENSP00000445044:C282R	ENSP00000324570:C313R	C	+	1	0	0	GYLTL1B	45904403	45904403	1.000000	0.71417	0.995000	0.50966	0.428000	0.31595	7.688000	0.84153	2.252000	0.74401	0.520000	0.50463	TGT	0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.597	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	0	0	1		2	2		0		0	0	121		121	120	1	1.900000	-20.000000	1	0.470000	NM_152312			55	54		288	284	0		1	1		0		121			1.000000	3.180715e-01		4		3		55	288
CELF1	10658	broad.mit.edu	37	11	47510453	47510453	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:47510453C>G	ENST00000358597.3	-	1	113	c.114G>C	c.(112-114)caG>caC	p.Q38H	CELF1_ENST00000310513.5_Missense_Mutation_p.Q38H|CELF1_ENST00000361904.3_Missense_Mutation_p.Q38H|CELF1_ENST00000531165.1_Missense_Mutation_p.Q65H|CELF1_ENST00000395290.2_Missense_Mutation_p.Q38H|AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000395292.2_Missense_Mutation_p.Q38H|CELF1_ENST00000532048.1_Missense_Mutation_p.Q65H			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	38	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CAGCACCATACTGTTCGAAGA	0.473																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000358597.3	0.090000	0	0.060000	0.010000	0.030000	0.052285	0.030000	0.040000																										0				18						c.(112-114)caG>caC		CUGBP, Elav-like family member 1							161.0	161.0	161.0					11																	47510453		2201	4298	6499	SO:0001583	missense	10658	0	0					g.chr11:47510453C>G	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.114G>C	chr11.hg19:g.47510453C>G	ENSP00000351409:p.Gln38His	0					CELF1_ENST00000361904.3_Missense_Mutation_p.Q38H|CELF1_ENST00000395290.2_Missense_Mutation_p.Q38H|CELF1_ENST00000532048.1_Missense_Mutation_p.Q65H|CELF1_ENST00000310513.5_Missense_Mutation_p.Q38H|CELF1_ENST00000531165.1_Missense_Mutation_p.Q65H|AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000395292.2_Missense_Mutation_p.Q38H	p.Q38H			1	2	3	2.070052	Q92879	CELF1_HUMAN		1	113	-			B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	0	1	hg19	c.114G>C	CCDS31482.1	0	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104279	0.76983	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048;ENST00000530151;ENST00000528434;ENST00000525841;ENST00000543178;ENST00000535982;ENST00000526419	T;T;T;T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.69	4.77	0.60923	5.69	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.056069	0.64402	D	0.000001	T	0.33000	0.0848	L	0.55481	1.735	0.48452	D	0.999654	D;D;P;P;D;P	0.67145	0.996;0.988;0.679;0.679;0.988;0.725	P;P;B;B;P;B	0.59595	0.86;0.792;0.111;0.111;0.792;0.116	T	0.06285	-1.0835	10	0.72032	D	0.01	-6.7424	14.3806	0.66908	0.0:0.9293:0.0:0.0707	.	38;65;65;38;38;38	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	H	38;38;38;38;38;65;65;38;65;38;38;65;38	ENSP00000378705:Q38H;ENSP00000351409:Q38H;ENSP00000378706:Q38H;ENSP00000308386:Q38H;ENSP00000354639:Q38H;ENSP00000436864:Q65H;ENSP00000435926:Q65H;ENSP00000433986:Q38H;ENSP00000435320:Q65H;ENSP00000436191:Q38H;ENSP00000444825:Q38H;ENSP00000438044:Q65H;ENSP00000435423:Q38H	ENSP00000308386:Q38H	Q	-	3	2	2	CELF1	47467029	47467029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.309000	0.43699	1.402000	0.46780	0.561000	0.74099	CAG	0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.473	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	0	0	1		2	2		0		0	0	290		290	285	1	1.900000	-3.009632	1	0.470000	NM_006560			6	6		685	680	0		1	0		0		290			0.964284	9.560576e-03		0		14		6	685
NRXN2	9379	broad.mit.edu	37	11	64419602	64419602	+	Missense_Mutation	SNP	G	G	A	rs200231532		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:64419602G>A	ENST00000377551.1	-	12	2652	c.2441C>T	c.(2440-2442)gCg>gTg	p.A814V	NRXN2_ENST00000265459.6_Missense_Mutation_p.A814V|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.A774V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A807V			Q9P2S2	NRX2A_HUMAN	neurexin 2	814	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTGTGCCCCGCAAACAGCGT	0.572																																						ENST00000377551.1	1.000000	6.800000e-01	1.000000	0.810000	0.970000	0.927633	0.970000	1.000000																										0				71						c.(2440-2442)gCg>gTg		neurexin 2							98.0	70.0	79.0					11																	64419602		2201	4297	6498	SO:0001583	missense	9379	7	121412	41				g.chr11:64419602G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2441C>T	chr11.hg19:g.64419602G>A	ENSP00000366774:p.Ala814Val	0					NRXN2_ENST00000265459.6_Missense_Mutation_p.A814V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A774V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A807V|AP001092.4_ENST00000433606.1_RNA	p.A814V			1	2	3	2.056087	Q9P2S2	NRX2A_HUMAN		12	2652	-			A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	0	1	hg19	c.2441C>T	CCDS8077.1	1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417206	0.62511	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	4.91	4.91	0.64330	4.91	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42053	U	0.000778	T	0.68274	0.2983	L	0.37897	1.145	0.47659	D	0.999482	P;P;P	0.47545	0.897;0.871;0.643	B;B;B	0.37833	0.151;0.259;0.101	T	0.73789	-0.3872	10	0.54805	T	0.06	.	15.6201	0.76799	0.0:0.0:1.0:0.0	.	774;814;560	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	V	814;774;814;774;807	ENSP00000366774:A814V;ENSP00000366782:A774V;ENSP00000265459:A814V;ENSP00000386416:A807V	ENSP00000265459:A814V	A	-	2	0	0	NRXN2	64176178	64176178	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.259000	0.58828	2.553000	0.86117	0.561000	0.74099	GCG	0.471243		TCGA-FB-AAPQ-01A-11D-A40W-08	0.572	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	0	0	1		2	2		0		0	0	45		45	45	1	1.900000	-3.627770	1	0.470000	NM_015080			27	26		91	88	0		1			0		45			1.000000	0		0		0		27	91
USP35	57558	broad.mit.edu	37	11	77919947	77919947	+	Silent	SNP	G	G	A	rs555148298		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:77919947G>A	ENST00000529308.1	+	9	1791	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	USP35_ENST00000441408.2_Silent_p.T96T|USP35_ENST00000530267.1_Silent_p.T78T|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.T241T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	510	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CATCCTGGACGCCCTGGTTCA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		22590	0.0		0.0	False		,,,				2504	0.001					ENST00000529308.1	1.000000	8.900000e-01	1.000000	0.970000	0.990000	0.988999	0.990000	1.000000																										0				23						c.(1528-1530)acG>acA		ubiquitin specific peptidase 35							90.0	93.0	92.0					11																	77919947		2023	4171	6194	SO:0001819	synonymous_variant	57558	6	120992	41				g.chr11:77919947G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1530G>A	chr11.hg19:g.77919947G>A		0					USP35_ENST00000530267.1_Silent_p.T78T|USP35_ENST00000441408.2_Silent_p.T96T|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.T241T	p.T510T	NM_020798.2	NP_065849.1	1	2	3	2.056087	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)	9	1791	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)			Silent	SNP	ENST00000529308.1	0	1	hg19	c.1530G>A	CCDS41693.1	1																																																																																								0.471243		TCGA-FB-AAPQ-01A-11D-A40W-08	0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	0	0	1		2	2		0		0	0	175		175	175	1	1.900000	-20.000000	1	0.470000	XM_290527			132	130		402	396	0		1	1		0		175			1.000000	3.603632e-01		2		3		132	402
NCAPD3	23310	broad.mit.edu	37	11	134031774	134031774	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:134031774T>C	ENST00000534548.2	-	28	3650	c.3586A>G	c.(3586-3588)Aat>Gat	p.N1196D		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1196					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCTATGAAATTCCTCTTCTGA	0.403																																						ENST00000534548.2	1.000000	7.000000e-01	1.000000	0.830000	0.980000	0.934355	0.980000	1.000000																										0				71						c.(3586-3588)Aat>Gat		non-SMC condensin II complex, subunit D3							51.0	47.0	49.0					11																	134031774		2201	4296	6497	SO:0001583	missense	23310	0	0					g.chr11:134031774T>C	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3586A>G	chr11.hg19:g.134031774T>C	ENSP00000433681:p.Asn1196Asp	0						p.N1196D	NM_015261.2	NP_056076.1	1	2	3	2.056087	P42695	CNDD3_HUMAN		28	3650	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	0	1	hg19	c.3586A>G	CCDS31723.1	1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196500	0.79015	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T;T	0.63417	-0.04;-0.04;-0.04	5.7	5.7	0.88788	5.7	5.7	0.88788	Armadillo-type fold (1);	0.136711	0.64402	D	0.000004	T	0.78761	0.4334	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.974	T	0.81611	-0.0854	10	0.72032	D	0.01	-34.3963	12.4826	0.55852	0.0:0.0:0.1394:0.8606	.	1196;256	P42695;Q96FA6	CNDD3_HUMAN;.	D	1196;101;232	ENSP00000433681:N1196D;ENSP00000432532:N101D;ENSP00000435173:N232D	ENSP00000432532:N101D	N	-	1	0	0	NCAPD3	133536984	133536984	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.796000	0.55507	2.170000	0.68504	0.533000	0.62120	AAT	0.471243		TCGA-FB-AAPQ-01A-11D-A40W-08	0.403	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	0	0	1		2	2		0		0	0	90		90	90	1	1.900000	-20.000000	1	0.470000	NM_015261			30	29		100	99	0		1	0		0		90			1.000000	5.126628e-01		0		7		30	100
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	7.900000e-01	1.000000	0.910000	0.990000	0.967915	0.990000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	2	121404	44	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	1	2	3	2.097227	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	0	1	hg19	c.35G>A	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.477369		TCGA-FB-AAPQ-01A-11D-A40W-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	1		2	2		0		0	0	102		102	102	1	1.900000	-20.000000	1	0.470000	NM_033360			45	45		142	141	0		1	1		0		102			1.000000	9.998213e-01		25		20		45	142
NOD2	64127	broad.mit.edu	37	16	50745137	50745137	+	Missense_Mutation	SNP	C	C	T	rs375201229		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:50745137C>T	ENST00000300589.2	+	4	1420	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAAGTACATCCGCACCGAGTT	0.622																																						ENST00000300589.2	1.000000	8.300000e-01	1.000000	0.930000	0.990000	0.975749	0.990000	1.000000																										0				52						c.(1315-1317)Cgc>Tgc		nucleotide-binding oligomerization domain containing 2		C	CYS/ARG	0,4396		0,0,2198	54.0	58.0	56.0		1315	3.2	0.0	16		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOD2	NM_022162.1	180	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	439/1041	50745137	1,12995	2198	4300	6498	SO:0001583	missense	64127	8	121408	42				g.chr16:50745137C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1315C>T	chr16.hg19:g.50745137C>T	ENSP00000300589:p.Arg439Cys	0					RP11-327F22.6_ENST00000602304.1_RNA	p.R439C	NM_022162.1	NP_071445.1	1	2	3	2.083182	Q9HC29	NOD2_HUMAN		4	1420	+		all_cancers(37;0.0156)	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	0	1	hg19	c.1315C>T	CCDS10746.1	1	.	.	.	.	.	.	.	.	.	.	C	7.462	0.644800	0.14451	0.0	1.16E-4	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.79033	-1.23	5.26	3.25	0.37280	5.26	3.25	0.37280	.	0.304254	0.28871	N	0.013868	T	0.72867	0.3514	M	0.65975	2.015	0.39682	D	0.97091	B;B;B	0.21606	0.05;0.058;0.046	B;B;B	0.21151	0.02;0.033;0.027	T	0.68880	-0.5292	10	0.54805	T	0.06	.	8.3773	0.32451	0.0:0.792:0.0:0.208	.	223;412;439	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	C	412;439	ENSP00000300589:R439C	ENSP00000300589:R439C	R	+	1	0	0	NOD2	49302638	49302638	0.028000	0.19301	0.001000	0.08648	0.212000	0.24457	0.734000	0.26101	0.562000	0.29204	0.561000	0.74099	CGC	0.474936		TCGA-FB-AAPQ-01A-11D-A40W-08	0.622	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	0	0	1		2	2		0		0	0	99		99	98	1	1.900000	-4.049446	1	0.470000	NM_022162			79	77		250	246	0		1	0		0		99			1.000000	0		0		1		79	250
SLC12A4	6560	broad.mit.edu	37	16	67980419	67980419	+	Missense_Mutation	SNP	G	G	A	rs370220716		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:67980419G>A	ENST00000316341.3	-	18	2499	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LCAT_ENST00000264005.5_5'Flank|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R789W	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	787					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGTTATGCCGCATGCCTCCC	0.652																																						ENST00000316341.3	1.000000	2.000000e-02	0.120000	0.040000	0.070000	0.111909	0.070000	0.080000																										0				29						c.(2359-2361)Cgg>Tgg		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	56.0	57.0	57.0		2359,2365,2341,2266,2359	2.2	1.0	16		57	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	101,101,101,101,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	787/1080,789/1088,781/1080,756/1055,787/1086	67980419	1,12993	2198	4299	6497	SO:0001583	missense	6560	1	121396	32				g.chr16:67980419G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2359C>T	chr16.hg19:g.67980419G>A	ENSP00000318557:p.Arg787Trp	0					SLC12A4_ENST00000338335.3_Intron|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R789W	p.R787W	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	1	2	3	2.077825	Q9UP95	S12A4_HUMAN		18	2499	-		Ovarian(137;0.192)	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	0	1	hg19	c.2359C>T	CCDS10855.1	0	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728223	0.69074	0.0	1.16E-4	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.57	2.23	0.28157	4.57	2.23	0.28157	.	0.048575	0.85682	D	0.000000	D	0.94837	0.8332	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.63046	0.989;0.986;0.992;0.992;0.992;0.986	P;P;D;P;P;P	0.63381	0.877;0.582;0.914;0.761;0.828;0.582	D	0.93878	0.7168	10	0.87932	D	0	.	11.329	0.49465	0.0:0.0:0.3051:0.6949	.	789;787;756;781;787;787	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	W	789;756;781;787	ENSP00000395983:R789W;ENSP00000438334:R756W;ENSP00000445962:R781W;ENSP00000318557:R787W	ENSP00000318557:R787W	R	-	1	2	2	SLC12A4	66537920	66537920	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.502000	0.53332	0.220000	0.20860	-0.262000	0.10625	CGG	0.474936		TCGA-FB-AAPQ-01A-11D-A40W-08	0.652	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	0	0	1		2	2		0		0	0	100		100	100	1	1.900000	-2.416984	0	0.470000	NM_005072			5	5		293	286	0		1	0		0		100			0.933504	4.855636e-02		0		17		5	293
ADAMTS18	170692	broad.mit.edu	37	16	77317858	77317858	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:77317858T>C	ENST00000282849.5	-	23	4079	c.3661A>G	c.(3661-3663)Atc>Gtc	p.I1221V	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1221	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAAGATCAGATCTTCCTTGTG	0.512																																						ENST00000282849.5	0.380000	1.300000e-01	0.300000	0.170000	0.230000	0.247358	0.230000	0.220000																										0				118						c.(3661-3663)Atc>Gtc		ADAM metallopeptidase with thrombospondin type 1 motif, 18							191.0	155.0	167.0					16																	77317858		2198	4300	6498	SO:0001583	missense	170692	0	0					g.chr16:77317858T>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3661A>G	chr16.hg19:g.77317858T>C	ENSP00000282849:p.Ile1221Val	0					RP11-538I12.3_ENST00000561672.1_RNA	p.I1221V	NM_199355.2	NP_955387.1	1	2	3	2.076040	Q8TE60	ATS18_HUMAN		23	4079	-			Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	0	1	hg19	c.3661A>G	CCDS10926.1	0	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199573	0.58126	.	.	ENSG00000140873	ENST00000282849	T	0.59083	0.29	5.82	5.82	0.92795	5.82	5.82	0.92795	PLAC (1);	0.342462	0.35320	N	0.003290	T	0.40595	0.1123	N	0.08118	0	0.34873	D	0.743774	B	0.16396	0.017	B	0.15870	0.014	T	0.51545	-0.8692	10	0.87932	D	0	.	15.3675	0.74535	0.0:0.0:0.0:1.0	.	1221	Q8TE60	ATS18_HUMAN	V	1221	ENSP00000282849:I1221V	ENSP00000282849:I1221V	I	-	1	0	0	ADAMTS18	75875359	75875359	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	5.218000	0.65257	2.225000	0.72522	0.533000	0.62120	ATC	0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.512	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1	0	0	1		2	2		0		0	0	107		107	107	1	1.900000	-17.687750	1	0.470000				15	15		267	263	0		1			0		107			0.999870	0		0		0		15	267
ZCCHC14	23174	broad.mit.edu	37	16	87466772	87466772	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:87466772G>A	ENST00000268616.4	-	3	536	c.319C>T	c.(319-321)Cac>Tac	p.H107Y		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	107							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTTTTTGTGTGTGATAATCCC	0.343																																						ENST00000268616.4	0.310000	4.000000e-02	0.200000	0.070000	0.120000	0.149848	0.120000	0.120000																										0				36						c.(319-321)Cac>Tac		zinc finger, CCHC domain containing 14							290.0	275.0	280.0					16																	87466772		2197	4299	6496	SO:0001583	missense	23174	0	0					g.chr16:87466772G>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.319C>T	chr16.hg19:g.87466772G>A	ENSP00000268616:p.His107Tyr	0						p.H107Y	NM_015144.2	NP_055959.1	1	2	3	2.076040	Q8WYQ9	ZCH14_HUMAN		3	536	-			D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	0	1	hg19	c.319C>T	CCDS10961.1	0	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898473	0.72639	.	.	ENSG00000140948	ENST00000268616	T	0.67865	-0.29	5.09	5.09	0.68999	5.09	5.09	0.68999	Phox homologous domain (1);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	L	0.60455	1.87	0.35943	D	0.833362	D	0.63880	0.993	D	0.70227	0.968	D	0.84115	0.0403	10	0.72032	D	0.01	-25.1339	15.7875	0.78319	0.0:0.0:1.0:0.0	.	107	Q8WYQ9	ZCH14_HUMAN	Y	107	ENSP00000268616:H107Y	ENSP00000268616:H107Y	H	-	1	0	0	ZCCHC14	86024273	86024273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.594000	0.54008	2.529000	0.85273	0.563000	0.77884	CAC	0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.343	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	0	0	1		2	2		0		0	0	75		75	74	1	1.900000	-6.257671	1	0.470000	NM_015144			4	4		144	140	0		1	0		0		75			0.884889	1.756678e-02		0		6		4	144
SRCIN1	80725	broad.mit.edu	37	17	36709027	36709027	+	Missense_Mutation	SNP	C	C	T	rs376938284	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:36709027C>T	ENST00000264659.7	-	12	2490	c.2266G>A	c.(2266-2268)Ggc>Agc	p.G756S	SRCIN1_ENST00000578925.1_Missense_Mutation_p.G790S|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	628					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGCTCAGGGCCGGGCACCAGC	0.612													C|||	5	0.000998403	0.0	0.0	5008	,	,		16579	0.0		0.0	False		,,,				2504	0.0051					ENST00000264659.7	1.000000	8.600000e-01	1.000000	0.950000	0.990000	0.983537	0.990000	1.000000																										0				19						c.(2266-2268)Ggc>Agc		SRC kinase signaling inhibitor 1		C	SER/GLY	0,4178		0,0,2089	54.0	64.0	61.0		2266	4.8	1.0	17		61	2,8470		0,2,4234	no	missense	SRCIN1	NM_025248.2	56	0,2,6323	TT,TC,CC		0.0236,0.0,0.0158	benign	756/1184	36709027	2,12648	2089	4236	6325	SO:0001583	missense	80725	45	120998	47				g.chr17:36709027C>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2266G>A	chr17.hg19:g.36709027C>T	ENSP00000264659:p.Gly756Ser	0					SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.G790S	p.G756S	NM_025248.2	NP_079524.2	1	2	3	2.096221	Q9C0H9	SRCN1_HUMAN		12	2490	-			Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	0	1	hg19	c.2266G>A	CCDS45660.1	1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929532	0.52759	0.0	2.36E-4	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.50548	0.74	4.85	4.85	0.62838	4.85	4.85	0.62838	.	0.112392	0.64402	D	0.000014	T	0.39462	0.1079	L	0.36672	1.1	0.46416	D	0.999031	P;P;P;P	0.45428	0.858;0.625;0.625;0.625	B;B;B;B	0.38020	0.263;0.128;0.128;0.128	T	0.43861	-0.9365	10	0.56958	D	0.05	-30.4219	17.2494	0.87038	0.0:1.0:0.0:0.0	.	62;628;628;756	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	S	756;537;610	ENSP00000264659:G756S	ENSP00000264659:G756S	G	-	1	0	0	SRCIN1	33962553	33962553	0.651000	0.27340	0.957000	0.39632	0.297000	0.27493	5.445000	0.66594	2.678000	0.91216	0.555000	0.69702	GGC	0.477369		TCGA-FB-AAPQ-01A-11D-A40W-08	0.612	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	0	0	1		2	2		0		0	0	137		137	136	1	1.900000	-3.318794	1	0.470000	NM_025248			87	83		270	263	0		1	0		0		137			1.000000	2.529929e-01		0		4		87	270
COLEC12	81035	broad.mit.edu	37	18	335116	335116	+	Missense_Mutation	SNP	G	G	A	rs565737372		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr18:335116G>A	ENST00000400256.3	-	6	1649	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	481	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCTCTCACCCGCAGGGCCAGG	0.652																																						ENST00000400256.3	0.270000	6.000000e-02	0.200000	0.090000	0.130000	0.156724	0.130000	0.140000																										0				46						c.(1441-1443)gCg>gTg		collectin sub-family member 12							33.0	34.0	34.0					18																	335116		2192	4288	6480	SO:0001583	missense	81035	2	121268	33				g.chr18:335116G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1442C>T	chr18.hg19:g.335116G>A	ENSP00000383115:p.Ala481Val	0						p.A481V	NM_130386.2	NP_569057	1	2	3	2.066966	Q5KU26	COL12_HUMAN		6	1649	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	0	1	hg19	c.1442C>T	CCDS32782.1	0	.	.	.	.	.	.	.	.	.	.	G	3.103	-0.184432	0.06340	.	.	ENSG00000158270	ENST00000400256	T	0.17213	2.29	5.67	3.86	0.44501	5.67	3.86	0.44501	.	0.260619	0.44483	D	0.000456	T	0.09774	0.0240	N	0.20328	0.56	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.17868	-1.0355	10	0.26408	T	0.33	-17.5347	8.4346	0.32780	0.1196:0.0:0.7477:0.1327	.	481	Q5KU26	COL12_HUMAN	V	481	ENSP00000383115:A481V	ENSP00000383115:A481V	A	-	2	0	0	COLEC12	325116	325116	0.000000	0.05858	0.137000	0.22149	0.025000	0.11179	0.946000	0.29069	2.659000	0.90383	0.655000	0.94253	GCG	0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.652	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1	0	0	1		2	2		0		0	0	79		79	79	1	1.900000	-3.025834	1	0.470000				9	9		276	267	0		1	0		0		79			0.993539	7.550262e-03		0		4		9	276
SMAD4	4089	broad.mit.edu	37	18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	rs377767347		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361H(12)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413																																						ENST00000342988.3	1.000000	7.500000e-01	0.980000	0.830000	0.910000	0.912440	0.910000	1.000000																										50	Whole gene deletion(36)|Substitution - Missense(12)|Unknown(2)	p.0?(36)|p.R361H(12)|p.?(2)	pancreas(26)|large_intestine(13)|lung(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|oesophagus(1)	454	GRCh37	CM004254	SMAD4	M		c.(1081-1083)cGc>cAc		SMAD family member 4							167.0	138.0	148.0					18																	48591919		2203	4300	6503	SO:0001583	missense	4089	0	0					g.chr18:48591919G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1082G>A	chr18.hg19:g.48591919G>A	ENSP00000341551:p.Arg361His	1					SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H	p.R361H	NM_005359.5	NP_005350.1	0	1	1	1.599815	Q13485	SMAD4_HUMAN		9	1620	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	Missense_Mutation	SNP	ENST00000342988.3	0	1	hg19	c.1082G>A	CCDS11950.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.477304	0.96291	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98120	-4.73;-4.73	5.86	5.86	0.93980	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	361	Q13485	SMAD4_HUMAN	H	361	ENSP00000341551:R361H;ENSP00000381452:R361H	ENSP00000341551:R361H	R	+	2	0	0	SMAD4	46845917	46845917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.771000	0.95319	0.563000	0.77884	CGC	0.309311		TCGA-FB-AAPQ-01A-11D-A40W-08	0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	0	1		2	2		0		0	0	107		107	105	1	1.900000	-20.000000	1	0.470000	NM_005359			61	60		144	143	0		1	1		0		107			1.000000	9.975555e-01		18		7		61	144
HAUS8	93323	broad.mit.edu	37	19	17173553	17173553	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:17173553T>A	ENST00000253669.5	-	4	374	c.184A>T	c.(184-186)Atg>Ttg	p.M62L	HAUS8_ENST00000593360.1_Start_Codon_SNP_p.M1L|HAUS8_ENST00000448593.2_Missense_Mutation_p.M62L			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	62					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CCTTCAGACATCTTCCCTCGG	0.537																																						ENST00000253669.5	1.000000	1.200000e-01	0.280000	0.160000	0.210000	0.270681	0.210000	0.210000																										0				12						c.(184-186)Atg>Ttg		HAUS augmin-like complex, subunit 8							190.0	151.0	164.0					19																	17173553		2203	4300	6503	SO:0001583	missense	93323	0	0					g.chr19:17173553T>A	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.184A>T	chr19.hg19:g.17173553T>A	ENSP00000253669:p.Met62Leu	0					HAUS8_ENST00000593360.1_Start_Codon_SNP_p.M1L|HAUS8_ENST00000448593.2_Missense_Mutation_p.M62L	p.M62L			1	2	3	2.130903	Q9BT25	HAUS8_HUMAN		4	374	-			B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	0	1	hg19	c.184A>T	CCDS32948.1	0	.	.	.	.	.	.	.	.	.	.	T	2.950	-0.216853	0.06101	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.42513	0.98;0.97	2.45	-2.04	0.07343	2.45	-2.04	0.07343	.	0.866434	0.09993	N	0.729472	T	0.31638	0.0803	L	0.51422	1.61	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.25745	-1.0123	10	0.27785	T	0.31	-2.9844	7.0491	0.25063	0.0:0.5648:0.0:0.4352	.	1;62;62	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	L	62	ENSP00000253669:M62L;ENSP00000395298:M62L	ENSP00000253669:M62L	M	-	1	0	0	HAUS8	17034553	17034553	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.360000	0.07622	-0.611000	0.05709	-0.379000	0.06801	ATG	0.480977		TCGA-FB-AAPQ-01A-11D-A40W-08	0.537	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	0	0	1		2	2		0		0	0	173		173	169	1	1.900000	-19.677420	1	0.470000	NM_001011699			19	19		385	378	0		1	0		0		173			0.999990	2.278999e-02		1		4		19	385
LILRA2	11027	broad.mit.edu	37	19	55086476	55086476	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:55086476G>T	ENST00000251377.3	+	5	764	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	LILRA2_ENST00000251376.3_Missense_Mutation_p.D211Y|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.D211Y|LILRA2_ENST00000391737.1_Missense_Mutation_p.D199Y|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	211	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCTACCCAGTGATCTCCTGGA	0.587																																						ENST00000251377.3	1.000000	9.200000e-01	1.000000	0.980000	0.990000	0.993698	0.990000	1.000000																										0				50						c.(631-633)Gat>Tat		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							138.0	137.0	138.0					19																	55086476		2203	4300	6503	SO:0001583	missense	11027	1	121412	36				g.chr19:55086476G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.631G>T	chr19.hg19:g.55086476G>T	ENSP00000251377:p.Asp211Tyr	1					LILRA2_ENST00000391737.1_Missense_Mutation_p.D199Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.D211Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.D211Y|LILRB1_ENST00000448689.1_Intron	p.D211Y			0	1	1	1.647110	Q8N149	LIRA2_HUMAN		5	764	+			O75020	Missense_Mutation	SNP	ENST00000251377.3	0	1	hg19	c.631G>T	CCDS46179.1	1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971086	0.34754	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.01051	5.4;5.4;5.4;5.4;5.4	2.8	1.75	0.24633	2.8	1.75	0.24633	Immunoglobulin-like fold (1);	1.008970	0.07965	N	0.983077	T	0.08313	0.0207	M	0.93808	3.46	0.09310	N	0.999993	P;D;P;D	0.89917	0.748;0.993;0.808;1.0	B;P;B;D	0.69824	0.246;0.906;0.281;0.966	T	0.18967	-1.0320	9	.	.	.	.	5.0171	0.14343	0.1716:0.0:0.8284:0.0	.	211;199;211;211	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	211;211;211;211;199	ENSP00000388131:D211Y;ENSP00000251377:D211Y;ENSP00000375618:D211Y;ENSP00000251376:D211Y;ENSP00000375617:D199Y	.	D	+	1	0	0	LILRA2	59778288	59778288	0.001000	0.12720	0.059000	0.19551	0.037000	0.13140	0.087000	0.14958	1.570000	0.49709	0.400000	0.26472	GAT	0.323807		TCGA-FB-AAPQ-01A-11D-A40W-08	0.587	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2	0	0	1		2	2		0		0	0	221		221	219	1	1.900000	-20.000000	1	0.470000				138	135		275	271	0		1			0		221			1.000000	0		0		0		138	275
HRNR	388697	broad.mit.edu	37	1	152191773	152191773	+	Missense_Mutation	SNP	G	G	C	rs372266640		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:152191773G>C	ENST00000368801.2	-	3	2407	c.2332C>G	c.(2332-2334)Cgt>Ggt	p.R778G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	778					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCGGACACGGCTAGGAGAG	0.592																																						ENST00000368801.2	0.170000	3.000000e-02	0.130000	0.050000	0.080000	0.093993	0.080000	0.090000																										0				192						c.(2332-2334)Cgt>Ggt		hornerin							75.0	78.0	77.0					1																	152191773		2203	4300	6503	SO:0001583	missense	388697	5	121412	43				g.chr1:152191773G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2332C>G	chr1.hg19:g.152191773G>C	ENSP00000357791:p.Arg778Gly	1					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R778G	NM_001009931.1	NP_001009931.1	1	2	3	2.507023	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	3	2407	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	0	1	hg19	c.2332C>G	CCDS30859.1	0	.	.	.	.	.	.	.	.	.	.	-	5.505	0.278141	0.10403	.	.	ENSG00000197915	ENST00000368801	T	0.03801	3.8	3.06	0.0247	0.14143	3.06	0.0247	0.14143	.	.	.	.	.	T	0.00754	0.0025	N	0.19112	0.55	0.09310	N	1	B	0.27013	0.166	B	0.17722	0.019	T	0.47182	-0.9137	9	0.14252	T	0.57	.	5.1534	0.15021	0.627:0.0:0.373:0.0	.	778	Q86YZ3	HORN_HUMAN	G	778	ENSP00000357791:R778G	ENSP00000357791:R778G	R	-	1	0	0	HRNR	150458397	150458397	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.096000	0.03353	-0.095000	0.12351	0.508000	0.49915	CGT	0.570032		TCGA-FB-AAPQ-01A-11D-A40W-08	0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	0	0	1		2	2		0		0	0	157		157	154	1	1.900000	-3.300063	1	0.470000	XM_373868			7	7		437	422	0		1			0		157			0.978272	0		0		0		7	437
FCRL1	115350	broad.mit.edu	37	1	157769869	157769869	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:157769869C>T	ENST00000368176.3	-	7	1077	c.1010G>A	c.(1009-1011)cGt>cAt	p.R337H	FCRL1_ENST00000491942.1_Missense_Mutation_p.R337H|FCRL1_ENST00000358292.3_Missense_Mutation_p.R298H|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	337						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTGGCTGAACGTCTTCCTGA	0.408																																					GBM(54;482 1003 11223 30131 35730)	ENST00000368176.3	0.280000	6.000000e-02	0.210000	0.090000	0.140000	0.159669	0.140000	0.150000																										0				42						c.(1009-1011)cGt>cAt		Fc receptor-like 1							100.0	90.0	93.0					1																	157769869		2203	4300	6503	SO:0001583	missense	115350	0	0					g.chr1:157769869C>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1010G>A	chr1.hg19:g.157769869C>T	ENSP00000357158:p.Arg337His	1					FCRL1_ENST00000491942.1_Missense_Mutation_p.R337H|FCRL1_ENST00000358292.3_Missense_Mutation_p.R298H|FCRL1_ENST00000489998.1_5'UTR	p.R337H	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	1	4	5	3.454336	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)	7	1077	-	all_hematologic(112;0.0378)		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	0	1	hg19	c.1010G>A	CCDS1170.1	0	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436657	0.25900	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.46451	0.87;1.06;1.09	5.03	-0.412	0.12367	5.03	-0.412	0.12367	.	1.215290	0.05705	N	0.594801	T	0.11623	0.0283	L	0.45581	1.43	0.09310	N	1	B;B;B	0.33739	0.105;0.422;0.064	B;B;B	0.25506	0.027;0.061;0.012	T	0.22068	-1.0227	10	0.45353	T	0.12	.	0.9423	0.01358	0.162:0.4013:0.1578:0.279	.	298;337;337	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	H	298;337;337	ENSP00000351039:R298H;ENSP00000357158:R337H;ENSP00000418130:R337H	ENSP00000351039:R298H	R	-	2	0	0	FCRL1	156036493	156036493	0.001000	0.12720	0.029000	0.17559	0.036000	0.12997	-0.669000	0.05262	-0.134000	0.11516	-0.136000	0.14681	CGT	0.687859		TCGA-FB-AAPQ-01A-11D-A40W-08	0.408	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	0	0	1		2	2		0		0	0	90		90	88	1	1.900000	-7.504347	1	0.470000	NM_052938			8	8		397	396	0		1			0		90			0.989422	0		0		0		8	397
SPTA1	6708	broad.mit.edu	37	1	158653248	158653248	+	Silent	SNP	C	C	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:158653248C>A	ENST00000368147.4	-	3	483	c.303G>T	c.(301-303)gtG>gtT	p.V101V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	101					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTTTGTTTGCACCTCTGCTT	0.398																																						ENST00000368147.4	0.140000	0	0.110000	0.030000	0.060000	0.070296	0.060000	0.050000																										0				307						c.(301-303)gtG>gtT		spectrin, alpha, erythrocytic 1							226.0	200.0	208.0					1																	158653248		1856	4106	5962	SO:0001819	synonymous_variant	6708	0	0					g.chr1:158653248C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.303G>T	chr1.hg19:g.158653248C>A		1						p.V101V	NM_003126.2	NP_003117.2	1	4	5	3.454336	P02549	SPTA1_HUMAN		3	483	-	all_hematologic(112;0.0378)		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	0	1	hg19	c.303G>T	CCDS41423.1	0																																																																																								0.687859		TCGA-FB-AAPQ-01A-11D-A40W-08	0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	0	1		15	2		1		1	1	170		170	169	1	1.900000	-2.914627	1	0.470000	NM_003126			6	6		683	678	0		0			1		170			0.036413	0		0		0		6	683
DEDD	9191	broad.mit.edu	37	1	161092295	161092295	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:161092295C>T	ENST00000368006.3	-	6	813	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	DEDD_ENST00000490843.2_Missense_Mutation_p.R200Q|DEDD_ENST00000392188.1_Missense_Mutation_p.R230Q|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000458050.2_Missense_Mutation_p.R200Q|DEDD_ENST00000368005.1_Missense_Mutation_p.R230Q|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000545495.1_Missense_Mutation_p.R200Q	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	200					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)	p.R200L(1)		cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTATTCAGCCCGAACCCGCAG	0.493																																						ENST00000368006.3	0.910000	5.400000e-01	0.810000	0.620000	0.710000	0.719348	0.710000	0.700000																										1	Substitution - Missense(1)	p.R200L(1)	lung(1)	10						c.(598-600)cGg>cAg		death effector domain containing							77.0	83.0	81.0					1																	161092295		2203	4300	6503	SO:0001583	missense	9191	1	121412	28				g.chr1:161092295C>T	AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.599G>A	chr1.hg19:g.161092295C>T	ENSP00000356985:p.Arg200Gln	1					NIT1_ENST00000368008.1_Intron|DEDD_ENST00000545495.1_Missense_Mutation_p.R200Q|DEDD_ENST00000368005.1_Missense_Mutation_p.R230Q|DEDD_ENST00000458050.2_Missense_Mutation_p.R200Q|DEDD_ENST00000392188.1_Missense_Mutation_p.R230Q|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000490843.2_Missense_Mutation_p.R200Q	p.R200Q	NM_032998.2	NP_127491.1	1	4	5	3.454336	O75618	DEDD_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)	6	813	-	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		D3DVF5|O60737	Missense_Mutation	SNP	ENST00000368006.3	0	1	hg19	c.599G>A	CCDS1219.1	0	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662293	0.88251	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.03	5.03	0.67393	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.80764	0.694;0.994;0.982	T	0.74386	-0.3682	9	0.59425	D	0.04	.	15.9207	0.79570	0.0:1.0:0.0:0.0	.	157;230;200	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	Q	200;230;200;200;200;230;157	.	ENSP00000356984:R230Q	R	-	2	0	0	DEDD	159358919	159358919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.620000	0.88729	0.655000	0.94253	CGG	0.687859		TCGA-FB-AAPQ-01A-11D-A40W-08	0.493	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	0	0	1		2	2		0		0	0	97		97	94	1	1.900000	-2.578431	1	0.470000	NM_004216			56	55		514	507	0		1	1		0		97			1.000000	9.999841e-01		27		120		56	514
FCER1G	2207	broad.mit.edu	37	1	161187859	161187859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:161187859C>T	ENST00000289902.1	+	2	158	c.133C>T	c.(133-135)Cga>Tga	p.R45*	FCER1G_ENST00000367992.3_Nonsense_Mutation_p.R45*|FCER1G_ENST00000490414.1_Intron|AL590714.1_ENST00000594609.1_5'Flank	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	45					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|negative regulation of mast cell apoptotic process (GO:0033026)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|phagocytosis, engulfment (GO:0006911)|platelet activation (GO:0030168)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I hypersensitivity (GO:0001812)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|protein localization to plasma membrane (GO:0072659)|regulation of platelet activation (GO:0010543)|serotonin secretion by platelet (GO:0002554)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	CCTCTACTGTCGACTGAAGGT	0.562																																						ENST00000289902.1	1.000000	7.600000e-01	1.000000	0.830000	0.910000	0.915971	0.910000	1.000000																										0				6						c.(133-135)Cga>Tga		Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	Benzylpenicilloyl Polylysine(DB00895)						145.0	133.0	137.0					1																	161187859		2203	4300	6503	SO:0001587	stop_gained	2207	2	121412	38				g.chr1:161187859C>T		CCDS1225.1	1q23	2008-02-05			ENSG00000158869	ENSG00000158869			3611	protein-coding gene	gene with protein product		147139				2138619	Standard	NM_004106		Approved		uc001fyz.1	P30273	OTTHUMG00000034343	ENST00000289902.1:c.133C>T	chr1.hg19:g.161187859C>T	ENSP00000289902:p.Arg45*	1					FCER1G_ENST00000490414.1_Intron|FCER1G_ENST00000367992.3_Nonsense_Mutation_p.R45*|AL590714.1_ENST00000594609.1_5'Flank	p.R45*	NM_004106.1	NP_004097.1	1	4	5	3.454336	P30273	FCERG_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)	2	158	+	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		Q5VTW4	Nonsense_Mutation	SNP	ENST00000289902.1	0	1	hg19	c.133C>T	CCDS1225.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797467	0.90538	.	.	ENSG00000158869	ENST00000367992;ENST00000289902	.	.	.	5.67	4.73	0.59995	5.67	4.73	0.59995	.	0.000000	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7665	0.51933	0.1759:0.8241:0.0:0.0	.	.	.	.	X	45	.	ENSP00000289902:R45X	R	+	1	2	2	FCER1G	159454483	159454483	0.983000	0.35010	1.000000	0.80357	0.992000	0.81027	1.508000	0.35769	1.348000	0.45733	0.561000	0.74099	CGA	0.687859		TCGA-FB-AAPQ-01A-11D-A40W-08	0.562	FCER1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083012.1	0	0	1		2	2		0		0	0	173		173	170	1	1.900000	-20.000000	1	0.470000	NM_004106			117	115		803	786	0		1	0		0		173			1.000000	9.998355e-01		0		86		117	803
CFHR5	81494	broad.mit.edu	37	1	196952162	196952162	+	Missense_Mutation	SNP	G	G	A	rs375843181		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:196952162G>A	ENST00000256785.4	+	2	315	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR5_ENST00000367414.5_Missense_Mutation_p.R93H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.R69H(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTTGGACTCGCATAACATGC	0.393																																						ENST00000256785.4	0.120000	1.000000e-02	0.090000	0.030000	0.050000	0.062064	0.050000	0.060000																										1	Substitution - Missense(1)	p.R69H(1)	prostate(1)	49						c.(205-207)cGc>cAc		complement factor H-related 5		G	HIS/ARG	1,4405		0,1,2202	117.0	105.0	109.0		206	-4.1	0.0	1		109	0,8600		0,0,4300	no	missense	CFHR5	NM_030787.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	69/570	196952162	1,13005	2203	4300	6503	SO:0001583	missense	81494	6	121410	41				g.chr1:196952162G>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.206G>A	chr1.hg19:g.196952162G>A	ENSP00000256785:p.Arg69His	0					CFHR5_ENST00000367414.5_Missense_Mutation_p.R93H	p.R69H			1	2	3	2.062215	Q9BXR6	FHR5_HUMAN		2	315	+			Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	0	1	hg19	c.206G>A	CCDS1387.1	0	.	.	.	.	.	.	.	.	.	.	.	11.96	1.794607	0.31777	2.27E-4	0.0	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.64803	-0.12;-0.12	2.45	-4.13	0.03904	2.45	-4.13	0.03904	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.45296	0.1335	L	0.46157	1.445	0.09310	N	1	B	0.25521	0.128	B	0.20955	0.032	T	0.24728	-1.0152	9	0.31617	T	0.26	.	4.0223	0.09672	0.3876:0.3452:0.2672:0.0	.	69	Q9BXR6	FHR5_HUMAN	H	93;69	ENSP00000356384:R93H;ENSP00000256785:R69H	ENSP00000256785:R69H	R	+	2	0	0	CFHR5	195218785	195218785	0.000000	0.05858	0.002000	0.10522	0.603000	0.37013	-2.581000	0.00906	-1.048000	0.03238	0.305000	0.20034	CGC	0.471243		TCGA-FB-AAPQ-01A-11D-A40W-08	0.393	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	0	0	1		2	2		0		0	0	200		200	197	1	1.900000	-2.234064	0	0.470000	NM_030787			5	5		404	402	0		1			0		200			0.937098	0		0		0		5	404
PROX1	5629	broad.mit.edu	37	1	214171246	214171246	+	Silent	SNP	C	C	T	rs530123487		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:214171246C>T	ENST00000366958.4	+	2	1976	c.1368C>T	c.(1366-1368)gcC>gcT	p.A456A	PROX1_ENST00000261454.4_Silent_p.A456A|PROX1_ENST00000435016.1_Silent_p.A456A|PROX1_ENST00000498508.2_Silent_p.A456A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	456				PAA -> LV (in Ref. 1; AAC50656). {ECO:0000305}.	aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCGGCCCTGCCGCTGGCGGCC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15771	0.0		0.0	False		,,,				2504	0.0					ENST00000366958.4	0.110000	0	0.080000	0.020000	0.040000	0.053996	0.040000	0.040000																										0				47						c.(1366-1368)gcC>gcT		prospero homeobox 1							60.0	73.0	68.0					1																	214171246		2203	4300	6503	SO:0001819	synonymous_variant	5629	0	0					g.chr1:214171246C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1368C>T	chr1.hg19:g.214171246C>T		0					PROX1_ENST00000261454.4_Silent_p.A456A|PROX1_ENST00000435016.1_Silent_p.A456A|PROX1_ENST00000498508.2_Silent_p.A456A	p.A456A	NM_001270616.1	NP_001257545.1	1	2	3	2.062215	Q92786	PROX1_HUMAN		2	1976	+			A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	0	1	hg19	c.1368C>T	CCDS31021.1	0																																																																																								0.471243		TCGA-FB-AAPQ-01A-11D-A40W-08	0.642	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	0	0	1		2	2		0		0	0	128		128	126	1	1.900000	-2.768843	1	0.470000	NM_002763			5	5		465	437	0		1	0		0		128			0.926781	2.686419e-03		0		6		5	465
CHML	1122	broad.mit.edu	37	1	241798099	241798099	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:241798099C>T	ENST00000366553.1	-	1	1133	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	324					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTTAAGTATTCTGAAAATGAA	0.343																																						ENST00000366553.1	0.260000	9.000000e-02	0.210000	0.120000	0.160000	0.170557	0.160000	0.160000																										0				26						c.(970-972)Gaa>Aaa		choroideremia-like (Rab escort protein 2)							110.0	113.0	112.0					1																	241798099		2203	4299	6502	SO:0001583	missense	1122	0	0					g.chr1:241798099C>T	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.970G>A	chr1.hg19:g.241798099C>T	ENSP00000355511:p.Glu324Lys	0					OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	p.E324K	NM_001821.3	NP_001812.2	1	2	3	2.062215	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)	1	1133	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	0	1	hg19	c.970G>A	CCDS31073.1	0	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363993	0.61513	.	.	ENSG00000203668	ENST00000366553	T	0.61510	0.1	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.286583	0.37012	N	0.002299	T	0.63873	0.2548	.	.	.	0.48288	D	0.999624	P	0.35923	0.528	P	0.45099	0.469	T	0.66862	-0.5816	9	0.66056	D	0.02	-7.2311	16.126	0.81395	0.0:1.0:0.0:0.0	.	324	P26374	RAE2_HUMAN	K	324	ENSP00000355511:E324K	ENSP00000355511:E324K	E	-	1	0	0	CHML	239864722	239864722	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.515000	0.53429	2.752000	0.94435	0.655000	0.94253	GAA	0.471243		TCGA-FB-AAPQ-01A-11D-A40W-08	0.343	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	0	0	1		2	2		0		0	0	163		163	162	1	1.900000	-3.495506	1	0.470000	NM_001821			15	15		382	378	0		1	1		0		163			0.999865	4.935423e-03		2		1		15	382
BMP7	655	broad.mit.edu	37	20	55758862	55758862	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr20:55758862G>A	ENST00000395863.3	-	4	1379	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	BMP7_ENST00000450594.2_Missense_Mutation_p.R292W|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	292					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCCGTGGACCGGATGCTGCGG	0.637																																						ENST00000395863.3	1.000000	9.900000e-01	1.000000	0.990000	0.990000	0.999532	0.990000	1.000000																										0				20						c.(874-876)Cgg>Tgg		bone morphogenetic protein 7							75.0	66.0	69.0					20																	55758862		2203	4300	6503	SO:0001583	missense	655	0	0					g.chr20:55758862G>A		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.874C>T	chr20.hg19:g.55758862G>A	ENSP00000379204:p.Arg292Trp	0					BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Missense_Mutation_p.R292W|BMP7_ENST00000460817.1_5'UTR	p.R292W	NM_001719.2	NP_001710.1	1	2	3	2.138800	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)	4	1379	-	all_lung(29;0.0133)|Melanoma(10;0.242)		Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	0	1	hg19	c.874C>T	CCDS13455.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.954563|4.954563	0.92726|0.92726	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000433911|ENST00000395863;ENST00000450594	.|T;D	.|0.83075	.|-1.19;-1.68	5.48|5.48	4.52|4.52	0.55395|0.55395	5.48|5.48	4.52|4.52	0.55395|0.55395	.|.	.|0.049998	.|0.85682	.|D	.|0.000000	D|D	0.89083|0.89083	0.6614|0.6614	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.985;1.0	D|D	0.90219|0.90219	0.4270|0.4270	5|10	.|0.87932	.|D	.|0	.|.	16.2622|16.2622	0.82552|0.82552	0.0:0.1329:0.8671:0.0|0.0:0.1329:0.8671:0.0	.|.	.|292;292	.|P18075;B1AL00	.|BMP7_HUMAN;.	L|W	213|292	.|ENSP00000379204:R292W;ENSP00000398687:R292W	.|ENSP00000379204:R292W	P|R	-|-	2|1	0|2	0|2	BMP7|BMP7	55192269|55192269	55192269|55192269	1.000000|1.000000	0.71417|0.71417	0.770000|0.770000	0.31555|0.31555	0.984000|0.984000	0.73092|0.73092	9.580000|9.580000	0.98207|0.98207	1.271000|1.271000	0.44313|0.44313	0.643000|0.643000	0.83706|0.83706	CCG|CGG	0.482169		TCGA-FB-AAPQ-01A-11D-A40W-08	0.637	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2	0	0	1		13	2		1		1	1	120		120	117	1	1.900000	-6.483964	1	0.470000				109	107		286	279	0		1	0		1		120			1.000000	0		0		1		109	286
INPP5J	27124	broad.mit.edu	37	22	31523352	31523352	+	Missense_Mutation	SNP	G	G	A	rs540212879		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr22:31523352G>A	ENST00000331075.5	+	6	1670	c.1621G>A	c.(1621-1623)Ggt>Agt	p.G541S	INPP5J_ENST00000405300.1_Missense_Mutation_p.G174S|INPP5J_ENST00000404390.3_Missense_Mutation_p.G173S|INPP5J_ENST00000400294.2_Missense_Mutation_p.G174S|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000412277.2_Missense_Mutation_p.G474S	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	541	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GGGTAACAAGGGTGGCGTGAG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		14837	0.0		0.0	False		,,,				2504	0.001					ENST00000331075.5	1.000000	5.800000e-01	1.000000	0.730000	0.910000	0.883317	0.910000	1.000000																										0				12						c.(1621-1623)Ggt>Agt		inositol polyphosphate-5-phosphatase J							33.0	35.0	34.0					22																	31523352		2139	4241	6380	SO:0001583	missense	27124	0	0					g.chr22:31523352G>A	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1621G>A	chr22.hg19:g.31523352G>A	ENSP00000333262:p.Gly541Ser	0					INPP5J_ENST00000405300.1_Missense_Mutation_p.G174S|INPP5J_ENST00000400294.2_Missense_Mutation_p.G174S|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000412277.2_Missense_Mutation_p.G474S|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000404390.3_Missense_Mutation_p.G173S|INPP5J_ENST00000402238.1_5'Flank	p.G541S	NM_001284285.1	NP_001271214.1	1	2	3	2.100040	Q15735	PI5PA_HUMAN		6	1670	+			B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	0	1	hg19	c.1621G>A		1	.	.	.	.	.	.	.	.	.	.	G	35	5.565391	0.96527	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390	D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17	4.37	4.37	0.52481	4.37	4.37	0.52481	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99744	1.1016	10	0.87932	D	0	.	17.8398	0.88712	0.0:0.0:1.0:0.0	.	541;173	Q15735;Q15735-3	PI5PA_HUMAN;.	S	541;474;174;174;173	ENSP00000333262:G541S;ENSP00000392924:G474S;ENSP00000383150:G174S;ENSP00000384596:G174S;ENSP00000384534:G173S	ENSP00000333262:G541S	G	+	1	0	0	INPP5J	29853352	29853352	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.453000	0.97619	2.363000	0.80096	0.655000	0.94253	GGT	0.477369		TCGA-FB-AAPQ-01A-11D-A40W-08	0.637	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	0	0	1		2	2		0		0	0	19		19	19	1	1.900000	-20.000000	1	0.470000	NM_001002837			19	17		72	72	0		1	1		0		19			0.999995	4.804393e-02		2		0		19	72
REV1	51455	broad.mit.edu	37	2	100027216	100027216	+	Silent	SNP	A	A	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:100027216A>C	ENST00000258428.3	-	14	2514	c.2286T>G	c.(2284-2286)ccT>ccG	p.P762P	REV1_ENST00000393445.3_Silent_p.P761P|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	762					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGGAGCCCCAGGCTTTCGTA	0.398								Direct reversal of damage																														ENST00000258428.3	1.000000	7.100000e-01	0.950000	0.780000	0.860000	0.867952	0.860000	1.000000																										0				39						c.(2284-2286)ccT>ccG	Direct reversal of damage	REV1, polymerase (DNA directed)							123.0	116.0	119.0					2																	100027216		2203	4300	6503	SO:0001819	synonymous_variant	51455	0	0					g.chr2:100027216A>C	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2286T>G	chr2.hg19:g.100027216A>C		0					REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.P761P	p.P762P	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	1	2	3	2.061050	Q9UBZ9	REV1_HUMAN		14	2514	-			O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	0	1	hg19	c.2286T>G	CCDS2045.1	1																																																																																								0.471243		TCGA-FB-AAPQ-01A-11D-A40W-08	0.398	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	0	0	1		2	2		0		0	0	194		194	191	1	1.900000	-20.000000	1	0.470000	NM_016316			103	102		404	400	0		1	1		0		194			1.000000	9.198008e-01		9		10		103	404
SNTG2	54221	broad.mit.edu	37	2	1243542	1243542	+	Silent	SNP	C	C	T	rs375891281		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:1243542C>T	ENST00000308624.5	+	11	1011	c.882C>T	c.(880-882)tcC>tcT	p.S294S	SNTG2_ENST00000407292.1_Silent_p.S167S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	294					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTCTCCTTCCGACCAGGTAG	0.473																																						ENST00000308624.5	1.000000	7.400000e-01	0.990000	0.850000	0.930000	0.923341	0.930000	0.990000																										0				52						c.(880-882)tcC>tcT		syntrophin, gamma 2		C		0,4178		0,0,2089	170.0	161.0	164.0		882	-2.3	0.5	2		164	1,8449		0,1,4224	no	coding-synonymous	SNTG2	NM_018968.3		0,1,6313	TT,TC,CC		0.0118,0.0,0.0079		294/540	1243542	1,12627	2089	4225	6314	SO:0001819	synonymous_variant	54221	5	121014	38				g.chr2:1243542C>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.882C>T	chr2.hg19:g.1243542C>T		1					SNTG2_ENST00000407292.1_Silent_p.S167S	p.S294S	NM_018968.3	NP_061841.2	0	1	1	1.576691	Q9NY99	SNTG2_HUMAN		11	1011	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	Q05AH5	Silent	SNP	ENST00000308624.5	0	1	hg19	c.882C>T	CCDS46220.1	1																																																																																								0.307190		TCGA-FB-AAPQ-01A-11D-A40W-08	0.473	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	0	0	1		2	2		0		0	0	31		31	31	1	1.900000	-6.637137	1	0.470000	NM_018968			27	26		44	43	0		1	0		0		31			1.000000	0		0		1		27	44
IL18RAP	8807	broad.mit.edu	37	2	103068312	103068312	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:103068312A>G	ENST00000264260.2	+	12	2060	c.1471A>G	c.(1471-1473)Atc>Gtc	p.I491V	IL18RAP_ENST00000409369.1_Missense_Mutation_p.I349V	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	491	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGGACCCAGTATCTTTGAACT	0.383																																						ENST00000264260.2	0.290000	1.100000e-01	0.240000	0.150000	0.190000	0.198789	0.190000	0.190000																										0				37						c.(1471-1473)Atc>Gtc		interleukin 18 receptor accessory protein							132.0	134.0	133.0					2																	103068312		2203	4300	6503	SO:0001583	missense	8807	0	0					g.chr2:103068312A>G	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1471A>G	chr2.hg19:g.103068312A>G	ENSP00000264260:p.Ile491Val	0					IL18RAP_ENST00000409369.1_Missense_Mutation_p.I349V	p.I491V	NM_003853.2	NP_003844.1	1	2	3	2.061050	O95256	I18RA_HUMAN		12	2060	+			B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	0	1	hg19	c.1471A>G	CCDS2061.1	0	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.864991	0.00547	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.07800	3.16;3.16	6.02	-7.56	0.01322	6.02	-7.56	0.01322	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.966608	0.08561	N	0.927536	T	0.03871	0.0109	N	0.13352	0.335	0.09310	N	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.46978	-0.9152	10	0.13470	T	0.59	.	10.3177	0.43747	0.5517:0.241:0.2073:0.0	.	491	O95256	I18RA_HUMAN	V	491;349	ENSP00000264260:I491V;ENSP00000387201:I349V	ENSP00000264260:I491V	I	+	1	0	0	IL18RAP	102434744	102434744	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	-0.198000	0.09505	-1.839000	0.01186	-0.917000	0.02746	ATC	0.471243		TCGA-FB-AAPQ-01A-11D-A40W-08	0.383	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	0	0	1		2	2		0		0	0	198		198	198	1	1.900000	-19.530980	1	0.470000	NM_003853			19	19		407	404	0		1			0		198			0.999991	0		0		0		19	407
ZNF804A	91752	broad.mit.edu	37	2	185802417	185802417	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:185802417C>T	ENST00000302277.6	+	4	2888	c.2294C>T	c.(2293-2295)tCa>tTa	p.S765L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	765							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATGAATGAATCAGAAAGATTC	0.338																																						ENST00000302277.6	1.000000	6.500000e-01	0.920000	0.730000	0.820000	0.831741	0.820000	0.830000																										0				146						c.(2293-2295)tCa>tTa		zinc finger protein 804A							54.0	56.0	55.0					2																	185802417		2203	4299	6502	SO:0001583	missense	91752	0	0					g.chr2:185802417C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2294C>T	chr2.hg19:g.185802417C>T	ENSP00000303252:p.Ser765Leu	0						p.S765L	NM_194250.1	NP_919226.1	0	0	0	1.976499	Q7Z570	Z804A_HUMAN		4	2888	+			A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	0	1	hg19	c.2294C>T	CCDS2291.1	0	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022703	0.54683	.	.	ENSG00000170396	ENST00000302277	T	0.05925	3.37	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.288957	0.24764	N	0.035786	T	0.09730	0.0239	L	0.47716	1.5	0.35829	D	0.825133	P	0.35077	0.483	B	0.33392	0.163	T	0.06881	-1.0802	10	0.87932	D	0	-6.925	19.1378	0.93435	0.0:1.0:0.0:0.0	.	765	Q7Z570	Z804A_HUMAN	L	765	ENSP00000303252:S765L	ENSP00000303252:S765L	S	+	2	0	0	ZNF804A	185510662	185510662	0.129000	0.22400	0.694000	0.30210	0.985000	0.73830	2.805000	0.47939	2.755000	0.94549	0.655000	0.94253	TCA	0.449293		TCGA-FB-AAPQ-01A-11D-A40W-08	0.338	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	0	0	0		2	2		0		0	0	134		134	134	1	1.900000	-20.000000	1	0.470000	NM_194250			67	67		264	263	0		1			0		134			1.000000	0		0		0		67	264
EPHA4	2043	broad.mit.edu	37	2	222301271	222301271	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:222301271A>G	ENST00000281821.2	-	13	2235	c.2194T>C	c.(2194-2196)Tct>Cct	p.S732P	EPHA4_ENST00000409854.1_Missense_Mutation_p.S732P|EPHA4_ENST00000409938.1_Missense_Mutation_p.S732P|EPHA4_ENST00000392071.4_Missense_Mutation_p.S681P	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	732	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTCATCCCAGACCCAATGCCA	0.453																																						ENST00000281821.2	1.000000	6.300000e-01	1.000000	0.710000	0.800000	0.823035	0.800000	0.780000																										0				49						c.(2194-2196)Tct>Cct		EPH receptor A4							139.0	124.0	129.0					2																	222301271		2203	4300	6503	SO:0001583	missense	2043	0	0					g.chr2:222301271A>G	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2194T>C	chr2.hg19:g.222301271A>G	ENSP00000281821:p.Ser732Pro	1					EPHA4_ENST00000409938.1_Missense_Mutation_p.S732P|EPHA4_ENST00000392071.4_Missense_Mutation_p.S681P|EPHA4_ENST00000409854.1_Missense_Mutation_p.S732P	p.S732P	NM_004438.3	NP_004429.1	1	2	3	2.373236	P54764	EPHA4_HUMAN		13	2235	-		Renal(207;0.0183)	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	0	1	hg19	c.2194T>C	CCDS2447.1	0	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874684	0.72180	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.98	5.98	0.97165	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.94191	0.7441	10	0.87932	D	0	.	16.4684	0.84092	1.0:0.0:0.0:0.0	.	732	P54764	EPHA4_HUMAN	P	732;732;732;681	ENSP00000281821:S732P;ENSP00000386276:S732P;ENSP00000386829:S732P;ENSP00000375923:S681P	ENSP00000281821:S732P	S	-	1	0	0	EPHA4	222009515	222009515	1.000000	0.71417	0.981000	0.43875	0.915000	0.54546	7.306000	0.78905	2.289000	0.77006	0.460000	0.39030	TCT	0.552988		TCGA-FB-AAPQ-01A-11D-A40W-08	0.453	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3	0	0	1		2	2		0		0	0	172		172	168	1	1.900000	-20.000000	1	0.470000				79	77		429	423	0		1	1		0		172			1.000000	2.486474e-02		2		0		79	429
PROKR1	10887	broad.mit.edu	37	2	68882679	68882679	+	Missense_Mutation	SNP	G	G	A	rs139618486		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:68882679G>A	ENST00000303786.3	+	3	1573	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	PROKR1_ENST00000394342.2_Missense_Mutation_p.E385K			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	385					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTGCCACCGAAGAGGTGGA	0.488																																						ENST00000303786.3	1.000000	9.900000e-01	1.000000	0.990000	0.990000	0.999178	0.990000	1.000000																										0				35						c.(1153-1155)Gaa>Aaa		prokineticin receptor 1		G	LYS/GLU	0,4406		0,0,2203	53.0	53.0	53.0		1153	4.5	1.0	2	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense	PROKR1	NM_138964.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	385/394	68882679	1,13005	2203	4300	6503	SO:0001583	missense	10887	0	0					g.chr2:68882679G>A	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.1153G>A	chr2.hg19:g.68882679G>A	ENSP00000303775:p.Glu385Lys	0					PROKR1_ENST00000394342.2_Missense_Mutation_p.E385K	p.E385K			1	2	3	2.061050	Q8TCW9	PKR1_HUMAN		3	1573	+			A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	0	1	hg19	c.1153G>A	CCDS1889.1	1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734748	0.69189	0.0	1.16E-4	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.72835	-0.69;-0.69	4.48	4.48	0.54585	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.68765	0.96	T	0.72972	-0.4129	10	0.18276	T	0.48	.	15.4772	0.75493	0.0:0.0:1.0:0.0	.	385	Q8TCW9	PKR1_HUMAN	K	385	ENSP00000303775:E385K;ENSP00000377874:E385K	ENSP00000303775:E385K	E	+	1	0	0	PROKR1	68736183	68736183	1.000000	0.71417	0.963000	0.40424	0.364000	0.29643	8.626000	0.90969	2.779000	0.95612	0.655000	0.94253	GAA	0.471243		TCGA-FB-AAPQ-01A-11D-A40W-08	0.488	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2	0	0	1		2	2		0		0	0	68		68	68	1	1.900000	-6.677265	1	0.470000				55	54		127	125	0		1			0		68			1.000000	0		0		0		55	127
NEU4	129807	broad.mit.edu	37	2	242757458	242757458	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:242757458G>A	ENST00000391969.2	+	5	1250	c.539G>A	c.(538-540)cGc>cAc	p.R180H	NEU4_ENST00000325935.6_Missense_Mutation_p.R193H|NEU4_ENST00000407683.1_Missense_Mutation_p.R180H|NEU4_ENST00000404257.1_Missense_Mutation_p.R192H|NEU4_ENST00000405370.1_Missense_Mutation_p.R180H	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	180					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TACACCTACCGCGTGGACCGC	0.677																																						ENST00000391969.2	1.000000	7.100000e-01	1.000000	0.870000	0.990000	0.953724	0.990000	1.000000																										0				15						c.(538-540)cGc>cAc		sialidase 4							68.0	46.0	54.0					2																	242757458		2197	4299	6496	SO:0001583	missense	129807	0	0					g.chr2:242757458G>A	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.539G>A	chr2.hg19:g.242757458G>A	ENSP00000375830:p.Arg180His	1					NEU4_ENST00000405370.1_Missense_Mutation_p.R180H|NEU4_ENST00000407683.1_Missense_Mutation_p.R180H|NEU4_ENST00000325935.6_Missense_Mutation_p.R193H|NEU4_ENST00000404257.1_Missense_Mutation_p.R192H	p.R180H	NM_001167602.1	NP_001161074.1	1	2	3	2.425160	Q8WWR8	NEUR4_HUMAN		5	1250	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	0	1	hg19	c.539G>A	CCDS54442.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.676|5.676	0.309365|0.309365	0.10733|0.10733	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000415936;ENST00000426032|ENST00000407683;ENST00000405370;ENST00000472793;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000420288	T;T|D;D;D;D;D;D;D	0.36340|0.84516	1.26;1.27|-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	4.47|4.47	-3.37|-3.37	0.04898|0.04898	4.47|4.47	-3.37|-3.37	0.04898|0.04898	.|Neuraminidase (2);	.|0.278834	.|0.39020	.|N	.|0.001484	T|T	0.61160|0.61160	0.2325|0.2325	N|N	0.03209|0.03209	-0.39|-0.39	0.24176|0.24176	N|N	0.9956|0.9956	.|B;B;B	.|0.11235	.|0.004;0.004;0.004	.|B;B;B	.|0.11329	.|0.001;0.001;0.006	T|T	0.52909|0.52909	-0.8512|-0.8512	7|10	0.22706|0.11182	T|T	0.39|0.66	-5.5641|-5.5641	11.8952|11.8952	0.52652|0.52652	0.8204:0.0:0.1796:0.0|0.8204:0.0:0.1796:0.0	.|.	.|192;192;180	.|A8K211;Q8WWR8-2;Q8WWR8	.|.;.;NEUR4_HUMAN	T|H	95;107|180;180;190;180;192;180;193;180	ENSP00000397167:A95T;ENSP00000406678:A107T|ENSP00000385402:R180H;ENSP00000384804:R180H;ENSP00000397860:R180H;ENSP00000385149:R192H;ENSP00000375830:R180H;ENSP00000320318:R193H;ENSP00000388707:R180H	ENSP00000397167:A95T|ENSP00000320318:R193H	A|R	+|+	1|2	0|0	0|0	NEU4|NEU4	242406131|242406131	242406131|242406131	0.764000|0.764000	0.28473|0.28473	0.501000|0.501000	0.27601|0.27601	0.978000|0.978000	0.69477|0.69477	0.875000|0.875000	0.28079|0.28079	-0.569000|-0.569000	0.06030|0.06030	0.443000|0.443000	0.29094|0.29094	GCG|CGC	0.562526		TCGA-FB-AAPQ-01A-11D-A40W-08	0.677	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	0	0	1		2	2		0		0	0	34		34	34	1	1.900000	-20.000000	1	0.470000	NM_080741			25	25		100	96	0		1			0		34			1.000000	0		0		0		25	100
DOCK3	1795	broad.mit.edu	37	3	51418535	51418535	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:51418535G>A	ENST00000266037.9	+	53	5661	c.5638G>A	c.(5638-5640)Ggc>Agc	p.G1880S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1880					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGTCTGGACGGCAGCAACTC	0.617																																						ENST00000266037.9	1.000000	8.100000e-01	0.980000	0.870000	0.930000	0.933179	0.930000	0.970000																										0				45						c.(5638-5640)Ggc>Agc		dedicator of cytokinesis 3							64.0	77.0	73.0					3																	51418535		2192	4296	6488	SO:0001583	missense	1795	1	121374	34				g.chr3:51418535G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5638G>A	chr3.hg19:g.51418535G>A	ENSP00000266037:p.Gly1880Ser	1						p.G1880S	NM_004947.4	NP_004938.1	0	1	1	1.578307	Q8IZD9	DOCK3_HUMAN		53	5661	+			O15017	Missense_Mutation	SNP	ENST00000266037.9	0	1	hg19	c.5638G>A	CCDS46835.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883752	0.91814	.	.	ENSG00000088538	ENST00000266037	T	0.04119	3.7	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	N	0.21583	0.68	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.40739	-0.9547	10	0.10111	T	0.7	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1880	Q8IZD9	DOCK3_HUMAN	S	1880	ENSP00000266037:G1880S	ENSP00000266037:G1880S	G	+	1	0	0	DOCK3	51393575	51393575	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	9.221000	0.95188	2.941000	0.99782	0.655000	0.94253	GGC	0.307190		TCGA-FB-AAPQ-01A-11D-A40W-08	0.617	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	0	0	1		10	2		1		1	1	183		183	178	1	1.900000	-9.121468	1	0.470000	NM_004947			124	120		290	284	0		1			1		183			1.000000	0		0		0		124	290
CPB1	1360	broad.mit.edu	37	3	148563359	148563359	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:148563359G>A	ENST00000491148.1	+	10	1261	c.927G>A	c.(925-927)atG>atA	p.M309I	CPB1_ENST00000282957.4_Missense_Mutation_p.M309I			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	309						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACTCCCAAATGATGATCTACC	0.423																																						ENST00000491148.1	0.980000	6.300000e-01	0.900000	0.710000	0.800000	0.811151	0.800000	0.800000																										0				38						c.(925-927)atG>atA		carboxypeptidase B1 (tissue)							141.0	134.0	137.0					3																	148563359		2203	4300	6503	SO:0001583	missense	1360	0	0					g.chr3:148563359G>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.927G>A	chr3.hg19:g.148563359G>A	ENSP00000417222:p.Met309Ile	0					CPB1_ENST00000282957.4_Missense_Mutation_p.M309I	p.M309I			0	0	0	2.048269	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)	10	1261	+			O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	0	1	hg19	c.927G>A	CCDS33874.1	0	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804211	0.50315	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.10382	2.88;2.88	5.69	5.69	0.88448	5.69	5.69	0.88448	Peptidase M14, carboxypeptidase A (4);	0.189388	0.56097	D	0.000025	T	0.22859	0.0552	M	0.67700	2.07	0.48696	D	0.999698	P	0.38992	0.653	P	0.47102	0.537	T	0.00180	-1.1949	10	0.87932	D	0	.	14.9509	0.71074	0.0702:0.0:0.9298:0.0	.	309	P15086	CBPB1_HUMAN	I	309	ENSP00000417222:M309I;ENSP00000282957:M309I	ENSP00000282957:M309I	M	+	3	0	0	CPB1	150046049	150046049	1.000000	0.71417	0.994000	0.49952	0.035000	0.12851	3.756000	0.55205	2.677000	0.91161	0.655000	0.94253	ATG	0.470000		TCGA-FB-AAPQ-01A-11D-A40W-08	0.423	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	0	0	1		2	2		0		0	0	125		125	123	1	1.900000	-20.000000	1	0.470000	NM_001871			66	66		282	276	0		1	0		0		125			1.000000	6.478914e-01		0		11		66	282
KIAA0922	23240	broad.mit.edu	37	4	154557660	154557660	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:154557660A>C	ENST00000409663.3	+	35	4814	c.4762A>C	c.(4762-4764)Act>Cct	p.T1588P	KIAA0922_ENST00000409959.3_Missense_Mutation_p.T1589P|KIAA0922_ENST00000440693.1_Missense_Mutation_p.T1505P	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1588						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGACATATGGACTACCACAGC	0.443																																						ENST00000409663.3	0.310000	1.100000e-01	0.250000	0.150000	0.190000	0.207198	0.190000	0.200000																										0				63						c.(4762-4764)Act>Cct		KIAA0922							101.0	96.0	98.0					4																	154557660		2203	4300	6503	SO:0001583	missense	23240	0	0					g.chr4:154557660A>C	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4762A>C	chr4.hg19:g.154557660A>C	ENSP00000386574:p.Thr1588Pro	0					KIAA0922_ENST00000440693.1_Missense_Mutation_p.T1505P|KIAA0922_ENST00000409959.3_Missense_Mutation_p.T1589P	p.T1588P	NM_015196.3	NP_056011.3	1	2	3	2.051090	A2VDJ0	T131L_HUMAN		35	4814	+	all_hematologic(180;0.093)	Renal(120;0.118)	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	0	1	hg19	c.4762A>C	CCDS3783.2	0	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745420	0.89663	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.23147	2.22;1.92;2.22;1.93	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.053443	0.85682	D	0.000000	T	0.38054	0.1026	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	T	0.33111	-0.9881	10	0.72032	D	0.01	-21.6398	16.3721	0.83368	1.0:0.0:0.0:0.0	.	1505;1589;1588	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	P	1588;1505;1589;1366	ENSP00000386574:T1588P;ENSP00000409663:T1505P;ENSP00000386787:T1589P;ENSP00000240487:T1366P	ENSP00000240487:T1366P	T	+	1	0	0	KIAA0922	154777110	154777110	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.620000	0.90943	2.257000	0.74773	0.533000	0.62120	ACT	0.471243		TCGA-FB-AAPQ-01A-11D-A40W-08	0.443	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	0	0	1		2	2		0		0	0	150		150	149	1	1.900000	-18.961690	1	0.470000	NM_015196			18	18		370	369	0		1	0		0		150			0.999983	6.989887e-02		0		9		18	370
CCDC69	26112	broad.mit.edu	37	5	150584969	150584969	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:150584969C>G	ENST00000355417.2	-	2	290	c.116G>C	c.(115-117)gGg>gCg	p.G39A	CCDC69_ENST00000521308.1_Intron	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	39										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGTGTCCCCATTGAGGGG	0.517																																						ENST00000355417.2	1.000000	7.500000e-01	1.000000	0.850000	0.970000	0.942781	0.970000	1.000000																										0				9						c.(115-117)gGg>gCg		coiled-coil domain containing 69							142.0	138.0	139.0					5																	150584969		2203	4300	6503	SO:0001583	missense	26112	0	0					g.chr5:150584969C>G		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.116G>C	chr5.hg19:g.150584969C>G	ENSP00000347586:p.Gly39Ala	0					CCDC69_ENST00000521308.1_Intron	p.G39A	NM_015621.2	NP_056436.2	1	2	3	2.064620	A6NI79	CCD69_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	2	290	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	0	1	hg19	c.116G>C	CCDS4312.1	1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135710	0.56828	.	.	ENSG00000198624	ENST00000355417	T	0.22134	1.97	4.32	-1.51	0.08664	4.32	-1.51	0.08664	.	1.518870	0.03672	N	0.244161	T	0.13586	0.0329	L	0.27053	0.805	0.09310	N	1	B	0.21606	0.058	B	0.22601	0.04	T	0.26155	-1.0111	10	0.07990	T	0.79	-0.9078	7.9535	0.30029	0.0:0.3237:0.0:0.6763	.	39	A6NI79	CCD69_HUMAN	A	39	ENSP00000347586:G39A	ENSP00000347586:G39A	G	-	2	0	0	CCDC69	150565162	150565162	0.002000	0.14202	0.007000	0.13788	0.986000	0.74619	-0.301000	0.08232	-0.179000	0.10654	0.555000	0.69702	GGG	0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.517	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	0	0	1		2	2		0		0	0	30		30	29	1	1.900000	-3.128305	1	0.470000	NM_015621			52	51		176	172	0		1	0		0		30			1.000000	2.286236e-01		0		4		52	176
TNXB	7148	broad.mit.edu	37	6	32046935	32046935	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:32046935C>T	ENST00000375244.3	-	11	4451	c.4250G>A	c.(4249-4251)cGt>cAt	p.R1417H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1504	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCAACACGCACCGCCCG	0.662																																						ENST00000375244.3	1.000000	7.500000e-01	0.970000	0.820000	0.890000	0.899085	0.890000	1.000000																										0				8						c.(4249-4251)cGt>cAt		tenascin XB							105.0	120.0	115.0					6																	32046935		1305	2558	3863	SO:0001583	missense	7148	1	120852	31				g.chr6:32046935C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4250G>A	chr6.hg19:g.32046935C>T	ENSP00000364393:p.Arg1417His	0					TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H|RNA5SP206_ENST00000516703.1_RNA	p.R1417H			0	0	0	2.010714	P22105	TENX_HUMAN		11	4451	-			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	0	1	hg19	c.4250G>A		1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244413	0.39697	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57752	0.38;0.38	5.52	4.64	0.57946	5.52	4.64	0.57946	.	0.000000	0.41396	D	0.000889	T	0.34978	0.0916	M	0.67397	2.05	0.29740	N	0.837148	P	0.50617	0.937	P	0.47645	0.553	T	0.22382	-1.0218	10	0.13108	T	0.6	.	9.6088	0.39650	0.1602:0.6853:0.1545:0.0	.	1417	P22105-3	.	H	1417	ENSP00000364393:R1417H;ENSP00000364396:R1417H	ENSP00000364393:R1417H	R	-	2	0	0	TNXB	32154913	32154913	0.459000	0.25768	0.972000	0.41901	0.048000	0.14542	0.667000	0.25112	1.459000	0.47892	0.591000	0.81541	CGT	0.459845		TCGA-FB-AAPQ-01A-11D-A40W-08	0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	0	0	1		2	2		0		0	0	217		217	217	1	1.900000	-20.000000	1	0.470000	NM_019105			116	115		422	417	0		1	0		0		217			1.000000	0		0		1		116	422
RINT1	60561	broad.mit.edu	37	7	105204334	105204334	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:105204334G>A	ENST00000257700.2	+	12	2057	c.1826G>A	c.(1825-1827)cGt>cAt	p.R609H		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	609	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGTTGACCCGTCAAGTAGAC	0.388																																						ENST00000257700.2	1.000000	8.800000e-01	1.000000	0.980000	0.990000	0.989465	0.990000	1.000000																										0				22						c.(1825-1827)cGt>cAt		RAD50 interactor 1							102.0	92.0	95.0					7																	105204334		2203	4300	6503	SO:0001583	missense	60561	1	121412	28				g.chr7:105204334G>A	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1826G>A	chr7.hg19:g.105204334G>A	ENSP00000257700:p.Arg609His	0						p.R609H	NM_021930.4	NP_068749.3	1	2	3	2.075402	Q6NUQ1	RINT1_HUMAN		12	2057	+			Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	0	1	hg19	c.1826G>A	CCDS34726.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.392489	0.96009	.	.	ENSG00000135249	ENST00000257700	T	0.30981	1.51	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.42032	-0.9475	10	0.48119	T	0.1	-16.4485	20.8794	0.99867	0.0:0.0:1.0:0.0	.	609	Q6NUQ1	RINT1_HUMAN	H	609	ENSP00000257700:R609H	ENSP00000257700:R609H	R	+	2	0	0	RINT1	104991570	104991570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.142000	0.77339	2.941000	0.99782	0.655000	0.94253	CGT	0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.388	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	0	0	1		11	2		1		1	1	107		107	107	1	1.900000	-5.167447	1	0.470000	NM_021930			73	73		212	210	0		1	1		1		107			1.000000	9.764036e-01		7		13		73	212
POU6F2	11281	broad.mit.edu	37	7	39379547	39379547	+	Missense_Mutation	SNP	C	C	T	rs144939808	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:39379547C>T	ENST00000403058.1	+	6	972	c.818C>T	c.(817-819)cCg>cTg	p.P273L	POU6F2_ENST00000559001.1_Missense_Mutation_p.P265L|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Missense_Mutation_p.P273L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	273	Gln-rich.|Pro-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						tccagccccCCGCAGAAACCT	0.627																																						ENST00000403058.1	1.000000	6.000000e-01	0.920000	0.690000	0.800000	0.809811	0.800000	1.000000																										0				42						c.(817-819)cCg>cTg		POU class 6 homeobox 2		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	116.0	130.0	125.0		818,818	3.8	1.0	7	dbSNP_134	125	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	POU6F2	NM_001166018.1,NM_007252.3	98,98	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	273/656,273/692	39379547	3,13003	2203	4300	6503	SO:0001583	missense	11281	58	121412	49				g.chr7:39379547C>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.818C>T	chr7.hg19:g.39379547C>T	ENSP00000384004:p.Pro273Leu	0					POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Missense_Mutation_p.P273L|POU6F2_ENST00000559001.1_Missense_Mutation_p.P265L	p.P273L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	1	2	3	2.075402	P78424	PO6F2_HUMAN		6	972	+			A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	0	1	hg19	c.818C>T	CCDS34620.2	0	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722810	0.48728	0.0	3.49E-4	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.85702	0.99;-2.02	4.66	3.76	0.43208	4.66	3.76	0.43208	.	2586.510000	0.00166	N	0.000001	D	0.86016	0.5832	L	0.55481	1.735	0.46678	D	0.999155	P;P	0.45011	0.848;0.725	B;B	0.41619	0.361;0.074	T	0.71580	-0.4550	10	0.49607	T	0.09	.	13.9533	0.64131	0.1534:0.8466:0.0:0.0	.	273;273	P78424-2;P78424	.;PO6F2_HUMAN	L	273	ENSP00000384004:P273L;ENSP00000430514:P273L	ENSP00000384004:P273L	P	+	2	0	0	POU6F2	39346072	39346072	1.000000	0.71417	0.992000	0.48379	0.949000	0.60115	5.936000	0.70153	0.916000	0.36871	0.557000	0.71058	CCG	0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.627	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	0	0	1		2	2		0		0	0	65		65	63	1	1.900000	-2.653406	1	0.470000	NM_007252			43	42		186	181	0		1	0		0		65			1.000000	0		0		1		43	186
PODXL	5420	broad.mit.edu	37	7	131196176	131196176	+	Silent	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:131196176C>T	ENST00000378555.3	-	2	364	c.117G>A	c.(115-117)acG>acA	p.T39T	PODXL_ENST00000537928.1_Silent_p.T39T|PODXL_ENST00000541194.1_Silent_p.T41T|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000322985.9_Silent_p.T39T			O00592	PODXL_HUMAN	podocalyxin-like	39	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TAGATGAGTCCGTAGTAGTCT	0.527																																						ENST00000378555.3	1.000000	6.300000e-01	0.930000	0.720000	0.810000	0.825963	0.810000	1.000000																										0				24						c.(115-117)acG>acA		podocalyxin-like							191.0	182.0	185.0					7																	131196176		2203	4300	6503	SO:0001819	synonymous_variant	5420	0	0					g.chr7:131196176C>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.117G>A	chr7.hg19:g.131196176C>T		0					PODXL_ENST00000322985.9_Silent_p.T39T|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000537928.1_Silent_p.T39T|PODXL_ENST00000541194.1_Silent_p.T41T	p.T39T			1	2	3	2.075402	O00592	PODXL_HUMAN		2	364	-	Melanoma(18;0.162)		A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	0	1	hg19	c.117G>A	CCDS34755.1	0																																																																																								0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.527	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	0	0	1		2	2		0		0	0	113		113	109	1	1.900000	-2.474241	0	0.470000	NM_001018111			52	50		219	215	0		1	0		0		113			1.000000	2.501450e-01		1		4		52	219
ANK1	286	broad.mit.edu	37	8	41563703	41563703	+	Silent	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:41563703A>G	ENST00000347528.4	-	18	2138	c.2055T>C	c.(2053-2055)gaT>gaC	p.D685D	ANK1_ENST00000396945.1_Silent_p.D685D|ANK1_ENST00000352337.4_Silent_p.D685D|ANK1_ENST00000379758.2_Silent_p.D685D|ANK1_ENST00000265709.8_Silent_p.D718D|ANK1_ENST00000289734.7_Silent_p.D685D|ANK1_ENST00000396942.1_Silent_p.D685D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	685	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGATCAGCACATCTGCCACTG	0.522																																						ENST00000347528.4	1.000000	8.800000e-01	1.000000	0.980000	0.990000	0.989248	0.990000	1.000000																										0				122						c.(2053-2055)gaT>gaC		ankyrin 1, erythrocytic							80.0	68.0	72.0					8																	41563703		2203	4300	6503	SO:0001819	synonymous_variant	286	0	0					g.chr8:41563703A>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2055T>C	chr8.hg19:g.41563703A>G		0					ANK1_ENST00000396945.1_Silent_p.D685D|ANK1_ENST00000289734.7_Silent_p.D685D|ANK1_ENST00000396942.1_Silent_p.D685D|ANK1_ENST00000379758.2_Silent_p.D685D|ANK1_ENST00000352337.4_Silent_p.D685D|ANK1_ENST00000265709.8_Silent_p.D718D	p.D685D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	1	2	3	2.064278	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)	18	2138	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	0	1	hg19	c.2055T>C	CCDS6119.1	1																																																																																								0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	0	0	1		10	2		0		0	1	113		113	112	1	1.900000	-5.280714	1	0.470000	NM_020475			66	64		190	187	0		1	0		0		113			1.000000	6.818114e-02		1		1		66	190
SYBU	55638	broad.mit.edu	37	8	110588134	110588134	+	Silent	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:110588134C>T	ENST00000422135.1	-	8	1508	c.993G>A	c.(991-993)agG>agA	p.R331R	SYBU_ENST00000529175.1_Silent_p.R125R|SYBU_ENST00000276646.9_Silent_p.R331R|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000528647.1_Silent_p.R330R|SYBU_ENST00000533895.1_Silent_p.R330R|SYBU_ENST00000533065.1_Silent_p.R212R|SYBU_ENST00000419099.1_Silent_p.R330R|SYBU_ENST00000424158.2_Silent_p.R336R|SYBU_ENST00000532779.1_Silent_p.R263R|SYBU_ENST00000408908.2_Silent_p.R331R|SYBU_ENST00000440310.1_Silent_p.R331R|SYBU_ENST00000408889.3_Silent_p.R212R|SYBU_ENST00000529690.1_Silent_p.R201R|SYBU_ENST00000433638.1_Silent_p.R331R|SYBU_ENST00000399066.3_Silent_p.R328R|SYBU_ENST00000528331.1_Silent_p.R212R|SYBU_ENST00000446070.2_Silent_p.R330R|SYBU_ENST00000533171.1_Silent_p.R331R	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	331	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.			R -> G (in Ref. 3; BAG53323). {ECO:0000305}.	regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TAATCTCTTTCCTGGCTTCTT	0.488																																						ENST00000422135.1	0.290000	1.000000e-01	0.240000	0.140000	0.180000	0.198557	0.180000	0.180000																										0				30						c.(991-993)agG>agA		syntabulin (syntaxin-interacting)							87.0	90.0	89.0					8																	110588134		1977	4205	6182	SO:0001819	synonymous_variant	55638	0	0					g.chr8:110588134C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.993G>A	chr8.hg19:g.110588134C>T		0					SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000529175.1_Silent_p.R125R|SYBU_ENST00000533171.1_Silent_p.R331R|SYBU_ENST00000408908.2_Silent_p.R331R|SYBU_ENST00000529690.1_Silent_p.R201R|SYBU_ENST00000440310.1_Silent_p.R331R|SYBU_ENST00000424158.2_Silent_p.R336R|SYBU_ENST00000532779.1_Silent_p.R263R|SYBU_ENST00000408889.3_Silent_p.R212R|SYBU_ENST00000276646.9_Silent_p.R331R|SYBU_ENST00000446070.2_Silent_p.R330R|SYBU_ENST00000433638.1_Silent_p.R331R|SYBU_ENST00000419099.1_Silent_p.R330R|SYBU_ENST00000528331.1_Silent_p.R212R|SYBU_ENST00000399066.3_Silent_p.R328R|SYBU_ENST00000528647.1_Silent_p.R330R|SYBU_ENST00000533895.1_Silent_p.R330R|SYBU_ENST00000533065.1_Silent_p.R212R	p.R331R	NM_001099744.1	NP_001093214.1	1	2	3	2.064278	Q9NX95	SYBU_HUMAN		8	1508	-			A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	0	1	hg19	c.993G>A	CCDS47912.1	0																																																																																								0.472479		TCGA-FB-AAPQ-01A-11D-A40W-08	0.488	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	0	0	1		2	2		1		1	0	179		179	178	1	1.900000	-3.277863	1	0.470000	NM_017786			18	17		405	400	0		1	0		1		179			0.999981	6.008649e-02		0		9		18	405
FAM129B	64855	broad.mit.edu	37	9	130272530	130272530	+	Silent	SNP	G	G	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr9:130272530G>C	ENST00000373312.3	-	9	1269	c.1056C>G	c.(1054-1056)gtC>gtG	p.V352V	FAM129B_ENST00000373314.3_Silent_p.V339V|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	352					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTGGTGGGGACCATCAGGG	0.607																																						ENST00000373312.3	1.000000	6.600000e-01	0.900000	0.730000	0.800000	0.817380	0.800000	0.810000																										0				25						c.(1054-1056)gtC>gtG		family with sequence similarity 129, member B							141.0	134.0	136.0					9																	130272530		2203	4300	6503	SO:0001819	synonymous_variant	64855	0	0					g.chr9:130272530G>C	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1056C>G	chr9.hg19:g.130272530G>C		0					FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.V339V	p.V352V	NM_022833.2	NP_073744.2	1	2	3	2.080301	Q96TA1	NIBL1_HUMAN		9	1269	-			Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	0	1	hg19	c.1056C>G	CCDS35145.1	0																																																																																								0.474936		TCGA-FB-AAPQ-01A-11D-A40W-08	0.607	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	0	0	1		2	2		0		0	0	162		162	160	1	1.900000	-20.000000	1	0.470000	NM_022833			93	92		401	393	0		1	1		0		162			1.000000	1		117		152		93	401
ELK1	2002	broad.mit.edu	37	X	47500789	47500789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chrX:47500789G>A	ENST00000247161.3	-	2	151	c.52C>T	c.(52-54)Caa>Taa	p.Q18*	ELK1_ENST00000376983.3_Nonsense_Mutation_p.Q18*|ELK1_ENST00000592066.1_5'UTR|ELK1_ENST00000343894.4_Nonsense_Mutation_p.Q18*	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	18					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CCATTGCCTTGCTCTCTCAGC	0.597																																						ENST00000247161.3	1.000000	8.500000e-01	1.000000	0.920000	0.960000	0.961917	0.960000	0.990000																										0				10						c.(52-54)Caa>Taa		ELK1, member of ETS oncogene family							72.0	50.0	57.0					X																	47500789		2203	4300	6503	SO:0001587	stop_gained	2002	0	0					g.chrX:47500789G>A	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.52C>T	chrX.hg19:g.47500789G>A	ENSP00000247161:p.Gln18*						ELK1_ENST00000376983.3_Nonsense_Mutation_p.Q18*|ELK1_ENST00000592066.1_5'UTR|ELK1_ENST00000343894.4_Nonsense_Mutation_p.Q18*	p.Q18*	NM_005229.4	NP_005220.2	0	1	1		P19419	ELK1_HUMAN		2	151	-			B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Nonsense_Mutation	SNP	ENST00000247161.3	0	1	hg19	c.52C>T	CCDS14283.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.415103	0.96092	.	.	ENSG00000126767	ENST00000247161;ENST00000376983;ENST00000343894	.	.	.	4.89	4.89	0.63831	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.323	0.66499	0.0:0.0:1.0:0.0	.	.	.	.	X	18	.	ENSP00000247161:Q18X	Q	-	1	0	0	ELK1	47385733	47385733	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.239000	0.72356	2.255000	0.74692	0.506000	0.49869	CAA	0.470000		TCGA-FB-AAPQ-01A-11D-A40W-08	0.597	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	0	0	1		2	2		0		0	0	30		30	30	1	1.900000	-20.000000	1	0.470000	NM_005229			51	50		37	37	0		1	1		0		30			1.000000	9.999995e-01		13		12		51	37
