#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	7578199	7578200	+	Frame_Shift_Ins	INS	-	-	CC	rs35163653	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			-	CC	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:7578199_7578200insCC	ENST00000269305.4	-	6	838_839	c.649_650insGG	c.(649-651)gtgfs	p.V217fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Ins_p.V217fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V217fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.V217fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.V217fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.V217fs	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	217	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in dbSNP:rs35163653).		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.?(11)|p.0?(8)|p.V217A(5)|p.V217E(3)|p.V217G(3)|p.V217L(2)|p.D208fs*1(1)|p.V216fs*28(1)|p.V217fs*33(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V217fs*5(1)|p.V217del(1)|p.S215fs*27(1)|p.S215_V218>M(1)|p.V216_Y220delVVVPY(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(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)	ATAGGGCACCACCACACTATGT	0.545		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	1.000000	9.300000e-01	1.000000	0.990000	0.990000	0.996291	0.990000	1.000000		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		44	Substitution - Missense(13)|Unknown(11)|Whole gene deletion(8)|Deletion - Frameshift(5)|Deletion - In frame(3)|Insertion - Frameshift(2)|Complex - deletion inframe(2)	p.?(11)|p.0?(8)|p.V217A(5)|p.V217E(3)|p.V217G(3)|p.V217L(2)|p.D208fs*1(1)|p.V216fs*28(1)|p.V217fs*33(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V217fs*5(1)|p.V217del(1)|p.S215fs*27(1)|p.S215_V218>M(1)|p.V216_Y220delVVVPY(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)	oesophagus(6)|biliary_tract(5)|endometrium(5)|central_nervous_system(4)|liver(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|large_intestine(2)|lung(2)|small_intestine(1)|pancreas(1)	24185						c.(649-651)gtgfs	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.chr17:7578199_7578200insCC	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.648_649dupGG	chr17.hg19:g.7578200_7578201dupCC	ENSP00000269305:p.Val217fs	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_Ins_p.V217fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V217fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.V217fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.V217fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.V217fs	p.V217fs	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	3	3	1.570235	P04637	P53_HUMAN		6	838_839	-		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_Ins	INS	ENST00000269305.4	0	1	hg19	c.649_650insGG	CCDS11118.1	1																																																																																								0.614869		TCGA-2J-AABI-01A-12D-A40W-08	0.545	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	0	1		2	2		0		0	0	32		32	32	1	3.450000	-20.000000	1	0.540000	NM_000546			53	53		145	145	0		1	0		0		32			1.000000	9.986863e-01		0		31		53	145
SMAD4	4089	broad.mit.edu	37	18	48584730	48584730	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr18:48584730delG	ENST00000342988.3	+	7	1346	c.808delG	c.(808-810)ggafs	p.G270fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.G270fs|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	270					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.?(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)		CACCTGGACTGGAAGTAGGAC	0.443																																						ENST00000342988.3	1.000000	9.900000e-01	1.000000	0.990000	0.990000	0.999817	0.990000	1.000000																										38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|stomach(3)|breast(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	454						c.(808-810)ggafs		SMAD family member 4							124.0	109.0	114.0					18																	48584730		2203	4300	6503	SO:0001589	frameshift_variant	4089	0	0					g.chr18:48584730delG	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.808delG	chr18.hg19:g.48584730delG	ENSP00000341551:p.Gly270fs	1					SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.G270fs	p.G270fs	NM_005359.5	NP_005350.1	0	2	2	1.463131	Q13485	SMAD4_HUMAN		7	1346	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	0	1	hg19	c.808delG	CCDS11950.1	1																																																																																								0.540000		TCGA-2J-AABI-01A-12D-A40W-08	0.443	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	0	1		30	2		0		0	2	88		88	86	1	3.450000	-13.549960	1	0.540000	NM_005359			188	194		410	403	0		1	1		0		88			1.000000	9.999956e-01		7		35		188	410
LRP4	4038	broad.mit.edu	37	11	46894718	46894718	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr11:46894718G>A	ENST00000378623.1	-	30	4758	c.4516C>T	c.(4516-4518)Cgg>Tgg	p.R1506W	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1506					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGGACCTTCCGCTCAGAACCA	0.537																																						ENST00000378623.1	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				70						c.(4516-4518)Cgg>Tgg		low density lipoprotein receptor-related protein 4							123.0	109.0	114.0					11																	46894718		2201	4299	6500	SO:0001583	missense	4038	3	121412	34				g.chr11:46894718G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4516C>T	chr11.hg19:g.46894718G>A	ENSP00000367888:p.Arg1506Trp	1					LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	p.R1506W	NM_002334.3	NP_002325.2	2	2	4	2.265177	O75096	LRP4_HUMAN		30	4758	-			B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	0	1	hg19	c.4516C>T	CCDS31478.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571882	0.86542	.	.	ENSG00000134569	ENST00000378623	D	0.97665	-4.48	5.91	2.57	0.30868	5.91	2.57	0.30868	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99809	1.1040	10	0.87932	D	0	.	15.2244	0.73339	0.0:0.0:0.5292:0.4708	.	1506	O75096	LRP4_HUMAN	W	1506	ENSP00000367888:R1506W	ENSP00000367888:R1506W	R	-	1	2	2	LRP4	46851294	46851294	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.156000	0.42310	0.593000	0.29745	0.655000	0.94253	CGG	0.701299		TCGA-2J-AABI-01A-12D-A40W-08	0.537	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	0	0	1		2	2		0		0	0	64		64	64	1	3.450000	-12.667360	1	0.540000	NM_002334			127	125		252	248	0		1	1		0		64			1.000000	9.980570e-01		12		10		127	252
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	0	0		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.chr12:25398285C>G	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.34G>C	chr12.hg19:g.25398285C>G	ENSP00000256078:p.Gly12Arg	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	p.G12R	NM_033360.2	NP_203524.1	2	8	10	4.579651	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	97	-	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.34G>C	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	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	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	0	KRAS	25289552	25289552	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	0.854430		TCGA-2J-AABI-01A-12D-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	4		1		1	0	72		72	71	1	3.450000	-20.000000	1	0.540000	NM_033360			262	257		175	174	0		1	1		1		72			1.000000	1		32		10		262	175
KCNA6	3742	broad.mit.edu	37	12	4920048	4920048	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:4920048C>T	ENST00000280684.3	+	1	1707	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	KCNA6_ENST00000433855.1_Missense_Mutation_p.R281C|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	281					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GCTCCTGGTGCGCTTCTCCGC	0.542										HNSCC(72;0.22)																												ENST00000280684.3	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				49						c.(841-843)Cgc>Tgc		potassium voltage-gated channel, shaker-related subfamily, member 6	Dalfampridine(DB06637)						89.0	83.0	85.0					12																	4920048		2203	4300	6503	SO:0001583	missense	3742	0	0					g.chr12:4920048C>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.841C>T	chr12.hg19:g.4920048C>T	ENSP00000280684:p.Arg281Cys	1	HNSCC(72;0.22)				RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.R281C	p.R281C			2	9	11	4.778521	P17658	KCNA6_HUMAN		1	1707	+				Missense_Mutation	SNP	ENST00000280684.3	0	1	hg19	c.841C>T	CCDS8534.1	1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560274	0.65538	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.98732	-5.1;-5.1	5.28	5.28	0.74379	5.28	5.28	0.74379	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	H	0.99847	4.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97514	1.0068	10	0.87932	D	0	.	13.0973	0.59200	0.16:0.84:0.0:0.0	.	281	P17658	KCNA6_HUMAN	C	281	ENSP00000408321:R281C;ENSP00000280684:R281C	ENSP00000280684:R281C	R	+	1	0	0	KCNA6	4790309	4790309	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	2.317000	0.43770	2.746000	0.94184	0.655000	0.94253	CGC	0.859935		TCGA-2J-AABI-01A-12D-A40W-08	0.542	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	0	0	1		38	2		1		1	1	73		73	70	1	3.450000	-20.000000	1	0.540000	NM_002235			168	166		802	791	0		1			1		73			1.000000	0		0		0		168	802
SLC38A1	81539	broad.mit.edu	37	12	46599923	46599923	+	Missense_Mutation	SNP	C	C	T	rs369346779		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr12:46599923C>T	ENST00000398637.5	-	9	1280	c.586G>A	c.(586-588)Gtt>Att	p.V196I	SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000549049.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000552197.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000546893.1_Missense_Mutation_p.V196I	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	196					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACCACCAGAACGCGGCCATCC	0.393																																						ENST00000398637.5	0.240000	4.000000e-02	0.180000	0.070000	0.110000	0.127800	0.110000	0.110000																										0				23						c.(586-588)Gtt>Att		solute carrier family 38, member 1		C	ILE/VAL,ILE/VAL	0,3836		0,0,1918	87.0	90.0	89.0		586,586	-5.6	0.0	12		89	1,8287		0,1,4143	no	missense,missense	SLC38A1	NM_001077484.1,NM_030674.3	29,29	0,1,6061	TT,TC,CC		0.0121,0.0,0.0082	benign,benign	196/488,196/488	46599923	1,12123	1918	4144	6062	SO:0001583	missense	81539	2	120866	34				g.chr12:46599923C>T	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.586G>A	chr12.hg19:g.46599923C>T	ENSP00000381634:p.Val196Ile	1					SLC38A1_ENST00000439706.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000552197.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000549049.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000546893.1_Missense_Mutation_p.V196I|SLC38A1_ENST00000549633.1_5'UTR	p.V196I	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	0	2	2	1.499980	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)	9	1280	-	Lung SC(27;0.137)|Renal(347;0.236)		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	0	1	hg19	c.586G>A	CCDS41774.1	0	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100901	0.20552	0.0	1.21E-4	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02525	4.26;4.26;4.26;4.26;4.26	5.7	-5.61	0.02489	5.7	-5.61	0.02489	.	0.669277	0.13946	N	0.351847	T	0.00815	0.0027	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.12630	0.006;0.003;0.0	B;B;B	0.13407	0.009;0.005;0.003	T	0.44050	-0.9353	10	0.29301	T	0.29	-0.7853	2.2946	0.04147	0.2037:0.2101:0.3999:0.1863	.	196;196;196	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	I	196	ENSP00000449607:V196I;ENSP00000398142:V196I;ENSP00000381634:V196I;ENSP00000447853:V196I;ENSP00000449756:V196I	ENSP00000381634:V196I	V	-	1	0	0	SLC38A1	44886190	44886190	0.000000	0.05858	0.001000	0.08648	0.650000	0.38633	-0.721000	0.04963	-0.512000	0.06505	-0.463000	0.05309	GTT	0.540000		TCGA-2J-AABI-01A-12D-A40W-08	0.393	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2	0	0	1		2	2		0		0	0	27		27	27	1	3.450000	-7.070014	1	0.540000				5	5		166	163	0		1	1		0		27			0.935541	9.985998e-02		3		12		5	166
SLC8A3	6547	broad.mit.edu	37	14	70517819	70517819	+	Silent	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr14:70517819C>T	ENST00000381269.2	-	6	2790	c.2037G>A	c.(2035-2037)acG>acA	p.T679T	SLC8A3_ENST00000356921.2_Silent_p.T673T|SLC8A3_ENST00000394330.2_Silent_p.T36T|SLC8A3_ENST00000533541.1_Silent_p.T36T|SLC8A3_ENST00000216568.7_Silent_p.T50T|SLC8A3_ENST00000357887.3_Silent_p.T677T|SLC8A3_ENST00000528359.1_Silent_p.T677T|SLC8A3_ENST00000534137.1_Silent_p.T676T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	679					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTTTGTCCACCGTAGTCTGTT	0.488																																						ENST00000381269.2	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				54						c.(2035-2037)acG>acA		solute carrier family 8 (sodium/calcium exchanger), member 3							117.0	86.0	97.0					14																	70517819		2203	4300	6503	SO:0001819	synonymous_variant	6547	3	121412	32				g.chr14:70517819C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2037G>A	chr14.hg19:g.70517819C>T		1					SLC8A3_ENST00000394330.2_Silent_p.T36T|SLC8A3_ENST00000356921.2_Silent_p.T673T|SLC8A3_ENST00000528359.1_Silent_p.T677T|SLC8A3_ENST00000216568.7_Silent_p.T50T|SLC8A3_ENST00000357887.3_Silent_p.T677T|SLC8A3_ENST00000533541.1_Silent_p.T36T|SLC8A3_ENST00000534137.1_Silent_p.T676T	p.T679T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	0	2	2	1.482885	P57103	NAC3_HUMAN		6	2790	-			Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	0	1	hg19	c.2037G>A	CCDS35498.1	1																																																																																								0.540000		TCGA-2J-AABI-01A-12D-A40W-08	0.488	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1	0	0	1		2	2		0		0	0	56		56	56	1	3.450000	-19.999970	1	0.540000				93	92		83	82	0		1			0		56			1.000000	0		0		0		93	83
VPS13C	54832	broad.mit.edu	37	15	62232964	62232964	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:62232964T>C	ENST00000261517.5	-	47	5556	c.5483A>G	c.(5482-5484)aAt>aGt	p.N1828S	VPS13C_ENST00000395898.3_Missense_Mutation_p.N1785S|VPS13C_ENST00000395896.4_Missense_Mutation_p.N1828S|VPS13C_ENST00000249837.3_Missense_Mutation_p.N1785S	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCAATGTCATTTTGTGGCAA	0.333																																						ENST00000261517.5	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				117						c.(5482-5484)aAt>aGt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							107.0	99.0	102.0					15																	62232964		2203	4300	6503	SO:0001583	missense	54832	0	0					g.chr15:62232964T>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5483A>G	chr15.hg19:g.62232964T>C	ENSP00000261517:p.Asn1828Ser	1					VPS13C_ENST00000395896.4_Missense_Mutation_p.N1828S|VPS13C_ENST00000395898.3_Missense_Mutation_p.N1785S|VPS13C_ENST00000249837.3_Missense_Mutation_p.N1785S	p.N1828S	NM_020821.2	NP_065872.1	2	2	4	2.231649				47	5556	-				Missense_Mutation	SNP	ENST00000261517.5	0	1	hg19	c.5483A>G	CCDS32257.1	1	.	.	.	.	.	.	.	.	.	.	T	0.137	-1.107141	0.01813	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.13657	2.57;2.57;2.57	5.15	-0.383	0.12477	5.15	-0.383	0.12477	.	0.958623	0.08693	N	0.907579	T	0.07188	0.0182	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.12156	0.007;0.0;0.007;0.0	T	0.37596	-0.9699	10	0.10902	T	0.67	.	16.7954	0.85600	0.0:0.0:0.7831:0.2169	.	1785;1828;1785;1828	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	1785;1828;1828;1828	ENSP00000249837:N1785S;ENSP00000261517:N1828S;ENSP00000379233:N1828S	ENSP00000249837:N1785S	N	-	2	0	0	VPS13C	60020256	60020256	0.000000	0.05858	0.038000	0.18304	0.291000	0.27294	-0.102000	0.10956	-0.049000	0.13379	0.374000	0.22700	AAT	0.701299		TCGA-2J-AABI-01A-12D-A40W-08	0.333	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	0	0	1		2	2		0		0	0	49		49	49	1	3.450000	-20.000000	1	0.540000	NM_017684			97	96		220	219	0		1	1		0		49			1.000000	3.612524e-01		2		2		97	220
IGDCC3	9543	broad.mit.edu	37	15	65667682	65667682	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:65667682G>A	ENST00000327987.4	-	2	413	c.162C>T	c.(160-162)gtC>gtT	p.V54V		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	54	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTGCCCGGGGACGGCAACAT	0.577																																						ENST00000327987.4	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				30						c.(160-162)gtC>gtT		immunoglobulin superfamily, DCC subclass, member 3							40.0	32.0	35.0					15																	65667682		2201	4299	6500	SO:0001819	synonymous_variant	9543	0	0					g.chr15:65667682G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.162C>T	chr15.hg19:g.65667682G>A		1						p.V54V	NM_004884.3	NP_004875.2	2	2	4	2.231649	Q8IVU1	IGDC3_HUMAN		2	413	-			O95215	Silent	SNP	ENST00000327987.4	0	1	hg19	c.162C>T	CCDS10205.1	1																																																																																								0.701299		TCGA-2J-AABI-01A-12D-A40W-08	0.577	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	0	0	1		2	2		0		0	0	22		22	22	1	3.450000	-20.000000	1	0.540000	NM_004884			57	56		80	80	0		1			0		22			1.000000	0		0		0		57	80
NEO1	4756	broad.mit.edu	37	15	73528770	73528770	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr15:73528770G>A	ENST00000339362.5	+	9	1821	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Silent_p.T458T|NEO1_ENST00000560262.1_Silent_p.T458T|NEO1_ENST00000261908.6_Silent_p.T458T			Q92859	NEO1_HUMAN	neogenin 1	458	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T458T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TCAAATTGACGTGGCGGACAC	0.557																																						ENST00000339362.5	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										1	Substitution - coding silent(1)	p.T458T(1)	large_intestine(1)	57						c.(1372-1374)acG>acA		neogenin 1							218.0	166.0	184.0					15																	73528770		2198	4297	6495	SO:0001819	synonymous_variant	4756	1	121412	33				g.chr15:73528770G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1374G>A	chr15.hg19:g.73528770G>A		1					NEO1_ENST00000261908.6_Silent_p.T458T|NEO1_ENST00000558964.1_Silent_p.T458T|NEO1_ENST00000560262.1_Silent_p.T458T|NEO1_ENST00000560352.1_3'UTR	p.T458T			2	2	4	2.231649	Q92859	NEO1_HUMAN		9	1821	+			B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	0	1	hg19	c.1374G>A	CCDS10247.1	1																																																																																								0.701299		TCGA-2J-AABI-01A-12D-A40W-08	0.557	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	0	0	1		2	2		0		0	0	97		97	97	1	3.450000	-20.000000	1	0.540000	NM_002499			205	198		312	308	0		1	1		0		97			1.000000	1		28		35		205	312
TSC2	7249	broad.mit.edu	37	16	2115574	2115574	+	Missense_Mutation	SNP	G	G	A	rs137854159		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:2115574G>A	ENST00000219476.3	+	16	2284	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	TSC2_ENST00000401874.2_Missense_Mutation_p.A552T|TSC2_ENST00000353929.4_Missense_Mutation_p.A552T|TSC2_ENST00000382538.6_Missense_Mutation_p.A503T|TSC2_ENST00000350773.4_Missense_Mutation_p.A552T|TSC2_ENST00000568454.1_Missense_Mutation_p.A563T|TSC2_ENST00000439673.2_Missense_Mutation_p.A515T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	552					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.A552T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGATGTGGCCGCATACTCGGC	0.622			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3	1.000000	0	1.000000	0.020000	0.050000	0.272145	0.050000	0.040000			yes	Rec		Tuberous sclerosis 2	yes	Rec		Tuberous sclerosis 2	16	16p13.3	16p13.3	7249	D, Mis, N, F, S	tuberous sclerosis 2 gene				"""E, O"""	E, O		hamartoma, renal cell			1	Substitution - Missense(1)	p.A552T(1)	central_nervous_system(1)	56						c.(1654-1656)Gca>Aca		tuberous sclerosis 2							105.0	113.0	110.0					16																	2115574		2198	4300	6498	SO:0001583	missense	7249	0	0		Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	g.chr16:2115574G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1654G>A	chr16.hg19:g.2115574G>A	ENSP00000219476:p.Ala552Thr	1					TSC2_ENST00000353929.4_Missense_Mutation_p.A552T|TSC2_ENST00000439673.2_Missense_Mutation_p.A515T|TSC2_ENST00000401874.2_Missense_Mutation_p.A552T|TSC2_ENST00000350773.4_Missense_Mutation_p.A552T|TSC2_ENST00000382538.6_Missense_Mutation_p.A503T|TSC2_ENST00000568454.1_Missense_Mutation_p.A563T	p.A552T	NM_000548.3	NP_000539.2	3	3	6	2.345484	P49815	TSC2_HUMAN		16	2284	+		Hepatocellular(780;0.0202)	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	0	1	hg19	c.1654G>A	CCDS10458.1	0	.	.	.	.	.	.	.	.	.	.	g	9.908	1.208749	0.22205	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.89050	-2.41;-2.37;-2.37;-2.46;-2.42;-2.4	5.46	2.03	0.26663	5.46	2.03	0.26663	Armadillo-type fold (1);	0.566436	0.19631	N	0.109677	T	0.75162	0.3812	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.30281	0.175;0.275;0.014;0.275;0.236;0.198	B;B;B;B;B;B	0.29663	0.105;0.093;0.01;0.093;0.049;0.058	T	0.61840	-0.6980	10	0.21540	T	0.41	-5.6476	6.7396	0.23428	0.0917:0.0:0.4303:0.4781	.	503;515;552;552;552;552	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	T	552;552;552;515;503;552	ENSP00000219476:A552T;ENSP00000384468:A552T;ENSP00000248099:A552T;ENSP00000399232:A515T;ENSP00000371978:A503T;ENSP00000344383:A552T	ENSP00000219476:A552T	A	+	1	0	0	TSC2	2055575	2055575	0.287000	0.24315	0.001000	0.08648	0.009000	0.06853	1.799000	0.38824	0.609000	0.30018	0.561000	0.74099	GCA	0.719032		TCGA-2J-AABI-01A-12D-A40W-08	0.622	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	0	0	1		20	3		1		1	1	156		156	154	1	3.450000	-1.737951	0	0.540000	NM_000548			7	7		930	895	0		0	0		1		156			0.006874	1.073293e-02		0		49		7	930
CHD9	80205	broad.mit.edu	37	16	53265573	53265573	+	Nonsense_Mutation	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr16:53265573C>G	ENST00000398510.3	+	9	2475	c.2388C>G	c.(2386-2388)taC>taG	p.Y796*	CHD9_ENST00000564845.1_Nonsense_Mutation_p.Y796*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.Y796*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.Y796*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	796	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTATTTACTACTTAGTAAAAT	0.294																																						ENST00000398510.3	1.000000	9.900000e-01	1.000000	0.990000	0.990000	0.999996	0.990000	1.000000																										0				78						c.(2386-2388)taC>taG		chromodomain helicase DNA binding protein 9							40.0	37.0	38.0					16																	53265573		1791	4056	5847	SO:0001587	stop_gained	80205	0	0					g.chr16:53265573C>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2388C>G	chr16.hg19:g.53265573C>G	ENSP00000381522:p.Tyr796*	1					CHD9_ENST00000447540.1_Nonsense_Mutation_p.Y796*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.Y796*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.Y796*	p.Y796*			3	3	6	2.418266	Q3L8U1	CHD9_HUMAN		9	2475	+		all_cancers(37;0.0212)	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Nonsense_Mutation	SNP	ENST00000398510.3	0	1	hg19	c.2388C>G		1	.	.	.	.	.	.	.	.	.	.	C	41	8.572997	0.98868	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	.	.	.	5.3	4.35	0.52113	5.3	4.35	0.52113	.	0.000000	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0301	8.9015	0.35497	0.0:0.783:0.0:0.217	.	.	.	.	X	796;796;322	.	ENSP00000219084:Y322X	Y	+	3	2	2	CHD9	51823074	51823074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.904000	0.28491	1.240000	0.43803	0.655000	0.94253	TAC	0.726256		TCGA-2J-AABI-01A-12D-A40W-08	0.294	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	0	0	1		2	2		0		0	0	13		13	13	1	3.450000	-20.000000	1	0.540000	NM_025134			32	31		73	73	0		1	0		0		13			1.000000	2.289243e-01		1		2		32	73
SCN4A	6329	broad.mit.edu	37	17	62036708	62036708	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:62036708C>T	ENST00000435607.1	-	12	2012	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	SCN4A_ENST00000578147.1_Missense_Mutation_p.D646N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	646					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGATGCTGTCGAAGATATTC	0.547																																						ENST00000435607.1	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				101						c.(1936-1938)Gac>Aac		sodium channel, voltage-gated, type IV, alpha subunit	Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)						86.0	90.0	88.0					17																	62036708		2098	4237	6335	SO:0001583	missense	6329	0	0					g.chr17:62036708C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1936G>A	chr17.hg19:g.62036708C>T	ENSP00000396320:p.Asp646Asn	1					SCN4A_ENST00000578147.1_Missense_Mutation_p.D646N	p.D646N	NM_000334.4	NP_000325.4	3	3	6	2.384195	P35499	SCN4A_HUMAN		12	2012	-			Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	0	1	hg19	c.1936G>A	CCDS45761.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.589870	0.96590	.	.	ENSG00000007314	ENST00000435607	D	0.99376	-5.79	4.92	4.92	0.64577	4.92	4.92	0.64577	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97220	0.9877	10	0.87932	D	0	.	17.3545	0.87332	0.0:1.0:0.0:0.0	.	646	P35499	SCN4A_HUMAN	N	646	ENSP00000396320:D646N	ENSP00000396320:D646N	D	-	1	0	0	SCN4A	59390440	59390440	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.571000	0.82399	2.573000	0.86826	0.556000	0.70494	GAC	0.722691		TCGA-2J-AABI-01A-12D-A40W-08	0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	1		2	2		0		0	0	28		28	28	1	3.450000	-13.179480	1	0.540000	NM_000334			85	84		137	134	0		1			0		28			1.000000	0		0		0		85	137
NPTX1	4884	broad.mit.edu	37	17	78449379	78449379	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr17:78449379G>A	ENST00000306773.4	-	2	741	c.584C>T	c.(583-585)aCc>aTc	p.T195I	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	195					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTCTCCTCGGTGTCGTTCCT	0.652																																						ENST00000306773.4	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				11						c.(583-585)aCc>aTc		neuronal pentraxin I							53.0	40.0	45.0					17																	78449379		2202	4300	6502	SO:0001583	missense	4884	0	0					g.chr17:78449379G>A	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.584C>T	chr17.hg19:g.78449379G>A	ENSP00000307549:p.Thr195Ile	1					NPTX1_ENST00000575212.1_5'UTR	p.T195I	NM_002522.3	NP_002513.2	3	3	6	2.384195	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)	2	741	-	all_neural(118;0.0538)		B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	0	1	hg19	c.584C>T	CCDS32762.1	1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576629	0.45902	.	.	ENSG00000171246	ENST00000306773	T	0.11712	2.75	3.6	3.6	0.41247	3.6	3.6	0.41247	.	0.182364	0.46442	D	0.000283	T	0.15003	0.0362	M	0.65975	2.015	0.43622	D	0.996006	P	0.50710	0.938	B	0.41860	0.368	T	0.08868	-1.0701	10	0.54805	T	0.06	-19.859	14.5266	0.67892	0.0:0.0:1.0:0.0	.	195	Q15818	NPTX1_HUMAN	I	195	ENSP00000307549:T195I	ENSP00000307549:T195I	T	-	2	0	0	NPTX1	76063974	76063974	1.000000	0.71417	0.961000	0.40146	0.720000	0.41350	4.073000	0.57570	2.010000	0.58986	0.561000	0.74099	ACC	0.722691		TCGA-2J-AABI-01A-12D-A40W-08	0.652	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1	0	0	1		2	2		0		0	0	19		19	19	1	3.450000	-20.000000	1	0.540000				64	61		98	93	0		1	0		0		19			1.000000	0		0		1		64	98
APCDD1	147495	broad.mit.edu	37	18	10472020	10472020	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr18:10472020C>T	ENST00000355285.5	+	3	1090	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GATGTTCTACCGGCCCTCCAG	0.537																																						ENST00000355285.5	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				22						c.(736-738)Cgg>Tgg		adenomatosis polyposis coli down-regulated 1							71.0	71.0	71.0					18																	10472020		2203	4300	6503	SO:0001583	missense	147495	2	121410	38				g.chr18:10472020C>T	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.736C>T	chr18.hg19:g.10472020C>T	ENSP00000347433:p.Arg246Trp	1					APCDD1_ENST00000578882.1_Intron	p.R246W	NM_153000.4	NP_694545.1	2	2	4	2.138349				3	1090	+				Missense_Mutation	SNP	ENST00000355285.5	0	1	hg19	c.736C>T	CCDS11849.1	1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753818	0.69648	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.22539	1.95	5.3	4.43	0.53597	5.3	4.43	0.53597	.	0.049712	0.85682	D	0.000000	T	0.48840	0.1522	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55872	-0.8072	10	0.87932	D	0	-42.2491	14.5639	0.68162	0.2645:0.7355:0.0:0.0	.	246	Q8J025	APCD1_HUMAN	W	246;297	ENSP00000347433:R246W	ENSP00000347433:R246W	R	+	1	2	2	APCDD1	10462020	10462020	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	0.987000	0.29603	1.221000	0.43506	0.655000	0.94253	CGG	0.691565		TCGA-2J-AABI-01A-12D-A40W-08	0.537	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	0	0	1		2	2		0		0	0	111		111	110	1	3.450000	-19.406890	1	0.540000	NM_153000			206	204		382	376	0		1	0		0		111			1.000000	1		0		94		206	382
ABHD8	79575	broad.mit.edu	37	19	17405126	17405126	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:17405126G>A	ENST00000247706.3	-	4	1359	c.1120C>T	c.(1120-1122)Ccg>Tcg	p.P374S	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	374							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCCTCCACCGGCACAAACTTA	0.672																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3	1.000000	3.000000e-02	0.320000	0.070000	0.130000	0.268346	0.130000	0.110000																										0				9						c.(1120-1122)Ccg>Tcg		abhydrolase domain containing 8							59.0	50.0	53.0					19																	17405126		2203	4300	6503	SO:0001583	missense	79575	0	0					g.chr19:17405126G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1120C>T	chr19.hg19:g.17405126G>A	ENSP00000247706:p.Pro374Ser	1					CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.P374S	NM_024527.4	NP_078803.4	0	3	3	1.685354	Q96I13	ABHD8_HUMAN		4	1359	-			Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	0	1	hg19	c.1120C>T	CCDS12355.1	0	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273390	0.80580	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.70516	-0.49	5.28	5.28	0.74379	5.28	5.28	0.74379	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.72946	0.3524	L	0.46157	1.445	0.80722	D	1	P	0.46395	0.877	P	0.51016	0.656	T	0.69993	-0.4994	10	0.29301	T	0.29	-28.0008	16.4003	0.83639	0.0:0.0:1.0:0.0	.	374	Q96I13	ABHD8_HUMAN	S	374;320	ENSP00000247706:P374S	ENSP00000247706:P374S	P	-	1	0	0	ABHD8	17266126	17266126	1.000000	0.71417	0.996000	0.52242	0.529000	0.34654	9.385000	0.97223	2.470000	0.83445	0.655000	0.94253	CCG	0.621711		TCGA-2J-AABI-01A-12D-A40W-08	0.672	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	0	0	1		2	2		0		0	0	38		38	38	1	3.450000	-2.491874	0	0.540000	NM_024527			4	4		157	135	0		1	0		0		38			0.853119	4.243710e-01		0		49		4	157
MPV17L2	84769	broad.mit.edu	37	19	18306860	18306860	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:18306860G>A	ENST00000599612.2	+	5	716	c.616G>A	c.(616-618)Gac>Aac	p.D206N		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	206						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						CACCCGAGCAGACTGAACTGT	0.607																																						ENST00000599612.2	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				4						c.(616-618)Gac>Aac		MPV17 mitochondrial membrane protein-like 2							93.0	103.0	100.0					19																	18306860		2071	4193	6264	SO:0001583	missense	84769	0	0					g.chr19:18306860G>A	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.616G>A	chr19.hg19:g.18306860G>A	ENSP00000469836:p.Asp206Asn	1						p.D206N	NM_032683.2	NP_116072.2	0	3	3	1.630051	Q567V2	M17L2_HUMAN		5	716	+			Q96P34|Q96QA0|Q9BSG4	Missense_Mutation	SNP	ENST00000599612.2	0	1	hg19	c.616G>A	CCDS42522.1	1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675021	0.29783	.	.	ENSG00000254858	ENST00000534474;ENST00000247712	D	0.90444	-2.67	3.14	-1.29	0.09288	3.14	-1.29	0.09288	.	5.004980	0.01915	U	0.040100	D	0.86171	0.5869	L	0.43152	1.355	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.70472	-0.4862	10	0.72032	D	0.01	-0.1015	5.0135	0.14324	0.0:0.2321:0.4067:0.3611	.	206	Q567V2	M17L2_HUMAN	N	181;206	ENSP00000247712:D206N	ENSP00000247712:D206N	D	+	1	0	0	MPV17L2	18167860	18167860	0.003000	0.15002	0.000000	0.03702	0.041000	0.13682	0.037000	0.13840	-0.226000	0.09899	0.561000	0.74099	GAC	0.623383		TCGA-2J-AABI-01A-12D-A40W-08	0.607	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	0	0	1		2	2		0		0	0	46		46	46	1	3.450000	-20.000000	1	0.540000	NM_032683			91	89		68	67	0		1	1		0		46			1.000000	1		19		14		91	68
ZNF283	284349	broad.mit.edu	37	19	44351438	44351438	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr19:44351438C>T	ENST00000324461.7	+	7	982	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	ZNF283_ENST00000588797.1_Missense_Mutation_p.H90Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGAGAGAACTCATACAGCTGA	0.368																																						ENST00000324461.7	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				8						c.(685-687)Cat>Tat		zinc finger protein 283							61.0	67.0	65.0					19																	44351438		2103	4259	6362	SO:0001583	missense	284349	0	0					g.chr19:44351438C>T	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.685C>T	chr19.hg19:g.44351438C>T	ENSP00000327314:p.His229Tyr	1					ZNF283_ENST00000588797.1_Missense_Mutation_p.H90Y	p.H229Y	NM_181845.1	NP_862828.1	0	3	3	1.673749	Q8N7M2	ZN283_HUMAN		7	982	+		Prostate(69;0.0352)	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	0	1	hg19	c.685C>T	CCDS46097.1	1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878023	0.51801	.	.	ENSG00000167637	ENST00000324461	T	0.67523	-0.27	3.58	2.5	0.30297	3.58	2.5	0.30297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80396	0.4615	M	0.92268	3.29	0.80722	D	1	D	0.61697	0.99	P	0.57057	0.812	T	0.82206	-0.0572	9	0.66056	D	0.02	.	9.3577	0.38177	0.0:0.8889:0.0:0.1111	.	229	Q8N7M2	ZN283_HUMAN	Y	229	ENSP00000327314:H229Y	ENSP00000327314:H229Y	H	+	1	0	0	ZNF283	49043278	49043278	0.129000	0.22400	0.854000	0.33618	0.826000	0.46750	1.563000	0.36364	0.813000	0.34350	0.563000	0.77884	CAT	0.620869		TCGA-2J-AABI-01A-12D-A40W-08	0.368	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	0	0	1		2	2		0		0	0	87		87	86	1	3.450000	-20.000000	1	0.540000	NM_181845			177	174		152	149	0		1	1		0		87			1.000000	9.880682e-01		6		3		177	152
OR11L1	391189	broad.mit.edu	37	1	248004939	248004939	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:248004939G>A	ENST00000355784.2	-	1	315	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	87						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S87Y(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTGGCCCCAGGACAGCAGGTT	0.572																																						ENST00000355784.2	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.S87Y(1)	lung(1)	57						c.(259-261)tCc>tTc		olfactory receptor, family 11, subfamily L, member 1							70.0	59.0	62.0					1																	248004939		2203	4300	6503	SO:0001583	missense	391189	0	0					g.chr1:248004939G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.260C>T	chr1.hg19:g.248004939G>A	ENSP00000348033:p.Ser87Phe	1						p.S87F	NM_001001959.1	NP_001001959.1	3	3	6	2.312076	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)	1	315	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)			Missense_Mutation	SNP	ENST00000355784.2	0	1	hg19	c.260C>T	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	G	5.658	0.306021	0.10733	.	.	ENSG00000197591	ENST00000355784	T	0.00414	7.52	4.2	3.27	0.37495	4.2	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.474733	0.15567	U	0.255629	T	0.00440	0.0014	L	0.52823	1.66	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.41893	-0.9483	10	0.56958	D	0.05	.	13.6185	0.62123	0.0:0.4233:0.5767:0.0	.	87	Q8NGX0	O11L1_HUMAN	F	87	ENSP00000348033:S87F	ENSP00000348033:S87F	S	-	2	0	0	OR11L1	246071562	246071562	0.000000	0.05858	0.004000	0.12327	0.302000	0.27658	-0.204000	0.09425	1.093000	0.41377	0.543000	0.68304	TCC	0.713360		TCGA-2J-AABI-01A-12D-A40W-08	0.572	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	0	0	1		2	2		0		0	0	28		28	28	1	3.450000	-20.000000	1	0.540000	NM_001001959			64	63		91	90	0		1			0		28			1.000000	0		0		0		64	91
ZMYND12	84217	broad.mit.edu	37	1	42914150	42914150	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:42914150C>T	ENST00000372565.3	-	3	681	c.412G>A	c.(412-414)Gag>Aag	p.E138K	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	138						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGCTGGCCTCGGCCAACAGC	0.527																																						ENST00000372565.3	1.000000	9.900000e-01	1.000000	0.990000	0.990000	0.999999	0.990000	1.000000																										0				17						c.(412-414)Gag>Aag		zinc finger, MYND-type containing 12							59.0	54.0	56.0					1																	42914150		2203	4300	6503	SO:0001583	missense	84217	3	121410	30				g.chr1:42914150C>T	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.412G>A	chr1.hg19:g.42914150C>T	ENSP00000361646:p.Glu138Lys	1					ZMYND12_ENST00000433602.2_Intron	p.E138K	NM_032257.4	NP_115633.3	0	3	3	1.566739	Q9H0C1	ZMY12_HUMAN		3	681	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	0	1	hg19	c.412G>A	CCDS467.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983575	0.93044	.	.	ENSG00000066185	ENST00000372565	T	0.63096	-0.02	5.34	5.34	0.76211	5.34	5.34	0.76211	Tetratricopeptide-like helical (1);	0.051999	0.85682	D	0.000000	T	0.77711	0.4171	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73927	-0.3828	10	0.16896	T	0.51	-14.4689	16.5355	0.84372	0.0:1.0:0.0:0.0	.	138	Q9H0C1	ZMY12_HUMAN	K	138	ENSP00000361646:E138K	ENSP00000361646:E138K	E	-	1	0	0	ZMYND12	42686737	42686737	0.999000	0.42202	0.983000	0.44433	0.938000	0.57974	5.319000	0.65835	2.505000	0.84491	0.561000	0.74099	GAG	0.615738		TCGA-2J-AABI-01A-12D-A40W-08	0.527	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	0	0	1		2	2		0		0	0	21		21	21	1	3.450000	-20.000000	1	0.540000	NM_032257			27	27		30	30	0		1			0		21			1.000000	0		0		0		27	30
OR2M4	26245	broad.mit.edu	37	1	248403030	248403030	+	Missense_Mutation	SNP	C	C	T	rs144697226	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr1:248403030C>T	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T267M(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTAAACATACGCCAGACCAG	0.517													t|||	11	0.00219649	0.0045	0.0014	5008	,	,		18038	0.0		0.0	False		,,,				2504	0.0041					ENST00000306687.1	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.T267M(2)	large_intestine(1)|endometrium(1)	50						c.(799-801)aCg>aTg		olfactory receptor, family 2, subfamily M, member 4		T	MET/THR	29,4377	823.6+/-416.5	0,29,2174	131.0	113.0	119.0		800	1.4	0.0	1	dbSNP_134	119	1,8599	819.2+/-406.8	0,1,4299	yes	missense	OR2M4	NM_017504.1	81	0,30,6473	TT,TC,CC		0.0116,0.6582,0.2307	probably-damaging	267/312	248403030	30,12976	2203	4300	6503	SO:0001583	missense	26245	166	121412	53				g.chr1:248403030C>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.800C>T	chr1.hg19:g.248403030C>T	ENSP00000306688:p.Thr267Met	1						p.T267M	NM_017504.1	NP_059974.1	3	3	6	2.312076	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)	1	800	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	0	1	hg19	c.800C>T	CCDS31108.1	1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	t	7.287	0.610196	0.14066	0.006582	1.16E-4	ENSG00000171180	ENST00000306687	T	0.00130	8.69	3.34	1.42	0.22433	3.34	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	2.248960	0.02593	N	0.100179	T	0.00210	0.0006	L	0.45228	1.405	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.50742	-0.8792	10	0.72032	D	0.01	.	3.4528	0.07505	0.298:0.4908:0.0:0.2112	.	267	Q96R27	OR2M4_HUMAN	M	267	ENSP00000306688:T267M	ENSP00000306688:T267M	T	+	2	0	0	OR2M4	246469653	246469653	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.096000	0.11059	0.238000	0.21222	-1.215000	0.01618	ACG	0.713360		TCGA-2J-AABI-01A-12D-A40W-08	0.517	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	0	0	1		2	2		0		0	0	70		70	70	1	3.450000	-2.642100	1	0.540000	NM_017504			111	111		254	254	0		1			0		70			1.000000	0		0		0		111	254
ATRN	8455	broad.mit.edu	37	20	3562887	3562887	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:3562887C>T	ENST00000262919.5	+	16	2718	c.2650C>T	c.(2650-2652)Ccg>Tcg	p.P884S	ATRN_ENST00000446916.2_Missense_Mutation_p.P884S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	884	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ACAGTGGATGCCGTCTGAGCC	0.498																																						ENST00000262919.5	1.000000	1.000000e-02	1.000000	0.040000	0.080000	0.299645	0.080000	0.080000																										0				59						c.(2650-2652)Ccg>Tcg		attractin							111.0	103.0	106.0					20																	3562887		2203	4300	6503	SO:0001583	missense	8455	0	0					g.chr20:3562887C>T	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2650C>T	chr20.hg19:g.3562887C>T	ENSP00000262919:p.Pro884Ser	1					ATRN_ENST00000446916.2_Missense_Mutation_p.P884S	p.P884S	NM_139321.2	NP_647537.1	3	3	6	2.305998	O75882	ATRN_HUMAN		16	2718	+			A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	0	1	hg19	c.2650C>T	CCDS13053.1	0	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868766	0.91587	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.56444	0.46;0.46	5.37	5.37	0.77165	5.37	5.37	0.77165	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.109437	0.64402	D	0.000005	T	0.66096	0.2755	L	0.60067	1.865	0.80722	D	1	D;D	0.63046	0.983;0.992	P;P	0.58454	0.839;0.755	T	0.64058	-0.6496	10	0.38643	T	0.18	-4.6819	18.7331	0.91742	0.0:1.0:0.0:0.0	.	884;884	O75882;O75882-2	ATRN_HUMAN;.	S	884;884;810	ENSP00000262919:P884S;ENSP00000416587:P884S	ENSP00000262919:P884S	P	+	1	0	0	ATRN	3510887	3510887	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.763000	0.85283	2.504000	0.84457	0.650000	0.86243	CCG	0.713360		TCGA-2J-AABI-01A-12D-A40W-08	0.498	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	0	0	1		2	2		0		0	0	78		78	76	1	3.450000	-1.934915	0	0.540000	NM_139321			5	5		433	426	0		1	0		0		78			0.935199	2.294396e-01		0		66		5	433
PPP1R3D	5509	broad.mit.edu	37	20	58514231	58514231	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr20:58514231G>A	ENST00000370996.3	-	1	1121	c.756C>T	c.(754-756)cgC>cgT	p.R252R	FAM217B_ENST00000358293.3_Intron|FAM217B_ENST00000360816.3_5'Flank	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	252	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CGAAGTGCACGCGGGAGCCGA	0.677																																						ENST00000370996.3	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				13						c.(754-756)cgC>cgT		protein phosphatase 1, regulatory subunit 3D							44.0	45.0	45.0					20																	58514231		2202	4300	6502	SO:0001819	synonymous_variant	5509	1	121380	31				g.chr20:58514231G>A	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.756C>T	chr20.hg19:g.58514231G>A		1					FAM217B_ENST00000358293.3_Intron|FAM217B_ENST00000360816.3_5'Flank	p.R252R	NM_006242.3	NP_006233.1	3	3	6	2.305998	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)	1	1121	-	all_lung(29;0.00391)		Q6DK02	Silent	SNP	ENST00000370996.3	0	1	hg19	c.756C>T	CCDS13483.1	1																																																																																								0.713360		TCGA-2J-AABI-01A-12D-A40W-08	0.677	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	0	0	1		2	2		0		0	0	36		36	35	1	3.450000	-20.000000	1	0.540000	NM_006242			74	67		142	128	0		1	1		0		36			1.000000	9.982694e-01		10		12		74	142
MYO18B	84700	broad.mit.edu	37	22	26423013	26423013	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr22:26423013G>T	ENST00000407587.2	+	43	7245	c.7076G>T	c.(7075-7077)aGa>aTa	p.R2359I	MYO18B_ENST00000335473.7_Missense_Mutation_p.R2358I|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2358I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2358						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTAGAATCCAGACCGAGCATG	0.567																																						ENST00000407587.2	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				146						c.(7075-7077)aGa>aTa		myosin XVIIIB							91.0	99.0	97.0					22																	26423013		1953	4143	6096	SO:0001583	missense	84700	0	0					g.chr22:26423013G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7076G>T	chr22.hg19:g.26423013G>T	ENSP00000386096:p.Arg2359Ile	1					MYO18B_ENST00000335473.7_Missense_Mutation_p.R2358I|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2358I	p.R2359I			0	3	3	1.569244	Q8IUG5	MY18B_HUMAN		43	7245	+			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	0	1	hg19	c.7076G>T		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.108|4.108	0.018192|0.018192	0.07959|0.07959	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.86030	.|-2.04;-2.04;-2.06	4.41|4.41	1.81|1.81	0.25067|0.25067	4.41|4.41	1.81|1.81	0.25067|0.25067	.|.	.|0.581064	.|0.14856	.|N	.|0.294341	T|T	0.68183|0.68183	0.2973|0.2973	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.23442	.|0.05;0.051;0.051;0.085;0.085	.|B;B;B;B;B	.|0.21917	.|0.023;0.016;0.016;0.037;0.037	T|T	0.60464|0.60464	-0.7258|-0.7258	5|10	.|0.56958	.|D	.|0.05	.|.	6.6697|6.6697	0.23062|0.23062	0.1122:0.3446:0.5432:0.0|0.1122:0.3446:0.5432:0.0	.|.	.|1871;2360;2358;2359;2358	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	Y|I	308|2358;2358;2359	.|ENSP00000441229:R2358I;ENSP00000334563:R2358I;ENSP00000386096:R2359I	.|ENSP00000334563:R2358I	D|R	+|+	1|2	0|0	0|0	MYO18B|MYO18B	24753013|24753013	24753013|24753013	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.068000|0.068000	0.16541|0.16541	1.258000|1.258000	0.32944|0.32944	0.816000|0.816000	0.34421|0.34421	-0.502000|-0.502000	0.04539|0.04539	GAC|AGA	0.613120		TCGA-2J-AABI-01A-12D-A40W-08	0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	0	0	1		2	2		0		0	0	79		79	77	1	3.450000	-20.000000	1	0.540000	NM_032608			164	161		164	161	0		1			0		79			1.000000	0		0		0		164	164
TTN	7273	broad.mit.edu	37	2	179588862	179588862	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:179588862C>G	ENST00000591111.1	-	71	20397	c.20173G>C	c.(20173-20175)Gtt>Ctt	p.V6725L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V5798L|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V7042L|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12352					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGGAGGAACTGCTCGGTCT	0.408																																						ENST00000591111.1	1.000000	7.000000e-02	1.000000	0.120000	0.210000	0.371484	0.210000	0.170000																										0				1448						c.(20173-20175)Gtt>Ctt		titin							54.0	50.0	51.0					2																	179588862		1883	4108	5991	SO:0001583	missense	7273	0	0					g.chr2:179588862C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20173G>C	chr2.hg19:g.179588862C>G	ENSP00000465570:p.Val6725Leu	0					RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V5798L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V7042L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.V6725L			2	2	4	1.952283	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	71	20397	-			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	0	1	hg19	c.20173G>C		0	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833165	0.32421	.	.	ENSG00000155657	ENST00000342992	T	0.40225	1.04	6.02	5.14	0.70334	6.02	5.14	0.70334	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39937	0.1097	M	0.72118	2.19	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44221	-0.9342	9	0.87932	D	0	.	5.5952	0.17323	0.0:0.655:0.1794:0.1656	.	6725	Q8WZ42	TITIN_HUMAN	L	5798	ENSP00000343764:V5798L	ENSP00000343764:V5798L	V	-	1	0	0	TTN	179297107	179297107	0.999000	0.42202	0.998000	0.56505	0.883000	0.51084	3.663000	0.54518	1.538000	0.49270	0.655000	0.94253	GTT	0.662212		TCGA-2J-AABI-01A-12D-A40W-08	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1		2	2		0		0	0	24		24	24	1	3.450000	-7.820033	1	0.540000	NM_133378			5	5		143	142	0		1			0		24			0.937515	0		0		0		5	143
PSMD1	5707	broad.mit.edu	37	2	231936963	231936963	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:231936963G>A	ENST00000308696.6	+	7	877	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	PSMD1_ENST00000409643.1_Missense_Mutation_p.E239K|PSMD1_ENST00000373635.4_Missense_Mutation_p.E239K	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ACTGGTAAAGGAAGACAACCT	0.348																																						ENST00000308696.6	1.000000	1.900000e-01	0.370000	0.240000	0.290000	0.362415	0.290000	0.300000																										0				31						c.(715-717)Gaa>Aaa		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						205.0	198.0	200.0					2																	231936963		2203	4300	6503	SO:0001583	missense	5707	0	0					g.chr2:231936963G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.715G>A	chr2.hg19:g.231936963G>A	ENSP00000309474:p.Glu239Lys	1					PSMD1_ENST00000373635.4_Missense_Mutation_p.E239K|PSMD1_ENST00000409643.1_Missense_Mutation_p.E239K	p.E239K	NM_002807.3	NP_002798.2	2	2	4	2.118137	Q99460	PSMD1_HUMAN		7	877	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	0	1	hg19	c.715G>A	CCDS2482.1	0	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910516	0.33721	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.98	5.98	0.97165	5.98	5.98	0.97165	Armadillo-type fold (1);	0.042539	0.85682	D	0.000000	T	0.44685	0.1305	L	0.28504	0.86	0.80722	D	1	B;P	0.34462	0.002;0.454	B;B	0.30572	0.004;0.117	T	0.41875	-0.9484	9	0.06365	T	0.9	-21.3045	20.4581	0.99154	0.0:0.0:1.0:0.0	.	239;239	Q99460;Q99460-2	PSMD1_HUMAN;.	K	239	.	ENSP00000309474:E239K	E	+	1	0	0	PSMD1	231645207	231645207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	GAA	0.688178		TCGA-2J-AABI-01A-12D-A40W-08	0.348	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2	0	0	1		2	2		0		0	0	113		113	112	1	3.450000	-5.727164	1	0.540000				33	33		596	587	0		1	1		0		113			1.000000	8.880106e-01		3		68		33	596
CLEC4F	165530	broad.mit.edu	37	2	71043807	71043807	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:71043807C>T	ENST00000272367.2	-	4	782	c.706G>A	c.(706-708)Gca>Aca	p.A236T	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A236T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	236					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGGTATTTGCCGTTTCCAAA	0.423																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2	0.140000	0	0.100000	0.030000	0.060000	0.070402	0.060000	0.080000																										0				37						c.(706-708)Gca>Aca		C-type lectin domain family 4, member F							76.0	74.0	74.0					2																	71043807		2203	4300	6503	SO:0001583	missense	165530	0	0					g.chr2:71043807C>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.706G>A	chr2.hg19:g.71043807C>T	ENSP00000272367:p.Ala236Thr	1					CLEC4F_ENST00000426626.1_Missense_Mutation_p.A236T	p.A236T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	2	2	4	2.262592	Q8N1N0	CLC4F_HUMAN		4	782	-			A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	0	1	hg19	c.706G>A	CCDS1910.1	0	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274653	0.23307	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.52526	0.66;0.66	3.4	1.51	0.23008	3.4	1.51	0.23008	.	0.248657	0.20973	N	0.082344	T	0.37128	0.0992	L	0.56769	1.78	0.09310	N	1	B;B	0.27997	0.197;0.197	B;B	0.25759	0.063;0.063	T	0.31613	-0.9937	10	0.54805	T	0.06	.	4.0505	0.09793	0.2302:0.6437:0.0:0.126	.	236;236	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	T	236	ENSP00000272367:A236T;ENSP00000390581:A236T	ENSP00000272367:A236T	A	-	1	0	0	CLEC4F	70897315	70897315	0.001000	0.12720	0.001000	0.08648	0.040000	0.13550	1.046000	0.30354	0.403000	0.25479	0.313000	0.20887	GCA	0.701299		TCGA-2J-AABI-01A-12D-A40W-08	0.423	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	0	0	1		2	2		0		0	0	88		88	87	1	3.450000	-2.409749	0	0.540000	NM_173535			5	5		470	468	0		1			0		88			0.937154	0		0		0		5	470
AGAP1	116987	broad.mit.edu	37	2	236649676	236649676	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr2:236649676G>C	ENST00000304032.8	+	4	960	c.380G>C	c.(379-381)gGc>gCc	p.G127A	AGAP1_ENST00000336665.5_Missense_Mutation_p.G127A|AGAP1_ENST00000409538.1_Missense_Mutation_p.G392A|AGAP1_ENST00000409457.1_Missense_Mutation_p.G127A	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	127	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.G127A(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GATGAAGGGGGCCCCCCGGAG	0.488																																						ENST00000304032.8	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.G127A(1)	large_intestine(1)	41						c.(379-381)gGc>gCc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							84.0	84.0	84.0					2																	236649676		2203	4300	6503	SO:0001583	missense	116987	1	121412	31				g.chr2:236649676G>C	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.380G>C	chr2.hg19:g.236649676G>C	ENSP00000307634:p.Gly127Ala	1					AGAP1_ENST00000336665.5_Missense_Mutation_p.G127A|AGAP1_ENST00000409538.1_Missense_Mutation_p.G392A|AGAP1_ENST00000409457.1_Missense_Mutation_p.G127A	p.G127A	NM_001037131.2	NP_001032208.1	2	2	4	2.118137	Q9UPQ3	AGAP1_HUMAN		4	960	+			B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	0	1	hg19	c.380G>C	CCDS33408.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506957	0.85282	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	4.8	4.8	0.61643	4.8	4.8	0.61643	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	H	0.97783	4.075	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.85130	0.919;0.997	D	0.88806	0.3288	10	0.72032	D	0.01	.	18.2419	0.89970	0.0:0.0:1.0:0.0	.	127;127	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	A	127;127;127;74;392	ENSP00000387174:G127A;ENSP00000307634:G127A;ENSP00000338378:G127A;ENSP00000385492:G74A;ENSP00000386897:G392A	ENSP00000307634:G127A	G	+	2	0	0	AGAP1	236314415	236314415	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.687000	0.98667	2.357000	0.79964	0.561000	0.74099	GGC	0.688178		TCGA-2J-AABI-01A-12D-A40W-08	0.488	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	0	0	0		2	2		0		0	0	45		45	42	1	3.450000	-7.706843	1	0.540000	NM_014914			76	75		162	160	0		1	1		0		45			1.000000	9.999985e-01		15		32		76	162
MYLK	4638	broad.mit.edu	37	3	123385147	123385147	+	Silent	SNP	G	G	A	rs201873975		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:123385147G>A	ENST00000475616.1	-	19	3749	c.3750C>T	c.(3748-3750)cgC>cgT	p.R1250R	MYLK_ENST00000359169.1_Silent_p.R1250R|MYLK_ENST00000346322.5_Silent_p.R1181R|MYLK_ENST00000354792.5_Silent_p.R50R|MYLK_ENST00000360772.3_Silent_p.R1250R|MYLK_ENST00000360304.3_Silent_p.R1250R|MYLK_ENST00000510775.1_5'UTR			Q15746	MYLK_HUMAN	myosin light chain kinase	1250	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACTCTCCTGCGCGTACCTTCT	0.562																																						ENST00000475616.1	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				113						c.(3748-3750)cgC>cgT		myosin light chain kinase							111.0	81.0	91.0					3																	123385147		2203	4300	6503	SO:0001819	synonymous_variant	4638	29	121412	45				g.chr3:123385147G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3750C>T	chr3.hg19:g.123385147G>A		1					MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000354792.5_Silent_p.R50R|MYLK_ENST00000360772.3_Silent_p.R1250R|MYLK_ENST00000359169.1_Silent_p.R1250R|MYLK_ENST00000346322.5_Silent_p.R1181R|MYLK_ENST00000360304.3_Silent_p.R1250R	p.R1250R			2	2	4	2.210435	Q15746	MYLK_HUMAN		19	3749	-		Lung NSC(201;0.0496)	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	0	1	hg19	c.3750C>T	CCDS46896.1	1																																																																																								0.701299		TCGA-2J-AABI-01A-12D-A40W-08	0.562	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	0	0	1		2	2		0		0	0	42		42	42	1	3.450000	-20.000000	1	0.540000	NM_053025			92	92		164	165	0		1	0		0		42			1.000000	9.999993e-01		1		41		92	164
SIAH2	6478	broad.mit.edu	37	3	150460358	150460358	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:150460358T>C	ENST00000312960.3	-	2	1072	c.545A>G	c.(544-546)gAa>gGa	p.E182G		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	182	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CATCACAGCTTCCAGGGACCC	0.527																																						ENST00000312960.3	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				16						c.(544-546)gAa>gGa		siah E3 ubiquitin protein ligase 2							117.0	105.0	109.0					3																	150460358		2203	4300	6503	SO:0001583	missense	6478	0	0					g.chr3:150460358T>C	U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.545A>G	chr3.hg19:g.150460358T>C	ENSP00000322457:p.Glu182Gly	1						p.E182G	NM_005067.5	NP_005058.3	2	2	4	2.231917	O43255	SIAH2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)	2	1072	-			O43270	Missense_Mutation	SNP	ENST00000312960.3	0	1	hg19	c.545A>G	CCDS3152.1	1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.009834	0.93346	.	.	ENSG00000181788	ENST00000312960;ENST00000482706	T;T	0.26373	1.74;1.74	5.54	5.54	0.83059	5.54	5.54	0.83059	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);Seven In Absentia Homolog-type (1);Zinc finger, SIAH-type (1);	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.56769	1.78	0.80722	D	1	B	0.15473	0.013	B	0.22152	0.038	T	0.03875	-1.0996	10	0.30854	T	0.27	.	15.6746	0.77307	0.0:0.0:0.0:1.0	.	182	O43255	SIAH2_HUMAN	G	182;56	ENSP00000322457:E182G;ENSP00000417619:E56G	ENSP00000322457:E182G	E	-	2	0	0	SIAH2	151943048	151943048	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.024000	0.88770	2.094000	0.63399	0.402000	0.26972	GAA	0.701299		TCGA-2J-AABI-01A-12D-A40W-08	0.527	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	0	0	1		2	2		0		0	0	66		66	66	1	3.450000	-20.000000	1	0.540000	NM_005067			161	159		257	254	0		1	1		0		66			1.000000	1		43		86		161	257
TTC21A	199223	broad.mit.edu	37	3	39175709	39175709	+	Splice_Site	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:39175709G>A	ENST00000431162.2	+	21	2907	c.2773G>A	c.(2773-2775)Gtg>Atg	p.V925M	TTC21A_ENST00000301819.6_Splice_Site_p.V926M|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Splice_Site_p.V877M			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	925										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTGTCCCAGGTGATGCTGGA	0.547																																						ENST00000431162.2	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				50						c.(2773-2775)Gtg>Atg		tetratricopeptide repeat domain 21A							178.0	181.0	180.0					3																	39175709		1988	4156	6144	SO:0001630	splice_region_variant	199223	0	0					g.chr3:39175709G>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2773-1G>A	chr3.hg19:g.39175709G>A		1					TTC21A_ENST00000440121.1_Splice_Site_p.V877M|TTC21A_ENST00000301819.6_Splice_Site_p.V926M|TTC21A_ENST00000493856.1_3'UTR	p.V925M			0	2	2	1.464813	Q8NDW8	TT21A_HUMAN		21	2907	+			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Splice_Site	SNP	ENST00000431162.2	0	1	hg19	c.2773G>A	CCDS46800.1	1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689557	0.68271	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.38887	1.11;1.11;1.11	4.52	4.52	0.55395	4.52	4.52	0.55395	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.56097	D	0.000031	T	0.60235	0.2253	M	0.63428	1.95	0.80722	D	1	P;D;D;D	0.76494	0.911;0.995;0.999;0.998	P;P;D;D	0.69479	0.709;0.834;0.964;0.921	T	0.60515	-0.7248	9	.	.	.	-22.5503	16.1729	0.81831	0.0:0.0:1.0:0.0	.	46;877;926;925	B4DSJ5;Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;.;TT21A_HUMAN	M	926;908;925;877	ENSP00000301819:V926M;ENSP00000398211:V925M;ENSP00000410882:V877M	.	V	+	1	0	0	TTC21A	39150713	39150713	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	4.580000	0.60942	2.337000	0.79520	0.462000	0.41574	GTG	0.540000		TCGA-2J-AABI-01A-12D-A40W-08	0.547	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	0	0	1		2	2		0		0	0	205		205	204	1	3.450000	-20.000000	1	0.540000	NM_145755	Missense_Mutation		398	393		373	364	0		1	1		0		205			1.000000	5.242164e-01		2		1		398	373
SI	6476	broad.mit.edu	37	3	164709985	164709985	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr3:164709985G>A	ENST00000264382.3	-	43	5025	c.4963C>T	c.(4963-4965)Cgg>Tgg	p.R1655W		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1655	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCAAACCACCGAGCATTGGGG	0.343										HNSCC(35;0.089)																												ENST00000264382.3	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				218						c.(4963-4965)Cgg>Tgg		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)|Scopolamine(DB00747)						133.0	140.0	138.0					3																	164709985		2203	4300	6503	SO:0001583	missense	6476	1	121412	35				g.chr3:164709985G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4963C>T	chr3.hg19:g.164709985G>A	ENSP00000264382:p.Arg1655Trp	1	HNSCC(35;0.089)					p.R1655W	NM_001041.3	NP_001032.2	2	2	4	2.231917	P14410	SUIS_HUMAN		43	5025	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	0	1	hg19	c.4963C>T	CCDS3196.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579614	0.86645	.	.	ENSG00000090402	ENST00000264382	D	0.91792	-2.91	4.74	4.74	0.60224	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.93588	0.7953	M	0.85041	2.73	0.58432	D	0.999998	D	0.55800	0.973	P	0.46362	0.514	D	0.94785	0.7957	10	0.87932	D	0	.	16.0285	0.80560	0.0:0.0:1.0:0.0	.	1655	P14410	SUIS_HUMAN	W	1655	ENSP00000264382:R1655W	ENSP00000264382:R1655W	R	-	1	2	2	SI	166192679	166192679	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.905000	0.69893	2.609000	0.88269	0.655000	0.94253	CGG	0.701299		TCGA-2J-AABI-01A-12D-A40W-08	0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	0	0	1		2	2		0		0	0	215		215	214	1	3.450000	-20.000000	1	0.540000	NM_001041			284	282		590	577	0		1			0		215			1.000000	0		0		0		284	590
TACR3	6870	broad.mit.edu	37	4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T	rs553885967		TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:104511030C>T	ENST00000304883.2	-	5	1347	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	403					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.V403M(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498																																						ENST00000304883.2	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										1	Substitution - Missense(1)	p.V403M(1)	prostate(1)	51						c.(1207-1209)Gtg>Atg		tachykinin receptor 3							235.0	217.0	223.0					4																	104511030		2203	4300	6503	SO:0001583	missense	6870	3	121412	39				g.chr4:104511030C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1207G>A	chr4.hg19:g.104511030C>T	ENSP00000303325:p.Val403Met	1					RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	p.V403M	NM_001059.2	NP_001050.1	2	2	4	2.182862	P29371	NK3R_HUMAN		5	1347	-		Hepatocellular(203;0.217)	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	0	1	hg19	c.1207G>A	CCDS3664.1	1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491957	0.64074	.	.	ENSG00000169836	ENST00000304883	T	0.65732	-0.17	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.070759	0.64402	D	0.000020	T	0.64427	0.2597	M	0.75447	2.3	0.46061	D	0.998848	D	0.53462	0.96	B	0.39465	0.3	T	0.71052	-0.4704	10	0.54805	T	0.06	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	403	P29371	NK3R_HUMAN	M	403	ENSP00000303325:V403M	ENSP00000303325:V403M	V	-	1	0	0	TACR3	104730479	104730479	0.958000	0.32768	0.981000	0.43875	0.972000	0.66771	1.867000	0.39499	2.746000	0.94184	0.591000	0.81541	GTG	0.697050		TCGA-2J-AABI-01A-12D-A40W-08	0.498	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	0	0	1		2	2		0		0	0	136		136	135	1	3.450000	-20.000000	1	0.540000	NM_001059			268	265		564	558	0		1			0		136			1.000000	0		0		0		268	564
WDR17	116966	broad.mit.edu	37	4	177052717	177052717	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr4:177052717C>G	ENST00000280190.4	+	8	1154	c.998C>G	c.(997-999)tCt>tGt	p.S333C	WDR17_ENST00000507824.2_Missense_Mutation_p.S316C|WDR17_ENST00000508596.1_Missense_Mutation_p.S309C|WDR17_ENST00000393643.2_Missense_Mutation_p.S309C			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	333										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCAGTCCAATCTCCAACCAAA	0.348																																						ENST00000280190.4	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				92						c.(997-999)tCt>tGt		WD repeat domain 17							141.0	139.0	140.0					4																	177052717		2203	4300	6503	SO:0001583	missense	116966	0	0					g.chr4:177052717C>G	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.998C>G	chr4.hg19:g.177052717C>G	ENSP00000280190:p.Ser333Cys	1					WDR17_ENST00000507824.2_Missense_Mutation_p.S316C|WDR17_ENST00000393643.2_Missense_Mutation_p.S309C|WDR17_ENST00000508596.1_Missense_Mutation_p.S309C	p.S333C			2	2	4	2.182862	Q8IZU2	WDR17_HUMAN		8	1154	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	0	1	hg19	c.998C>G	CCDS3825.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.03|18.03	3.532927|3.532927	0.64972|0.64972	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.60171	.|0.25;0.27;0.21	5.44|5.44	4.57|4.57	0.56435|0.56435	5.44|5.44	4.57|4.57	0.56435|0.56435	.|WD40 repeat-like-containing domain (1);	.|0.115294	.|0.64402	.|N	.|0.000010	T|T	0.55545|0.55545	0.1927|0.1927	N|N	0.19112|0.19112	0.55|0.55	0.54753|0.54753	D|D	0.999984|0.999984	.|D;D	.|0.63046	.|0.992;0.992	.|P;P	.|0.55999	.|0.789;0.789	T|T	0.61143|0.61143	-0.7122|-0.7122	5|10	.|0.72032	.|D	.|0.01	-12.1229|-12.1229	12.5665|12.5665	0.56312|0.56312	0.1316:0.7416:0.1267:0.0|0.1316:0.7416:0.1267:0.0	.|.	.|309;333	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	V|C	82|309;309;333;316	.|ENSP00000422763:S309C;ENSP00000377258:S309C;ENSP00000280190:S333C	.|ENSP00000280190:S333C	L|S	+|+	1|2	0|0	0|0	WDR17|WDR17	177289711|177289711	177289711|177289711	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.830000|0.830000	0.47004|0.47004	2.389000|2.389000	0.44407|0.44407	1.375000|1.375000	0.46248|0.46248	0.650000|0.650000	0.86243|0.86243	CTC|TCT	0.697050		TCGA-2J-AABI-01A-12D-A40W-08	0.348	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2	0	0	1		2	2		0		0	0	82		82	81	1	3.450000	-20.000000	1	0.540000				159	157		292	291	0		1	1		0		82			1.000000	1.252541e-01		2		0		159	292
KCNN2	3781	broad.mit.edu	37	5	113699700	113699700	+	Splice_Site	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:113699700T>C	ENST00000512097.3	+	3	1600		c.e3+2		KCNN2_ENST00000507750.1_Splice_Site|KCNN2_ENST00000264773.3_Splice_Site			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2						potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GAAATACAGGTAACTTAGGTC	0.493																																						ENST00000512097.3	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				45						c.e3+2		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	Miconazole(DB01110)|Procaine(DB00721)						174.0	147.0	156.0					5																	113699700		2202	4300	6502	SO:0001630	splice_region_variant	3781	0	0					g.chr5:113699700T>C	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.582+2T>C	chr5.hg19:g.113699700T>C		1					KCNN2_ENST00000507750.1_Splice_Site|KCNN2_ENST00000264773.3_Splice_Site				2	2	4	2.240475	Q9H2S1	KCNN2_HUMAN		3	1600	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Splice_Site	SNP	ENST00000512097.3	0	1	hg19		CCDS4114.1	1	.	.	.	.	.	.	.	.	.	.	T	31	5.090072	0.94149	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	.	.	.	5.84	5.84	0.93424	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8893	0.79279	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	KCNN2	113727599	113727599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.522000	0.81844	2.243000	0.73865	0.533000	0.62120	.	0.701299		TCGA-2J-AABI-01A-12D-A40W-08	0.493	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	0	0	1		2	2		0		0	0	55		55	55	1	3.450000	-20.000000	1	0.540000	NM_021614	Intron		136	135		203	199	0		1			0		55			1.000000	0		0		0		136	203
PCDHA6	56142	broad.mit.edu	37	5	140209874	140209874	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:140209874C>T	ENST00000529310.1	+	1	2312	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	733					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGTGCACGGCGGACAAG	0.692																																						ENST00000529310.1	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				89						c.(2197-2199)aCg>aTg		protocadherin alpha 6							45.0	45.0	45.0					5																	140209874		2203	4298	6501	SO:0001583	missense	56142	0	0					g.chr5:140209874C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2198C>T	chr5.hg19:g.140209874C>T	ENSP00000433378:p.Thr733Met	1					PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	p.T733M	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	2	2	4	2.240475	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2312	+			O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	0	1	hg19	c.2198C>T	CCDS47281.1	1	.	.	.	.	.	.	.	.	.	.	C	6.587	0.476729	0.12521	.	.	ENSG00000081842	ENST00000529310	T	0.12039	2.72	4.12	-3.39	0.04868	4.12	-3.39	0.04868	.	0.708972	0.11240	U	0.584704	T	0.07818	0.0196	L	0.36672	1.1	0.09310	N	0.999999	B;P	0.38395	0.285;0.629	B;B	0.33890	0.128;0.172	T	0.15780	-1.0425	10	0.46703	T	0.11	.	4.197	0.10448	0.1561:0.394:0.3432:0.1068	.	733;733	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	M	733	ENSP00000433378:T733M	ENSP00000433378:T733M	T	+	2	0	0	PCDHA6	140190058	140190058	0.733000	0.28132	0.002000	0.10522	0.004000	0.04260	0.878000	0.28126	-0.870000	0.04047	0.306000	0.20318	ACG	0.701299		TCGA-2J-AABI-01A-12D-A40W-08	0.692	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	0	0	1		2	2		0		0	0	73		73	73	1	3.450000	-12.183100	1	0.540000	NM_018909			109	107		208	206	0		1			0		73			1.000000	0		0		0		109	208
PCDHA12	56137	broad.mit.edu	37	5	140257253	140257253	+	Silent	SNP	C	C	T			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr5:140257253C>T	ENST00000398631.2	+	1	2196	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	732					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCCGGTGCGCGCCGGGCA	0.677																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				78						c.(2194-2196)tgC>tgT		protocadherin alpha 12							27.0	27.0	27.0					5																	140257253		2201	4298	6499	SO:0001819	synonymous_variant	56137	0	0					g.chr5:140257253C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2196C>T	chr5.hg19:g.140257253C>T		1					PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron	p.C732C	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	2	2	4	2.240475	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	2196	+			O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	0	1	hg19	c.2196C>T	CCDS47285.1	1																																																																																								0.701299		TCGA-2J-AABI-01A-12D-A40W-08	0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	0	0	1		2	2		0		0	0	40		40	40	1	3.450000	-20.000000	1	0.540000	NM_018903			75	73		129	128	0		1			0		40			1.000000	0		0		0		75	129
COL1A2	1278	broad.mit.edu	37	7	94040236	94040236	+	Silent	SNP	T	T	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr7:94040236T>C	ENST00000297268.6	+	22	1704	c.1233T>C	c.(1231-1233)gaT>gaC	p.D411D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	411					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGAGCTGATGGCAGAGCTG	0.463										HNSCC(75;0.22)																												ENST00000297268.6	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																									COL1A2/PLAG1(3)	0				115						c.(1231-1233)gaT>gaC		collagen, type I, alpha 2	Collagenase(DB00048)						156.0	151.0	153.0					7																	94040236		2203	4300	6503	SO:0001819	synonymous_variant	1278	0	0					g.chr7:94040236T>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1233T>C	chr7.hg19:g.94040236T>C		1	HNSCC(75;0.22)					p.D411D	NM_000089.3	NP_000080.2	3	3	6	2.291612	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)	22	1704	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	0	1	hg19	c.1233T>C	CCDS34682.1	1																																																																																								0.711418		TCGA-2J-AABI-01A-12D-A40W-08	0.463	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	0	0	1		2	2		0		0	0	69		69	68	1	3.450000	-20.000000	1	0.540000	NM_000089			143	140		288	285	0		1	0		0		69			1.000000	1		1		3072		143	288
CACNA1B	774	broad.mit.edu	37	9	141015982	141015982	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chr9:141015982G>A	ENST00000371372.1	+	47	6696	c.6551G>A	c.(6550-6552)cGc>cAc	p.R2184H	CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2185H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2182H|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R1378H|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2183H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2184					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCCCCGGCCGCGGTGGGCGG	0.612																																						ENST00000371372.1	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				80						c.(6550-6552)cGc>cAc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)						30.0	35.0	33.0					9																	141015982		1930	4112	6042	SO:0001583	missense	774	4	120766	35				g.chr9:141015982G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6551G>A	chr9.hg19:g.141015982G>A	ENSP00000360423:p.Arg2184His	1					CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R1378H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2185H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2182H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2183H	p.R2184H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	3	3	6	2.402753	Q00975	CAC1B_HUMAN		47	6696	+	all_cancers(76;0.166)		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	0	1	hg19	c.6551G>A	CCDS59522.1	1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484890	0.63962	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.99005	-5.0;-5.32;-5.02;-5.01;-4.99	5.0	5.0	0.66597	5.0	5.0	0.66597	.	0.199712	0.44688	D	0.000428	D	0.99242	0.9736	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99624	1.0984	10	0.87932	D	0	.	18.2798	0.90096	0.0:0.0:1.0:0.0	.	2183;2182	B1AQK7;B1AQK6	.;.	H	2184;1378;2182;2183;2185	ENSP00000360423:R2184H;ENSP00000277549:R1378H;ENSP00000360414:R2182H;ENSP00000360408:R2183H;ENSP00000360406:R2185H	ENSP00000277549:R1378H	R	+	2	0	0	CACNA1B	140135803	140135803	1.000000	0.71417	0.930000	0.37139	0.248000	0.25809	9.166000	0.94766	2.319000	0.78375	0.561000	0.74099	CGC	0.724485		TCGA-2J-AABI-01A-12D-A40W-08	0.612	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	0	0	1		2	2		0		0	0	12		12	12	1	3.450000	-20.000000	1	0.540000	NM_000718			46	45		106	102	0		1			0		12			1.000000	0		0		0		46	106
NOX1	27035	broad.mit.edu	37	X	100118509	100118509	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:100118509G>A	ENST00000372966.3	-	3	422	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	NOX1_ENST00000217885.5_Missense_Mutation_p.R73C|NOX1_ENST00000372960.4_Intron|NOX1_ENST00000372964.1_Missense_Mutation_p.R73C	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	73	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AGCAGATTGCGACACACAGGA	0.517																																						ENST00000372966.3	1.000000	9.300000e-01	1.000000	0.990000	0.990000	0.996063	0.990000	1.000000																										0				7						c.(217-219)Cgc>Tgc		NADPH oxidase 1							99.0	76.0	84.0					X																	100118509		2203	4299	6502	SO:0001583	missense	27035	0	0					g.chrX:100118509G>A	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.217C>T	chrX.hg19:g.100118509G>A	ENSP00000362057:p.Arg73Cys						NOX1_ENST00000372964.1_Missense_Mutation_p.R73C|NOX1_ENST00000217885.5_Missense_Mutation_p.R73C|NOX1_ENST00000372960.4_Intron	p.R73C	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	0	1	1		Q9Y5S8	NOX1_HUMAN		3	422	-			A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	0	1	hg19	c.217C>T	CCDS14474.1	1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422237	0.25639	.	.	ENSG00000007952	ENST00000372966;ENST00000372964;ENST00000372961;ENST00000217885	D;D;D	0.99803	-4.9;-6.82;-5.03	3.91	0.862	0.19056	3.91	0.862	0.19056	Flavoprotein transmembrane component (1);	0.136302	0.47852	D	0.000201	D	0.99771	0.9906	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98834	1.0752	10	0.87932	D	0	-0.0256	5.4438	0.16523	0.2038:0.0:0.6362:0.16	.	73;73	Q9Y5S8-3;Q9Y5S8	.;NOX1_HUMAN	C	73	ENSP00000362057:R73C;ENSP00000362055:R73C;ENSP00000217885:R73C	ENSP00000217885:R73C	R	-	1	0	0	NOX1	100005165	100005165	1.000000	0.71417	0.411000	0.26484	0.070000	0.16714	2.963000	0.49184	0.289000	0.22422	0.594000	0.82650	CGC	0.540000		TCGA-2J-AABI-01A-12D-A40W-08	0.517	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	0	0	1		2	2		0		0	0	39		39	39	1	3.450000	-20.000000	1	0.540000	NM_007052			69	69		152	150	0		1	0		0		39			1.000000	0		0		1		69	152
MCF2	4168	broad.mit.edu	37	X	138701810	138701810	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:138701810G>C	ENST00000370576.4	-	7	952	c.743C>G	c.(742-744)aCa>aGa	p.T248R	MCF2_ENST00000370573.4_Missense_Mutation_p.T248R|MCF2_ENST00000520602.1_Missense_Mutation_p.T308R|MCF2_ENST00000338585.6_Missense_Mutation_p.T248R|MCF2_ENST00000519895.1_Missense_Mutation_p.T308R|MCF2_ENST00000536274.1_Missense_Mutation_p.T209R|MCF2_ENST00000414978.1_Missense_Mutation_p.T308R|MCF2_ENST00000370578.4_Missense_Mutation_p.T393R	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	248					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TATAGTCCCTGTTACATCAGC	0.284																																						ENST00000370576.4	1.000000	8.500000e-01	1.000000	0.930000	0.990000	0.977913	0.990000	1.000000																										0				62						c.(742-744)aCa>aGa		MCF.2 cell line derived transforming sequence							36.0	34.0	34.0					X																	138701810		2202	4283	6485	SO:0001583	missense	4168	1	121138	23				g.chrX:138701810G>C		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.743C>G	chrX.hg19:g.138701810G>C	ENSP00000359608:p.Thr248Arg						MCF2_ENST00000370573.4_Missense_Mutation_p.T248R|MCF2_ENST00000414978.1_Missense_Mutation_p.T308R|MCF2_ENST00000338585.6_Missense_Mutation_p.T248R|MCF2_ENST00000519895.1_Missense_Mutation_p.T308R|MCF2_ENST00000536274.1_Missense_Mutation_p.T209R|MCF2_ENST00000370578.4_Missense_Mutation_p.T393R|MCF2_ENST00000520602.1_Missense_Mutation_p.T308R	p.T248R	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	0	1	1		P10911	MCF2_HUMAN		7	952	-	Acute lymphoblastic leukemia(192;0.000127)		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	0	1	hg19	c.743C>G	CCDS14667.1	1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419335	0.62622	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.2	4.28	0.50868	5.2	4.28	0.50868	.	0.268520	0.41194	D	0.000929	T	0.45538	0.1347	L	0.44542	1.39	0.28183	N	0.928068	B;P;B;B;B;B;P;B	0.43578	0.06;0.713;0.1;0.06;0.391;0.06;0.811;0.271	B;P;B;B;B;B;P;B	0.51385	0.171;0.467;0.32;0.171;0.32;0.171;0.668;0.171	T	0.40683	-0.9550	10	0.66056	D	0.02	.	10.2406	0.43310	0.0:0.3351:0.6649:0.0	.	308;393;209;248;248;393;248;248	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	R	308;248;209;393;308;308;248;248	ENSP00000427745:T308R;ENSP00000359608:T248R;ENSP00000438155:T209R;ENSP00000359610:T393R;ENSP00000397055:T308R;ENSP00000430276:T308R;ENSP00000359605:T248R;ENSP00000342204:T248R	ENSP00000342204:T248R	T	-	2	0	0	MCF2	138529476	138529476	0.999000	0.42202	0.669000	0.29828	0.947000	0.59692	2.673000	0.46858	2.309000	0.77851	0.600000	0.82982	ACA	0.540000		TCGA-2J-AABI-01A-12D-A40W-08	0.284	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	0	0	1		2	2		0		0	0	72		72	71	1	3.450000	-20.000000	1	0.540000	NM_005369			99	97		258	254	0		1			0		72			1.000000	0		0		0		99	258
MAGEB2	4113	broad.mit.edu	37	X	30236744	30236744	+	Missense_Mutation	SNP	G	G	A	rs151181148	byFrequency	TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:30236744G>A	ENST00000378988.4	+	2	148	c.47G>A	c.(46-48)cGc>cAc	p.R16H		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	16										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGAAACGCCGCAAGGCCCGA	0.542													G|||	5	0.0013245	0.0	0.0	3775	,	,		13562	0.0		0.0	False		,,,				2504	0.0051					ENST00000378988.4	0.210000	2.000000e-02	0.150000	0.050000	0.090000	0.107725	0.090000	0.090000																										0				23						c.(46-48)cGc>cAc		melanoma antigen family B, 2							40.0	38.0	39.0					X																	30236744		2202	4300	6502	SO:0001583	missense	4113	52	121406	47				g.chrX:30236744G>A	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.47G>A	chrX.hg19:g.30236744G>A	ENSP00000368273:p.Arg16His							p.R16H	NM_002364.4	NP_002355.2	0	1	1		O15479	MAGB2_HUMAN		2	148	+			O75860	Missense_Mutation	SNP	ENST00000378988.4	0	1	hg19	c.47G>A	CCDS14219.1	0	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770406	0.15983	.	.	ENSG00000099399	ENST00000378988	T	0.04862	3.54	3.43	-3.36	0.04913	3.43	-3.36	0.04913	Melanoma associated antigen, MAGE, N-terminal (1);	0.346074	0.24848	N	0.035101	T	0.03136	0.0092	L	0.28344	0.845	0.09310	N	1	P	0.35307	0.494	B	0.29077	0.098	T	0.45877	-0.9231	10	0.11794	T	0.64	.	10.3334	0.43835	0.7538:0.0:0.2462:0.0	.	16	O15479	MAGB2_HUMAN	H	16	ENSP00000368273:R16H	ENSP00000368273:R16H	R	+	2	0	0	MAGEB2	30146665	30146665	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.865000	0.04250	-1.207000	0.02637	-1.144000	0.01866	CGC	0.540000		TCGA-2J-AABI-01A-12D-A40W-08	0.542	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	0	0	1		2	2		0		0	0	36		36	34	1	3.450000	-3.112261	1	0.540000	NM_002364			4	4		165	162	0		1	0		0		36			0.887083	5.795473e-03		0		4		4	165
MAGEA12	4111	broad.mit.edu	37	X	151900345	151900345	+	Silent	SNP	G	G	A			TCGA-2J-AABI-01A-12D-A40W-08	TCGA-2J-AABI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2302cbe-fe11-47fd-be89-8cead196d8bf	038a33b6-8619-4898-b9f2-9ac9144654c2	g.chrX:151900345G>A	ENST00000357916.4	-	2	611	c.456C>T	c.(454-456)agC>agT	p.S152S	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.S152S|CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393900.3_Silent_p.S152S|CSAG1_ENST00000452779.2_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	152	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGGCTTTGCTGAAGATCA	0.532																																						ENST00000357916.4	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				28						c.(454-456)agC>agT		melanoma antigen family A, 12							144.0	138.0	140.0					X																	151900345		2203	4300	6503	SO:0001819	synonymous_variant	4111	0	0					g.chrX:151900345G>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.456C>T	chrX.hg19:g.151900345G>A							CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393900.3_Silent_p.S152S|CSAG1_ENST00000370291.2_5'Flank|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.S152S|CSAG1_ENST00000452779.2_5'Flank	p.S152S	NM_005367.5	NP_005358.2	0	1	1		P43365	MAGAC_HUMAN		2	611	-	Acute lymphoblastic leukemia(192;6.56e-05)		Q9NSD3	Silent	SNP	ENST00000357916.4	0	1	hg19	c.456C>T	CCDS14710.1	1																																																																																								0.540000		TCGA-2J-AABI-01A-12D-A40W-08	0.532	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	0	0	1		2	2		0		0	0	252		252	249	1	3.450000	-20.000000	1	0.540000	NM_005367			359	356		639	631	0		1			0		252			1.000000	0		0		0		359	639
