#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr17:7578394T>G	ENST00000269305.4	-	5	725	c.536A>C	c.(535-537)cAt>cCt	p.H179P	TP53_ENST00000455263.2_Missense_Mutation_p.H179P|TP53_ENST00000359597.4_Missense_Mutation_p.H179P|TP53_ENST00000420246.2_Missense_Mutation_p.H179P|TP53_ENST00000413465.2_Missense_Mutation_p.H179P|TP53_ENST00000445888.2_Missense_Mutation_p.H179P|TP53_ENST00000574684.1_5'UTR	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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						c.(535-537)cAt>cCt	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>G	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.536A>C	17.37:g.7578394T>G	ENSP00000269305:p.His179Pro	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_ENST00000413465.2_Missense_Mutation_p.H179P|TP53_ENST00000455263.2_Missense_Mutation_p.H179P|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179P|TP53_ENST00000445888.2_Missense_Mutation_p.H179P|TP53_ENST00000359597.4_Missense_Mutation_p.H179P	p.H179P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.645497	0.87859	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99910	-7.88;-7.88;-7.88;-7.88;-7.88;-7.88;-7.88;-7.88	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	B;D;D;D;B;D;D	0.89917	0.062;1.0;0.993;1.0;0.274;1.0;0.998	B;D;D;D;P;D;D	0.97110	0.191;0.999;0.979;1.0;0.655;0.998;0.987	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179P;ENSP00000352610:H179P;ENSP00000269305:H179P;ENSP00000398846:H179P;ENSP00000391127:H179P;ENSP00000391478:H179P;ENSP00000425104:H47P;ENSP00000423862:H86P	ENSP00000269305:H179P	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	37	0	0	0	0.520397	0	17	37				
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs376870088		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196									tubulin, beta pseudogene 5									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687																																						ENST00000503395.1																			1	Substitution - Missense(1)	p.R77H(1)	urinary_tract(1)																																																643224							g.chr9:141070116G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070116G>A														0	1196	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.687	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		5	81	0	0	0	0.217242	0	5	81				
IGFBP5	3488	broad.mit.edu	37	2	217543684	217543684	+	Silent	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:217543684C>T	ENST00000233813.4	-	2	1205	c.456G>A	c.(454-456)gtG>gtA	p.V152V		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	152					cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCCTTCTTCACTGCTTCAG	0.597																																						ENST00000233813.4																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(454-456)gtG>gtA		insulin-like growth factor binding protein 5							131.0	119.0	123.0					2																	217543684		2203	4300	6503	SO:0001819	synonymous_variant	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217543684C>T		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.456G>A	2.37:g.217543684C>T							p.V152V	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	1205	-		Renal(323;0.0822)	152					Q5U0A3	Silent	SNP	ENST00000233813.4	37	c.456G>A	CCDS2405.1																																																																																				0.597	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		29	37	0	0	0	0.717897	0	29	37				
MAGEC3	139081	broad.mit.edu	37	X	140985590	140985590	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:140985590T>C	ENST00000298296.1	+	8	1904	c.1904T>C	c.(1903-1905)gTc>gCc	p.V635A	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000536088.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	635	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCAGTGTCATGTCCACC	0.517																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1903-1905)gTc>gCc		melanoma antigen family C, 3							71.0	60.0	63.0					X																	140985590		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140985590T>C	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1904T>C	X.37:g.140985590T>C	ENSP00000298296:p.Val635Ala					MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR	p.V635A	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			8	1904	+	Acute lymphoblastic leukemia(192;6.56e-05)		635			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1904T>C	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	t	3.295	-0.144059	0.06627	.	.	ENSG00000165509	ENST00000298296	T	0.03212	4.01	0.731	0.731	0.18277	.	.	.	.	.	T	0.02119	0.0066	N	0.16066	0.365	0.09310	N	1	B	0.18013	0.025	B	0.17979	0.02	T	0.49254	-0.8959	8	0.11182	T	0.66	.	.	.	.	.	635	Q8TD91	MAGC3_HUMAN	A	635	ENSP00000298296:V635A	ENSP00000298296:V635A	V	+	2	0	MAGEC3	140813256	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	-0.408000	0.07169	0.503000	0.28060	0.150000	0.16122	GTC		0.517	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		24	43	0	0	0	0.681144	0	24	43				
MFN1	55669	broad.mit.edu	37	3	179080166	179080166	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr3:179080166T>A	ENST00000471841.1	+	5	558	c.432T>A	c.(430-432)caT>caA	p.H144Q	MFN1_ENST00000280653.7_Missense_Mutation_p.H144Q|MFN1_ENST00000263969.5_Missense_Mutation_p.H144Q	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	144	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AACTGGCCCATGCCCTTCACA	0.368																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(430-432)caT>caA		mitofusin 1							104.0	98.0	100.0					3																	179080166		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179080166T>A	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.432T>A	3.37:g.179080166T>A	ENSP00000420617:p.His144Gln					MFN1_ENST00000263969.5_Missense_Mutation_p.H144Q|MFN1_ENST00000280653.7_Missense_Mutation_p.H144Q	p.H144Q	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		5	558	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		144					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.432T>A	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193160	0.58017	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969;ENST00000474903	D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03	5.54	1.49	0.22878	Dynamin, GTPase domain (1);	0.109197	0.64402	D	0.000002	D	0.97065	0.9041	M	0.77616	2.38	0.58432	D	0.999996	D;D	0.69078	0.997;0.978	D;P	0.67900	0.954;0.861	D	0.94822	0.7988	10	0.36615	T	0.2	-9.9587	9.4462	0.38699	0.0:0.2194:0.0:0.7806	.	172;144	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	Q	144;144;144;144;144;7	ENSP00000420617:H144Q;ENSP00000280653:H144Q;ENSP00000419134:H144Q;ENSP00000263969:H144Q;ENSP00000419926:H7Q	ENSP00000263969:H144Q	H	+	3	2	MFN1	180562860	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.378000	0.20569	0.077000	0.16863	0.533000	0.62120	CAT		0.368	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		47	34	0	0	0	0.864702	0	47	34				
MUC16	94025	broad.mit.edu	37	19	9085093	9085093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr19:9085093G>T	ENST00000397910.4	-	1	6925	c.6722C>A	c.(6721-6723)tCa>tAa	p.S2241*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2241	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCCCATCTGAAGGTGTGTC	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6721-6723)tCa>tAa		mucin 16, cell surface associated							107.0	103.0	104.0					19																	9085093		1964	4170	6134	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085093G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6722C>A	19.37:g.9085093G>T	ENSP00000381008:p.Ser2241*						p.S2241*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6925	-			2241			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.6722C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	46	12.718575	0.99690	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	2241	.	ENSP00000381008:S2241X	S	-	2	0	MUC16	8946093	0.044000	0.20184	0.040000	0.18447	0.042000	0.13812	0.364000	0.20325	0.300000	0.22699	0.305000	0.20034	TCA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	24	1	0	0.000151284	0.435327	0.000162702	13	24				
C1orf159	54991	broad.mit.edu	37	1	1019763	1019763	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr1:1019763C>T	ENST00000379339.1	-	11	790	c.580G>A	c.(580-582)Gct>Act	p.A194T	C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379319.1_Splice_Site_p.A158T|C1orf159_ENST00000448924.1_Splice_Site_p.A194T|C1orf159_ENST00000294576.5_Splice_Site_p.A158T|C1orf159_ENST00000379320.1_Splice_Site_p.A158T|C1orf159_ENST00000421241.2_Splice_Site_p.A158T			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	194						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ATCATTGCAGCCTTGAAAAGG	0.622																																						ENST00000448924.1																			0											c.e10-1		chromosome 1 open reading frame 159							30.0	31.0	31.0					1																	1019763		2199	4298	6497	SO:0001630	splice_region_variant	54991					integral to membrane		g.chr1:1019763C>T	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.580-1G>A	1.37:g.1019763C>T						C1orf159_ENST00000421241.2_Splice_Site_p.A158_splice|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000379339.1_Splice_Site_p.A194_splice|C1orf159_ENST00000379320.1_Splice_Site_p.A158_splice|C1orf159_ENST00000294576.5_Splice_Site_p.A158_splice|C1orf159_ENST00000379319.1_Splice_Site_p.A158_splice	p.A194_splice			Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	10	1011	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	194					B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Splice_Site	SNP	ENST00000379339.1	37	c.579_splice		.	.	.	.	.	.	.	.	.	.	C	15.78	2.934522	0.52866	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999	.	.	.	3.66	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	0.982;1.0;1.0;1.0	P;D;D;D	0.83275	0.78;0.996;0.984;0.996	T	0.72649	-0.4229	9	0.72032	D	0.01	-24.8515	9.3195	0.37955	0.0:0.7794:0.2205:0.0	.	158;194;158;158	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9	.;CA159_HUMAN;.;.	T	194;194;158;158;158;158;158;169	.	ENSP00000294576:A158T	A	-	1	0	C1orf159	1009626	0.190000	0.23276	0.982000	0.44146	0.931000	0.56810	1.653000	0.37323	2.029000	0.59856	0.561000	0.74099	GCT		0.622	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891	Missense_Mutation	7	16	0	0	0	0.248553	0	7	16				
SCN2A	6326	broad.mit.edu	37	2	166245201	166245201	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:166245201C>T	ENST00000375437.2	+	27	5175	c.4885C>T	c.(4885-4887)Cgt>Tgt	p.R1629C	SCN2A_ENST00000283256.6_Missense_Mutation_p.R1629C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1629C|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1629C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1629			R -> L (in EIEE11). {ECO:0000269|PubMed:23935176}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCGAGTGATCCGTCTTGCCAG	0.433																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4885-4887)Cgt>Tgt		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						110.0	111.0	111.0					2																	166245201		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245201C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4885C>T	2.37:g.166245201C>T	ENSP00000364586:p.Arg1629Cys					SCN2A_ENST00000375427.2_Missense_Mutation_p.R1629C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1629C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1629C	p.R1629C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			27	5175	+			1629					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4885C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319556	0.60524	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99691	0.9883	H	0.99946	5.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.977	D	0.96880	0.9645	10	0.87932	D	0	.	19.8035	0.96518	0.0:1.0:0.0:0.0	.	1629;1629	Q99250-2;Q99250	.;SCN2A_HUMAN	C	1629	ENSP00000364586:R1629C;ENSP00000349973:R1629C;ENSP00000283256:R1629C;ENSP00000364576:R1629C	ENSP00000283256:R1629C	R	+	1	0	SCN2A	165953447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.813000	0.55636	2.751000	0.94390	0.552000	0.68991	CGT		0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		19	59	0	0	0	0.654019	0	19	59				
CWC22	57703	broad.mit.edu	37	2	180830667	180830667	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:180830667T>C	ENST00000410053.3	-	12	1552	c.1253A>G	c.(1252-1254)gAt>gGt	p.D418G	CWC22_ENST00000295749.6_Missense_Mutation_p.D418G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	418					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ACTCCCAGCATCCTGGTCTGT	0.363																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(1252-1254)gAt>gGt		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							93.0	90.0	91.0					2																	180830667		1883	4110	5993	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180830667T>C		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1253A>G	2.37:g.180830667T>C	ENSP00000387006:p.Asp418Gly					CWC22_ENST00000295749.6_Missense_Mutation_p.D418G	p.D418G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			12	1552	-			418					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.1253A>G	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.835061	0.32421	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.25250	2.1;2.39;1.81	5.92	4.73	0.59995	.	0.345242	0.36703	N	0.002443	T	0.16599	0.0399	N	0.21142	0.635	0.36527	D	0.870528	B	0.12630	0.006	B	0.10450	0.005	T	0.13202	-1.0518	10	0.18710	T	0.47	-15.7381	11.2916	0.49254	0.0:0.0728:0.0:0.9272	.	418	Q9HCG8	CWC22_HUMAN	G	418	ENSP00000387006:D418G;ENSP00000295749:D418G;ENSP00000384159:D418G	ENSP00000295749:D418G	D	-	2	0	CWC22	180538912	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.132000	0.57977	1.015000	0.39444	0.528000	0.53228	GAT		0.363	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		11	29	0	0	0	0.457914	0	11	29				
CEP120	153241	broad.mit.edu	37	5	122725742	122725742	+	Silent	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:122725742C>T	ENST00000306467.5	-	8	1435	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	CEP120_ENST00000306481.6_Silent_p.G351G|CEP120_ENST00000328236.5_Silent_p.G377G			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	377					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GTGATTTTGGCCCAGTAAGTG	0.393																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1129-1131)ggG>ggA		centrosomal protein 120kDa							170.0	156.0	160.0					5																	122725742		1896	4122	6018	SO:0001819	synonymous_variant	153241					centrosome		g.chr5:122725742C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1131G>A	5.37:g.122725742C>T						CEP120_ENST00000306481.6_Silent_p.G351G|CEP120_ENST00000328236.5_Silent_p.G377G	p.G377G			Q8N960	CE120_HUMAN			8	1435	-			377					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Silent	SNP	ENST00000306467.5	37	c.1131G>A	CCDS4134.2																																																																																				0.393	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		3	41	0	0	0	0.115264	0	3	41				
SLIT2	9353	broad.mit.edu	37	4	20544192	20544192	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr4:20544192G>A	ENST00000504154.1	+	21	2471	c.2219G>A	c.(2218-2220)tGt>tAt	p.C740Y	SLIT2_ENST00000273739.5_Missense_Mutation_p.C744Y|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.C736Y|SLIT2_ENST00000503823.1_Missense_Mutation_p.C732Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	740	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTCGTCCGATGTAGCAACAAG	0.418																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(2218-2220)tGt>tAt		slit homolog 2 (Drosophila)							307.0	288.0	295.0					4																	20544192		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20544192G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2219G>A	4.37:g.20544192G>A	ENSP00000422591:p.Cys740Tyr					SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.C736Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.C744Y|SLIT2_ENST00000503823.1_Missense_Mutation_p.C732Y	p.C740Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			21	2471	+			740			LRRNT 4.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2219G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230258	0.79688	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.99985	-11.65;-11.65;-11.65;-11.65	5.66	5.66	0.87406	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99988	0.9998	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.99983	1.2881	10	0.66056	D	0.02	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	732;740	O94813-3;O94813	.;SLIT2_HUMAN	Y	732;740;744;736;736	ENSP00000427548:C732Y;ENSP00000422591:C740Y;ENSP00000273739:C744Y;ENSP00000422261:C736Y	ENSP00000273739:C744Y	C	+	2	0	SLIT2	20153290	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	9.476000	0.97823	2.669000	0.90835	0.655000	0.94253	TGT		0.418	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			91	158	0	0	0	0.870114	0	91	158				
TFRC	7037	broad.mit.edu	37	3	195789750	195789750	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr3:195789750G>A	ENST00000360110.4	-	12	1548	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L	TFRC_ENST00000465288.1_5'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.S379L|TFRC_ENST00000535031.1_Missense_Mutation_p.S178L|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.S460L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	460					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	GGCACCAACCGATCCAAAGTC	0.448			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1378-1380)tCg>tTg		transferrin receptor							89.0	86.0	87.0					3																	195789750		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195789750G>A	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1379C>T	3.37:g.195789750G>A	ENSP00000353224:p.Ser460Leu					TFRC_ENST00000420415.1_Missense_Mutation_p.S379L|TFRC_ENST00000465288.1_5'UTR|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.S178L|TFRC_ENST00000392396.3_Missense_Mutation_p.S460L	p.S460L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	12	1548	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		460					D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.1379C>T	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416405	0.83449	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.52	5.52	0.82312	Peptidase M28 (1);	0.249254	0.48767	D	0.000163	T	0.23133	0.0559	N	0.02379	-0.575	0.80722	D	1	D	0.69078	0.997	P	0.58721	0.844	T	0.08534	-1.0717	10	0.02654	T	1	-17.7235	18.3643	0.90385	0.0:0.0:1.0:0.0	.	460	P02786	TFR1_HUMAN	L	460;379;460;178	ENSP00000353224:S460L;ENSP00000390133:S379L;ENSP00000376197:S460L;ENSP00000437753:S178L	ENSP00000353224:S460L	S	-	2	0	TFRC	197274147	1.000000	0.71417	0.965000	0.40720	0.872000	0.50106	4.211000	0.58507	2.761000	0.94854	0.591000	0.81541	TCG		0.448	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			26	53	0	0	0	0.706142	0	26	53				
NOTCH1	4851	broad.mit.edu	37	9	139397707	139397707	+	Silent	SNP	G	G	A	rs10521	byFrequency	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr9:139397707G>A	ENST00000277541.6	-	27	5169	c.5094C>T	c.(5092-5094)gaC>gaT	p.D1698D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1698					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1699D(11)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGCGGCCACGTCGGTGGCAC	0.632			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			G|||	2772	0.553514	0.5552	0.5115	5008	,	,		17626	0.9018		0.4046	False		,,,				2504	0.3753					ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		11	Substitution - coding silent(11)	p.D1699D(11)	haematopoietic_and_lymphoid_tissue(11)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5092-5094)gaC>gaT		notch 1		G		2208,2062		587,1034,514	57.0	67.0	64.0		5094	-4.9	0.8	9	dbSNP_52	64	3010,5508		545,1920,1794	no	coding-synonymous	NOTCH1	NM_017617.3		1132,2954,2308	AA,AG,GG		35.3369,48.2904,40.8039		1698/2556	139397707	5218,7570	2135	4259	6394	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139397707G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5094C>T	9.37:g.139397707G>A		HNSCC(8;0.001)					p.D1698D	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	27	5169	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1698					Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.5094C>T	CCDS43905.1																																																																																				0.632	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	51	0	0	0	0.115264	0	3	51				
MAGEC1	9947	broad.mit.edu	37	X	140994879	140994879	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:140994879C>G	ENST00000285879.4	+	4	1975	c.1689C>G	c.(1687-1689)taC>taG	p.Y563*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	563										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCACTACTTTCCTCAGA	0.572										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1687-1689)taC>taG		melanoma antigen family C, 1							231.0	249.0	243.0					X																	140994879		2203	4300	6503	SO:0001587	stop_gained	9947						protein binding	g.chrX:140994879C>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1689C>G	X.37:g.140994879C>G	ENSP00000285879:p.Tyr563*	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.Y563*	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1975	+	Acute lymphoblastic leukemia(192;6.56e-05)		563					A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	ENST00000285879.4	37	c.1689C>G	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	36	5.717184	0.96839	.	.	ENSG00000155495	ENST00000285879	.	.	.	0.92	0.92	0.19397	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6329	0.28249	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	563	.	ENSP00000285879:Y563X	Y	+	3	2	MAGEC1	140822545	0.000000	0.05858	0.122000	0.21767	0.122000	0.20287	-2.061000	0.01391	0.179000	0.19938	0.181000	0.17075	TAC		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		12	457	0	0	0	0.411799	0	12	457				
FRY	10129	broad.mit.edu	37	13	32783208	32783208	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr13:32783208T>C	ENST00000380250.3	+	32	4733	c.4237T>C	c.(4237-4239)Tca>Cca	p.S1413P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1413						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGAAGCCACGTCACTGGTCCT	0.542																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(4237-4239)Tca>Cca		furry homolog (Drosophila)							62.0	65.0	64.0					13																	32783208		1970	4150	6120	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32783208T>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4237T>C	13.37:g.32783208T>C	ENSP00000369600:p.Ser1413Pro						p.S1413P	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	32	4733	+		Lung SC(185;0.0271)	1413					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.4237T>C	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639777	0.67244	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.24723	1.84	5.21	4.0	0.46444	.	0.202494	0.44285	D	0.000469	T	0.35248	0.0925	L	0.51422	1.61	0.80722	D	1	P	0.45212	0.853	P	0.53102	0.718	T	0.02320	-1.1177	10	0.32370	T	0.25	.	12.2243	0.54451	0.0:0.0:0.1426:0.8574	.	1413	Q5TBA9	FRY_HUMAN	P	1413;250	ENSP00000369600:S1413P	ENSP00000369600:S1413P	S	+	1	0	FRY	31681208	0.994000	0.37717	0.101000	0.21167	0.986000	0.74619	2.609000	0.46317	0.801000	0.34066	0.397000	0.26171	TCA		0.542	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		29	23	0	0	0	0.760397	0	29	23				
SLC25A22	79751	broad.mit.edu	37	11	791950	791950	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr11:791950A>G	ENST00000320230.5	-	10	1418	c.937T>C	c.(937-939)Tcc>Ccc	p.S313P	CEND1_ENST00000330106.4_5'Flank|CEND1_ENST00000524587.1_5'Flank|SLC25A22_ENST00000531214.1_Missense_Mutation_p.S313P	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	313					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGCAGGGACTCCGCGATG	0.716																																					Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5																			0				endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5						c.(937-939)Tcc>Ccc		solute carrier family 25 (mitochondrial carrier: glutamate), member 22	L-Glutamic Acid(DB00142)						14.0	13.0	14.0					11																	791950		2181	4272	6453	SO:0001583	missense	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:791950A>G	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.937T>C	11.37:g.791950A>G	ENSP00000322020:p.Ser313Pro					SLC25A22_ENST00000531214.1_Missense_Mutation_p.S313P	p.S313P	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1418	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	313					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000320230.5	37	c.937T>C	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895840	0.33442	.	.	ENSG00000177542	ENST00000320230;ENST00000531214	T;T	0.79653	-1.29;-1.29	3.87	-0.299	0.12808	.	0.311307	0.29113	N	0.013106	T	0.61502	0.2352	N	0.14661	0.345	0.23936	N	0.996415	B	0.28208	0.203	B	0.33339	0.162	T	0.51872	-0.8650	10	0.36615	T	0.2	-31.7147	5.642	0.17569	0.544:0.1264:0.0:0.3295	.	313	Q9H936	GHC1_HUMAN	P	313	ENSP00000322020:S313P;ENSP00000437236:S313P	ENSP00000322020:S313P	S	-	1	0	SLC25A22	781950	1.000000	0.71417	0.994000	0.49952	0.697000	0.40408	2.527000	0.45615	0.161000	0.19458	0.533000	0.62120	TCC		0.716	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			12	15	0	0	0	0.479597	0	12	15				
PPP4C	5531	broad.mit.edu	37	16	30096327	30096327	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr16:30096327C>T	ENST00000279387.7	+	9	1036	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	PPP4C_ENST00000561610.1_Missense_Mutation_p.P290S	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	290					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						TGAGGCTGCTCCCCAAGAGAC	0.632																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(868-870)Ccc>Tcc		protein phosphatase 4, catalytic subunit							73.0	81.0	78.0					16																	30096327		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30096327C>T		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.868C>T	16.37:g.30096327C>T	ENSP00000279387:p.Pro290Ser					PPP4C_ENST00000561610.1_Missense_Mutation_p.P290S	p.P290S	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			9	1036	+			290					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.868C>T	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725956	0.69074	.	.	ENSG00000149923	ENST00000279387	T	0.06768	3.26	5.89	5.89	0.94794	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	M	0.75447	2.3	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.01382	-1.1369	10	0.87932	D	0	-29.7797	19.0332	0.92967	0.0:1.0:0.0:0.0	.	290	P60510	PP4C_HUMAN	S	290	ENSP00000279387:P290S	ENSP00000279387:P290S	P	+	1	0	PPP4C	30003828	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.395000	0.66291	2.793000	0.96121	0.655000	0.94253	CCC		0.632	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		41	67	0	0	0	0.859065	0	41	67				
GSK3A	2931	broad.mit.edu	37	19	42740862	42740862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr19:42740862C>A	ENST00000222330.3	-	4	689	c.562G>T	c.(562-564)Gag>Tag	p.E188*	AC006486.9_ENST00000594664.1_Nonsense_Mutation_p.E101*|GSK3A_ENST00000398249.4_Nonsense_Mutation_p.E106*	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.E188*(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				AGGTAAAGCTCGTCTTTCTGC	0.562																																						ENST00000398249.4																			1	Substitution - Nonsense(1)	p.E188*(1)	lung(1)	endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(316-318)Gag>Tag		glycogen synthase kinase 3 alpha							107.0	102.0	104.0					19																	42740862		2203	4300	6503	SO:0001587	stop_gained	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42740862C>A		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.562G>T	19.37:g.42740862C>A	ENSP00000222330:p.Glu188*					AC006486.9_ENST00000594664.1_Nonsense_Mutation_p.E101*|GSK3A_ENST00000222330.3_Nonsense_Mutation_p.E188*	p.E106*			P49840	GSK3A_HUMAN			3	2029	-		Prostate(69;0.00682)	188					O14959	Nonsense_Mutation	SNP	ENST00000222330.3	37	c.316G>T	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	C	37	6.595514	0.97692	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.4707	16.7888	0.85582	0.0:1.0:0.0:0.0	.	.	.	.	X	188;106;133	.	ENSP00000222330:E188X	E	-	1	0	GSK3A	47432702	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	7.137000	0.77295	2.329000	0.79093	0.491000	0.48974	GAG		0.562	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			4	90	1	0	0.150653	0.150653	0.156132	4	90				
KCNJ1	3758	broad.mit.edu	37	11	128710112	128710112	+	Silent	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr11:128710112G>A	ENST00000392664.2	-	2	200	c.84C>T	c.(82-84)gtC>gtT	p.V28V	KCNJ1_ENST00000392665.2_Silent_p.V9V|KCNJ1_ENST00000392666.1_Silent_p.V9V|KCNJ1_ENST00000324036.3_Silent_p.V9V|KCNJ1_ENST00000440599.2_Silent_p.V9V	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	28					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	AGCGAGTGACGACCCATTTCC	0.408																																						ENST00000392665.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23						c.(25-27)gtC>gtT		potassium inwardly-rectifying channel, subfamily J, member 1	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						114.0	108.0	110.0					11																	128710112		2201	4297	6498	SO:0001819	synonymous_variant	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128710112G>A	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.84C>T	11.37:g.128710112G>A						KCNJ1_ENST00000324036.3_Silent_p.V9V|KCNJ1_ENST00000392664.2_Silent_p.V28V|KCNJ1_ENST00000392666.1_Silent_p.V9V|KCNJ1_ENST00000440599.2_Silent_p.V9V	p.V9V	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	171	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	28					B2RMR4|Q6LD67	Silent	SNP	ENST00000392664.2	37	c.27C>T	CCDS8476.1																																																																																				0.408	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		36	122	0	0	0	0.796494	0	36	122				
TMPRSS11E	28983	broad.mit.edu	37	4	69341983	69341983	+	Silent	SNP	C	C	T	rs138790575	byFrequency	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr4:69341983C>T	ENST00000305363.4	+	7	598	c.534C>T	c.(532-534)tgC>tgT	p.C178C		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	178					cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTGCAGGCTGCGGAACACGAA	0.488													T|||	4	0.000798722	0.0	0.0	5008	,	,		17580	0.0		0.004	False		,,,				2504	0.0					ENST00000305363.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(532-534)tgC>tgT		transmembrane protease, serine 11E		T		12,4394	19.1+/-41.9	0,12,2191	114.0	123.0	120.0		534	-3.7	0.9	4	dbSNP_134	120	37,8563	24.6+/-71.5	0,37,4263	no	coding-synonymous	TMPRSS11E	NM_014058.3		0,49,6454	TT,TC,CC		0.4302,0.2724,0.3767		178/424	69341983	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69341983C>T	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.534C>T	4.37:g.69341983C>T							p.C178C	NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN			7	598	+			178					A6NL71|Q14DC8|Q6UW31	Silent	SNP	ENST00000305363.4	37	c.534C>T	CCDS33993.1																																																																																				0.488	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		48	78	0	0	0	0.870114	0	48	78				
LRP1B	53353	broad.mit.edu	37	2	141806669	141806669	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:141806669G>A	ENST00000389484.3	-	11	2646	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	559					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTAAAGCACGAGGGTTTACC	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1675-1677)Cgt>Tgt		low density lipoprotein receptor-related protein 1B							201.0	194.0	196.0					2																	141806669		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141806669G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1675C>T	2.37:g.141806669G>A	ENSP00000374135:p.Arg559Cys	TSP Lung(27;0.18)					p.R559C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	11	2646	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	559					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1675C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314371	0.40996	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91577	-2.87	5.49	4.61	0.57282	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000002	D	0.88190	0.6370	M	0.75264	2.295	0.58432	D	0.999999	B	0.25809	0.135	B	0.17722	0.019	D	0.84365	0.0540	10	0.36615	T	0.2	.	9.1244	0.36805	0.0739:0.0:0.7802:0.1458	.	559	Q9NZR2	LRP1B_HUMAN	C	559;497	ENSP00000374135:R559C	ENSP00000374135:R559C	R	-	1	0	LRP1B	141523139	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	6.208000	0.72165	1.295000	0.44724	0.563000	0.77884	CGT		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		42	111	0	0	0	0.870114	0	42	111				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000564451.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																197331							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000567960.1_RNA								0	1255	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	36	0	0	0	0.150653	0	3	36				
ITGA7	3679	broad.mit.edu	37	12	56079057	56079057	+	Missense_Mutation	SNP	G	G	A	rs367574217		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:56079057G>A	ENST00000555728.1	-	26	3359	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	ITGA7_ENST00000394230.2_Silent_p.N1108N|ITGA7_ENST00000257880.7_Silent_p.N1148N|ITGA7_ENST00000394229.2_Silent_p.N1104N|ITGA7_ENST00000257879.6_Missense_Mutation_p.R1067W|ITGA7_ENST00000452168.2_Missense_Mutation_p.R974W|ITGA7_ENST00000553804.1_Missense_Mutation_p.R1071W|ITGA7_ENST00000347027.6_Missense_Mutation_p.R1061W			Q13683	ITA7_HUMAN	integrin, alpha 7	1111					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGCTTCGCCCGTTTGAAGAAT	0.607																																						ENST00000257879.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3199-3201)Cgg>Tgg		integrin, alpha 7		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	57.0	59.0		3211,2920,3199	4.2	1.0	12		59	0,8600		0,0,4300	no	missense,missense,missense	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	1071/1142,974/1045,1067/1138	56079057	1,13005	2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56079057G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3331C>T	12.37:g.56079057G>A	ENSP00000452387:p.Arg1111Trp					ITGA7_ENST00000553804.1_Missense_Mutation_p.R1071W|ITGA7_ENST00000452168.2_Missense_Mutation_p.R974W|ITGA7_ENST00000394229.2_Silent_p.N1104N|ITGA7_ENST00000257880.7_Silent_p.N1148N|ITGA7_ENST00000394230.2_Silent_p.N1108N|ITGA7_ENST00000347027.6_Missense_Mutation_p.R1061W|ITGA7_ENST00000555728.1_Missense_Mutation_p.R1111W	p.R1067W	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN			25	3414	-			1111					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.3199C>T		.	.	.	.	.	.	.	.	.	.	G	22.2	4.254311	0.80135	2.27E-4	0.0	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000555728	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.12	4.19	0.49359	Integrin alpha chain, C-terminal cytoplasmic region, conserved site (1);	0.079095	0.50627	D	0.000101	T	0.56352	0.1979	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.972;0.992;0.984	T	0.64859	-0.6308	10	0.87932	D	0	.	10.8847	0.46960	0.0:0.0:0.6738:0.3262	.	974;1111;1071;1130	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	W	1071;1067;1061;974;1111	ENSP00000452120:R1071W;ENSP00000257879:R1067W;ENSP00000343009:R1061W;ENSP00000393844:R974W;ENSP00000452387:R1111W	ENSP00000257879:R1067W	R	-	1	2	ITGA7	54365324	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.697000	0.68295	2.381000	0.81170	0.555000	0.69702	CGG		0.607	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		17	26	0	0	0	0.592651	0	17	26				
TTN	7273	broad.mit.edu	37	2	179596537	179596537	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:179596537C>A	ENST00000591111.1	-	56	16338	c.16114G>T	c.(16114-16116)Gat>Tat	p.D5372Y	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D5689Y|TTN_ENST00000342992.6_Missense_Mutation_p.D4445Y|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12191	Ig-like 34.				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)			ACCAGATGATCCTGAATGAAA	0.502																																						ENST00000589042.1																			0				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						c.(17065-17067)Gat>Tat		titin							125.0	128.0	127.0					2																	179596537		1987	4163	6150	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596537C>A	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.16114G>T	2.37:g.179596537C>A	ENSP00000465570:p.Asp5372Tyr					TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4445Y|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5372Y|TTN-AS1_ENST00000585451.1_RNA	p.D5689Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		58	17289	-			5372			Ig-like 37.		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	37	c.17065G>T		.	.	.	.	.	.	.	.	.	.	C	1.124	-0.654279	0.03480	.	.	ENSG00000155657	ENST00000342992	T	0.46451	0.87	6.17	5.3	0.74995	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54759	0.1878	L	0.60957	1.885	0.80722	D	1	D	0.61080	0.989	P	0.58077	0.832	T	0.58875	-0.7559	9	0.87932	D	0	.	12.4156	0.55492	0.0:0.8566:0.0:0.1434	.	5372	Q8WZ42	TITIN_HUMAN	Y	4445	ENSP00000343764:D4445Y	ENSP00000343764:D4445Y	D	-	1	0	TTN	179304782	1.000000	0.71417	0.997000	0.53966	0.080000	0.17528	1.843000	0.39259	1.640000	0.50565	-0.126000	0.14955	GAT		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	97	1	0	6.33695e-27	0.834066	7.08247e-27	38	97				
FAM86DP	692099	broad.mit.edu	37	3	75476735	75476735	+	RNA	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr3:75476735C>T	ENST00000459803.1	-	0	621					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.E194E(3)									CTCGGAGCTGCTCGAGGACCC	0.602																																						ENST00000459803.1																			3	Substitution - coding silent(3)	p.E194E(3)	kidney(2)|endometrium(1)																																																692099							g.chr3:75476735C>T	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75476735C>T								NR_024241.1						0	621	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.602	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		3	37	0	0	0	0.115264	0	3	37				
HCAR3	8843	broad.mit.edu	37	12	123200127	123200127	+	Silent	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:123200127G>A	ENST00000528880.2	-	1	1312	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	386					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	GACATTACTCGATGCAACAGC	0.488																																						ENST00000528880.2																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(1156-1158)atC>atT		hydroxycarboxylic acid receptor 3	Mepenzolate(DB04843)|Niacin(DB00627)						106.0	113.0	111.0					12																	123200127		2203	4299	6502	SO:0001819	synonymous_variant	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200127G>A	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.1158C>T	12.37:g.123200127G>A						HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	p.I386I	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN			1	1312	-			386					A8K4G5|B2R830|E9PI97|Q8NGE4	Silent	SNP	ENST00000528880.2	37	c.1158C>T	CCDS53842.1																																																																																				0.488	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		37	73	0	0	0	0.847076	0	37	73				
CARKD	55739	broad.mit.edu	37	13	111279875	111279875	+	Missense_Mutation	SNP	C	C	T	rs576045093		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr13:111279875C>T	ENST00000309957.2	+	5	490	c.476C>T	c.(475-477)gCg>gTg	p.A159V	CARKD_ENST00000397191.4_Missense_Mutation_p.A96V|CARKD_ENST00000458711.2_Intron|CARKD_ENST00000424185.2_Missense_Mutation_p.A49V|CARKD_ENST00000470164.2_3'UTR	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						AGAGATGATGCGCTTCTCAGA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		15648	0.001		0.0	False		,,,				2504	0.0					ENST00000309957.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						c.(475-477)gCg>gTg		carbohydrate kinase domain containing							162.0	137.0	145.0					13																	111279875		2203	4300	6503	SO:0001583	missense	55739							g.chr13:111279875C>T	AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.476C>T	13.37:g.111279875C>T	ENSP00000311984:p.Ala159Val					CARKD_ENST00000424185.2_Missense_Mutation_p.A49V|CARKD_ENST00000397191.4_Missense_Mutation_p.A96V|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Intron	p.A159V	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN			5	490	+			159			YjeF C-terminal.			Missense_Mutation	SNP	ENST00000309957.2	37	c.476C>T	CCDS9513.1	.	.	.	.	.	.	.	.	.	.	C	0.280	-0.986782	0.02180	.	.	ENSG00000213995	ENST00000424185;ENST00000439607;ENST00000397191;ENST00000309957	T;T;T	0.23147	1.92;1.92;1.92	5.1	-10.2	0.00374	Uncharacterised domain, carbohydrate kinase-related (3);	0.745417	0.12811	N	0.437193	T	0.10852	0.0265	L	0.33710	1.025	0.09310	N	1	B;B;B;B;B	0.20052	0.007;0.006;0.036;0.041;0.012	B;B;B;B;B	0.15484	0.009;0.006;0.007;0.009;0.013	T	0.19484	-1.0304	10	0.14252	T	0.57	4.1795	4.0642	0.09852	0.1193:0.1546:0.2141:0.512	.	49;141;96;159;159	Q8IW45-4;B4DKX7;B7Z3Q0;Q8IW45-2;Q8IW45	.;.;.;.;CARKD_HUMAN	V	49;141;96;159	ENSP00000413191:A49V;ENSP00000380375:A96V;ENSP00000311984:A159V	ENSP00000311984:A159V	A	+	2	0	CARKD	110077876	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.491000	0.00974	-5.170000	0.00020	-1.093000	0.02169	GCG		0.507	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045764.1	NM_018210		3	49	0	0	0	0.115264	0	3	49				
EPHB4	2050	broad.mit.edu	37	7	100420084	100420084	+	Missense_Mutation	SNP	C	C	T	rs557044427		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr7:100420084C>T	ENST00000358173.3	-	4	1085	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.R206Q|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	206	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCCGGGAATCGAGTCAGGTT	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		15003	0.001		0.0	False		,,,				2504	0.0				GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(616-618)cGa>cAa		EPH receptor B4							48.0	50.0	49.0					7																	100420084		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100420084C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.617G>A	7.37:g.100420084C>T	ENSP00000350896:p.Arg206Gln					EPHB4_ENST00000360620.3_Missense_Mutation_p.R206Q|EPHB4_ENST00000477446.1_5'UTR	p.R206Q	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			4	1085	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		206			Cys-rich.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.617G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	9.094	1.002416	0.19121	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.73047	-0.71;-0.7	5.76	-7.54	0.01332	.	1.619090	0.03349	N	0.195892	T	0.44932	0.1317	N	0.12502	0.225	0.09310	N	1	B;B;B;B;B	0.34200	0.059;0.441;0.017;0.059;0.148	B;B;B;B;B	0.17722	0.009;0.009;0.009;0.009;0.019	T	0.36311	-0.9753	10	0.15499	T	0.54	.	13.2095	0.59817	0.0:0.2287:0.0875:0.6839	.	206;206;206;206;206	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	Q	206	ENSP00000353833:R206Q;ENSP00000350896:R206Q	ENSP00000350896:R206Q	R	-	2	0	EPHB4	100258020	0.000000	0.05858	0.073000	0.20177	0.877000	0.50540	-2.272000	0.01165	-1.621000	0.01562	-0.150000	0.13652	CGA		0.652	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		5	14	0	0	0	0.217242	0	5	14				
ERCC3	2071	broad.mit.edu	37	2	128046236	128046236	+	Splice_Site	SNP	C	C	T	rs138897577		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:128046236C>T	ENST00000285398.2	-	7	1121	c.1027G>A	c.(1027-1029)Ggt>Agt	p.G343S	ERCC3_ENST00000493187.2_Splice_Site_p.G279S	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	343	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TACCACTTACCGCAGGGAAGA	0.532			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.e7+1	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	358.0	355.0	356.0		1027	5.5	1.0	2	dbSNP_134	356	0,8600		0,0,4300	no	missense-near-splice	ERCC3	NM_000122.1	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	343/783	128046236	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046236C>T	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1027+1G>A	2.37:g.128046236C>T						ERCC3_ENST00000285398.2_Splice_Site_p.G343_splice	p.G279_splice			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	7	1298	-	Colorectal(110;0.1)		343					Q53QM0	Splice_Site	SNP	ENST00000285398.2	37	c.835_splice	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176843	0.94846	2.27E-4	0.0	ENSG00000163161	ENST00000285398;ENST00000493187	D;D	0.95103	-3.61;-3.61	5.5	5.5	0.81552	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99556	1.0967	9	.	.	.	-15.7051	19.3996	0.94623	0.0:1.0:0.0:0.0	.	343	P19447	ERCC3_HUMAN	S	343;279	ENSP00000285398:G343S;ENSP00000444796:G279S	.	G	-	1	0	ERCC3	127762706	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	7.757000	0.85209	2.598000	0.87819	0.655000	0.94253	GGT		0.532	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122	Missense_Mutation	138	291	0	0	0	0.870114	0	138	291				
KCNN2	3781	broad.mit.edu	37	5	113829157	113829157	+	Silent	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:113829157G>A	ENST00000512097.3	+	8	2458	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V	KCNN2_ENST00000264773.3_Silent_p.V480V|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Silent_p.V132V|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	480	Calmodulin-binding. {ECO:0000250}.				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)	ACACTTTGGTGGACTTGGCAA	0.408																																						ENST00000512097.3																			0				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						c.(1438-1440)gtG>gtA		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							103.0	98.0	100.0					5																	113829157		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113829157G>A	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.1440G>A	5.37:g.113829157G>A						KCNN2_ENST00000264773.3_Silent_p.V480V|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Silent_p.V132V|RP11-492A10.1_ENST00000514115.1_RNA	p.V480V			Q9H2S1	KCNN2_HUMAN		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)	8	2458	+		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)	480			Calmodulin-binding (By similarity).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.1440G>A	CCDS4114.1																																																																																				0.408	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		8	19	0	0	0	0.278610	0	8	19				
PCDH17	27253	broad.mit.edu	37	13	58206802	58206802	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr13:58206802A>C	ENST00000377918.3	+	1	148	c.122A>C	c.(121-123)gAt>gCt	p.D41A		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	41	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCGGCAGGGATGCTCGACTG	0.662																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(121-123)gAt>gCt		protocadherin 17							32.0	33.0	33.0					13																	58206802		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58206802A>C	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.122A>C	13.37:g.58206802A>C	ENSP00000367151:p.Asp41Ala						p.D41A	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	148	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	41			Cadherin 1.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.122A>C	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056076	0.76074	.	.	ENSG00000118946	ENST00000377918	T	0.34072	1.38	5.55	5.55	0.83447	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71660	0.3366	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81174	-0.1053	9	.	.	.	.	15.8615	0.79026	1.0:0.0:0.0:0.0	.	41;41	O14917-2;O14917	.;PCD17_HUMAN	A	41	ENSP00000367151:D41A	.	D	+	2	0	PCDH17	57104803	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.733000	0.91539	2.333000	0.79357	0.533000	0.62120	GAT		0.662	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		3	25	0	0	0	0.115264	0	3	25				
ASB5	140458	broad.mit.edu	37	4	177136850	177136850	+	Silent	SNP	G	G	A	rs201956027		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr4:177136850G>A	ENST00000296525.3	-	7	1004	c.891C>T	c.(889-891)tgC>tgT	p.C297C	ASB5_ENST00000512254.1_Silent_p.C244C	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	297	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TACAGAGTCGGCAAAGTTGGT	0.358																																						ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(889-891)tgC>tgT		ankyrin repeat and SOCS box containing 5							105.0	101.0	102.0					4																	177136850		2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177136850G>A	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.891C>T	4.37:g.177136850G>A						ASB5_ENST00000512254.1_Silent_p.C244C	p.C297C	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	7	1004	-		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)	297			SOCS box.		Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.891C>T	CCDS3827.1																																																																																				0.358	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			3	30	0	0	0	0.150653	0	3	30				
CNBD1	168975	broad.mit.edu	37	8	87917339	87917339	+	Silent	SNP	C	C	T	rs199778499		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr8:87917339C>T	ENST00000518476.1	+	3	240	c.189C>T	c.(187-189)caC>caT	p.H63H		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	63										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TATCAGCTCACGATACATTTA	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		15453	0.0		0.001	False		,,,				2504	0.0					ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(187-189)caC>caT		cyclic nucleotide binding domain containing 1		C		0,3694		0,0,1847	84.0	75.0	78.0		189	0.1	0.0	8		78	3,8185		0,3,4091	no	coding-synonymous	CNBD1	NM_173538.2		0,3,5938	TT,TC,CC		0.0366,0.0,0.0252		63/437	87917339	3,11879	1847	4094	5941	SO:0001819	synonymous_variant	168975							g.chr8:87917339C>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.189C>T	8.37:g.87917339C>T							p.H63H	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			3	240	+			63						Silent	SNP	ENST00000518476.1	37	c.189C>T	CCDS55259.1																																																																																				0.343	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		6	20	0	0	0	0.217242	0	6	20				
OR4Q3	441669	broad.mit.edu	37	14	20216210	20216210	+	Silent	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr14:20216210T>C	ENST00000331723.1	+	1	624	c.624T>C	c.(622-624)tcT>tcC	p.S208S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCTGCTGTCTCTTGTCTGCT	0.493																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(622-624)tcT>tcC		olfactory receptor, family 4, subfamily Q, member 3							221.0	172.0	188.0					14																	20216210		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216210T>C	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.624T>C	14.37:g.20216210T>C							p.S208S	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	624	+	all_cancers(95;0.00108)		208					Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.624T>C	CCDS32020.1																																																																																				0.493	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			18	39	0	0	0	0.520397	0	18	39				
MAGEB2	4113	broad.mit.edu	37	X	30236705	30236705	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:30236705G>A	ENST00000378988.4	+	2	109	c.8G>A	c.(7-9)cGt>cAt	p.R3H		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	3										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						ATCATGCCTCGTGGTCAGAAG	0.527													G|||	1	0.000264901	0.0	0.0	3775	,	,		14416	0.001		0.0	False		,,,				2504	0.0					ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(7-9)cGt>cAt		melanoma antigen family B, 2							40.0	39.0	40.0					X																	30236705		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30236705G>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.8G>A	X.37:g.30236705G>A	ENSP00000368273:p.Arg3His						p.R3H	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	109	+			3					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.8G>A	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116268	0.56505	.	.	ENSG00000099399	ENST00000378988	T	0.07216	3.21	3.43	0.672	0.17935	Melanoma associated antigen, MAGE, N-terminal (1);	0.406619	0.24206	N	0.040576	T	0.28566	0.0707	M	0.91300	3.195	0.22112	N	0.999359	D	0.89917	1.0	D	0.97110	1.0	T	0.05903	-1.0857	10	0.56958	D	0.05	.	5.1675	0.15094	0.4299:0.0:0.5701:0.0	.	3	O15479	MAGB2_HUMAN	H	3	ENSP00000368273:R3H	ENSP00000368273:R3H	R	+	2	0	MAGEB2	30146626	0.718000	0.27976	0.460000	0.27093	0.284000	0.27059	0.838000	0.27572	0.018000	0.15052	-0.322000	0.08575	CGT		0.527	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		28	5	0	0	0	0.729181	0	28	5				
PCDHA12	56137	broad.mit.edu	37	5	140255408	140255408	+	Silent	SNP	C	C	T	rs199848124	byFrequency	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:140255408C>T	ENST00000398631.2	+	1	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	117	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			TGCAGGTTTTCCATGTGGACG	0.562													.|||	5	0.000998403	0.0008	0.0	5008	,	,		15847	0.0		0.004	False		,,,				2504	0.0				Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				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						c.(349-351)ttC>ttT				C	,,,,,,,,,,,,,,,	2,4404	4.2+/-10.8	0,2,2201	106.0	121.0	116.0		,,,351,,,,,,,,,,,,351	5.3	1.0	5		116	14,8582	9.8+/-36.6	0,14,4284	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031864.1	,,,,,,,,,,,,,,,	0,16,6485	TT,TC,CC		0.1629,0.0454,0.1231	,,,,,,,,,,,,,,,	,,,117/942,,,,,,,,,,,,117/793	140255408	16,12986	2203	4298	6501	SO:0001819	synonymous_variant	56137							g.chr5:140255408C>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.351C>T	5.37:g.140255408C>T						PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.F117F	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	351	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.351C>T	CCDS47285.1																																																																																				0.562	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		6	133	0	0	0	0.217242	0	6	133				
ARHGAP9	64333	broad.mit.edu	37	12	57871047	57871047	+	Silent	SNP	A	A	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:57871047A>T	ENST00000356411.2	-	5	900	c.762T>A	c.(760-762)ccT>ccA	p.P254P	ARHGAP9_ENST00000393791.3_Silent_p.P254P|ARHGAP9_ENST00000430041.2_Silent_p.P70P|ARHGAP9_ENST00000424809.2_Silent_p.P254P|ARHGAP9_ENST00000550288.1_Silent_p.P333P|ARHGAP9_ENST00000393797.2_Silent_p.P325P|ARHGAP9_ENST00000550454.1_5'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	254					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCATGGAGCCAGGGTTCTGGG	0.527																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(973-975)ccT>ccA		Rho GTPase activating protein 9							110.0	93.0	99.0					12																	57871047		2203	4300	6503	SO:0001819	synonymous_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57871047A>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.762T>A	12.37:g.57871047A>T						ARHGAP9_ENST00000356411.2_Silent_p.P254P|ARHGAP9_ENST00000550288.1_Silent_p.P333P|ARHGAP9_ENST00000430041.2_Silent_p.P70P|ARHGAP9_ENST00000424809.2_Silent_p.P254P|ARHGAP9_ENST00000393791.3_Silent_p.P254P|ARHGAP9_ENST00000550454.1_5'UTR	p.P325P			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		8	1167	-			254			PH.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37	c.975T>A																																																																																					0.527	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		14	36	0	0	0	0.457914	0	14	36				
IGLC7	28834	broad.mit.edu	37	22	23264803	23264803	+	RNA	SNP	A	A	G	rs186643503		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr22:23264803A>G	ENST00000390331.2	+	0	38				IGLJ7_ENST00000390330.2_RNA			A0M8Q6	LAC7_HUMAN	immunoglobulin lambda constant 7						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CTCTGTTCCCACCCTCCTCTG	0.637																																						ENST00000390331.1																			0															G		1,4381		0,1,2190	60.0	64.0	62.0			-4.4	0.0	22		62	0,8582		0,0,4291	no	intergenic				0,1,6481	GG,GA,AA		0.0,0.0228,0.0077			23264803	1,12963	2191	4291	6482			28834							g.chr22:23264803A>G	X51755		22q11.2	2012-02-08			ENSG00000211685	ENSG00000211685		"""Immunoglobulins / IGL locus"""	5861	other	immunoglobulin gene							Standard	NG_000002		Approved			A0M8Q6	OTTHUMG00000151017		22.37:g.23264803A>G														0	38	+									RNA	SNP	ENST00000390331.2	37																																																																																						0.637	IGLC7-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000320966.4	NG_000002		3	35	0	0	0	0.115264	0	3	35				
SLC47A1	55244	broad.mit.edu	37	17	19459314	19459314	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr17:19459314T>C	ENST00000270570.4	+	10	946	c.860T>C	c.(859-861)cTc>cCc	p.L287P	SLC47A1_ENST00000457293.1_Missense_Mutation_p.L287P|SLC47A1_ENST00000395585.1_Missense_Mutation_p.L287P|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Missense_Mutation_p.L92P|SLC47A1_ENST00000436810.2_Missense_Mutation_p.L264P|SLC47A1_ENST00000542886.1_3'UTR|SNORA59B_ENST00000458926.1_RNA	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	287					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	CCAGGCATCCTCGGCATGGTG	0.592																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(859-861)cTc>cCc		solute carrier family 47 (multidrug and toxin extrusion), member 1							78.0	67.0	71.0					17																	19459314		2203	4300	6503	SO:0001583	missense	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19459314T>C		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.860T>C	17.37:g.19459314T>C	ENSP00000270570:p.Leu287Pro					SLC47A1_ENST00000436810.2_Missense_Mutation_p.L264P|SLC47A1_ENST00000395585.1_Missense_Mutation_p.L287P|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000457293.1_Missense_Mutation_p.L287P|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Missense_Mutation_p.L92P	p.L287P	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			10	946	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		287					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	c.860T>C	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.516209	0.85495	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.54	5.54	0.83059	.	0.215328	0.47455	D	0.000227	T	0.78496	0.4292	H	0.98754	4.32	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.993;0.998;0.999	D;D;D;D;D	0.72625	0.976;0.968;0.976;0.971;0.978	D	0.87424	0.2384	10	0.87932	D	0	-6.4389	14.8707	0.70456	0.0:0.0:0.0:1.0	.	21;264;21;287;287	E7ENC3;E7EX57;B4DDH5;Q96FL8;Q96FL8-3	.;.;.;S47A1_HUMAN;.	P	264;287;287;287;21	ENSP00000407155:L264P;ENSP00000270570:L287P;ENSP00000415586:L287P;ENSP00000378951:L287P	ENSP00000270570:L287P	L	+	2	0	SLC47A1	19399906	1.000000	0.71417	0.950000	0.38849	0.966000	0.64601	7.360000	0.79487	2.104000	0.64026	0.533000	0.62120	CTC		0.592	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		21	31	0	0	0	0.639603	0	21	31				
NEMF	9147	broad.mit.edu	37	14	50255970	50255970	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr14:50255970C>T	ENST00000298310.5	-	28	3238	c.2789G>A	c.(2788-2790)aGa>aAa	p.R930K	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.R909K|NEMF_ENST00000382135.2_Missense_Mutation_p.R130K|NEMF_ENST00000545773.1_Missense_Mutation_p.R888K			O60524	NEMF_HUMAN	nuclear export mediator factor	930					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTGTCCACCTCTAGGTTTCTG	0.413																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(2788-2790)aGa>aAa		nuclear export mediator factor							196.0	195.0	195.0					14																	50255970		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50255970C>T	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2789G>A	14.37:g.50255970C>T	ENSP00000298310:p.Arg930Lys					NEMF_ENST00000545773.1_Missense_Mutation_p.R888K|NEMF_ENST00000546046.1_Missense_Mutation_p.R909K|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.R130K	p.R930K			O60524	NEMF_HUMAN			28	3238	-			930					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.2789G>A	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	0.422	-0.907660	0.02434	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.39229	1.1;1.1;1.09;1.11	5.65	0.541	0.17168	.	0.225617	0.38326	N	0.001727	T	0.19087	0.0458	N	0.17474	0.49	0.26586	N	0.973285	B;B;B;B;B	0.12013	0.005;0.005;0.003;0.0;0.004	B;B;B;B;B	0.13407	0.009;0.004;0.003;0.0;0.004	T	0.30937	-0.9961	10	0.02654	T	1	-10.9976	8.4429	0.32826	0.0:0.3962:0.0:0.6038	.	909;905;888;930;130	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	K	930;888;130;909;702;888	ENSP00000298310:R930K;ENSP00000438309:R888K;ENSP00000441016:R909K;ENSP00000452540:R888K	ENSP00000298310:R930K	R	-	2	0	NEMF	49325720	0.982000	0.34865	0.997000	0.53966	0.213000	0.24496	1.752000	0.38349	0.288000	0.22398	0.557000	0.71058	AGA		0.413	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		46	101	0	0	0	0.859065	0	46	101				
G6PD	2539	broad.mit.edu	37	X	153763390	153763390	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chrX:153763390T>G	ENST00000393564.2	-	5	590	c.478A>C	c.(478-480)Agc>Cgc	p.S160R	G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000369620.2_Missense_Mutation_p.S160R|G6PD_ENST00000393562.2_Missense_Mutation_p.S190R	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	160					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACATCTGGCTCATGCAGGAC	0.652																																						ENST00000393562.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(568-570)Agc>Cgc		glucose-6-phosphate dehydrogenase							140.0	110.0	120.0					X																	153763390		2203	4300	6503	SO:0001583	missense	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153763390T>G	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.478A>C	X.37:g.153763390T>G	ENSP00000377194:p.Ser160Arg					G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000393564.2_Missense_Mutation_p.S160R|G6PD_ENST00000369620.2_Missense_Mutation_p.S160R	p.S190R	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN			5	951	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		160					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	c.568A>C	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447057	0.63178	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81;-4.81	5.35	5.35	0.76521	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	M	0.85542	2.76	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.71870	0.975;0.969	D	0.99624	1.0984	10	0.72032	D	0.01	.	10.7036	0.45942	0.0:0.0:0.0:1.0	.	160;190	P11413;P11413-3	G6PD_HUMAN;.	R	190;160;160;160;160;160;160	ENSP00000377192:S190R;ENSP00000377194:S160R;ENSP00000358633:S160R;ENSP00000395599:S160R;ENSP00000400648:S160R;ENSP00000394690:S160R	ENSP00000291567:S160R	S	-	1	0	G6PD	153416584	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	4.639000	0.61361	1.797000	0.52628	0.430000	0.28490	AGC		0.652	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		43	40	0	0	0	0.859065	0	43	40				
PCDHA4	56144	broad.mit.edu	37	5	140189040	140189040	+	Silent	SNP	G	G	A	rs146943849	byFrequency	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr5:140189040G>A	ENST00000530339.1	+	1	2268	c.2268G>A	c.(2266-2268)ccG>ccA	p.P756P	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.P756P|PCDHA4_ENST00000356878.4_Silent_p.P756P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	756	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGAGGCCGAGGGTGTGCT	0.652													.|||	7	0.00139776	0.0008	0.0	5008	,	,		15883	0.0		0.006	False		,,,				2504	0.0					ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(2266-2268)ccG>ccA				G	,,,,,	3,4403	6.2+/-15.9	1,1,2201	89.0	92.0	91.0		,,,2268,,2268	0.9	0.9	5	dbSNP_134	91	16,8584	11.2+/-40.8	0,16,4284	no	intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_031411.1,NM_031500.1	,,,,,	1,17,6485	AA,AG,GG		0.186,0.0681,0.1461	,,,,,	,,,756/948,,756/799	140189040	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	56144							g.chr5:140189040G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2268G>A	5.37:g.140189040G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.P756P|PCDHA4_ENST00000356878.4_Silent_p.P756P|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.P756P	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2268	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.2268G>A	CCDS54916.1																																																																																				0.652	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		4	56	0	0	0	0.150653	0	4	56				
SLC8A1	6546	broad.mit.edu	37	2	40655955	40655955	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr2:40655955T>C	ENST00000403092.1	-	2	1499	c.1466A>G	c.(1465-1467)gAa>gGa	p.E489G	SLC8A1_ENST00000406391.2_Missense_Mutation_p.E489G|SLC8A1_ENST00000406785.2_Missense_Mutation_p.E489G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E489G|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E489G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E489G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	489	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAGGAAATTTTCATCCTCCTC	0.408																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1465-1467)gAa>gGa		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						76.0	74.0	74.0					2																	40655955		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655955T>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1466A>G	2.37:g.40655955T>C	ENSP00000384763:p.Glu489Gly					SLC8A1_ENST00000542756.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E489G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E489G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E489G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E489G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E489G	p.E489G			P32418	NAC1_HUMAN			2	1655	-			489			Calx-beta 1.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1466A>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472750	0.63737	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	6.17	6.17	0.99709	Na-Ca exchanger/integrin-beta4 (2);	0.041490	0.85682	D	0.000000	D	0.84938	0.5583	H	0.98199	4.17	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.997;1.0	D;D;D;D;D	0.97110	1.0;0.986;1.0;0.94;1.0	D	0.90194	0.4252	10	0.87932	D	0	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	489;489;489;489;489	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	G	489	ENSP00000383886:E489G;ENSP00000440727:E489G;ENSP00000384763:E489G;ENSP00000385678:E489G;ENSP00000385188:E489G;ENSP00000385535:E489G;ENSP00000332931:E489G;ENSP00000384908:E489G;ENSP00000385811:E489G;ENSP00000443515:E489G	ENSP00000332931:E489G	E	-	2	0	SLC8A1	40509459	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.881000	0.87252	2.371000	0.80710	0.533000	0.62120	GAA		0.408	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		24	43	0	0	0	0.654019	0	24	43				
RBP3	5949	broad.mit.edu	37	10	48383918	48383918	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr10:48383918delG	ENST00000224600.4	-	3	3427	c.3314delC	c.(3313-3315)ccafs	p.P1105fs		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1105	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGCAGAACTGGAGGGCCTTC	0.537																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3313-3315)cafs		retinol binding protein 3, interstitial	Vitamin A(DB00162)						118.0	99.0	105.0					10																	48383918		2203	4300	6503	SO:0001589	frameshift_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48383918delG	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3314delC	10.37:g.48383918delG	ENSP00000224600:p.Pro1105fs						p.P1105fs	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			3	3427	-			1105			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Frame_Shift_Del	DEL	ENST00000224600.4	37	c.3314delC	CCDS7218.1																																																																																				0.537	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		25	48						25	48	---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52911705	52911706	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr12:52911705_52911706insT	ENST00000252242.4	-	4	1292_1293	c.902_903insA	c.(901-903)aacfs	p.N301fs		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	301	Coil 1B.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTCATGAAGTTAATCTCATC	0.421																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(901-903)attfs		keratin 5																																				SO:0001589	frameshift_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52911705_52911706insT		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.903dupA	12.37:g.52911707_52911707dupT	ENSP00000252242:p.Asn301fs						p.I301fs	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	1292_1293	-			301			Coil 1B.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Frame_Shift_Ins	INS	ENST00000252242.4	37	c.902_903insA	CCDS8830.1																																																																																				0.421	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			39	78						39	78	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-	rs376589131		TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)gcgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(937-939)cgfs		poly(A) binding protein, cytoplasmic 3							213.0	213.0	213.0					13																	25671273		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671273delG	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.937delG	13.37:g.25671273delG	ENSP00000281589:p.Ala313fs						p.A313fs	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	974	+		Lung SC(185;0.0225)|Breast(139;0.0602)	313			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.937delG	CCDS9311.1																																																																																				0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		7	184						7	184	---	---	---	---
PPM1E	22843	broad.mit.edu	37	17	56833457	56833458	+	In_Frame_Ins	INS	-	-	GAACCC	rs3834568|rs201186780|rs74256772	byFrequency	TCGA-CQ-7065-01A-11D-2078-08	TCGA-CQ-7065-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64c422bb-a531-4636-8e68-bdaf212df6dc	d1cb757d-641c-488c-a845-ee4a1075a662	g.chr17:56833457_56833458insGAACCC	ENST00000308249.2	+	1	228_229	c.99_100insGAACCC	c.(100-102)gaa>GAACCCgaa	p.34_34E>EPE		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaacc	0.673														1948	0.388978	0.4493	0.2896	5008	,	,		9152	0.3323		0.4036	False		,,,				2504	0.4213					ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(97-102)ccaacc>ccGAACCCaacc		protein phosphatase, Mg2+/Mn2+ dependent, 1E																																				SO:0001652	inframe_insertion	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:56833457_56833458insGAACCC	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.124_129dupGAACCC	17.37:g.56833458_56833463dupGAACCC	ENSP00000312411:p.ProGlu44dup						p.32_33insPN	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		1	228_229	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		32			11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.		Q8N8J9|Q96DB8	In_Frame_Ins	INS	ENST00000308249.2	37	c.99_100insGAACCC	CCDS11613.1																																																																																				0.673	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		6	13						6	13	---	---	---	---
