#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
CBS	875	broad.mit.edu	37	21	44486353	44486353	+	Splice_Site	SNP	C	C	T	rs373782713		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr21:44486353C>T	ENST00000398165.3	-	5	710	c.451G>A	c.(451-453)Ggg>Agg	p.G151R	CBS_ENST00000398158.1_Splice_Site_p.G151R|CBS_ENST00000359624.3_Splice_Site_p.G151R|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000544202.1_Splice_Site_p.G63R|CBS_ENST00000352178.5_Splice_Site_p.G151R|CBS_ENST00000398168.1_Splice_Site_p.G151R	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	151			G -> R (in CBSD).|Missing (in CBSD).		cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	TGGCACCCACCGGTGTTCCCG	0.687																																						ENST00000398165.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17	GRCh37	CM990336	CBS	M		c.e5+1		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	C	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	51.0	46.0	48.0		451,451,451	5.1	1.0	21		48	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice,missense-near-splice	CBS	NM_000071.2,NM_001178008.1,NM_001178009.1	125,125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	151/552,151/552,151/552	44486353	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44486353C>T	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.451+1G>A	21.37:g.44486353C>T						CBS_ENST00000398158.1_Splice_Site_p.G151_splice|CBS_ENST00000352178.5_Splice_Site_p.G151_splice|CBS_ENST00000359624.3_Splice_Site_p.G151_splice|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000398168.1_Splice_Site_p.G151_splice|CBS_ENST00000544202.1_Splice_Site_p.G63_splice	p.G151_splice	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN			5	710	-			151		G -> R (in CBSD).|Missing (in CBSD).			B2R993|D3DSK4|Q99425|Q9BWC5	Splice_Site	SNP	ENST00000398165.3	37	c.451_splice	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983603	0.74474	0.0	1.16E-4	ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202;ENST00000441030	D;D;D;D;D;D;D	0.99732	-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57	5.09	5.09	0.68999	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.053107	0.85682	D	0.000000	D	0.99880	0.9943	H	0.99726	4.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96123	0.9086	9	.	.	.	-44.9146	16.34	0.83079	0.0:1.0:0.0:0.0	.	151;108	P35520;B7Z2D6	CBS_HUMAN;.	R	151;151;151;151;151;108;63;151	ENSP00000381225:G151R;ENSP00000381231:G151R;ENSP00000352643:G151R;ENSP00000344460:G151R;ENSP00000381234:G151R;ENSP00000439332:G63R;ENSP00000388235:G151R	.	G	-	1	0	CBS	43359422	1.000000	0.71417	0.999000	0.59377	0.045000	0.14185	6.620000	0.74224	2.360000	0.80028	0.555000	0.69702	GGG		0.687	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071	Missense_Mutation	4	68	0	0	0	1	0	4	68				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		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.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	p.R175H	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	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; 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.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	47	0	0	0	1	0	25	47				
GEM	2669	broad.mit.edu	37	8	95272441	95272441	+	Silent	SNP	A	A	G			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr8:95272441A>G	ENST00000297596.2	-	2	555	c.291T>C	c.(289-291)ggT>ggC	p.G97G	GEM_ENST00000396194.2_Silent_p.G97G	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	97					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGTCATGCACACCTGCAAAGA	0.592																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	ENST00000297596.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(289-291)ggT>ggC		GTP binding protein overexpressed in skeletal muscle							97.0	92.0	94.0					8																	95272441		2203	4300	6503	SO:0001819	synonymous_variant	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95272441A>G		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.291T>C	8.37:g.95272441A>G						GEM_ENST00000396194.2_Silent_p.G97G	p.G97G	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		2	555	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	97					B2RA31	Silent	SNP	ENST00000297596.2	37	c.291T>C	CCDS6261.1																																																																																				0.592	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		28	56	0	0	0	1	0	28	56				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	47	0	0	0	1	0	4	47				
LOC399815	399815	broad.mit.edu	37	10	124647982	124647982	+	RNA	SNP	A	A	G			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr10:124647982A>G	ENST00000425266.1	+	0	34																											GCACACAGGCATCTAGTGGAG	0.388																																						ENST00000425266.1																			0																																																			0							g.chr10:124647982A>G																													10.37:g.124647982A>G														0	34	+									RNA	SNP	ENST00000425266.1	37																																																																																						0.388	RP11-564D11.3-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000331659.1			5	11	0	0	0	1	0	5	11				
CIZ1	25792	broad.mit.edu	37	9	130952718	130952718	+	Missense_Mutation	SNP	A	A	G			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr9:130952718A>G	ENST00000393608.1	-	3	378	c.176T>C	c.(175-177)cTc>cCc	p.L59P	CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000325721.8_Missense_Mutation_p.L59P|CIZ1_ENST00000372938.5_Missense_Mutation_p.L59P|CIZ1_ENST00000357558.5_Missense_Mutation_p.L59P|CIZ1_ENST00000372948.3_Missense_Mutation_p.L59P|CIZ1_ENST00000372954.1_Missense_Mutation_p.L59P|CIZ1_ENST00000541172.1_Intron|CIZ1_ENST00000538431.1_Missense_Mutation_p.L59P|CIZ1_ENST00000277465.4_Missense_Mutation_p.L59P	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	59					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCGGGGGGAGCCCCCTGTG	0.582																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(175-177)cTc>cCc		CDKN1A interacting zinc finger protein 1							25.0	24.0	25.0					9																	130952718		2203	4300	6503	SO:0001583	missense	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130952718A>G	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.176T>C	9.37:g.130952718A>G	ENSP00000377232:p.Leu59Pro					CIZ1_ENST00000277465.4_Missense_Mutation_p.L59P|CIZ1_ENST00000541172.1_Intron|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000393608.1_Missense_Mutation_p.L59P|CIZ1_ENST00000372954.1_Missense_Mutation_p.L59P|CIZ1_ENST00000372938.5_Missense_Mutation_p.L59P|CIZ1_ENST00000357558.5_Missense_Mutation_p.L59P|CIZ1_ENST00000372948.3_Missense_Mutation_p.L59P|CIZ1_ENST00000325721.8_Missense_Mutation_p.L59P	p.L59P	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			3	423	-			59					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	c.176T>C	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.300687	0.40694	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544;ENST00000420484	T;T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	4.31	4.31	0.51392	.	0.401761	0.18500	N	0.139371	D	0.82893	0.5136	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D;D	0.91635	0.986;0.999;0.976;0.999;0.999;0.998;0.943;0.999	D	0.83844	0.0259	10	0.87932	D	0	-23.1311	10.9807	0.47492	1.0:0.0:0.0:0.0	.	59;59;59;59;59;59;59;59	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	P	59;59;59;59;59;26;59;59;59;59;10;59;59	ENSP00000362045:L59P;ENSP00000377232:L59P;ENSP00000439244:L59P;ENSP00000350169:L59P;ENSP00000320374:L59P;ENSP00000277465:L59P;ENSP00000362039:L59P;ENSP00000362029:L59P;ENSP00000398011:L10P;ENSP00000321780:L59P;ENSP00000407265:L59P	ENSP00000277465:L59P	L	-	2	0	CIZ1	129992539	1.000000	0.71417	0.992000	0.48379	0.052000	0.14988	4.437000	0.59955	1.823000	0.53134	0.533000	0.62120	CTC		0.582	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		7	18	0	0	0	1	0	7	18				
WRAP73	49856	broad.mit.edu	37	1	3551833	3551833	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:3551833T>C	ENST00000270708.7	-	7	702	c.629A>G	c.(628-630)gAt>gGt	p.D210G	WRAP73_ENST00000378322.3_Missense_Mutation_p.D210G	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	210						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CAACCGGCCATCCAATGAGTA	0.542																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(628-630)gAt>gGt		WD repeat containing, antisense to TP73							79.0	79.0	79.0					1																	3551833		2203	4300	6503	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3551833T>C	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.629A>G	1.37:g.3551833T>C	ENSP00000270708:p.Asp210Gly					WRAP73_ENST00000270708.7_Missense_Mutation_p.D210G	p.D210G			Q9P2S5	WRP73_HUMAN			7	687	-			210					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.629A>G	CCDS48.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.015351	0.35511	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000419924	T;T	0.52057	3.39;0.68	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.68869	0.3048	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69595	-0.5103	10	0.39692	T	0.17	-30.4422	15.0143	0.71573	0.0:0.0:0.0:1.0	.	210	Q9P2S5	WRP73_HUMAN	G	210;210;181	ENSP00000270708:D210G;ENSP00000367573:D210G	ENSP00000270708:D210G	D	-	2	0	WRAP73	3541693	1.000000	0.71417	0.917000	0.36280	0.015000	0.08874	7.391000	0.79828	2.140000	0.66376	0.533000	0.62120	GAT		0.542	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			56	51	0	0	0	1	0	56	51				
ROS1	6098	broad.mit.edu	37	6	117663696	117663696	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr6:117663696G>C	ENST00000368508.3	-	28	4734	c.4536C>G	c.(4534-4536)gaC>gaG	p.D1512E	ROS1_ENST00000368507.3_Missense_Mutation_p.D1506E|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1512	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGCTATACTGTCCTGAAATT	0.259			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(4534-4536)gaC>gaG		c-ros oncogene 1 , receptor tyrosine kinase							55.0	58.0	57.0					6																	117663696		2201	4296	6497	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117663696G>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4536C>G	6.37:g.117663696G>C	ENSP00000357494:p.Asp1512Glu					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D1506E	p.D1512E	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	28	4734	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1512			Fibronectin type-III 6.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.4536C>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	0.075	-1.195312	0.01594	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.52295	0.67;0.67	5.32	0.221	0.15283	.	0.272675	0.31312	N	0.007864	T	0.04952	0.0133	N	0.03608	-0.345	0.23076	N	0.998339	B	0.02656	0.0	B	0.01281	0.0	T	0.43032	-0.9416	10	0.02654	T	1	.	7.7644	0.28972	0.0:0.3651:0.4636:0.1714	.	1512	P08922	ROS1_HUMAN	E	1512;1506	ENSP00000357494:D1512E;ENSP00000357493:D1506E	ENSP00000357493:D1506E	D	-	3	2	ROS1	117770389	0.006000	0.16342	0.290000	0.24890	0.827000	0.46813	-0.162000	0.10012	0.035000	0.15519	0.561000	0.74099	GAC		0.259	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			13	21	0	0	0	1	0	13	21				
OTOGL	283310	broad.mit.edu	37	12	80732944	80732944	+	Silent	SNP	T	T	C			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr12:80732944T>C	ENST00000547103.1	+	42	4893	c.4887T>C	c.(4885-4887)acT>acC	p.T1629T	OTOGL_ENST00000458043.2_Silent_p.T1641T			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1629	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAATTACTACTCCAGCTGGAC	0.398																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(4921-4923)acT>acC		otogelin-like							193.0	192.0	192.0					12																	80732944		1884	4101	5985	SO:0001819	synonymous_variant	283310							g.chr12:80732944T>C	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4887T>C	12.37:g.80732944T>C						OTOGL_ENST00000547103.1_Silent_p.T1629T	p.T1641T	NM_173591.3	NP_775862.3					42	4929	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37	c.4923T>C		.	.	.	.	.	.	.	.	.	.	T	10.34	1.324362	0.24080	.	.	ENSG00000165899	ENST00000298820	.	.	.	5.72	0.336	0.15958	.	.	.	.	.	T	0.43478	0.1249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20571	-1.0271	4	.	.	.	.	2.9123	0.05740	0.1077:0.1262:0.334:0.4322	.	.	.	.	P	84	.	.	L	+	2	0	OTOGL	79257075	0.980000	0.34600	0.995000	0.50966	0.999000	0.98932	0.011000	0.13264	-0.173000	0.10761	0.528000	0.53228	CTC		0.398	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		4	128	0	0	0	1	0	4	128				
KIAA0586	9786	broad.mit.edu	37	14	58955472	58955472	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr14:58955472T>G	ENST00000556134.1	+	25	3890	c.3616T>G	c.(3616-3618)Tct>Gct	p.S1206A	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S1145A|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S1274A|KIAA0586_ENST00000423743.3_Missense_Mutation_p.S1177A	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1206					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GATGCCAGGTTCTGATTCATC	0.488																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3529-3531)Tct>Gct		KIAA0586							89.0	88.0	88.0					14																	58955472		1940	4148	6088	SO:0001583	missense	9786							g.chr14:58955472T>G	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.3616T>G	14.37:g.58955472T>G	ENSP00000452351:p.Ser1206Ala					KIAA0586_ENST00000261244.5_Missense_Mutation_p.S1145A|KIAA0586_ENST00000556134.1_Missense_Mutation_p.S1206A|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S1274A	p.S1177A	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			25	3787	+			1145					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.3529T>G	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831003	0.71258	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.38	4.21	0.49690	.	0.061922	0.64402	N	0.000003	T	0.71324	0.3326	.	.	.	0.36604	D	0.874821	B;D;D;B;B	0.64830	0.096;0.994;0.971;0.096;0.096	B;P;P;B;B	0.61201	0.083;0.885;0.717;0.136;0.136	T	0.78069	-0.2348	9	0.54805	T	0.06	.	12.3495	0.55141	0.0:0.0:0.1413:0.8587	.	1081;1274;1145;1206;1177	B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;K0586_HUMAN;.	A	1274;1206;1177;1145	ENSP00000346359:S1274A;ENSP00000452351:S1206A;ENSP00000399427:S1177A;ENSP00000261244:S1145A	ENSP00000261244:S1145A	S	+	1	0	KIAA0586	58025225	1.000000	0.71417	0.173000	0.22940	0.165000	0.22458	2.502000	0.45398	0.956000	0.37904	0.477000	0.44152	TCT		0.488	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		3	62	0	0	0	1	0	3	62				
ANKRD24	170961	broad.mit.edu	37	19	4222733	4222733	+	Missense_Mutation	SNP	G	G	A	rs376946018		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr19:4222733G>A	ENST00000600132.1	+	20	3514	c.3238G>A	c.(3238-3240)Gcc>Acc	p.A1080T	ANKRD24_ENST00000262970.5_Missense_Mutation_p.A1170T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A1080T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1080										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGCCGCCCTCGCCACCCCTGA	0.592																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(3238-3240)Gcc>Acc		ankyrin repeat domain 24																																				SO:0001583	missense	170961							g.chr19:4222733G>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3238G>A	19.37:g.4222733G>A	ENSP00000471252:p.Ala1080Thr					ANKRD24_ENST00000262970.5_Missense_Mutation_p.A1170T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A1080T	p.A1080T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	20	3514	+			1080					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.3238G>A	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	G	2.306	-0.359000	0.05138	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.30714	1.53;1.52	3.52	2.48	0.30137	.	.	.	.	.	T	0.13114	0.0318	N	0.12182	0.205	0.09310	N	1	B	0.30634	0.288	B	0.19148	0.024	T	0.20140	-1.0284	9	0.17369	T	0.5	.	6.5015	0.22172	0.1326:0.0:0.8674:0.0	.	1080	Q8TF21	ANR24_HUMAN	T	1080;1170	ENSP00000321731:A1080T;ENSP00000262970:A1170T	ENSP00000262970:A1170T	A	+	1	0	ANKRD24	4173733	0.006000	0.16342	0.003000	0.11579	0.109000	0.19521	1.528000	0.35985	1.046000	0.40249	0.306000	0.20318	GCC		0.592	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		4	16	0	0	0	1	0	4	16				
TBX22	50945	broad.mit.edu	37	X	79286146	79286146	+	Missense_Mutation	SNP	G	G	A			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chrX:79286146G>A	ENST00000373294.5	+	8	1127	c.1099G>A	c.(1099-1101)Gtc>Atc	p.V367I	TBX22_ENST00000373291.1_Missense_Mutation_p.V247I|TBX22_ENST00000373296.3_Missense_Mutation_p.V367I|TBX22_ENST00000442340.1_Missense_Mutation_p.V247I	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	367					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTGCCCAATGTCAACCTGCC	0.448																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(739-741)Gtc>Atc		T-box 22							166.0	148.0	154.0					X																	79286146		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286146G>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1099G>A	X.37:g.79286146G>A	ENSP00000362390:p.Val367Ile					TBX22_ENST00000373294.5_Missense_Mutation_p.V367I|TBX22_ENST00000373291.1_Missense_Mutation_p.V247I|TBX22_ENST00000373296.3_Missense_Mutation_p.V367I	p.V247I	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			9	1229	+			367					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.739G>A	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.670032	0.00758	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	4.42	-2.89	0.05665	.	1.682920	0.04552	N	0.390094	T	0.50274	0.1606	N	0.03177	-0.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30504	-0.9976	10	0.27785	T	0.31	.	2.6827	0.05099	0.3238:0.1233:0.4161:0.1369	.	367	Q9Y458	TBX22_HUMAN	I	367;247;367;247	ENSP00000362393:V367I;ENSP00000396394:V247I;ENSP00000362390:V367I;ENSP00000362388:V247I	ENSP00000362388:V247I	V	+	1	0	TBX22	79172802	0.961000	0.32948	0.714000	0.30535	0.420000	0.31355	0.218000	0.17622	-0.234000	0.09782	-0.513000	0.04457	GTC		0.448	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		73	12	0	0	0	1	0	73	12				
HECTD4	283450	broad.mit.edu	37	12	112605177	112605177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr12:112605177G>A	ENST00000430131.2	-	71	12357	c.11212C>T	c.(11212-11214)Caa>Taa	p.Q3738*	HECTD4_ENST00000550722.1_Nonsense_Mutation_p.Q4014*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.Q3988*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3738	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGCAGGTCTTGCTCAGGGTCC	0.617																																						ENST00000550722.1																			0											c.(12040-12042)Caa>Taa		HECT domain containing E3 ubiquitin protein ligase 4							82.0	90.0	87.0					12																	112605177		2056	4190	6246	SO:0001587	stop_gained	283450							g.chr12:112605177G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11212C>T	12.37:g.112605177G>A	ENSP00000404379:p.Gln3738*					HECTD4_ENST00000430131.2_Nonsense_Mutation_p.Q3738*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.Q3988*	p.Q4014*	NM_001109662.3	NP_001103132.3					72	12435	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37	c.12040C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.324009	0.97476	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	.	.	.	5.45	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	10.2721	0.43489	0.0:0.2038:0.6815:0.1148	.	.	.	.	X	3988;3738;4014;203	.	ENSP00000366783:Q3988X	Q	-	1	0	C12orf51	111089560	0.016000	0.18221	0.998000	0.56505	0.974000	0.67602	0.955000	0.29188	2.576000	0.86940	0.491000	0.48974	CAA		0.617	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		64	81	0	0	0	1	0	64	81				
MGARP	84709	broad.mit.edu	37	4	140188136	140188136	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr4:140188136T>C	ENST00000398955.1	-	4	519	c.340A>G	c.(340-342)Ata>Gta	p.I114V		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	114					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											GCTTCCACTATAAGTTCTTCT	0.438																																						ENST00000398955.1																			0											c.(340-342)Ata>Gta		mitochondria-localized glutamic acid-rich protein							172.0	163.0	166.0					4																	140188136		1929	4142	6071	SO:0001583	missense	84709					integral to membrane		g.chr4:140188136T>C	AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"""ovary-specific acidic protein"", ""corneal endothelium-specific protein 1"", ""hypoxia up-regulated mitochondrial movement regulator"""		"""chromosome 4 open reading frame 49"""	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.340A>G	4.37:g.140188136T>C	ENSP00000381928:p.Ile114Val						p.I114V	NM_032623.3	NP_116012.2	Q8TDB4	CD049_HUMAN			4	519	-			114					Q9BZC3	Missense_Mutation	SNP	ENST00000398955.1	37	c.340A>G	CCDS43269.1	.	.	.	.	.	.	.	.	.	.	T	0.026	-1.368905	0.01225	.	.	ENSG00000137463	ENST00000398955	T	0.38722	1.12	5.43	2.59	0.31030	.	1.917910	0.02157	N	0.058441	T	0.16811	0.0404	N	0.01048	-1.04	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.34403	-0.9830	10	0.06494	T	0.89	-1.0759	8.971	0.35905	0.168:0.7428:0.0:0.0891	.	114	Q8TDB4	CD049_HUMAN	V	114	ENSP00000381928:I114V	ENSP00000381928:I114V	I	-	1	0	C4orf49	140407586	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.351000	0.07711	0.181000	0.19994	-0.407000	0.06327	ATA		0.438	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623		27	241	0	0	0	1	0	27	241				
BAGE2	85319	broad.mit.edu	37	21	11038985	11038985	+	RNA	SNP	G	G	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr21:11038985G>T	ENST00000470054.1	-	0	1218							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAACTTTATAGATTTGCCTCC	0.403																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038985G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038985G>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1218	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.403	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		40	434	1	0	5.20837e-25	1	5.80023e-25	40	434				
LRRC52	440699	broad.mit.edu	37	1	165532816	165532816	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:165532816C>T	ENST00000294818.1	+	2	987	c.697C>T	c.(697-699)Cga>Tga	p.R233*	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	233	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAACCCACTCCGATACATGTG	0.567																																						ENST00000294818.1																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18						c.(697-699)Cga>Tga		leucine rich repeat containing 52							70.0	56.0	61.0					1																	165532816		2203	4300	6503	SO:0001587	stop_gained	440699					integral to membrane		g.chr1:165532816C>T	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.697C>T	1.37:g.165532816C>T	ENSP00000294818:p.Arg233*					RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	p.R233*	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN			2	987	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		233			LRRCT.		A2RUN7|Q5T9K5	Nonsense_Mutation	SNP	ENST00000294818.1	37	c.697C>T	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	C	37	6.326684	0.97476	.	.	ENSG00000162763	ENST00000294818	.	.	.	4.22	3.24	0.37175	.	0.363277	0.27768	N	0.017927	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	9.7758	0.40618	0.2048:0.7952:0.0:0.0	.	.	.	.	X	233	.	ENSP00000294818:R233X	R	+	1	2	LRRC52	163799440	0.977000	0.34250	0.934000	0.37439	0.891000	0.51852	2.554000	0.45845	2.050000	0.60909	0.655000	0.94253	CGA		0.567	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		15	34	0	0	0	1	0	15	34				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			53	58	0	0	0	1	0	53	58				
POGLUT1	56983	broad.mit.edu	37	3	119196233	119196233	+	Nonsense_Mutation	SNP	C	C	T	rs140695299		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr3:119196233C>T	ENST00000295588.4	+	4	478	c.394C>T	c.(394-396)Cga>Tga	p.R132*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	132					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						GATCAATGTACGAGATTATCC	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		22080	0.001		0.0	False		,,,				2504	0.0					ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(394-396)Cga>Tga		protein O-glucosyltransferase 1							189.0	171.0	177.0					3																	119196233		2203	4300	6503	SO:0001587	stop_gained	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119196233C>T	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.394C>T	3.37:g.119196233C>T	ENSP00000295588:p.Arg132*						p.R132*	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			4	478	+			132					B2RD13|Q53GJ4|Q8N2T1	Nonsense_Mutation	SNP	ENST00000295588.4	37	c.394C>T	CCDS2988.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	22.7|22.7	4.330650|4.330650	0.81690|0.81690	.|.	.|.	ENSG00000163389|ENSG00000163389	ENST00000295588|ENST00000476573	.|.	.|.	.|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	.|T	.|0.65365	.|0.2684	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69250	.|-0.5194	.|3	0.09084|.	T|.	0.74|.	-8.1386|-8.1386	14.2547|14.2547	0.66043|0.66043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	132|118	.|.	ENSP00000295588:R132X|.	R|T	+|+	1|2	2|0	POGLUT1|POGLUT1	120678923|120678923	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.579000|2.579000	0.46059|0.46059	2.739000|2.739000	0.93911|0.93911	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.478	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		40	17	0	0	0	1	0	40	17				
OR2A12	346525	broad.mit.edu	37	7	143792751	143792751	+	Missense_Mutation	SNP	T	T	A			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr7:143792751T>A	ENST00000408949.2	+	1	611	c.551T>A	c.(550-552)tTc>tAc	p.F184Y		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ATGTCCGTATTCAAATTGGCC	0.493																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(550-552)tTc>tAc		olfactory receptor, family 2, subfamily A, member 12							169.0	161.0	163.0					7																	143792751		1971	4147	6118	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792751T>A		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.551T>A	7.37:g.143792751T>A	ENSP00000386174:p.Phe184Tyr						p.F184Y	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	611	+	Melanoma(164;0.0783)		184					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.551T>A	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.316725	0.23908	.	.	ENSG00000221858	ENST00000408949	T	0.00107	8.72	4.23	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	L	0.42529	1.33	0.09310	N	1	B	0.31599	0.33	B	0.40602	0.334	T	0.40156	-0.9578	9	0.87932	D	0	-19.7925	11.2945	0.49269	0.0:0.0:0.0:1.0	.	184	Q8NGT7	O2A12_HUMAN	Y	184	ENSP00000386174:F184Y	ENSP00000386174:F184Y	F	+	2	0	OR2A12	143423684	0.003000	0.15002	0.003000	0.11579	0.015000	0.08874	1.480000	0.35464	1.770000	0.52166	0.413000	0.27773	TTC		0.493	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			12	146	0	0	0	1	0	12	146				
EFNB2	1948	broad.mit.edu	37	13	107165059	107165059	+	Missense_Mutation	SNP	T	T	G			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr13:107165059T>G	ENST00000245323.4	-	2	373	c.224A>C	c.(223-225)tAt>tCt	p.Y75S		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	75	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AACTTTATAATATTCATACTG	0.393																																						ENST00000245323.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(223-225)tAt>tCt		ephrin-B2							126.0	133.0	131.0					13																	107165059		2203	4300	6503	SO:0001583	missense	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107165059T>G	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.224A>C	13.37:g.107165059T>G	ENSP00000245323:p.Tyr75Ser						p.Y75S	NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN			2	373	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		75					Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	c.224A>C	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933027	0.52866	.	.	ENSG00000125266	ENST00000245323	D	0.93307	-3.2	5.41	5.41	0.78517	Cupredoxin (2);	0.111853	0.64402	D	0.000007	D	0.96137	0.8741	M	0.73962	2.25	0.80722	D	1	D	0.56287	0.975	D	0.66602	0.945	D	0.96357	0.9263	10	0.59425	D	0.04	.	15.7499	0.77976	0.0:0.0:0.0:1.0	.	75	P52799	EFNB2_HUMAN	S	75	ENSP00000245323:Y75S	ENSP00000245323:Y75S	Y	-	2	0	EFNB2	105963060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.844000	0.55873	2.188000	0.69820	0.533000	0.62120	TAT		0.393	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		7	131	0	0	0	1	0	7	131				
COL24A1	255631	broad.mit.edu	37	1	86591609	86591609	+	Nonsense_Mutation	SNP	A	A	T	rs368561891		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:86591609A>T	ENST00000370571.2	-	3	776	c.410T>A	c.(409-411)tTa>tAa	p.L137*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.L137*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	137					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTAGGTAGTAATTGTACTCC	0.363																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(409-411)tTa>tAa		collagen, type XXIV, alpha 1							51.0	49.0	49.0					1																	86591609		1838	4085	5923	SO:0001587	stop_gained	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591609A>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.410T>A	1.37:g.86591609A>T	ENSP00000359603:p.Leu137*					COL24A1_ENST00000436319.1_Nonsense_Mutation_p.L137*	p.L137*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	776	-			137			TSP N-terminal.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Nonsense_Mutation	SNP	ENST00000370571.2	37	c.410T>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142508	0.77888	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	.	.	.	5.82	5.82	0.92795	.	0.000000	0.31323	N	0.007860	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3471	0.74346	1.0:0.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000359603:L137X	L	-	2	0	COL24A1	86364197	0.999000	0.42202	0.367000	0.25926	0.829000	0.46940	8.908000	0.92640	2.220000	0.72140	0.533000	0.62120	TTA		0.363	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		34	46	0	0	0	1	0	34	46				
DDX4	54514	broad.mit.edu	37	5	55083767	55083767	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr5:55083767G>T	ENST00000505374.1	+	15	1203	c.1111G>T	c.(1111-1113)Gta>Tta	p.V371L	DDX4_ENST00000354991.5_Missense_Mutation_p.V337L|DDX4_ENST00000511853.1_Missense_Mutation_p.V222L|DDX4_ENST00000514278.2_Missense_Mutation_p.V351L|DDX4_ENST00000353507.5_Missense_Mutation_p.V337L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	371	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGTATTATTGTAGCACCAAC	0.388																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1111-1113)Gta>Tta		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							79.0	82.0	81.0					5																	55083767		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55083767G>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1111G>T	5.37:g.55083767G>T	ENSP00000424838:p.Val371Leu					DDX4_ENST00000514278.2_Missense_Mutation_p.V351L|DDX4_ENST00000354991.5_Missense_Mutation_p.V337L|DDX4_ENST00000353507.5_Missense_Mutation_p.V337L|DDX4_ENST00000511853.1_Missense_Mutation_p.V222L	p.V371L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			15	1203	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	371			Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.1111G>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186601	0.78789	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41	5.59	5.59	0.84812	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12092	0.0294	N	0.00885	-1.115	0.46167	D	0.998901	B;D;B;D	0.64830	0.114;0.985;0.221;0.994	B;P;B;P	0.62089	0.053;0.754;0.251;0.898	T	0.47736	-0.9094	10	0.40728	T	0.16	-23.1918	11.0033	0.47618	0.1434:0.0:0.8566:0.0	.	351;222;337;371	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	L	337;351;371;351;337;222	ENSP00000334167:V337L;ENSP00000425359:V351L;ENSP00000424838:V371L;ENSP00000427167:V351L;ENSP00000347087:V337L;ENSP00000423123:V222L	ENSP00000334167:V337L	V	+	1	0	DDX4	55119524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.201000	0.72124	2.640000	0.89533	0.655000	0.94253	GTA		0.388	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		51	56	1	0	1.81118e-26	1	2.06391e-26	51	56				
MUC16	94025	broad.mit.edu	37	19	9061576	9061576	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr19:9061576C>A	ENST00000397910.4	-	3	26073	c.25870G>T	c.(25870-25872)Gct>Tct	p.A8624S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8626	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						AATATTTCAGCTGAGGTGCTG	0.458																																						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.(25870-25872)Gct>Tct		mucin 16, cell surface associated							141.0	132.0	135.0					19																	9061576		1957	4156	6113	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061576C>A	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.25870G>T	19.37:g.9061576C>A	ENSP00000381008:p.Ala8624Ser						p.A8624S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	26073	-			8626			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25870G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	1.307	-0.603145	0.03744	.	.	ENSG00000181143	ENST00000397910	T	0.24151	1.87	2.23	-4.46	0.03536	.	.	.	.	.	T	0.10937	0.0267	N	0.14661	0.345	.	.	.	B	0.06786	0.001	B	0.09377	0.004	T	0.21109	-1.0255	8	0.87932	D	0	.	0.2611	0.00218	0.2508:0.1594:0.2622:0.3275	.	8624	B5ME49	.	S	8624	ENSP00000381008:A8624S	ENSP00000381008:A8624S	A	-	1	0	MUC16	8922576	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.185000	0.00278	-2.981000	0.00283	-1.585000	0.00851	GCT		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	99	1	0	1.23904e-05	1	1.26485e-05	4	99				
C16orf78	123970	broad.mit.edu	37	16	49433165	49433165	+	Silent	SNP	C	C	T	rs369429905		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr16:49433165C>T	ENST00000299191.3	+	5	891	c.774C>T	c.(772-774)acC>acT	p.T258T		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	258						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGGTGTTCACCGGAATACCCA	0.522																																						ENST00000299191.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(772-774)acC>acT		chromosome 16 open reading frame 78							138.0	116.0	123.0					16																	49433165		2199	4300	6499	SO:0001819	synonymous_variant	123970							g.chr16:49433165C>T	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.774C>T	16.37:g.49433165C>T							p.T258T	NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN			5	891	+			258						Silent	SNP	ENST00000299191.3	37	c.774C>T	CCDS10738.1																																																																																				0.522	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		24	30	0	0	0	1	0	24	30				
MDM2	4193	broad.mit.edu	37	12	69210669	69210669	+	Silent	SNP	A	A	C			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr12:69210669A>C	ENST00000350057.5	+	2	159	c.159A>C	c.(157-159)tcA>tcC	p.S53S	MDM2_ENST00000540827.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258149.5_Silent_p.S78S|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000462284.1_Silent_p.S84S|MDM2_ENST00000258148.7_Silent_p.S84S|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	78	Necessary for interaction with USP2.|SWIB.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TATATTGTTCAAATGATCTTC	0.343			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(250-252)tcA>tcC		MDM2 oncogene, E3 ubiquitin protein ligase							104.0	96.0	99.0					12																	69210669		1824	4083	5907	SO:0001819	synonymous_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69210669A>C		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.159A>C	12.37:g.69210669A>C						MDM2_ENST00000299252.4_Intron|MDM2_ENST00000258149.5_Silent_p.S78S|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Silent_p.S84S|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000350057.5_Silent_p.S53S|MDM2_ENST00000348801.2_Intron	p.S84S	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		4	554	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		78			Necessary for interaction with USP2.|SWIB.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Silent	SNP	ENST00000350057.5	37	c.252A>C																																																																																					0.343	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		33	43	0	0	0	1	0	33	43				
CCKAR	886	broad.mit.edu	37	4	26483533	26483533	+	Silent	SNP	G	G	A	rs200960240		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr4:26483533G>A	ENST00000295589.3	-	5	1208	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	338					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.Y338Y(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGCGGTGTCGTAGGCCCGCC	0.597																																						ENST00000295589.3																			1	Substitution - coding silent(1)	p.Y338Y(1)	large_intestine(1)	NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(1012-1014)taC>taT		cholecystokinin A receptor	Ceruletide(DB00403)						101.0	90.0	94.0					4																	26483533		2203	4300	6503	SO:0001819	synonymous_variant	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483533G>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1014C>T	4.37:g.26483533G>A							p.Y338Y	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			5	1208	-		Breast(46;0.0503)	338					B2R9Z5	Silent	SNP	ENST00000295589.3	37	c.1014C>T	CCDS3438.1																																																																																				0.597	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			5	96	0	0	0	1	0	5	96				
KRT16P6	353194	broad.mit.edu	37	17	16723981	16723981	+	RNA	SNP	C	C	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:16723981C>T	ENST00000417510.1	-	0	685																											TCGCTTGGTGCGGAAGTCATC	0.537																																						ENST00000417510.1																			0																																																			0							g.chr17:16723981C>T																													17.37:g.16723981C>T														0	685	-									RNA	SNP	ENST00000417510.1	37																																																																																						0.537	AC022596.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131123.1			9	32	0	0	0	1	0	9	32				
CHD4	1108	broad.mit.edu	37	12	6690297	6690297	+	Missense_Mutation	SNP	C	C	T	rs201992075		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr12:6690297C>T	ENST00000357008.2	-	33	4985	c.4822G>A	c.(4822-4824)Gtt>Att	p.V1608I	SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.V1601I|CHD4_ENST00000544484.1_Missense_Mutation_p.V1633I|CHD4_ENST00000309577.6_Missense_Mutation_p.V1636I|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'Flank	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1608	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGTTCAACAACGACCTTTTCA	0.478																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(4906-4908)Gtt>Att		chromodomain helicase DNA binding protein 4							195.0	205.0	202.0					12																	6690297		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6690297C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4822G>A	12.37:g.6690297C>T	ENSP00000349508:p.Val1608Ile					CHD4_ENST00000544484.1_Missense_Mutation_p.V1633I|CHD4_ENST00000544040.1_Missense_Mutation_p.V1601I|CHD4_ENST00000357008.2_Missense_Mutation_p.V1608I|RP5-940J5.6_ENST00000501075.2_RNA	p.V1636I			Q14839	CHD4_HUMAN			32	5069	-			1608			Required for interaction with PCNT.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4906G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	8.530	0.870678	0.17322	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90004	-2.6;-2.59;-2.6;-2.59	5.46	3.59	0.41128	.	0.833228	0.10648	N	0.650147	T	0.79924	0.4530	N	0.08118	0	0.09310	N	1	B;B;B	0.15141	0.012;0.007;0.012	B;B;B	0.09377	0.004;0.002;0.004	T	0.65175	-0.6232	10	0.38643	T	0.18	.	15.1643	0.72811	0.0:0.2803:0.7196:0.0	.	1636;1608;1601	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	I	1633;1601;1636;1608;1582	ENSP00000440392:V1633I;ENSP00000440542:V1601I;ENSP00000312419:V1636I;ENSP00000349508:V1608I	ENSP00000312419:V1636I	V	-	1	0	CHD4	6560558	0.899000	0.30636	0.024000	0.17045	0.279000	0.26890	2.065000	0.41442	0.753000	0.32945	-0.165000	0.13383	GTT		0.478	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		68	95	0	0	0	1	0	68	95				
SLIT3	6586	broad.mit.edu	37	5	168310292	168310292	+	Missense_Mutation	SNP	C	C	T	rs544300249		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr5:168310292C>T	ENST00000519560.1	-	5	882	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	SLIT3_ENST00000404867.3_Missense_Mutation_p.G155S|SLIT3_ENST00000332966.8_Missense_Mutation_p.G155S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	155					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGGTGATGCCGCGGAACGCC	0.502																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(463-465)Ggc>Agc		slit homolog 3 (Drosophila)							134.0	109.0	117.0					5																	168310292		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168310292C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.463G>A	5.37:g.168310292C>T	ENSP00000430333:p.Gly155Ser					SLIT3_ENST00000332966.8_Missense_Mutation_p.G155S|SLIT3_ENST00000404867.3_Missense_Mutation_p.G155S	p.G155S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	882	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	155					A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.463G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229373	0.79688	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.61510	0.1;0.1;0.1	4.97	4.97	0.65823	.	0.060489	0.64402	D	0.000004	T	0.74650	0.3744	M	0.64260	1.97	0.80722	D	1	D;D	0.89917	0.978;1.0	P;D	0.97110	0.524;1.0	T	0.77918	-0.2408	10	0.87932	D	0	.	18.2459	0.89985	0.0:1.0:0.0:0.0	.	155;155	O75094-2;O75094	.;SLIT3_HUMAN	S	155	ENSP00000430333:G155S;ENSP00000332164:G155S;ENSP00000384890:G155S	ENSP00000332164:G155S	G	-	1	0	SLIT3	168242870	1.000000	0.71417	0.931000	0.37212	0.649000	0.38597	6.278000	0.72614	2.288000	0.76882	0.655000	0.94253	GGC		0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		23	28	0	0	0	1	0	23	28				
MYH13	8735	broad.mit.edu	37	17	10212891	10212891	+	Missense_Mutation	SNP	C	C	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:10212891C>T	ENST00000418404.3	-	33	5076	c.4913G>A	c.(4912-4914)cGc>cAc	p.R1638H	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1638H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1638					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCCATCTGGCGGTTGGAGTG	0.622																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4912-4914)cGc>cAc		myosin, heavy chain 13, skeletal muscle							39.0	41.0	41.0					17																	10212891		2172	4289	6461	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10212891C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4913G>A	17.37:g.10212891C>T	ENSP00000404570:p.Arg1638His					MYH13_ENST00000570743.1_Missense_Mutation_p.R1638H|MYH13_ENST00000252172.4_Missense_Mutation_p.R1638H	p.R1638H			Q9UKX3	MYH13_HUMAN			33	5076	-			1638					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4913G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342235	0.61073	.	.	ENSG00000006788	ENST00000252172	D	0.81908	-1.55	4.32	3.34	0.38264	Myosin tail (1);	.	.	.	.	D	0.84701	0.5530	M	0.85373	2.75	0.34937	D	0.749933	B	0.23128	0.08	B	0.27170	0.077	D	0.88884	0.3341	9	0.87932	D	0	.	13.0259	0.58814	0.0:0.9172:0.0:0.0827	.	1638	Q9UKX3	MYH13_HUMAN	H	1638	ENSP00000252172:R1638H	ENSP00000252172:R1638H	R	-	2	0	MYH13	10153616	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.841000	0.69409	2.396000	0.81511	0.563000	0.77884	CGC		0.622	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		11	22	0	0	0	1	0	11	22				
TTBK2	146057	broad.mit.edu	37	15	43038404	43038404	+	Missense_Mutation	SNP	G	G	C			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr15:43038404G>C	ENST00000267890.6	-	15	3432	c.3324C>G	c.(3322-3324)ttC>ttG	p.F1108L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1108					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCAGGCGGGAGAAAAGGTCTG	0.418																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(3322-3324)ttC>ttG		tau tubulin kinase 2							84.0	80.0	81.0					15																	43038404		1835	4075	5910	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43038404G>C	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3324C>G	15.37:g.43038404G>C	ENSP00000267890:p.Phe1108Leu						p.F1108L	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	15	3432	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	1108					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.3324C>G	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	8.152	0.787541	0.16258	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.30981	1.51	5.13	3.17	0.36434	.	0.134373	0.52532	D	0.000062	T	0.17789	0.0427	N	0.24115	0.695	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.06232	-1.0838	10	0.11485	T	0.65	.	10.5189	0.44907	0.1637:0.0:0.8363:0.0	.	1039;1108	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	L	1108;1038;1513	ENSP00000267890:F1108L	ENSP00000263802:F1513L	F	-	3	2	TTBK2	40825696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.477000	0.35431	0.673000	0.31224	-0.345000	0.07892	TTC		0.418	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		19	9	0	0	0	1	0	19	9				
CACNG3	10368	broad.mit.edu	37	16	24372736	24372736	+	Missense_Mutation	SNP	G	G	A	rs150191653		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr16:24372736G>A	ENST00000005284.3	+	4	1702	c.500G>A	c.(499-501)cGt>cAt	p.R167H		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	167					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCCGGGCAGCGTGACTCCAAA	0.443																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(499-501)cGt>cAt		calcium channel, voltage-dependent, gamma subunit 3		G	HIS/ARG	0,4394		0,0,2197	117.0	129.0	125.0		500	5.0	0.5	16	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACNG3	NM_006539.3	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	167/316	24372736	1,12993	2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372736G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.500G>A	16.37:g.24372736G>A	ENSP00000005284:p.Arg167His						p.R167H	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1702	+			167						Missense_Mutation	SNP	ENST00000005284.3	37	c.500G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231936	0.58777	0.0	1.16E-4	ENSG00000006116	ENST00000005284	D	0.88896	-2.44	4.96	4.96	0.65561	.	0.044035	0.85682	D	0.000000	D	0.91050	0.7184	M	0.83953	2.67	0.42303	D	0.992188	P	0.46912	0.886	P	0.44897	0.463	D	0.92670	0.6149	10	0.59425	D	0.04	-7.0825	16.81	0.85717	0.0:0.0:1.0:0.0	.	167	O60359	CCG3_HUMAN	H	167	ENSP00000005284:R167H	ENSP00000005284:R167H	R	+	2	0	CACNG3	24280237	1.000000	0.71417	0.524000	0.27887	0.384000	0.30261	9.476000	0.97823	2.274000	0.75844	0.655000	0.94253	CGT		0.443	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		5	168	0	0	0	1	0	5	168				
MTUS2	23281	broad.mit.edu	37	13	29600725	29600725	+	Missense_Mutation	SNP	G	G	T			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr13:29600725G>T	ENST00000431530.3	+	1	1978	c.1920G>T	c.(1918-1920)aaG>aaT	p.K640N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	630						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGAAACTAAGCCCATCATTA	0.542																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1918-1920)aaG>aaT		microtubule associated tumor suppressor candidate 2							38.0	42.0	41.0					13																	29600725		2027	4187	6214	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600725G>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1920G>T	13.37:g.29600725G>T	ENSP00000392057:p.Lys640Asn						p.K640N	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1978	+			630					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1920G>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.181898	0.57800	.	.	ENSG00000132938	ENST00000431530	T	0.15603	2.41	5.91	4.17	0.49024	.	0.000000	0.56097	D	0.000021	T	0.23492	0.0568	M	0.64997	1.995	0.80722	D	1	D	0.53462	0.96	P	0.52856	0.711	T	0.05321	-1.0892	9	.	.	.	.	2.7632	0.05313	0.1597:0.146:0.5433:0.1511	.	630	Q5JR59	MTUS2_HUMAN	N	640	ENSP00000392057:K640N	.	K	+	3	2	MTUS2	28498725	0.999000	0.42202	0.850000	0.33497	0.961000	0.63080	0.724000	0.25954	0.829000	0.34733	0.655000	0.94253	AAG		0.542	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		14	27	1	0	2.61681e-11	1	2.78748e-11	14	27				
FAM129A	116496	broad.mit.edu	37	1	184777346	184777346	+	Silent	SNP	A	A	G			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:184777346A>G	ENST00000367511.3	-	10	1390	c.1197T>C	c.(1195-1197)ctT>ctC	p.L399L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	399					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AATGCAGCGGAAGATTCATAA	0.453																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1195-1197)ctT>ctC		family with sequence similarity 129, member A							63.0	64.0	63.0					1																	184777346		2203	4300	6503	SO:0001819	synonymous_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184777346A>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1197T>C	1.37:g.184777346A>G						FAM129A_ENST00000487074.1_5'UTR	p.L399L	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			10	1390	-			399					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.1197T>C	CCDS1364.1																																																																																				0.453	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			7	55	0	0	0	1	0	7	55				
GPRC6A	222545	broad.mit.edu	37	6	117130667	117130667	+	Missense_Mutation	SNP	C	C	A			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr6:117130667C>A	ENST00000310357.3	-	2	329	c.308G>T	c.(307-309)tGt>tTt	p.C103F	GPRC6A_ENST00000368549.3_Missense_Mutation_p.C103F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.C103F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	103					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C103F(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GACTTCTGTACAAGTGTCATA	0.413																																						ENST00000310357.3																			1	Substitution - Missense(1)	p.C103F(1)	lung(1)	autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(307-309)tGt>tTt		G protein-coupled receptor, family C, group 6, member A							101.0	93.0	96.0					6																	117130667		2203	4300	6503	SO:0001583	missense	0				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117130667C>A	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.308G>T	6.37:g.117130667C>A	ENSP00000309493:p.Cys103Phe					GPRC6A_ENST00000530250.1_Missense_Mutation_p.C103F|GPRC6A_ENST00000368549.3_Missense_Mutation_p.C103F	p.C103F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	2	329	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	103					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.308G>T	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151866	0.78001	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.85171	-1.95;-1.95;-1.95	4.81	4.81	0.61882	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93383	0.7890	M	0.91038	3.17	0.42100	D	0.99133	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94198	0.7447	10	0.59425	D	0.04	.	18.0766	0.89428	0.0:1.0:0.0:0.0	.	103;103;103	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	F	103	ENSP00000309493:C103F;ENSP00000357537:C103F;ENSP00000433465:C103F	ENSP00000309493:C103F	C	-	2	0	GPRC6A	117237360	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	6.860000	0.75473	2.491000	0.84063	0.650000	0.86243	TGT		0.413	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			30	39	1	0	1.16021e-09	1	1.20958e-09	30	39				
SNX25	83891	broad.mit.edu	37	4	186263216	186263216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr4:186263216G>A	ENST00000504273.1	+	12	1935	c.1641G>A	c.(1639-1641)tgG>tgA	p.W547*	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Nonsense_Mutation_p.W547*			Q9H3E2	SNX25_HUMAN	sorting nexin 25	547	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CTAAGAACTGGACGGTCCCCA	0.433																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(1639-1641)tgG>tgA		sorting nexin 25							161.0	160.0	160.0					4																	186263216		2203	4300	6503	SO:0001587	stop_gained	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186263216G>A	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1641G>A	4.37:g.186263216G>A	ENSP00000426255:p.Trp547*					SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Nonsense_Mutation_p.W547*	p.W547*			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	12	1935	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	547			PX.		Q3ZT30|Q8N6K3	Nonsense_Mutation	SNP	ENST00000504273.1	37	c.1641G>A	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	42	9.277423	0.99122	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3289	19.7418	0.96234	0.0:0.0:1.0:0.0	.	.	.	.	X	547;547;80	.	ENSP00000264693:W80X	W	+	3	0	SNX25	186500210	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.829000	0.92055	2.671000	0.90904	0.643000	0.83706	TGG		0.433	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		58	99	0	0	0	1	0	58	99				
OR10A4	283297	broad.mit.edu	37	11	6898108	6898108	+	Missense_Mutation	SNP	T	T	C			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr11:6898108T>C	ENST00000379829.2	+	1	253	c.230T>C	c.(229-231)gTc>gCc	p.V77A		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	77					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCAACTTGGTCATTGTGCCC	0.458																																						ENST00000379829.2																			0				kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(229-231)gTc>gCc		olfactory receptor, family 10, subfamily A, member 4							151.0	138.0	143.0					11																	6898108		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898108T>C	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.230T>C	11.37:g.6898108T>C	ENSP00000369157:p.Val77Ala						p.V77A	NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	253	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	77					B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.230T>C	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	t	7.119	0.577604	0.13686	.	.	ENSG00000170782	ENST00000379829	T	0.00557	6.62	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	N	0.001070	T	0.00440	0.0014	N	0.12887	0.27	0.24807	N	0.992663	B	0.27679	0.185	B	0.36418	0.224	T	0.51395	-0.8711	10	0.46703	T	0.11	.	7.4235	0.27085	0.0:0.095:0.0:0.9049	.	77	Q9H209	O10A4_HUMAN	A	77	ENSP00000369157:V77A	ENSP00000369157:V77A	V	+	2	0	OR10A4	6854684	0.000000	0.05858	1.000000	0.80357	0.234000	0.25298	0.302000	0.19192	2.193000	0.70182	0.533000	0.62120	GTC		0.458	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		6	89	0	0	0	1	0	6	89				
DNAH12	201625	broad.mit.edu	37	3	57509313	57509313	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr3:57509313delT	ENST00000351747.2	-	4	456	c.276delA	c.(274-276)aaafs	p.K92fs	DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	92	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G93fs*7(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AACTCACTCCTTTTTTTTTCA	0.254																																						ENST00000351747.2																			2	Deletion - Frameshift(2)	p.G93fs*7(2)	lung(2)	breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(274-276)aafs		dynein, axonemal, heavy chain 12			,	40,140,4046		0,0,40,1,138,1934	20.0	22.0	21.0		,	4.3	1.0	3	dbSNP_126	21	45,231,7912		0,0,45,1,229,3819	no	codingComplex,codingComplex	DNAH12	NM_198564.3,NM_178504.4	,	0,0,85,2,367,5753	A1A1,A1A2,A1R,A2A2,A2R,RR		3.3708,4.2593,3.6733	,	,	57509313	85,371,11958	2183	4274	6457	SO:0001589	frameshift_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57509313delT	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.276delA	3.37:g.57509313delT	ENSP00000295937:p.Lys92fs					DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs	p.K92fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			4	456	-			92			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Frame_Shift_Del	DEL	ENST00000351747.2	37	c.276delA																																																																																					0.254	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		7	57						7	57	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21781718	21781718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr7:21781718delC	ENST00000409508.3	+	49	8119	c.8088delC	c.(8086-8088)aacfs	p.N2696fs	DNAH11_ENST00000328843.6_Frame_Shift_Del_p.N2703fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2703	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGATGTGTAACTTTTTACCCA	0.418									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(8107-8109)aafs		dynein, axonemal, heavy chain 11							120.0	114.0	116.0					7																	21781718		1873	4111	5984	SO:0001589	frameshift_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21781718delC	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8088delC	7.37:g.21781718delC	ENSP00000475939:p.Asn2696fs					DNAH11_ENST00000409508.3_Frame_Shift_Del_p.N2696fs	p.N2703fs			Q96DT5	DYH11_HUMAN			50	8140	+			2703			AAA 3 (By similarity).		Q9UJ82	Frame_Shift_Del	DEL	ENST00000409508.3	37	c.8109delC																																																																																					0.418	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		36	74						36	74	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			0							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT								NR_003934.1						0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		3	5						3	5	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105765409	105765409	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr10:105765409delA	ENST00000369755.3	+	10	2985	c.2440delA	c.(2440-2442)acafs	p.T814fs	SLK_ENST00000335753.4_Frame_Shift_Del_p.T814fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	814					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAAGATAGTTACAGATAGTGA	0.343																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(2440-2442)cafs		STE20-like kinase							103.0	102.0	102.0					10																	105765409		2203	4298	6501	SO:0001589	frameshift_variant	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105765409delA		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2440delA	10.37:g.105765409delA	ENSP00000358770:p.Thr814fs					SLK_ENST00000335753.4_Frame_Shift_Del_p.T814fs	p.T814fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	10	2985	+		Colorectal(252;0.178)	814					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Frame_Shift_Del	DEL	ENST00000369755.3	37	c.2440delA	CCDS7553.1																																																																																				0.343	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		33	35						33	35	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118513008	118513021	+	Frame_Shift_Del	DEL	CAGTGGTACCAGGA	CAGTGGTACCAGGA	-	rs543691017		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr11:118513008_118513021delCAGTGGTACCAGGA	ENST00000361417.2	+	14	3184_3197	c.2773_2786delCAGTGGTACCAGGA	c.(2773-2787)cagtggtaccaggagfs	p.QWYQE925fs	PHLDB1_ENST00000524713.1_Frame_Shift_Del_p.QWYQE68fs|PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000356063.5_Intron	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	925										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGACTTAGAGCAGTGGTACCAGGAGCTGATGGCC	0.64																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(2773-2787)gfs		pleckstrin homology-like domain, family B, member 1																																				SO:0001589	frameshift_variant	23187							g.chr11:118513008_118513021delCAGTGGTACCAGGA		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2773_2786delCAGTGGTACCAGGA	11.37:g.118513008_118513021delCAGTGGTACCAGGA	ENSP00000354498:p.Gln925fs					PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000356063.5_Intron|PHLDB1_ENST00000524713.1_Frame_Shift_Del_p.QWYQE68fs	p.QWYQE925fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	14	3184_3197	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	925					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Frame_Shift_Del	DEL	ENST00000361417.2	37	c.2773_2786delCAGTGGTACCAGGA	CCDS8401.1																																																																																				0.640	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		24	102						24	102	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	5						3	5	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579716	7579716	+	Frame_Shift_Del	DEL	G	G	-	rs397516438		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:7579716delG	ENST00000269305.4	-	3	269	c.80delC	c.(79-81)cctfs	p.P27fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs	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	27	Interaction with HRMT1L2.|Transcription activation (acidic).				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(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)	GTTGTTTTCAGGAAGTCTGAA	0.617		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"""		15	Whole gene deletion(8)|Deletion - Frameshift(7)	p.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(1)	large_intestine(5)|bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(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.(79-81)ctfs	Other conserved DNA damage response genes	tumor protein p53							42.0	42.0	42.0					17																	7579716		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7579716delG	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.80delC	17.37:g.7579716delG	ENSP00000269305:p.Pro27fs	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_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs	p.P27fs	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)	3	212	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	27			Interaction with HRMT1L2.|Transcription activation (acidic).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.80delC	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	37						37	37	---	---	---	---
CD79A	973	broad.mit.edu	37	19	42384999	42384999	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr19:42384999delG	ENST00000221972.3	+	5	818	c.633delG	c.(631-633)cagfs	p.Q211fs	ARHGEF1_ENST00000354532.3_5'Flank|ARHGEF1_ENST00000347545.4_5'Flank|ARHGEF1_ENST00000599846.1_5'Flank|CD79A_ENST00000444740.2_Frame_Shift_Del_p.Q173fs	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	211					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GCACCTACCAGGATGTGGGCA	0.627			"""O, S"""		DLBCL																																	ENST00000221972.3				Dom	yes		19	19q13.2	973	"""O, S"""	"""CD79a molecule, immunoglobulin-associated alpha"""			L			DLBCL		0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(631-633)cafs		CD79a molecule, immunoglobulin-associated alpha							35.0	28.0	30.0					19																	42384999		2203	4300	6503	SO:0001589	frameshift_variant	0				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity	g.chr19:42384999delG	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1698	protein-coding gene	gene with protein product		112205	"""CD79A antigen (immunoglobulin-associated alpha)"""	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.633delG	19.37:g.42384999delG	ENSP00000221972:p.Gln211fs					CD79A_ENST00000444740.2_Frame_Shift_Del_p.Q173fs	p.Q211fs	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN			5	818	+			211					A0N775|Q53FB8	Frame_Shift_Del	DEL	ENST00000221972.3	37	c.633delG	CCDS12589.1																																																																																				0.627	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			2	4						2	4	---	---	---	---
