#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
PLCE1	51196	broad.mit.edu	37	10	95791760	95791760	+	Frame_Shift_Del	DEL	G	G	-	rs573916830	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:95791760delG	ENST00000371380.3	+	1	1192	c.957delG	c.(955-957)aagfs	p.K319fs	PLCE1_ENST00000260766.3_Frame_Shift_Del_p.K319fs			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	319					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGCAAAAAGGAGCGATCCA	0.388																																						ENST00000371380.2		NA																	0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(955-957)aagfs		phospholipase C, epsilon 1							114.0	112.0	113.0					10																	95791760		1853	4088	5941	SO:0001589	frameshift_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791760delG		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.957delG	10.37:g.95791760delG	ENSP00000360431:p.Lys319fs	True	False		Somatic	2				PLCE1_ENST00000260766.3_Frame_Shift_Del_p.K319fs	p.K319fs			WXS	Illumina HiSeq	Phase_I	Q9P212	PLCE1_HUMAN			1	1192	+		Colorectal(252;0.0458)	319					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Frame_Shift_Del	DEL	ENST00000371380.3	37	c.957delG	CCDS41552.1																																																																																				0.388	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	0	NM_016341		10:95791760
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000398692.4_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
SETD1A	9739	broad.mit.edu	37	16	30977566	30977567	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:30977566_30977567delAG	ENST00000262519.8	+	8	3050_3051	c.2364_2365delAG	c.(2362-2367)gcaggcfs	p.G789fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	789					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCCGACAGCAGGCACCGTGGG	0.658																																						ENST00000262519.8		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(2362-2367)gcaggcfs		SET domain containing 1A																																				SO:0001589	frameshift_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977566_30977567delAG	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2364_2365delAG	16.37:g.30977566_30977567delAG	ENSP00000262519:p.Gly789fs	False	False		Somatic	1					p.G789fs	NM_014712.1	NP_055527.1	WXS	Illumina HiSeq	Phase_I	O15047	SET1A_HUMAN			8	3050_3051	+			789					A6NP62|Q6PIF3|Q8TAJ6	Frame_Shift_Del	DEL	ENST00000262519.8	37	c.2364_2365delAG	CCDS32435.1																																																																																				0.658	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	0	NM_014712		16:30977566
GAS7	8522	broad.mit.edu	37	17	9923188	9923189	+	Frame_Shift_Ins	INS	-	-	A	rs200563905		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:9923188_9923189insA	ENST00000432992.2	-	2	369_370	c.209_210insT	c.(208-210)ccgfs	p.P70fs	GAS7_ENST00000437099.2_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000323816.4_Frame_Shift_Ins_p.P10fs|GAS7_ENST00000540214.1_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000396115.2_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000542249.1_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000579158.1_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000585266.1_Frame_Shift_Ins_p.P10fs	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	70	Poly-Pro.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TTTCTTCTCCCGGCGGAGGGGG	0.54			T	MLL	AML*																																	ENST00000323816.4		NA		Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(16-18)ccgfs		growth arrest-specific 7																																				SO:0001589	frameshift_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9923188_9923189insA	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.209_210insT	17.37:g.9923188_9923189insA	ENSP00000407552:p.Pro70fs	True	False		Somatic	0				GAS7_ENST00000579158.1_Frame_Shift_Ins_p.P22fs|GAS7_ENST00000540214.1_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000432992.2_Frame_Shift_Ins_p.P70fs|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000585266.1_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000437099.2_Frame_Shift_Ins_p.P6fs|GAS7_ENST00000396115.1_Frame_Shift_Ins_p.P10fs|GAS7_ENST00000542249.1_Frame_Shift_Ins_p.P15fs	p.P6fs			WXS	Illumina HiSeq	Phase_I	O60861	GAS7_HUMAN			3	191_192	-			70			SH3.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Frame_Shift_Ins	INS	ENST00000432992.2	37	c.17_18insT	CCDS11152.1																																																																																				0.540	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	0	NM_003644, NM_201432, NM_201433		17:9923188
ZNF358	140467	broad.mit.edu	37	19	7584999	7584999	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:7584999delT	ENST00000597229.1	+	2	1041	c.871delT	c.(871-873)tacfs	p.Y291fs	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Frame_Shift_Del_p.Y291fs|MCOLN1_ENST00000264079.6_5'Flank	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	291					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CGAGCGGCCCTACCCGTGTCC	0.741																																						ENST00000597229.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(871-873)tacfs		zinc finger protein 358							11.0	13.0	12.0					19																	7584999		2176	4248	6424	SO:0001589	frameshift_variant	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584999delT	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.871delT	19.37:g.7584999delT	ENSP00000472305:p.Tyr291fs	True	False		Somatic	1				ZNF358_ENST00000394341.2_Frame_Shift_Del_p.Y291fs|CTD-2207O23.11_ENST00000602083.1_RNA	p.Y291fs	NM_018083.4	NP_060553.4	WXS	Illumina HiSeq	Phase_I	Q9NW07	ZN358_HUMAN			2	1041	+			291					Q9BTM7	Frame_Shift_Del	DEL	ENST00000597229.1	37	c.871delT	CCDS32890.2																																																																																				0.741	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1	0			19:7584999
RALGAPB	57148	broad.mit.edu	37	20	37186991	37186996	+	In_Frame_Del	DEL	ACCTGG	ACCTGG	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	ACCTGG	ACCTGG	-	-	ACCTGG	ACCTGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:37186991_37186996delACCTGG	ENST00000262879.6	+	23	3710_3715	c.3426_3431delACCTGG	c.(3424-3432)atacctgga>ata	p.PG1143del	RALGAPB_ENST00000397038.1_In_Frame_Del_p.PG921del|RALGAPB_ENST00000397040.1_In_Frame_Del_p.PG1143del|RALGAPB_ENST00000397042.3_In_Frame_Del_p.PG1139del			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1143					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATTCCACGATACCTGGATTTTTTGAT	0.398																																						ENST00000262879.6		NA																	0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(3424-3432)atacctgga>ata		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001651	inframe_deletion	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37186991_37186996delACCTGG	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3426_3431delACCTGG	20.37:g.37186991_37186996delACCTGG	ENSP00000262879:p.Pro1143_Gly1144del	False	False		Somatic	1				RALGAPB_ENST00000397040.1_In_Frame_Del_p.PG1143del|RALGAPB_ENST00000397038.1_In_Frame_Del_p.PG921del|RALGAPB_ENST00000397042.3_In_Frame_Del_p.PG1139del	p.PG1143del			WXS	Illumina HiSeq	Phase_I	Q86X10	RLGPB_HUMAN			23	3710_3715	+			1143					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	In_Frame_Del	DEL	ENST00000262879.6	37	c.3426_3431delACCTGG	CCDS13305.1																																																																																				0.398	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	0	NM_020336		20:37186991
DGCR8	54487	broad.mit.edu	37	22	20077537	20077538	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:20077537_20077538delTT	ENST00000351989.3	+	5	1491_1492	c.1062_1063delTT	c.(1060-1065)cattatfs	p.HY354fs	DGCR8_ENST00000407755.1_Frame_Shift_Del_p.HY354fs|DGCR8_ENST00000383024.2_Frame_Shift_Del_p.HY354fs	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	354	Necessary for heme-binding and pri-miRNA processing.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CTTGTCTGCATTATAAGAAAAT	0.505																																						ENST00000351989.3		NA																	0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1060-1065)cattatfs		DGCR8 microprocessor complex subunit																																				SO:0001589	frameshift_variant	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20077537_20077538delTT	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1062_1063delTT	22.37:g.20077537_20077538delTT	ENSP00000263209:p.His354fs	False	False		Somatic	2				DGCR8_ENST00000383024.2_Frame_Shift_Del_p.HY354fs|DGCR8_ENST00000407755.1_Frame_Shift_Del_p.HY354fs	p.HY354fs	NM_022720.6	NP_073557.3	WXS	Illumina HiSeq	Phase_I	Q8WYQ5	DGCR8_HUMAN			5	1491_1492	+	Colorectal(54;0.0993)		354			Necessary for heme-binding and pri-miRNA processing.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Frame_Shift_Del	DEL	ENST00000351989.3	37	c.1062_1063delTT	CCDS13773.1																																																																																				0.505	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1	0			22:20077537
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-	rs547492676	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:15489334}.		cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65																																						ENST00000297267.9		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3535-3537)gacdel		fibronectin type III domain containing 1																																				SO:0001651	inframe_deletion	84624					extracellular region		g.chr6:159655079_159655081delGAC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3535_3537delGAC	6.37:g.159655082_159655084delGAC	ENSP00000297267:p.Asp1180del	False	False		Somatic	2				FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	p.D1180del	NM_032532.2	NP_115921.2	WXS	Illumina HiSeq	Phase_I	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3735_3737	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1180		D -> E (in dbSNP:rs420054).			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	In_Frame_Del	DEL	ENST00000297267.9	37	c.3535_3537delGAC	CCDS47512.1																																																																																				0.650	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	0	NM_032532		6:159655079
CDKN2A	1029	broad.mit.edu	37	9	21974769	21974770	+	In_Frame_Ins	INS	-	-	GGCCGT			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:21974769_21974770insGGCCGT	ENST00000304494.5	-	1	327_328	c.57_58insACGGCC	c.(55-60)gccgcg>gccACGGCCgcg	p.18_19insAT	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_In_Frame_Ins_p.18_19insAT|CDKN2A_ENST00000446177.1_In_Frame_Ins_p.18_19insAT|CDKN2A_ENST00000579122.1_In_Frame_Ins_p.18_19insAT|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	18			A -> ATA (in CMM2; loss of CDK4 binding).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.A20T(2)|p.S12fs*6(1)|p.0(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.A20_A21del(1)|p.A20S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCCGGGCCGCGGCCGTGGCCA	0.743		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1355	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(6)|Deletion - Frameshift(4)|Insertion - In frame(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.0?(1315)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.A20T(2)|p.S12fs*6(1)|p.0(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.A20_A21del(1)|p.A20S(1)	haematopoietic_and_lymphoid_tissue(279)|skin(169)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(53)|pleura(52)|upper_aerodigestive_tract(47)|pancreas(35)|ovary(34)|kidney(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)|adrenal_gland(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CI983050	CDKN2A	I		c.(55-60)gccgcg>gccACGGCCgcg		cyclin-dependent kinase inhibitor 2A																																				SO:0001652	inframe_insertion	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974769_21974770insGGCCGT	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.52_57dupACGGCC	9.37:g.21974770_21974775dupGGCCGT	ENSP00000307101:p.Ala17_Thr18dup	False	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	1				CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_In_Frame_Ins_p.18_19insAT|CDKN2A_ENST00000498124.1_In_Frame_Ins_p.18_19insAT|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_In_Frame_Ins_p.18_19insAT|CDKN2A_ENST00000361570.3_Intron	p.18_19insAT	NM_000077.4	NP_000068.1	WXS	Illumina HiSeq	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	327_328	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	18					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	In_Frame_Ins	INS	ENST00000304494.5	37	c.57_58insACGGCC	CCDS6510.1																																																																																				0.743	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21974769
MYOZ2	51778	broad.mit.edu	37	4	120079300	120079300	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:120079300G>T	ENST00000307128.5	+	4	583	c.370G>T	c.(370-372)Gct>Tct	p.A124S		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGACAACATTGCTCCAGGTAA	0.438																																						ENST00000307128.5		NA																	0				endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(370-372)Gct>Tct		myozenin 2							120.0	114.0	116.0					4																	120079300		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120079300G>T	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.370G>T	4.37:g.120079300G>T	ENSP00000306997:p.Ala124Ser	False	False		Somatic	0					p.A124S	NM_016599.4	NP_057683.1	WXS	Illumina HiSeq	Phase_I	Q9NPC6	MYOZ2_HUMAN			4	583	+			124						Missense_Mutation	SNP	ENST00000307128.5	37	c.370G>T	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066197	0.93898	.	.	ENSG00000172399	ENST00000307128	T	0.66815	-0.23	5.55	5.55	0.83447	.	0.050518	0.85682	D	0.000000	T	0.81650	0.4867	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82497	-0.0428	10	0.66056	D	0.02	-16.6068	19.4973	0.95079	0.0:0.0:1.0:0.0	.	124	Q9NPC6	MYOZ2_HUMAN	S	124	ENSP00000306997:A124S	ENSP00000306997:A124S	A	+	1	0	MYOZ2	120298748	1.000000	0.71417	0.994000	0.49952	0.862000	0.49288	8.580000	0.90784	2.608000	0.88229	0.655000	0.94253	GCT		0.438	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2	0			4:120079300
FAM71F1	84691	broad.mit.edu	37	7	128363345	128363345	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:128363345C>T	ENST00000315184.5	+	4	835	c.782C>T	c.(781-783)gCc>gTc	p.A261V	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	261								p.A261V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAGATTTTTGCCGACTTACAC	0.502																																						ENST00000315184.5		NA																	1	Substitution - Missense(1)	p.A261V(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(781-783)gCc>gTc		family with sequence similarity 71, member F1							118.0	116.0	117.0					7																	128363345		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128363345C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.782C>T	7.37:g.128363345C>T	ENSP00000326652:p.Ala261Val	False	False		Somatic	0				FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V	p.A261V	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	WXS	Illumina HiSeq	Phase_I	Q96KD3	F71F1_HUMAN			4	835	+			261					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.782C>T	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717581	0.48622	.	.	ENSG00000135248	ENST00000485070;ENST00000315184;ENST00000466842	T;T;T	0.24151	1.87;3.23;1.92	5.2	3.36	0.38483	.	0.643829	0.14692	N	0.304119	T	0.17365	0.0417	L	0.33485	1.01	0.26152	N	0.980124	B;B;B;B;B	0.18310	0.011;0.01;0.003;0.002;0.027	B;B;B;B;B	0.15052	0.012;0.006;0.004;0.002;0.006	T	0.17992	-1.0351	10	0.30854	T	0.27	-2.5683	6.5261	0.22303	0.1782:0.7313:0.0:0.0905	.	153;261;261;261;162	B4DY15;F8WC62;Q96KD3-2;Q96KD3;Q8NA48	.;.;.;F71F1_HUMAN;.	V	162;261;117	ENSP00000418192:A162V;ENSP00000326652:A261V;ENSP00000417930:A117V	ENSP00000326652:A261V	A	+	2	0	FAM71F1	128150581	0.133000	0.22466	0.998000	0.56505	0.995000	0.86356	0.071000	0.14594	0.862000	0.35528	0.555000	0.69702	GCC		0.502	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	0	NM_032599		7:128363345
ADARB1	104	broad.mit.edu	37	21	46596475	46596475	+	Missense_Mutation	SNP	C	C	T	rs142476560		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr21:46596475C>T	ENST00000360697.3	+	2	874	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	ADARB1_ENST00000389863.4_Missense_Mutation_p.R287W|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000539173.1_Missense_Mutation_p.R287W|ADARB1_ENST00000348831.4_Missense_Mutation_p.R287W			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	287	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TGCCAAGGCCCGGGCTGCGCA	0.572																																						ENST00000539173.1		NA																	0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(859-861)Cgg>Tgg		adenosine deaminase, RNA-specific, B1							52.0	56.0	55.0					21																	46596475		2203	4300	6503	SO:0001583	missense	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46596475C>T	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.859C>T	21.37:g.46596475C>T	ENSP00000353920:p.Arg287Trp	True	False		Somatic	0				ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000348831.4_Missense_Mutation_p.R287W|ADARB1_ENST00000389863.4_Missense_Mutation_p.R287W|ADARB1_ENST00000360697.3_Missense_Mutation_p.R287W	p.R287W	NM_015833.3	NP_056648.1	WXS	Illumina HiSeq	Phase_I	P78563	RED1_HUMAN		Colorectal(79;0.115)	4	1294	+			287			DRBM 2.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	37	c.859C>T	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077779	0.76528	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.14	5.14	0.70334	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.061314	0.64402	D	0.000003	D	0.86727	0.6002	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.998;0.998	D;D;D;D;D	0.77004	0.957;0.989;0.975;0.957;0.957	D	0.87690	0.2553	10	0.72032	D	0.01	-46.512	11.5532	0.50733	0.1787:0.8213:0.0:0.0	.	314;287;287;315;287	P78563-4;P78563;Q4AE77;G5E9B4;P78563-3	.;RED1_HUMAN;.;.;.	W	287	ENSP00000441897:R287W;ENSP00000374513:R287W;ENSP00000015877:R287W;ENSP00000353920:R287W	ENSP00000015877:R287W	R	+	1	2	ADARB1	45420903	0.994000	0.37717	1.000000	0.80357	0.976000	0.68499	2.697000	0.47060	2.552000	0.86080	0.655000	0.94253	CGG		0.572	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	0	NM_015833		21:46596475
PTPRS	5802	broad.mit.edu	37	19	5244288	5244288	+	Silent	SNP	G	G	A	rs144956737		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:5244288G>A	ENST00000587303.1	-	10	1293	c.1194C>T	c.(1192-1194)taC>taT	p.Y398Y	PTPRS_ENST00000588012.1_Silent_p.Y385Y|PTPRS_ENST00000592099.1_Silent_p.Y385Y|PTPRS_ENST00000348075.2_Silent_p.Y385Y|PTPRS_ENST00000353284.2_Silent_p.Y385Y|PTPRS_ENST00000357368.4_Silent_p.Y398Y|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.Y394Y|PTPRS_ENST00000372412.4_Silent_p.Y399Y			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	398	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CCCAGATCTCGTACTCCGAGT	0.637																																						ENST00000372412.4		NA																	0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1195-1197)taC>taT		protein tyrosine phosphatase, receptor type, S		G	,,,	1,4405	2.1+/-5.4	0,1,2202	69.0	58.0	62.0		1194,1155,1155,1167	-4.9	0.9	19	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	398/1949,385/1502,385/1911,389/1506	5244288	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244288G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1194C>T	19.37:g.5244288G>A		False	False		Somatic	0				PTPRS_ENST00000592099.1_Silent_p.Y385Y|PTPRS_ENST00000348075.2_Silent_p.Y385Y|PTPRS_ENST00000353284.2_Silent_p.Y385Y|PTPRS_ENST00000357368.4_Silent_p.Y398Y|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.Y394Y|PTPRS_ENST00000588012.1_Silent_p.Y385Y|PTPRS_ENST00000587303.1_Silent_p.Y398Y	p.Y399Y			WXS	Illumina HiSeq	Phase_I	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1430	-			398			Fibronectin type-III 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.1197C>T	CCDS45930.1																																																																																				0.637	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	0			19:5244288
SDK1	221935	broad.mit.edu	37	7	4188979	4188979	+	Silent	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:4188979C>T	ENST00000404826.2	+	30	4648	c.4509C>T	c.(4507-4509)agC>agT	p.S1503S	SDK1_ENST00000389531.3_Silent_p.S1503S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1503	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCCGGGCAGCGACGGGGCCT	0.677																																						ENST00000404826.2		NA																	0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4507-4509)agC>agT		sidekick cell adhesion molecule 1							27.0	28.0	27.0					7																	4188979		2202	4299	6501	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4188979C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4509C>T	7.37:g.4188979C>T		False	False		Somatic	0				SDK1_ENST00000389531.3_Silent_p.S1503S	p.S1503S	NM_152744.3	NP_689957.3	WXS	Illumina HiSeq	Phase_I	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	30	4648	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1503			Fibronectin type-III 9.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.4509C>T	CCDS34590.1																																																																																				0.677	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	0	NM_152744		7:4188979
TNN	63923	broad.mit.edu	37	1	175105027	175105027	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:175105027G>T	ENST00000239462.4	+	16	3490	c.3377G>T	c.(3376-3378)tGg>tTg	p.W1126L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1126	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.W1126*(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTCAAGCGATGGAGGAGCTAT	0.537																																						ENST00000239462.4		NA																	1	Substitution - Nonsense(1)	p.W1126*(1)	large_intestine(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3376-3378)tGg>tTg		tenascin N							151.0	151.0	151.0					1																	175105027		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175105027G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3377G>T	1.37:g.175105027G>T	ENSP00000239462:p.Trp1126Leu	False	False		Somatic	0					p.W1126L	NM_022093.1	NP_071376.1	WXS	Illumina HiSeq	Phase_I	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	16	3490	+		Breast(1374;0.000962)	1126			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3377G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912742	0.92178	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	D	0.86865	-2.18	5.5	5.5	0.81552	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.115488	0.64402	D	0.000005	D	0.96614	0.8895	H	0.98818	4.34	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98254	1.0495	10	0.87932	D	0	.	19.003	0.92841	0.0:0.0:1.0:0.0	.	1126	Q9UQP3	TENN_HUMAN	L	1126;949	ENSP00000239462:W1126L	ENSP00000239462:W1126L	W	+	2	0	TNN	173371650	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.420000	0.97426	2.555000	0.86185	0.655000	0.94253	TGG		0.537	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	0	XM_040527		1:175105027
NRG1	3084	broad.mit.edu	37	8	32505842	32505842	+	Intron	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:32505842G>A	ENST00000405005.3	+	5	502				NRG1_ENST00000341377.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000520502.2_Silent_p.T202T|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000356819.4_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGGTGAGAACGCCCAAGTCAG	0.493																																						ENST00000520502.2		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(604-606)acG>acA		neuregulin 1							86.0	72.0	77.0					8																	32505842		2203	4300	6503	SO:0001627	intron_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32505842G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31439G>A	8.37:g.32505842G>A		True	False		Somatic	0				NRG1_ENST00000405005.3_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Intron	p.T202T	NM_013959.3	NP_039253.1	WXS	Illumina HiSeq	Phase_I	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	1	606	+		Breast(100;0.203)	463			EGF-like.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	c.606G>A	CCDS6085.1																																																																																				0.493	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1	0			8:32505842
VPS39	23339	broad.mit.edu	37	15	42457994	42457994	+	Silent	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:42457994C>T	ENST00000348544.4	-	18	1733	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P	VPS39_ENST00000318006.5_Silent_p.P567P			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	578					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTCCACTTCCGGGAGATCTT	0.473																																						ENST00000318006.5		NA																	0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1699-1701)ccG>ccA		vacuolar protein sorting 39 homolog (S. cerevisiae)							76.0	77.0	77.0					15																	42457994		2203	4299	6502	SO:0001819	synonymous_variant	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42457994C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1734G>A	15.37:g.42457994C>T		True	False		Somatic	0				VPS39_ENST00000348544.4_Silent_p.P578P	p.P567P	NM_015289.2	NP_056104.2	WXS	Illumina HiSeq	Phase_I	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	17	1863	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	578					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	c.1701G>A	CCDS10083.1																																																																																				0.473	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	0	NM_015289		15:42457994
ADAMTSL3	57188	broad.mit.edu	37	15	84705713	84705713	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:84705713G>A	ENST00000286744.5	+	29	5167	c.4943G>A	c.(4942-4944)cGg>cAg	p.R1648Q	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1648Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1648						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTTCCTGGCGGCACTGTCTT	0.527																																						ENST00000286744.5		NA																	0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4942-4944)cGg>cAg		ADAMTS-like 3							87.0	79.0	82.0					15																	84705713		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84705713G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4943G>A	15.37:g.84705713G>A	ENSP00000286744:p.Arg1648Gln	False	False		Somatic	0				ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1648Q	p.R1648Q	NM_207517.2	NP_997400.2	WXS	Illumina HiSeq	Phase_I	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		29	5167	+			1648					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4943G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	6.948	0.544751	0.13312	.	.	ENSG00000156218	ENST00000286744	T	0.61274	0.12	5.19	2.26	0.28386	.	1.096740	0.07323	N	0.878014	T	0.31888	0.0811	N	0.11364	0.135	0.27026	N	0.964354	B;B	0.21452	0.033;0.056	B;B	0.10450	0.005;0.002	T	0.22661	-1.0210	10	0.02654	T	1	.	7.0906	0.25282	0.4565:0.0:0.5435:0.0	.	1648;1648	P82987-2;P82987	.;ATL3_HUMAN	Q	1648	ENSP00000286744:R1648Q	ENSP00000286744:R1648Q	R	+	2	0	ADAMTSL3	82496717	1.000000	0.71417	0.966000	0.40874	0.998000	0.95712	1.780000	0.38634	0.701000	0.31803	0.655000	0.94253	CGG		0.527	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	0	NM_207517		15:84705713
PCDHA3	56145	broad.mit.edu	37	5	140182409	140182409	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:140182409C>T	ENST00000522353.2	+	1	1627	c.1627C>T	c.(1627-1629)Ccg>Tcg	p.P543S	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P543S|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCGTGCCGCCTCTGGG	0.682																																						ENST00000522353.2		NA																	0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1627-1629)Ccg>Tcg									85.0	86.0	86.0					5																	140182409		2203	4298	6501	SO:0001583	missense	0							g.chr5:140182409C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1627C>T	5.37:g.140182409C>T	ENSP00000429808:p.Pro543Ser	False	False		Somatic	0				PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P543S	p.P543S	NM_018906.2	NP_061729.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1627	+			NA					O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1627C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	14.59	2.581320	0.46006	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.56776	0.44;0.44	4.68	4.68	0.58851	Cadherin (4);Cadherin-like (1);	0.000000	0.41605	U	0.000845	T	0.75744	0.3891	M	0.88031	2.925	0.41141	D	0.985959	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.973	T	0.81315	-0.0988	10	0.87932	D	0	.	13.7316	0.62792	0.0:0.8455:0.1545:0.0	.	543;543	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	S	543	ENSP00000429808:P543S;ENSP00000434086:P543S	ENSP00000429808:P543S	P	+	1	0	PCDHA3	140162593	1.000000	0.71417	0.995000	0.50966	0.170000	0.22686	7.386000	0.79775	2.340000	0.79590	0.306000	0.20318	CCG		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	0	NM_018906		5:140182409
AKAP6	9472	broad.mit.edu	37	14	33291973	33291973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:33291973C>T	ENST00000280979.4	+	13	5124	c.4954C>T	c.(4954-4956)Cga>Tga	p.R1652*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1652	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAGATAAAACGAAGTGTTTC	0.418																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4		NA																	0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(4954-4956)Cga>Tga		A kinase (PRKA) anchor protein 6							71.0	71.0	71.0					14																	33291973		2203	4300	6503	SO:0001587	stop_gained	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291973C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4954C>T	14.37:g.33291973C>T	ENSP00000280979:p.Arg1652*	True	False		Somatic	0				AKAP6_ENST00000557272.1_Intron	p.R1652*	NM_004274.4	NP_004265.3	WXS	Illumina HiSeq	Phase_I	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5124	+	Breast(36;0.0388)|Prostate(35;0.15)		1652			Ser-rich.		A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	ENST00000280979.4	37	c.4954C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	44	10.633637	0.99441	.	.	ENSG00000151320	ENST00000280979	.	.	.	5.98	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6398	15.1411	0.72612	0.3707:0.6293:0.0:0.0	.	.	.	.	X	1652	.	ENSP00000280979:R1652X	R	+	1	2	AKAP6	32361724	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.452000	0.60054	0.371000	0.24564	-0.188000	0.12872	CGA		0.418	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	0	NM_004274		14:33291973
PTPRN2	5799	broad.mit.edu	37	7	157926586	157926586	+	Missense_Mutation	SNP	C	C	T	rs142388788		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:157926586C>T	ENST00000389418.4	-	9	1348	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	PTPRN2_ENST00000404321.2_Missense_Mutation_p.V470I|PTPRN2_ENST00000389413.3_Missense_Mutation_p.V447I|PTPRN2_ENST00000389416.4_Missense_Mutation_p.V430I|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V409I	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	447					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGGCTCTTGACGTTCTCCACT	0.612																																						ENST00000389413.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(1339-1341)Gtc>Atc		protein tyrosine phosphatase, receptor type, N polypeptide 2			ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	70.0	74.0	73.0		1339,1288,1339	2.9	0.0	7	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	447/1016,430/999,447/987	157926586	1,13005	2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157926586C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1339G>A	7.37:g.157926586C>T	ENSP00000374069:p.Val447Ile	False	False		Somatic	0				PTPRN2_ENST00000389418.4_Missense_Mutation_p.V447I|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V470I|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V409I|PTPRN2_ENST00000389416.4_Missense_Mutation_p.V430I	p.V447I	NM_130843.2	NP_570858.2	WXS	Illumina HiSeq	Phase_I	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	9	1442	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	447					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.1339G>A	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997688	0.35226	0.0	1.16E-4	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.07327	3.29;3.2;3.26;3.29;3.25	3.78	2.88	0.33553	.	0.310886	0.20844	U	0.084645	T	0.05181	0.0138	L	0.32530	0.975	0.26315	N	0.977769	P;P;P;P;P	0.45902	0.868;0.792;0.868;0.792;0.792	B;B;B;B;B	0.30572	0.117;0.055;0.117;0.055;0.055	T	0.32214	-0.9915	10	0.56958	D	0.05	.	9.1024	0.36676	0.0:0.89:0.0:0.11	.	470;409;447;430;447	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	I	409;447;430;447;470	ENSP00000387114:V409I;ENSP00000374064:V447I;ENSP00000374067:V430I;ENSP00000374069:V447I;ENSP00000385464:V470I	ENSP00000374064:V447I	V	-	1	0	PTPRN2	157619347	0.443000	0.25641	0.048000	0.18961	0.043000	0.13939	1.614000	0.36911	0.681000	0.31386	0.585000	0.79938	GTC		0.612	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1	0			7:157926586
DOCK5	80005	broad.mit.edu	37	8	25193885	25193885	+	Silent	SNP	T	T	C	rs200618924		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:25193885T>C	ENST00000276440.7	+	22	2367	c.2323T>C	c.(2323-2325)Ttg>Ctg	p.L775L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	775					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGTGCTCTACTTGAGGTAATG	0.448													T|||	1	0.000199681	0.0	0.0	5008	,	,		22263	0.001		0.0	False		,,,				2504	0.0				Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2323-2325)Ttg>Ctg		dedicator of cytokinesis 5							97.0	85.0	89.0					8																	25193885		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25193885T>C		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2323T>C	8.37:g.25193885T>C		False	False		Somatic	0					p.L775L	NM_024940.6	NP_079216.4	WXS	Illumina HiSeq	Phase_I	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	22	2367	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	775					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.2323T>C	CCDS6047.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	9.240	1.038124	0.19669	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.76	-4.24	0.03777	.	0.000000	0.64402	D	0.000001	T	0.64875	0.2638	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65348	-0.6190	5	.	.	.	.	15.9667	0.79979	0.0:0.7662:0.0:0.2338	.	.	.	.	P	546	.	.	L	+	2	0	DOCK5	25249802	0.795000	0.28851	0.949000	0.38748	0.803000	0.45373	-0.041000	0.12084	-0.567000	0.06046	-0.263000	0.10527	CTT		0.448	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	0	NM_024940		8:25193885
TENM2	57451	broad.mit.edu	37	5	167489122	167489122	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:167489122G>A	ENST00000518659.1	+	7	1406	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q	TENM2_ENST00000519204.1_Missense_Mutation_p.R335Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R289Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R224Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R456Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	456					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTTGGTCGGCGGGTAACACAA	0.468																																						ENST00000519204.1		NA																	0					NA						c.(1003-1005)cGg>cAg		teneurin transmembrane protein 2							83.0	86.0	86.0					5																	167489122		1854	4100	5954	SO:0001583	missense	57451							g.chr5:167489122G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1367G>A	5.37:g.167489122G>A	ENSP00000429430:p.Arg456Gln	True	False		Somatic	0				TENM2_ENST00000518659.1_Missense_Mutation_p.R456Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R456Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R224Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R289Q	p.R335Q			WXS	Illumina HiSeq	Phase_I					6	1122	+			NA					Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.1004G>A		.	.	.	.	.	.	.	.	.	.	G	12.00	1.805851	0.31961	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.63	4.76	0.60689	.	0.188735	0.42420	D	0.000705	T	0.15392	0.0371	L	0.38175	1.15	0.18873	N	0.999983	B;B;B	0.28971	0.021;0.229;0.044	B;B;B	0.21546	0.005;0.035;0.022	T	0.17077	-1.0381	10	0.16420	T	0.52	.	12.5128	0.56015	0.1385:0.0:0.8615:0.0	.	456;224;335	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	Q	456;456;335;224;289	ENSP00000429430:R456Q;ENSP00000438635:R456Q;ENSP00000428964:R335Q;ENSP00000427874:R224Q;ENSP00000384905:R289Q	ENSP00000384905:R289Q	R	+	2	0	ODZ2	167421700	1.000000	0.71417	0.338000	0.25549	0.975000	0.68041	6.654000	0.74387	1.378000	0.46305	0.655000	0.94253	CGG		0.468	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	0	NM_001122679		5:167489122
VSIG1	340547	broad.mit.edu	37	X	107316507	107316507	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:107316507G>A	ENST00000217957.5	+	5	713	c.596G>A	c.(595-597)gGa>gAa	p.G199E	VSIG1_ENST00000415430.3_Missense_Mutation_p.G235E	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	199	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TTGGTCATTGGAAATCTGACA	0.418																																						ENST00000415430.3		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(703-705)gGa>gAa		V-set and immunoglobulin domain containing 1							231.0	213.0	219.0					X																	107316507		2203	4300	6503	SO:0001583	missense	340547					integral to membrane		g.chrX:107316507G>A	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.596G>A	X.37:g.107316507G>A	ENSP00000217957:p.Gly199Glu	True	False		Somatic	0				VSIG1_ENST00000217957.5_Missense_Mutation_p.G199E	p.G235E	NM_001170553.1	NP_001164024.1	WXS	Illumina HiSeq	Phase_I	Q86XK7	VSIG1_HUMAN			6	865	+			199					C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	c.704G>A	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786560	0.70337	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.11495	2.77;2.77	5.27	4.41	0.53225	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.207594	0.40908	D	0.000995	T	0.12944	0.0314	N	0.16790	0.44	0.42936	D	0.99433	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.985	T	0.13845	-1.0494	10	0.02654	T	1	.	9.9443	0.41600	0.0969:0.0:0.9031:0.0	.	235;199	C9J4P2;Q86XK7	.;VSIG1_HUMAN	E	235;199	ENSP00000402219:G235E;ENSP00000217957:G199E	ENSP00000217957:G199E	G	+	2	0	VSIG1	107203163	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.976000	0.56867	1.198000	0.43158	0.513000	0.50165	GGA		0.418	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	0	NM_182607		X:107316507
FSCN1	6624	broad.mit.edu	37	7	5644983	5644983	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:5644983G>A	ENST00000382361.3	+	5	1474	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	FSCN1_ENST00000340250.6_Missense_Mutation_p.E433K	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	454					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CTTCTTCTTCGAGTTCTGCGA	0.617																																						ENST00000382361.3		NA																	0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1360-1362)Gag>Aag		fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)							63.0	58.0	60.0					7																	5644983		2203	4300	6503	SO:0001583	missense	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5644983G>A	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1360G>A	7.37:g.5644983G>A	ENSP00000371798:p.Glu454Lys	True	False		Somatic	0				FSCN1_ENST00000340250.6_Missense_Mutation_p.E433K	p.E454K	NM_003088.3	NP_003079.1	WXS	Illumina HiSeq	Phase_I	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	5	1474	+		Ovarian(82;0.0694)	454					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	c.1360G>A	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060521	0.93846	.	.	ENSG00000075618	ENST00000340250;ENST00000382361;ENST00000535097	T;T	0.52057	0.68;0.68	4.0	4.0	0.46444	Fascin domain (1);Actin cross-linking (1);	0.062034	0.64402	D	0.000007	T	0.45377	0.1339	M	0.62209	1.925	0.80722	D	1	P	0.50443	0.935	B	0.39068	0.289	T	0.59069	-0.7523	10	0.87932	D	0	-0.2446	15.5031	0.75716	0.0:0.0:1.0:0.0	.	454	Q16658	FSCN1_HUMAN	K	433;454;176	ENSP00000339729:E433K;ENSP00000371798:E454K	ENSP00000339729:E433K	E	+	1	0	FSCN1	5611509	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	9.420000	0.97426	1.944000	0.56390	0.549000	0.68633	GAG		0.617	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	0	NM_003088		7:5644983
SETBP1	26040	broad.mit.edu	37	18	42530405	42530405	+	Missense_Mutation	SNP	G	G	A	rs367742803		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:42530405G>A	ENST00000282030.5	+	4	1396	c.1100G>A	c.(1099-1101)gGg>gAg	p.G367E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	367						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AATACAGAAGGGAAAAGGGAA	0.448									Schinzel-Giedion syndrome																													ENST00000282030.5		NA																	0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(1099-1101)gGg>gAg		SET binding protein 1							65.0	65.0	65.0					18																	42530405		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530405G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1100G>A	18.37:g.42530405G>A	ENSP00000282030:p.Gly367Glu	True	False		Somatic	0					p.G367E	NM_015559.2	NP_056374.2	WXS	Illumina HiSeq	Phase_I	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1396	+			367					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1100G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702158	0.48307	.	.	ENSG00000152217	ENST00000282030	T	0.37058	1.22	5.78	5.78	0.91487	.	0.166529	0.53938	D	0.000041	T	0.31358	0.0794	L	0.27053	0.805	0.36681	D	0.87903	P	0.38597	0.639	B	0.35655	0.207	T	0.34551	-0.9824	10	0.87932	D	0	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	367	Q9Y6X0	SETBP_HUMAN	E	367	ENSP00000282030:G367E	ENSP00000282030:G367E	G	+	2	0	SETBP1	40784403	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	3.539000	0.53604	2.894000	0.99253	0.655000	0.94253	GGG		0.448	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	0	NM_001130110		18:42530405
LDB2	9079	broad.mit.edu	37	4	16504411	16504411	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:16504411G>A	ENST00000304523.5	-	8	1300	c.977C>T	c.(976-978)aCg>aTg	p.T326M	RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.T324M|LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	326	LIM-binding domain (LID). {ECO:0000250}.				epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						ATCATATTGCGTGTTTTCTAA	0.537																																						ENST00000304523.5		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.(976-978)aCg>aTg		LIM domain binding 2							238.0	209.0	219.0					4																	16504411		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16504411G>A	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.977C>T	4.37:g.16504411G>A	ENSP00000306772:p.Thr326Met	False	False		Somatic	0				LDB2_ENST00000502640.1_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.T324M|LDB2_ENST00000441778.2_3'UTR	p.T326M	NM_001290.3	NP_001281.1	WXS	Illumina HiSeq	Phase_I	O43679	LDB2_HUMAN			8	1300	-			326			LIM-binding domain (LID) (By similarity).		O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.977C>T	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030178|3.030178	0.54790|0.54790	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000304523	.|T;T	.|0.26810	.|1.71;1.71	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.50531|0.50531	0.1621|0.1621	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.998;1.0;1.0	.|D;P;P;D	.|0.75020	.|0.985;0.899;0.891;0.949	T|T	0.43491|0.43491	-0.9388|-0.9388	5|10	.|0.45353	.|T	.|0.12	-13.6093|-13.6093	18.3199|18.3199	0.90234|0.90234	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|290;324;326;300	.|B7Z6D0;G5E9Y7;O43679;O43679-3	.|.;.;LDB2_HUMAN;.	C|M	247|324;326	.|ENSP00000422552:T324M;ENSP00000306772:T326M	.|ENSP00000306772:T326M	R|T	-|-	1|2	0|0	LDB2|LDB2	16113509|16113509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.537	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2	0			4:16504411
KIAA1522	57648	broad.mit.edu	37	1	33237860	33237860	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:33237860G>A	ENST00000373480.1	+	6	3006	c.2903G>A	c.(2902-2904)cGc>cAc	p.R968H	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.R1027H|YARS_ENST00000469100.1_5'Flank|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R979H	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	968	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTGTGGCCCGCAAGCCGTCT	0.662																																						ENST00000401073.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(3079-3081)cGc>cAc		KIAA1522							30.0	36.0	34.0					1																	33237860		1900	4100	6000	SO:0001583	missense	57648							g.chr1:33237860G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2903G>A	1.37:g.33237860G>A	ENSP00000362579:p.Arg968His	True	False		Somatic	0				KIAA1522_ENST00000373481.3_Missense_Mutation_p.R979H|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R968H	p.R1027H	NM_020888.2	NP_065939.2	WXS	Illumina HiSeq	Phase_I	Q9P206	K1522_HUMAN			6	3150	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	968					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.3080G>A	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043295	0.75732	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.16597	2.33;2.34;2.35	5.05	4.14	0.48551	.	0.086750	0.45867	D	0.000333	T	0.20941	0.0504	M	0.61703	1.905	0.30845	N	0.73524	D;D;D	0.57257	0.979;0.979;0.979	P;P;P	0.46049	0.502;0.502;0.502	T	0.16541	-1.0399	10	0.46703	T	0.11	-11.6125	8.9717	0.35910	0.2107:0.0:0.7892:0.0	.	979;968;1027	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	H	1027;979;968	ENSP00000383851:R1027H;ENSP00000362580:R979H;ENSP00000362579:R968H	ENSP00000362579:R968H	R	+	2	0	KIAA1522	33010447	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.416000	0.52707	1.503000	0.48686	0.650000	0.86243	CGC		0.662	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1	0			1:33237860
SIAH3	283514	broad.mit.edu	37	13	46357678	46357678	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr13:46357678G>A	ENST00000400405.2	-	2	756	c.650C>T	c.(649-651)aCg>aTg	p.T217M		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	217					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGACCGGGGCGTGGCCTCCCA	0.612																																						ENST00000400405.2		NA																	0				large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						c.(649-651)aCg>aTg		siah E3 ubiquitin protein ligase family member 3							48.0	54.0	52.0					13																	46357678		1999	4152	6151	SO:0001583	missense	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357678G>A		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.650C>T	13.37:g.46357678G>A	ENSP00000383256:p.Thr217Met	False	False		Somatic	0					p.T217M	NM_198849.2	NP_942146.2	WXS	Illumina HiSeq	Phase_I	Q8IW03	SIAH3_HUMAN			2	756	-			217					B7ZBP0|Q8N8M6	Missense_Mutation	SNP	ENST00000400405.2	37	c.650C>T	CCDS41883.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.748952	0.69533	.	.	ENSG00000215475	ENST00000400405	T	0.27256	1.68	5.07	5.07	0.68467	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.44767	0.1309	L	0.44542	1.39	0.51482	D	0.999923	D	0.89917	1.0	D	0.91635	0.999	T	0.31223	-0.9951	10	0.51188	T	0.08	-19.0347	17.4324	0.87543	0.0:0.0:1.0:0.0	.	217	Q8IW03	SIAH3_HUMAN	M	217	ENSP00000383256:T217M	ENSP00000383256:T217M	T	-	2	0	SIAH3	45255679	1.000000	0.71417	0.987000	0.45799	0.493000	0.33554	9.719000	0.98760	2.369000	0.80426	0.561000	0.74099	ACG		0.612	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	0	NM_198849		13:46357678
TGM5	9333	broad.mit.edu	37	15	43552730	43552730	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:43552730G>A	ENST00000220420.5	-	2	65	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	TGM5_ENST00000349114.4_Missense_Mutation_p.R20W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	20					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTGTGGTGCCGCACATTATTT	0.587																																						ENST00000220420.5		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(58-60)Cgg>Tgg		transglutaminase 5	L-Glutamine(DB00130)						110.0	113.0	112.0					15																	43552730		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552730G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.58C>T	15.37:g.43552730G>A	ENSP00000220420:p.Arg20Trp	False	False		Somatic	0				TGM5_ENST00000349114.4_Missense_Mutation_p.R20W	p.R20W	NM_201631.3	NP_963925.2	WXS	Illumina HiSeq	Phase_I	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	2	65	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	20					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.58C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741549	0.30865	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.85088	-1.94;-1.94	5.64	1.55	0.23275	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.143940	0.06194	N	0.681888	T	0.81616	0.4860	L	0.40543	1.245	0.09310	N	1	D;P	0.56287	0.975;0.903	B;P	0.47827	0.253;0.558	T	0.68070	-0.5506	10	0.72032	D	0.01	-1.8221	3.7194	0.08450	0.0758:0.2681:0.3804:0.2758	.	20;20	O43548-2;O43548	.;TGM5_HUMAN	W	20;20;19	ENSP00000220420:R20W;ENSP00000220419:R20W	ENSP00000220420:R20W	R	-	1	2	TGM5	41340022	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.060000	0.14342	0.040000	0.15660	0.555000	0.69702	CGG		0.587	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	0	NM_004245		15:43552730
PDHA2	5161	broad.mit.edu	37	4	96762066	96762066	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:96762066G>T	ENST00000295266.4	+	1	828	c.765G>T	c.(763-765)atG>atT	p.M255I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	255					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TCGATGGAATGGATGTTCTGT	0.463																																						ENST00000295266.4		NA																	0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(763-765)atG>atT		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						149.0	149.0	149.0					4																	96762066		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762066G>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.765G>T	4.37:g.96762066G>T	ENSP00000295266:p.Met255Ile	True	False		Somatic	0					p.M255I	NM_005390.4	NP_005381.1	WXS	Illumina HiSeq	Phase_I	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	828	+		Hepatocellular(203;0.114)	255					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.765G>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365331	0.61513	.	.	ENSG00000163114	ENST00000295266	D	0.97209	-4.29	4.91	4.91	0.64330	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99282	1.0896	10	0.87932	D	0	-26.8691	16.0034	0.80327	0.0:0.0:1.0:0.0	.	255	P29803	ODPAT_HUMAN	I	255	ENSP00000295266:M255I	ENSP00000295266:M255I	M	+	3	0	PDHA2	96981089	1.000000	0.71417	0.992000	0.48379	0.523000	0.34469	4.138000	0.58017	2.733000	0.93635	0.467000	0.42956	ATG		0.463	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1	0			4:96762066
SIGLEC1	6614	broad.mit.edu	37	20	3673686	3673686	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:3673686C>T	ENST00000344754.4	-	14	3600	c.3601G>A	c.(3601-3603)Gcc>Acc	p.A1201T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1201T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1201	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCCAGCTGGGCGGGCGGGCGG	0.721																																						ENST00000344754.4		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3601-3603)Gcc>Acc		sialic acid binding Ig-like lectin 1, sialoadhesin							11.0	15.0	14.0					20																	3673686		2156	4245	6401	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673686C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3601G>A	20.37:g.3673686C>T	ENSP00000341141:p.Ala1201Thr	True	False		Somatic	0				SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1201T	p.A1201T	NM_023068.3	NP_075556.1	WXS	Illumina HiSeq	Phase_I	Q9BZZ2	SN_HUMAN			14	3600	-			1201			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3601G>A	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.443368|3.443368	0.63067|0.63067	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000344754;ENST00000202578|ENST00000419548	T;T|.	0.75154|.	-0.91;-0.91|.	4.74|4.74	4.74|4.74	0.60224|0.60224	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.39615|.	N|.	0.001309|.	T|T	0.73992|0.73992	0.3658|0.3658	M|M	0.78223|0.78223	2.4|2.4	0.36727|0.36727	D|D	0.88151|0.88151	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75484|.	0.986;0.966|.	T|T	0.79339|0.79339	-0.1844|-0.1844	10|5	0.30078|.	T|.	0.28|.	.|.	13.088|13.088	0.59153|0.59153	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1201;1201|.	Q9BZZ2;Q9BZZ2-3|.	SN_HUMAN;.|.	T|H	1201|14	ENSP00000341141:A1201T;ENSP00000202578:A1201T|.	ENSP00000202578:A1201T|.	A|R	-|-	1|2	0|0	SIGLEC1|SIGLEC1	3621686|3621686	0.045000|0.045000	0.20229|0.20229	0.979000|0.979000	0.43373|0.43373	0.294000|0.294000	0.27393|0.27393	0.222000|0.222000	0.17699|0.17699	2.477000|2.477000	0.83638|0.83638	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.721	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	0	NM_023068		20:3673686
WIPI2	26100	broad.mit.edu	37	7	5232787	5232787	+	Missense_Mutation	SNP	G	G	A	rs200762936		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:5232787G>A	ENST00000288828.4	+	2	345	c.113G>A	c.(112-114)cGt>cAt	p.R38H	WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000404704.3_Missense_Mutation_p.R38H	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	38					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GGTCTTGGCCGTCGCGCTGTT	0.388																																						ENST00000288828.4		NA																	0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16						c.(112-114)cGt>cAt		WD repeat domain, phosphoinositide interacting 2							136.0	136.0	136.0					7																	5232787		2203	4300	6503	SO:0001583	missense	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5232787G>A		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.113G>A	7.37:g.5232787G>A	ENSP00000288828:p.Arg38His	False	False		Somatic	0				WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000404704.3_Missense_Mutation_p.R38H|WIPI2_ENST00000485854.1_Intron	p.R38H	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	WXS	Illumina HiSeq	Phase_I	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	2	345	+		Ovarian(82;0.0175)	38					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	c.113G>A	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	G	7.818	0.717084	0.15372	.	.	ENSG00000157954	ENST00000288828;ENST00000404704	T;T	0.35973	1.28;1.28	3.42	-6.11	0.02131	.	608.758000	0.01314	U	0.010739	T	0.15782	0.0380	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18967	-1.0320	10	0.40728	T	0.16	.	6.7201	0.23325	0.3457:0.1644:0.4899:0.0	.	38;38	Q9Y4P8-6;Q9Y4P8	.;WIPI2_HUMAN	H	38	ENSP00000288828:R38H;ENSP00000385297:R38H	ENSP00000288828:R38H	R	+	2	0	WIPI2	5199313	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.087000	0.01360	-1.161000	0.02800	-1.223000	0.01593	CGT		0.388	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	0	NM_015610		7:5232787
DNAH3	55567	broad.mit.edu	37	16	21080832	21080832	+	Silent	SNP	T	T	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:21080832T>A	ENST00000261383.3	-	23	3284	c.3285A>T	c.(3283-3285)ccA>ccT	p.P1095P	DNAH3_ENST00000415178.1_Silent_p.P1095P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1095	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AACTGAAGATTGGTTCCAGGT	0.433																																						ENST00000261383.3		NA																	0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3283-3285)ccA>ccT		dynein, axonemal, heavy chain 3							195.0	158.0	171.0					16																	21080832		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21080832T>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3285A>T	16.37:g.21080832T>A		False	False		Somatic	0				DNAH3_ENST00000415178.1_Silent_p.P1095P	p.P1095P	NM_017539.1	NP_060009.1	WXS	Illumina HiSeq	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	23	3284	-			1095			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.3285A>T	CCDS10594.1																																																																																				0.433	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	0	NM_017539		16:21080832
CDK13	8621	broad.mit.edu	37	7	40027359	40027359	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:40027359A>C	ENST00000181839.4	+	2	1978	c.1373A>C	c.(1372-1374)aAa>aCa	p.K458T	CDK13_ENST00000340829.5_Missense_Mutation_p.K458T	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	458					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGAATAAAAAagcacgagca	0.488																																						ENST00000181839.4		NA																	0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(1372-1374)aAa>aCa		cyclin-dependent kinase 13							44.0	44.0	44.0					7																	40027359		2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40027359A>C	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1373A>C	7.37:g.40027359A>C	ENSP00000181839:p.Lys458Thr	True	False		Somatic	0				CDK13_ENST00000340829.5_Missense_Mutation_p.K458T	p.K458T	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	WXS	Illumina HiSeq	Phase_I	Q14004	CDK13_HUMAN			2	1978	+			458					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.1373A>C	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.358737	0.61403	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.66638	-0.22;-0.22	5.95	5.95	0.96441	.	.	.	.	.	T	0.79924	0.4530	M	0.61703	1.905	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.79212	-0.1896	8	.	.	.	-13.8654	16.4101	0.83708	1.0:0.0:0.0:0.0	.	458;458	Q14004-2;Q14004	.;CDK13_HUMAN	T	458	ENSP00000181839:K458T;ENSP00000340557:K458T	.	K	+	2	0	CDK13	39993884	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.281000	0.72632	2.280000	0.76307	0.460000	0.39030	AAA		0.488	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	0	NM_003718		7:40027359
VWF	7450	broad.mit.edu	37	12	6138548	6138548	+	Missense_Mutation	SNP	C	C	T	rs181452677		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:6138548C>T	ENST00000261405.5	-	22	3181	c.2927G>A	c.(2926-2928)cGc>cAc	p.R976H		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	976	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTCAGGTGGCGGTCCCAGAC	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19884	0.0		0.0	False		,,,				2504	0.0					ENST00000261405.5		NA																	0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(2926-2928)cGc>cAc		von Willebrand factor	Antihemophilic Factor(DB00025)						147.0	134.0	138.0					12																	6138548		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6138548C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2927G>A	12.37:g.6138548C>T	ENSP00000261405:p.Arg976His	False	False		Somatic	0					p.R976H	NM_000552.3	NP_000543	WXS	Illumina HiSeq	Phase_I	P04275	VWF_HUMAN			22	3181	-			976			VWFD 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.2927G>A	CCDS8539.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.964	0.178991	0.09443	.	.	ENSG00000110799	ENST00000261405	T	0.59364	0.27	4.58	-4.91	0.03085	von Willebrand factor, type D domain (3);	1.340220	0.05412	N	0.542595	T	0.42471	0.1204	L	0.31578	0.945	0.09310	N	0.999998	B	0.14012	0.009	B	0.10450	0.005	T	0.30268	-0.9984	10	0.32370	T	0.25	.	10.1299	0.42672	0.111:0.1943:0.0:0.6948	.	976	P04275	VWF_HUMAN	H	976	ENSP00000261405:R976H	ENSP00000261405:R976H	R	-	2	0	VWF	6008809	0.000000	0.05858	0.141000	0.22245	0.187000	0.23431	-0.956000	0.03865	-1.024000	0.03338	-0.347000	0.07816	CGC		0.557	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	0	NM_000552		12:6138548
FDPS	2224	broad.mit.edu	37	1	155289625	155289625	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:155289625G>A	ENST00000356657.6	+	10	1127	c.965G>A	c.(964-966)gGc>gAc	p.G322D	RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.G256D|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368352.5_5'Flank|RUSC1_ENST00000368354.3_5'Flank|FDPS_ENST00000368356.4_Missense_Mutation_p.G322D|RUSC1-AS1_ENST00000446880.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	322					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGTGTGACCGGCAAAATTGGC	0.567																																						ENST00000356657.6		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10						c.(964-966)gGc>gAc		farnesyl diphosphate synthase	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						113.0	112.0	112.0					1																	155289625		2203	4300	6503	SO:0001583	missense	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155289625G>A	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.965G>A	1.37:g.155289625G>A	ENSP00000349078:p.Gly322Asp	False	False		Somatic	0				FDPS_ENST00000368356.4_Missense_Mutation_p.G322D|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.G256D	p.G322D	NM_001135821.1	NP_001129293.1	WXS	Illumina HiSeq	Phase_I	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		10	1127	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		322					D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	c.965G>A	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143251	0.77888	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.73681	-0.77;-0.77;-0.77	4.28	4.28	0.50868	Terpenoid synthase (2);	0.000000	0.44688	D	0.000439	D	0.88250	0.6386	H	0.94698	3.57	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.90597	0.4541	10	0.87932	D	0	-1.7784	14.6536	0.68817	0.0:0.0:1.0:0.0	.	322	P14324	FPPS_HUMAN	D	256;322;322	ENSP00000391755:G256D;ENSP00000357340:G322D;ENSP00000349078:G322D	ENSP00000349078:G322D	G	+	2	0	FDPS	153556249	1.000000	0.71417	0.997000	0.53966	0.488000	0.33401	9.276000	0.95745	2.673000	0.90976	0.561000	0.74099	GGC		0.567	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	0	NM_002004		1:155289625
GPI	2821	broad.mit.edu	37	19	34884838	34884838	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:34884838C>T	ENST00000356487.5	+	12	1170	c.929C>T	c.(928-930)aCg>aTg	p.T310M	GPI_ENST00000586425.1_Missense_Mutation_p.T310M|GPI_ENST00000415930.3_Missense_Mutation_p.T321M	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	310					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTCCGCACGACGCCCCTGGAG	0.627																																						ENST00000415930.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(961-963)aCg>aTg		glucose-6-phosphate isomerase							128.0	127.0	127.0					19																	34884838		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34884838C>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.929C>T	19.37:g.34884838C>T	ENSP00000348877:p.Thr310Met	False	False		Somatic	0				GPI_ENST00000356487.5_Missense_Mutation_p.T310M|GPI_ENST00000586425.1_Missense_Mutation_p.T310M	p.T321M	NM_001184722.1	NP_001171651.1	WXS	Illumina HiSeq	Phase_I	P06744	G6PI_HUMAN			12	1132	+	Esophageal squamous(110;0.162)		310					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.962C>T	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394367	0.42410	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.93763	-3.28;-3.28	5.65	4.6	0.57074	.	0.386357	0.32868	N	0.005554	D	0.96030	0.8707	M	0.75085	2.285	0.44454	D	0.997381	B;D;B;B	0.56746	0.05;0.977;0.299;0.286	B;D;B;B	0.64144	0.094;0.922;0.094;0.157	D	0.96395	0.9292	10	0.72032	D	0.01	-0.4064	15.9577	0.79898	0.1361:0.8639:0.0:0.0	.	282;321;283;310	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	M	321;310	ENSP00000405573:T321M;ENSP00000348877:T310M	ENSP00000348877:T310M	T	+	2	0	GPI	39576678	0.815000	0.29118	0.084000	0.20598	0.007000	0.05969	7.487000	0.81328	1.371000	0.46172	-0.188000	0.12872	ACG		0.627	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3	0			19:34884838
NR0B1	190	broad.mit.edu	37	X	30327066	30327066	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:30327066G>C	ENST00000378970.4	-	1	649	c.415C>G	c.(415-417)Cac>Gac	p.H139D	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.H139D	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	139	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGCCGCGGGTGGTCTTCACCA	0.692											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378970.4		NA																	0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(415-417)Cac>Gac		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						22.0	21.0	21.0					X																	30327066		2202	4293	6495	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327066G>C	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.415C>G	X.37:g.30327066G>C	ENSP00000368253:p.His139Asp	False	False		Somatic	0	OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816	NR0B1_ENST00000453287.1_Missense_Mutation_p.H139D	p.H139D	NM_000475.4	NP_000466.2	WXS	Illumina HiSeq	Phase_I	P51843	NR0B1_HUMAN			1	649	-			139			4 X 67 AA tandem repeats.		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.415C>G	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507718	0.64410	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.98164	-3.9;-4.76	3.96	3.96	0.45880	.	0.000000	0.42053	D	0.000762	D	0.98397	0.9467	M	0.66939	2.045	0.40318	D	0.978796	D	0.69078	0.997	D	0.69142	0.962	D	0.99107	1.0845	10	0.87932	D	0	-5.5412	12.706	0.57061	0.0:0.0:1.0:0.0	.	139	P51843	NR0B1_HUMAN	D	139	ENSP00000368253:H139D;ENSP00000396403:H139D	ENSP00000368253:H139D	H	-	1	0	NR0B1	30236987	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.474000	0.53129	2.222000	0.72286	0.513000	0.50165	CAC		0.692	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	0	NM_000475		X:30327066
MBD2	8932	broad.mit.edu	37	18	51691000	51691000	+	Silent	SNP	C	C	A	rs375244494		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:51691000C>A	ENST00000256429.3	-	5	1230	c.1002G>T	c.(1000-1002)gcG>gcT	p.A334A		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	334					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		CTGTGATTGGCGCAGAGCTTG	0.473																																						ENST00000256429.3		NA																	0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(1000-1002)gcG>gcT		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						112.0	97.0	102.0					18																	51691000		2203	4300	6503	SO:0001819	synonymous_variant	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51691000C>A	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1002G>T	18.37:g.51691000C>A		False	False		Somatic	0					p.A334A	NM_003927.4	NP_003918.1	WXS	Illumina HiSeq	Phase_I	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	5	1230	-			334					O95242|Q9UIS8	Silent	SNP	ENST00000256429.3	37	c.1002G>T	CCDS11953.1																																																																																				0.473	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	0	NM_003927		18:51691000
ENO1	2023	broad.mit.edu	37	1	8926458	8926458	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:8926458G>A	ENST00000234590.4	-	7	666	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	183	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCCAATGCGCATGGCTTCC	0.512																																					Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(547-549)Cgc>Tgc		enolase 1, (alpha)							141.0	132.0	135.0					1																	8926458		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8926458G>A	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.547C>T	1.37:g.8926458G>A	ENSP00000234590:p.Arg183Cys	False	False		Somatic	0					p.R183C	NM_001428.3	NP_001419.1	WXS	Illumina HiSeq	Phase_I	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	7	666	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	183			Required for repression of c-myc promoter activity.		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.547C>T	CCDS97.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849934	0.71603	.	.	ENSG00000074800	ENST00000234590	T	0.58358	0.34	5.33	5.33	0.75918	Enolase, C-terminal (1);	0.052249	0.85682	N	0.000000	T	0.63792	0.2541	M	0.87097	2.86	0.80722	D	1	B;B;B;B;B	0.31769	0.194;0.238;0.339;0.161;0.194	B;B;B;B;B	0.34991	0.102;0.123;0.193;0.061;0.102	T	0.69720	-0.5069	10	0.87932	D	0	-2.9305	18.013	0.89230	0.0:0.0:1.0:0.0	.	87;150;21;90;183	E2DRY6;A4UCS8;Q9BT62;P06733-2;P06733	.;.;.;.;ENOA_HUMAN	C	183	ENSP00000234590:R183C	ENSP00000234590:R183C	R	-	1	0	ENO1	8849045	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.984000	0.88150	2.492000	0.84095	0.563000	0.77884	CGC		0.512	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	0	NM_001428		1:8926458
TAAR8	83551	broad.mit.edu	37	6	132874742	132874742	+	Missense_Mutation	SNP	C	C	A	rs371469740		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:132874742C>A	ENST00000275200.1	+	1	911	c.911C>A	c.(910-912)gCc>gAc	p.A304D		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	304					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TATAACTCAGCCATGAATCCT	0.343																																						ENST00000275200.1		NA																	0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(910-912)gCc>gAc		trace amine associated receptor 8		C	ASP/ALA	1,4405	2.1+/-5.4	0,1,2202	139.0	144.0	142.0		911	2.8	0.7	6		142	0,8600		0,0,4300	no	missense	TAAR8	NM_053278.1	126	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	304/343	132874742	1,13005	2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874742C>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.911C>A	6.37:g.132874742C>A	ENSP00000275200:p.Ala304Asp	False	False		Somatic	0					p.A304D	NM_053278.1	NP_444508.1	WXS	Illumina HiSeq	Phase_I	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	911	+	Breast(56;0.112)		304					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.911C>A	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	8.027	0.760856	0.15914	2.27E-4	0.0	ENSG00000146385	ENST00000275200	T	0.41065	1.01	4.57	2.76	0.32466	GPCR, rhodopsin-like superfamily (1);	0.097252	0.40908	D	0.000986	T	0.69378	0.3104	H	0.98426	4.23	0.09310	N	1	D	0.56521	0.976	D	0.69654	0.965	T	0.71958	-0.4435	10	0.87932	D	0	-12.6953	15.9979	0.80265	0.0:0.926:0.0:0.074	.	304	Q969N4	TAAR8_HUMAN	D	304	ENSP00000275200:A304D	ENSP00000275200:A304D	A	+	2	0	TAAR8	132916435	0.000000	0.05858	0.667000	0.29798	0.012000	0.07955	0.205000	0.17356	0.638000	0.30545	-1.347000	0.01240	GCC		0.343	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	0	NM_053278		6:132874742
SACS	26278	broad.mit.edu	37	13	23912096	23912096	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr13:23912096T>G	ENST00000382292.3	-	9	6192	c.5919A>C	c.(5917-5919)aaA>aaC	p.K1973N	SACS_ENST00000402364.1_Missense_Mutation_p.K1223N|SACS_ENST00000382298.3_Missense_Mutation_p.K1973N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1973					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGGTCAGTTCTTTCCCTTTTC	0.363																																						ENST00000382298.3		NA																	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5917-5919)aaA>aaC		spastic ataxia of Charlevoix-Saguenay (sacsin)							61.0	64.0	63.0					13																	23912096		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912096T>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5919A>C	13.37:g.23912096T>G	ENSP00000371729:p.Lys1973Asn	True	False		Somatic	0				SACS_ENST00000402364.1_Missense_Mutation_p.K1223N|SACS_ENST00000382292.3_Missense_Mutation_p.K1973N	p.K1973N	NM_014363.4	NP_055178.3	WXS	Illumina HiSeq	Phase_I	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6507	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1973					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.5919A>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	6.072	0.381555	0.11524	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88354	-2.22;-2.37;-2.22	5.93	-1.21	0.09524	.	0.145938	0.64402	D	0.000008	T	0.78817	0.4343	N	0.25647	0.755	0.30667	N	0.753783	B	0.13594	0.008	B	0.11329	0.006	T	0.66048	-0.6020	10	0.33940	T	0.23	.	10.3333	0.43835	0.0:0.4088:0.0:0.5912	.	1973	Q9NZJ4	SACS_HUMAN	N	1973;1223;1973	ENSP00000371729:K1973N;ENSP00000385844:K1223N;ENSP00000371735:K1973N	ENSP00000371729:K1973N	K	-	3	2	SACS	22810096	1.000000	0.71417	0.742000	0.31022	0.119000	0.20118	0.854000	0.27791	-0.412000	0.07519	-0.353000	0.07706	AAA		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	0	NM_014363		13:23912096
ABAT	18	broad.mit.edu	37	16	8858595	8858595	+	Splice_Site	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:8858595G>T	ENST00000396600.2	+	8	1386	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	ABAT_ENST00000569156.1_Splice_Site_p.V150L|ABAT_ENST00000425191.2_Splice_Site_p.V150L|ABAT_ENST00000567812.1_Splice_Site_p.V165L|ABAT_ENST00000268251.8_Splice_Site_p.V150L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	150					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CTCCCCACAGGTGGCTCCCAA	0.597																																						ENST00000396600.2		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(448-450)Gtg>Ttg		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						116.0	93.0	101.0					16																	8858595		2197	4300	6497	SO:0001630	splice_region_variant	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8858595G>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.448-1G>T	16.37:g.8858595G>T		False	False		Somatic	0				ABAT_ENST00000268251.8_Splice_Site_p.V150L|ABAT_ENST00000567812.1_Splice_Site_p.V165L|ABAT_ENST00000425191.2_Splice_Site_p.V150L|ABAT_ENST00000569156.1_Splice_Site_p.V150L	p.V150L	NM_000663.4	NP_000654.2	WXS	Illumina HiSeq	Phase_I	P80404	GABT_HUMAN			8	1386	+			150					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Splice_Site	SNP	ENST00000396600.2	37	c.448G>T	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754306	0.69648	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.74315	-0.83;-0.83;-0.83	5.63	5.63	0.86233	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.057206	0.64402	D	0.000001	T	0.76485	0.3994	L	0.60455	1.87	0.80722	D	1	B	0.17268	0.021	B	0.35182	0.197	T	0.69964	-0.5002	9	.	.	.	-19.9755	18.7245	0.91710	0.0:0.0:1.0:0.0	.	150	P80404	GABT_HUMAN	L	150	ENSP00000268251:V150L;ENSP00000379845:V150L;ENSP00000411916:V150L	.	V	+	1	0	ABAT	8766096	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.063000	0.71162	2.661000	0.90470	0.650000	0.86243	GTG		0.597	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	0	NM_020686	Missense_Mutation	16:8858595
HECTD4	283450	broad.mit.edu	37	12	112642327	112642327	+	Silent	SNP	G	G	A	rs564756313	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:112642327G>A	ENST00000430131.2	-	52	8111	c.6966C>T	c.(6964-6966)gaC>gaT	p.D2322D	HECTD4_ENST00000377560.5_Silent_p.D2572D|HECTD4_ENST00000550722.1_Silent_p.D2598D			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2322					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)										TGTTTGCTTCGTCTTTAATGT	0.398													G|||	2	0.000399361	0.0	0.0	5008	,	,		21060	0.0		0.0	False		,,,				2504	0.002					ENST00000550722.1		NA																	0					NA						c.(7792-7794)gaC>gaT		HECT domain containing E3 ubiquitin protein ligase 4							95.0	95.0	95.0					12																	112642327		1893	4100	5993	SO:0001819	synonymous_variant	283450							g.chr12:112642327G>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.6966C>T	12.37:g.112642327G>A		False	False		Somatic	0				HECTD4_ENST00000430131.2_Silent_p.D2322D|HECTD4_ENST00000377560.5_Silent_p.D2572D	p.D2598D	NM_001109662.3	NP_001103132.3	WXS	Illumina HiSeq	Phase_I					53	8189	-			NA					L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.7794C>T		.	.	.	.	.	.	.	.	.	.	G	8.742	0.919312	0.17982	.	.	ENSG00000173064	ENST00000550968	.	.	.	6.17	-12.3	0.00002	.	.	.	.	.	T	0.69824	0.3154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81278	-0.1005	4	.	.	.	.	22.406	0.99971	0.324:0.0:0.676:0.0	.	.	.	.	M	489	.	.	T	-	2	0	C12orf51	111126710	0.000000	0.05858	0.095000	0.20976	0.996000	0.88848	-1.325000	0.02687	-2.850000	0.00331	-0.290000	0.09829	ACG		0.398	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		0	NM_173813		12:112642327
FAM71B	153745	broad.mit.edu	37	5	156590194	156590194	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:156590194G>A	ENST00000302938.4	-	2	1177	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	361						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCGGCCCCCGCCATCGAGGT	0.567																																						ENST00000302938.4		NA																	0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1081-1083)gCg>gTg		family with sequence similarity 71, member B							33.0	36.0	35.0					5																	156590194		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590194G>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1082C>T	5.37:g.156590194G>A	ENSP00000305596:p.Ala361Val	True	False		Somatic	0					p.A361V	NM_130899.2	NP_570969.2	WXS	Illumina HiSeq	Phase_I	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1177	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	361					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1082C>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	8.201	0.798141	0.16397	.	.	ENSG00000170613	ENST00000302938	T	0.04156	3.69	3.83	-0.0601	0.13790	.	2.284610	0.01796	N	0.032639	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	P	0.35628	0.513	B	0.14023	0.01	T	0.32929	-0.9888	10	0.02654	T	1	0.1287	1.1705	0.01824	0.2063:0.1729:0.4431:0.1777	.	361	Q8TC56	FA71B_HUMAN	V	361	ENSP00000305596:A361V	ENSP00000305596:A361V	A	-	2	0	FAM71B	156522772	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.879000	0.04188	-0.036000	0.13669	-0.224000	0.12420	GCG		0.567	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	0	NM_130899		5:156590194
MORF4L1	10933	broad.mit.edu	37	15	79186408	79186408	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr15:79186408C>T	ENST00000331268.5	+	11	959	c.755C>T	c.(754-756)gCg>gTg	p.A252V	MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	252	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AGGGAGTATGCGGTTAATGAA	0.333																																						ENST00000331268.5		NA																	0				breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						c.(754-756)gCg>gTg		mortality factor 4 like 1							95.0	102.0	99.0					15																	79186408		2196	4293	6489	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79186408C>T	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.755C>T	15.37:g.79186408C>T	ENSP00000331310:p.Ala252Val	False	False		Somatic	0				MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V	p.A252V	NM_206839.2	NP_996670.1	WXS	Illumina HiSeq	Phase_I	Q9UBU8	MO4L1_HUMAN			11	959	+			252			Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.755C>T	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761130	0.69763	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.08458	3.09;3.09;3.09	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	L	0.48174	1.505	0.80722	D	1	D;D	0.67145	0.996;0.978	P;B	0.48840	0.592;0.366	T	0.20107	-1.0285	10	0.09590	T	0.72	-22.9863	15.8341	0.78787	0.0:1.0:0.0:0.0	.	213;252	Q9UBU8-2;Q9UBU8	.;MO4L1_HUMAN	V	238;213;252	ENSP00000368850:A238V;ENSP00000408880:A213V;ENSP00000331310:A252V	ENSP00000331310:A252V	A	+	2	0	MORF4L1	76973463	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.604000	0.82830	2.123000	0.65237	0.650000	0.86243	GCG		0.333	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	0	NM_006791		15:79186408
BTBD11	121551	broad.mit.edu	37	12	108051434	108051434	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:108051434G>T	ENST00000280758.5	+	17	3782	c.3254G>T	c.(3253-3255)aGg>aTg	p.R1085M	BTBD11_ENST00000494235.2_Missense_Mutation_p.R164M|BTBD11_ENST00000420571.2_Missense_Mutation_p.R966M|BTBD11_ENST00000357167.4_Missense_Mutation_p.R622M	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1085						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GACTTACAGAGGACGTTGGCC	0.493																																						ENST00000280758.5		NA																	0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(3253-3255)aGg>aTg		BTB (POZ) domain containing 11							128.0	114.0	119.0					12																	108051434		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108051434G>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3254G>T	12.37:g.108051434G>T	ENSP00000280758:p.Arg1085Met	False	False		Somatic	0				BTBD11_ENST00000494235.2_Missense_Mutation_p.R164M|BTBD11_ENST00000420571.2_Missense_Mutation_p.R966M|BTBD11_ENST00000357167.4_Missense_Mutation_p.R622M	p.R1085M	NM_001018072.1	NP_001018082.1	WXS	Illumina HiSeq	Phase_I	A6QL63	BTBDB_HUMAN			17	3782	+			1085					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.3254G>T	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402325	0.83230	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.39997	1.26;1.39;1.05;1.17	5.84	5.84	0.93424	.	0.085133	0.85682	D	0.000000	T	0.41026	0.1141	N	0.22421	0.69	0.58432	D	0.999994	D;D	0.56521	0.976;0.976	P;P	0.47744	0.459;0.556	T	0.22103	-1.0226	10	0.48119	T	0.1	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	622;1085	E9PHS4;A6QL63	.;BTBDB_HUMAN	M	1085;966;622;164	ENSP00000280758:R1085M;ENSP00000413889:R966M;ENSP00000349690:R622M;ENSP00000448322:R164M	ENSP00000280758:R1085M	R	+	2	0	BTBD11	106575564	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.694000	0.68272	2.760000	0.94817	0.655000	0.94253	AGG		0.493	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	0	NM_152322		12:108051434
KCND1	3750	broad.mit.edu	37	X	48819916	48819916	+	Missense_Mutation	SNP	C	C	T	rs145016539		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:48819916C>T	ENST00000218176.3	-	6	3167	c.1870G>A	c.(1870-1872)Ggc>Agc	p.G624S	KCND1_ENST00000376477.1_Missense_Mutation_p.G247S	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	624					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	AGGGTGCTGCCGGCCCTGCCA	0.632																																						ENST00000218176.3		NA																	0				endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						c.(1870-1872)Ggc>Agc		potassium voltage-gated channel, Shal-related subfamily, member 1			SER/GLY	3,3832		0,2,1,1630,570	31.0	27.0	28.0		1870	-1.0	0.0	X	dbSNP_134	28	0,6728		0,0,0,2428,1872	no	missense	KCND1	NM_004979.4	56	0,2,1,4058,2442	TT,TC,T,CC,C		0.0,0.0782,0.0284	benign	624/648	48819916	3,10560	2203	4300	6503	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48819916C>T	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1870G>A	X.37:g.48819916C>T	ENSP00000218176:p.Gly624Ser	False	False		Somatic	0				KCND1_ENST00000376477.1_Missense_Mutation_p.G247S	p.G624S	NM_004979.4	NP_004970.3	WXS	Illumina HiSeq	Phase_I	Q9NSA2	KCND1_HUMAN			6	3167	-			624					A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.1870G>A	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	c	1.827	-0.470870	0.04445	7.82E-4	0.0	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.95918	-3.34;-3.85	5.32	-0.965	0.10323	.	1.211090	0.05587	N	0.573947	D	0.88919	0.6568	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.77501	-0.2564	10	0.02654	T	1	.	3.4758	0.07583	0.197:0.4041:0.0:0.3989	.	624	Q9NSA2	KCND1_HUMAN	S	247;624	ENSP00000365660:G247S;ENSP00000218176:G624S	ENSP00000218176:G624S	G	-	1	0	KCND1	48704860	0.959000	0.32827	0.014000	0.15608	0.107000	0.19398	1.496000	0.35638	0.195000	0.20347	-0.743000	0.03520	GGC		0.632	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	0	NM_004979		X:48819916
LPCAT3	10162	broad.mit.edu	37	12	7086376	7086376	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:7086376G>C	ENST00000261407.4	-	12	1481	c.1396C>G	c.(1396-1398)Cta>Gta	p.L466V	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	466					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AATATGAATAGTAGGCTCAGG	0.418																																						ENST00000261407.4		NA																	0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(1396-1398)Cta>Gta		lysophosphatidylcholine acyltransferase 3							88.0	90.0	89.0					12																	7086376		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7086376G>C	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1396C>G	12.37:g.7086376G>C	ENSP00000261407:p.Leu466Val	False	False		Somatic	0				LPCAT3_ENST00000535021.1_5'UTR	p.L466V	NM_005768.5	NP_005759.4	WXS	Illumina HiSeq	Phase_I	Q6P1A2	MBOA5_HUMAN			12	1481	-			466					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.1396C>G	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379121	0.24944	.	.	ENSG00000111684	ENST00000261407	T	0.73897	-0.79	4.77	2.95	0.34219	.	0.147474	0.46758	D	0.000278	T	0.63698	0.2533	L	0.39898	1.24	0.48696	D	0.999699	P	0.49090	0.919	B	0.42087	0.375	T	0.58994	-0.7537	10	0.32370	T	0.25	-13.8297	10.1817	0.42972	0.2237:0.0:0.7763:0.0	.	466	Q6P1A2	MBOA5_HUMAN	V	466	ENSP00000261407:L466V	ENSP00000261407:L466V	L	-	1	2	LPCAT3	6956637	0.980000	0.34600	0.277000	0.24703	0.895000	0.52256	1.816000	0.38992	0.627000	0.30340	-0.258000	0.10820	CTA		0.418	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	0	NM_005768		12:7086376
OR51I1	390063	broad.mit.edu	37	11	5462461	5462461	+	Missense_Mutation	SNP	G	G	A	rs115148889		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:5462461G>A	ENST00000380211.1	-	1	283	c.284C>T	c.(283-285)gCg>gTg	p.A95V	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	95					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATTAAACGCAACATGGTT	0.458																																						ENST00000380211.1		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(283-285)gCg>gTg		olfactory receptor, family 51, subfamily I, member 1							138.0	123.0	128.0					11																	5462461		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462461G>A	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.284C>T	11.37:g.5462461G>A	ENSP00000369559:p.Ala95Val	False	False		Somatic	0				HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	p.A95V	NM_001005288.2	NP_001005288.1	WXS	Illumina HiSeq	Phase_I	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	283	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	95					B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.284C>T	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529926	0.45073	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.37235	1.21	5.78	-2.31	0.06765	GPCR, rhodopsin-like superfamily (1);	0.518492	0.17730	N	0.163931	T	0.19366	0.0465	L	0.39898	1.24	0.09310	N	1	B	0.27700	0.186	B	0.19148	0.024	T	0.12708	-1.0537	10	0.62326	D	0.03	.	0.4262	0.00464	0.2041:0.2902:0.1998:0.3058	.	95	Q9H343	O51I1_HUMAN	V	80;92;95	ENSP00000369559:A95V	ENSP00000348350:A80V	A	-	2	0	OR51I1	5419037	0.000000	0.05858	0.025000	0.17156	0.074000	0.17049	-2.368000	0.01077	-0.628000	0.05582	-0.231000	0.12243	GCG		0.458	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	0	NM_001005288		11:5462461
DNASE1	1773	broad.mit.edu	37	16	3706107	3706107	+	Missense_Mutation	SNP	G	G	A	rs140530129	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:3706107G>A	ENST00000246949.5	+	4	3450	c.241G>A	c.(241-243)Gca>Aca	p.A81T	DNASE1_ENST00000407479.1_Missense_Mutation_p.A81T|DNASE1_ENST00000414110.2_Start_Codon_SNP_p.M1I	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	81					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		ATCCAGGGATGCACCAGACAC	0.597													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17749	0.0		0.0	False		,,,				2504	0.0					ENST00000246949.5		NA																	0				lung(1)	1						c.(241-243)Gca>Aca		deoxyribonuclease I	Dornase Alfa(DB00003)						85.0	78.0	81.0					16																	3706107		2197	4300	6497	SO:0001583	missense	1773				apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity	g.chr16:3706107G>A		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.241G>A	16.37:g.3706107G>A	ENSP00000246949:p.Ala81Thr	False	False		Somatic	0				DNASE1_ENST00000414110.2_Start_Codon_SNP_p.M1I|DNASE1_ENST00000407479.1_Missense_Mutation_p.A81T	p.A81T	NM_005223.3	NP_005214.2	WXS	Illumina HiSeq	Phase_I	P24855	DNAS1_HUMAN		Kidney(780;0.0556)	4	3450	+		Ovarian(90;0.0261)	81					B4DV35|Q14UU9|Q14UV0	Missense_Mutation	SNP	ENST00000246949.5	37	c.241G>A	CCDS10507.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	12.44|12.44	1.938101|1.938101	0.34189|0.34189	.|.	.|.	ENSG00000213918|ENSG00000213918	ENST00000407479;ENST00000246949|ENST00000414110	T;T|T	0.51071|0.40476	0.72;0.72|1.03	5.06|5.06	-0.503|-0.503	0.12000|0.12000	Endonuclease/exonuclease/phosphatase (2);|.	1.806170|.	0.02552|.	N|.	0.095796|.	T|T	0.23806|0.23806	0.0576|0.0576	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B|.	0.14438|.	0.01|.	B|.	0.12837|.	0.008|.	T|T	0.29027|0.29027	-1.0025|-1.0025	10|7	0.42905|0.87932	T|D	0.14|0	-7.8118|-7.8118	4.4516|4.4516	0.11623|0.11623	0.3473:0.0:0.4251:0.2276|0.3473:0.0:0.4251:0.2276	.|.	81|.	P24855|.	DNAS1_HUMAN|.	T|I	81|1	ENSP00000385905:A81T;ENSP00000246949:A81T|ENSP00000416699:M1I	ENSP00000246949:A81T|ENSP00000416699:M1I	A|M	+|+	1|3	0|0	DNASE1|DNASE1	3646108|3646108	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.028000|0.028000	0.11728|0.11728	-0.075000|-0.075000	0.11431|0.11431	0.527000|0.527000	0.28560|0.28560	-0.291000|-0.291000	0.09656|0.09656	GCA|ATG		0.597	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2	0			16:3706107
FAM47A	158724	broad.mit.edu	37	X	34148936	34148936	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:34148936C>T	ENST00000346193.3	-	1	1511	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	487								p.R487Q(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTGGACCTCCGACGTGTCTT	0.642																																						ENST00000346193.3		NA																	1	Substitution - Missense(1)	p.R487Q(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1459-1461)cGg>cAg		family with sequence similarity 47, member A							47.0	54.0	51.0					X																	34148936		2192	4286	6478	SO:0001583	missense	158724							g.chrX:34148936C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1460G>A	X.37:g.34148936C>T	ENSP00000345029:p.Arg487Gln	False	False		Somatic	0					p.R487Q	NM_203408.3	NP_981953.2	WXS	Illumina HiSeq	Phase_I	Q5JRC9	FA47A_HUMAN			1	1511	-			487					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1460G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	9.489	1.100058	0.20552	.	.	ENSG00000185448	ENST00000346193	T	0.16196	2.36	0.446	0.446	0.16602	.	.	.	.	.	T	0.10380	0.0254	N	0.24115	0.695	0.09310	N	1	D	0.62365	0.991	P	0.44811	0.461	T	0.23762	-1.0179	8	0.13470	T	0.59	.	.	.	.	.	487	Q5JRC9	FA47A_HUMAN	Q	487	ENSP00000345029:R487Q	ENSP00000345029:R487Q	R	-	2	0	FAM47A	34058857	0.022000	0.18835	0.006000	0.13384	0.016000	0.09150	0.010000	0.13242	0.435000	0.26365	0.183000	0.17082	CGG		0.642	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	0	NM_203408		X:34148936
HDX	139324	broad.mit.edu	37	X	83724365	83724365	+	Silent	SNP	T	T	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:83724365T>A	ENST00000297977.5	-	3	477	c.366A>T	c.(364-366)acA>acT	p.T122T	HDX_ENST00000506585.2_Silent_p.T64T|HDX_ENST00000373177.2_Silent_p.T122T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	122						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TATGTTTGTTTGTTCCTTGCC	0.403																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5		NA																	0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(364-366)acA>acT		highly divergent homeobox							272.0	225.0	241.0					X																	83724365		2203	4300	6503	SO:0001819	synonymous_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724365T>A	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.366A>T	X.37:g.83724365T>A		True	False		Somatic	0				HDX_ENST00000373177.2_Silent_p.T122T|HDX_ENST00000506585.2_Silent_p.T64T	p.T122T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	WXS	Illumina HiSeq	Phase_I	Q7Z353	HDX_HUMAN			3	477	-			122					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	c.366A>T	CCDS35342.1																																																																																				0.403	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	0	NM_144657		X:83724365
BCL11A	53335	broad.mit.edu	37	2	60688782	60688782	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:60688782C>T	ENST00000335712.6	-	4	1492	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.R388H|BCL11A_ENST00000537768.1_Missense_Mutation_p.R91H|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.R388H|BCL11A_ENST00000356842.4_Missense_Mutation_p.R422H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	422					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTTCATGTGGCGCTTCAGCTT	0.647			T	IGH@	B-CLL																																	ENST00000335712.6		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1264-1266)cGc>cAc		B-cell CLL/lymphoma 11A (zinc finger protein)							102.0	93.0	96.0					2																	60688782		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688782C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1265G>A	2.37:g.60688782C>T	ENSP00000338774:p.Arg422His	False	False		Somatic	0				BCL11A_ENST00000537768.1_Missense_Mutation_p.R91H|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.R422H|BCL11A_ENST00000538214.1_Missense_Mutation_p.R388H|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.R388H	p.R422H	NM_022893.3	NP_075044.2	WXS	Illumina HiSeq	Phase_I	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1492	-			422					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1265G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291279	0.40494	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.16743	3.17;3.17;2.32;5.19;5.19	5.27	4.37	0.52481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.062434	0.64402	D	0.000010	T	0.41396	0.1157	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.98;0.997;0.998;0.997	T	0.34153	-0.9840	10	0.56958	D	0.05	-2.2443	15.0016	0.71476	0.1436:0.8564:0.0:0.0	.	388;91;388;422;422	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	H	422;458;388;91;422;388	ENSP00000349300:R422H;ENSP00000438303:R388H;ENSP00000443712:R91H;ENSP00000338774:R422H;ENSP00000351307:R388H	ENSP00000338774:R422H	R	-	2	0	BCL11A	60542286	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	1.173000	0.42796	0.655000	0.94253	CGC		0.647	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	0	NM_022893		2:60688782
TNR	7143	broad.mit.edu	37	1	175365862	175365862	+	Missense_Mutation	SNP	G	G	A	rs138654492		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:175365862G>A	ENST00000367674.2	-	5	1766	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	TNR_ENST00000263525.2_Missense_Mutation_p.T353M			Q92752	TENR_HUMAN	tenascin R	353	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACATATTCCGTCACTGCCAT	0.617																																						ENST00000367674.2		NA																	0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1057-1059)aCg>aTg		tenascin R		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	83.0	83.0	83.0		1058	6.0	1.0	1	dbSNP_134	83	0,8600		0,0,4300	no	missense	TNR	NM_003285.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	353/1359	175365862	1,13005	2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365862G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1058C>T	1.37:g.175365862G>A	ENSP00000356646:p.Thr353Met	False	False		Somatic	0				TNR_ENST00000263525.2_Missense_Mutation_p.T353M	p.T353M			WXS	Illumina HiSeq	Phase_I	Q92752	TENR_HUMAN			5	1766	-	Renal(580;0.146)		NA			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1058C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905250	0.92035	2.27E-4	0.0	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.60171	0.21;0.21	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055941	0.64402	D	0.000001	T	0.77805	0.4185	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.76277	-0.3018	10	0.46703	T	0.11	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	353	Q92752	TENR_HUMAN	M	353	ENSP00000356646:T353M;ENSP00000263525:T353M	ENSP00000263525:T353M	T	-	2	0	TNR	173632485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.328000	0.96403	2.826000	0.97356	0.655000	0.94253	ACG		0.617	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	0	NM_003285		1:175365862
AP2B1	163	broad.mit.edu	37	17	33954713	33954713	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:33954713C>T	ENST00000262325.7	+	9	1676	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.R375W|AP2B1_ENST00000592545.1_Missense_Mutation_p.R337W|AP2B1_ENST00000538556.1_Missense_Mutation_p.R318W|AP2B1_ENST00000589344.1_Missense_Mutation_p.R375W|AP2B1_ENST00000537622.2_Missense_Mutation_p.R375W	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	375					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AAAAGCTGTGCGGGCCATTGG	0.438																																						ENST00000262325.7		NA																	0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1123-1125)Cgg>Tgg		adaptor-related protein complex 2, beta 1 subunit							119.0	110.0	113.0					17																	33954713		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33954713C>T	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1123C>T	17.37:g.33954713C>T	ENSP00000262325:p.Arg375Trp	True	False		Somatic	0				AP2B1_ENST00000589344.1_Missense_Mutation_p.R375W|AP2B1_ENST00000312678.8_Missense_Mutation_p.R375W|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.R337W|AP2B1_ENST00000538556.1_Missense_Mutation_p.R318W|AP2B1_ENST00000537622.2_Missense_Mutation_p.R375W	p.R375W	NM_001282.2	NP_001273.1	WXS	Illumina HiSeq	Phase_I	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	9	1676	+		Ovarian(249;0.17)	375					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1123C>T	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483673	0.63962	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.74	2.04	0.26737	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	H	0.97158	3.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.996	T	0.77787	-0.2457	10	0.87932	D	0	-0.402	14.3775	0.66889	0.4861:0.5139:0.0:0.0	.	112;337;375;375	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	W	375;375;318;375;112	ENSP00000262325:R375W;ENSP00000314414:R375W;ENSP00000440563:R318W;ENSP00000437413:R375W	ENSP00000262325:R375W	R	+	1	2	AP2B1	30978826	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	1.241000	0.32743	0.128000	0.18479	-1.036000	0.02392	CGG		0.438	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1	0			17:33954713
MAGI2	9863	broad.mit.edu	37	7	77885649	77885649	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:77885649C>T	ENST00000354212.4	-	10	1911	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	MAGI2_ENST00000419488.1_Missense_Mutation_p.R553Q|MAGI2_ENST00000535697.1_Missense_Mutation_p.R390Q|MAGI2_ENST00000536571.1_Missense_Mutation_p.R385Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.R553Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	553					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGTGAGGTCCGAGAAATGTA	0.512																																						ENST00000354212.4		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1657-1659)cGg>cAg		membrane associated guanylate kinase, WW and PDZ domain containing 2							124.0	100.0	109.0					7																	77885649		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885649C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1658G>A	7.37:g.77885649C>T	ENSP00000346151:p.Arg553Gln	False	False		Somatic	0				MAGI2_ENST00000522391.1_Missense_Mutation_p.R553Q|MAGI2_ENST00000535697.1_Missense_Mutation_p.R390Q|MAGI2_ENST00000536571.1_Missense_Mutation_p.R385Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.R553Q	p.R553Q	NM_012301.3	NP_036433.2	WXS	Illumina HiSeq	Phase_I	Q86UL8	MAGI2_HUMAN			10	1911	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	553					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1658G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488783	0.44249	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.10382	2.97;2.98;2.88;3.82;3.83	5.94	5.06	0.68205	.	0.000000	0.33253	U	0.005115	T	0.12220	0.0297	N	0.16790	0.44	0.49130	D	0.999757	D;B;D;D;B;D	0.76494	0.988;0.145;0.998;0.998;0.376;0.999	P;B;P;P;B;P	0.55011	0.507;0.018;0.652;0.652;0.068;0.766	T	0.23940	-1.0174	10	0.11485	T	0.65	.	14.5211	0.67851	0.0:0.9297:0.0:0.0703	.	390;385;553;553;553;553	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	Q	553;553;553;553;385;390	ENSP00000405766:R553Q;ENSP00000346151:R553Q;ENSP00000428389:R553Q;ENSP00000441584:R385Q;ENSP00000441603:R390Q	ENSP00000346151:R553Q	R	-	2	0	MAGI2	77723585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.243000	0.51392	1.519000	0.48950	0.561000	0.74099	CGG		0.512	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	0	NM_012301		7:77885649
PTPRD	5789	broad.mit.edu	37	9	8633320	8633320	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:8633320G>A	ENST00000381196.4	-	11	892	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	PTPRD_ENST00000360074.4_Missense_Mutation_p.R117W|PTPRD_ENST00000463477.1_Missense_Mutation_p.R117W|PTPRD_ENST00000358503.5_Missense_Mutation_p.R117W|PTPRD_ENST00000355233.5_Missense_Mutation_p.R117W|PTPRD_ENST00000486161.1_Missense_Mutation_p.R117W|PTPRD_ENST00000397617.3_Missense_Mutation_p.R117W|PTPRD_ENST00000540109.1_Missense_Mutation_p.R117W|PTPRD_ENST00000356435.5_Missense_Mutation_p.R117W|PTPRD_ENST00000397606.3_Missense_Mutation_p.R117W|PTPRD_ENST00000397611.3_Missense_Mutation_p.R117W|PTPRD_ENST00000537002.1_Missense_Mutation_p.R117W	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	117					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTTACCCCGCAAAACTGTG	0.418										TSP Lung(15;0.13)																												ENST00000381196.4		NA																	0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(349-351)Cgg>Tgg		protein tyrosine phosphatase, receptor type, D							195.0	157.0	170.0					9																	8633320		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8633320G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.349C>T	9.37:g.8633320G>A	ENSP00000370593:p.Arg117Trp	True	False	TSP Lung(15;0.13)	Somatic	0				PTPRD_ENST00000358503.5_Missense_Mutation_p.R117W|PTPRD_ENST00000355233.5_Missense_Mutation_p.R117W|PTPRD_ENST00000486161.1_Missense_Mutation_p.R117W|PTPRD_ENST00000397617.3_Missense_Mutation_p.R117W|PTPRD_ENST00000540109.1_Missense_Mutation_p.R117W|PTPRD_ENST00000356435.5_Missense_Mutation_p.R117W|PTPRD_ENST00000397606.3_Missense_Mutation_p.R117W|PTPRD_ENST00000397611.3_Missense_Mutation_p.R117W|PTPRD_ENST00000463477.1_Missense_Mutation_p.R117W|PTPRD_ENST00000537002.1_Missense_Mutation_p.R117W|PTPRD_ENST00000360074.4_Missense_Mutation_p.R117W	p.R117W	NM_002839.3	NP_002830.1	WXS	Illumina HiSeq	Phase_I	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	11	892	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	117					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.349C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454414	0.84209	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.71341	0.52;0.52;0.56;0.61;0.7;0.82;0.58;0.48;0.52;0.7;0.81;-0.56	6.05	6.05	0.98169	.	0.126553	0.50627	D	0.000105	D	0.82995	0.5158	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;0.999;1.0;0.999;1.0;0.999;0.997	D;P;P;P;P;D;D;P;P;P	0.71414	0.973;0.878;0.827;0.827;0.827;0.911;0.943;0.897;0.849;0.685	T	0.82516	-0.0418	9	.	.	.	.	15.3312	0.74212	0.0:0.0:0.8603:0.1397	.	117;117;117;117;117;117;117;117;117;117	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	W	117	ENSP00000370593:R117W;ENSP00000348812:R117W;ENSP00000353187:R117W;ENSP00000351293:R117W;ENSP00000347373:R117W;ENSP00000380741:R117W;ENSP00000380735:R117W;ENSP00000440515:R117W;ENSP00000438164:R117W;ENSP00000417093:R117W;ENSP00000380731:R117W;ENSP00000417661:R117W	.	R	-	1	2	PTPRD	8623320	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.534000	0.60622	2.871000	0.98454	0.637000	0.83480	CGG		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3	0			9:8633320
DOCK3	1795	broad.mit.edu	37	3	51378785	51378785	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:51378785G>A	ENST00000266037.9	+	38	3907	c.3884G>A	c.(3883-3885)cGg>cAg	p.R1295Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1295	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGACTGTGCCGGAAGATCATT	0.532																																						ENST00000266037.9		NA																	0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(3883-3885)cGg>cAg		dedicator of cytokinesis 3							60.0	64.0	63.0					3																	51378785		2086	4222	6308	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51378785G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3884G>A	3.37:g.51378785G>A	ENSP00000266037:p.Arg1295Gln	False	False		Somatic	0					p.R1295Q	NM_004947.4	NP_004938.1	WXS	Illumina HiSeq	Phase_I	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	38	3907	+			1295			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.3884G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977405	0.53720	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.04603	3.59	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	N	0.20766	0.605	0.58432	D	0.999999	D	0.67145	0.996	P	0.55087	0.768	T	0.47032	-0.9148	10	0.28530	T	0.3	.	19.4028	0.94637	0.0:0.0:1.0:0.0	.	1295	Q8IZD9	DOCK3_HUMAN	Q	1295;91	ENSP00000266037:R1295Q	ENSP00000266037:R1295Q	R	+	2	0	DOCK3	51353825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.574000	0.86865	0.655000	0.94253	CGG		0.532	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	0	NM_004947		3:51378785
COL14A1	7373	broad.mit.edu	37	8	121160087	121160087	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:121160087G>T	ENST00000297848.3	+	2	276	c.6G>T	c.(4-6)aaG>aaT	p.K2N	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.K2N|COL14A1_ENST00000309791.4_Missense_Mutation_p.K2N|COL14A1_ENST00000247781.3_Missense_Mutation_p.K2N	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATAAAATGAAGATTTTCCAGC	0.383																																						ENST00000297848.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(4-6)aaG>aaT		collagen, type XIV, alpha 1							95.0	89.0	91.0					8																	121160087		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121160087G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.6G>T	8.37:g.121160087G>T	ENSP00000297848:p.Lys2Asn	False	False		Somatic	0				COL14A1_ENST00000537875.1_Missense_Mutation_p.K2N|COL14A1_ENST00000309791.4_Missense_Mutation_p.K2N|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.K2N	p.K2N	NM_021110.1	NP_066933.1	WXS	Illumina HiSeq	Phase_I	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		2	276	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		2						Missense_Mutation	SNP	ENST00000297848.3	37	c.6G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697656	0.30142	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;D;D;D	0.87966	0.45;-2.14;-2.16;-2.32	5.92	5.92	0.95590	.	0.536026	0.19314	N	0.117330	T	0.78214	0.4248	N	0.14661	0.345	0.26614	N	0.972785	B	0.19583	0.037	B	0.17098	0.017	T	0.64296	-0.6441	10	0.27082	T	0.32	.	15.8249	0.78690	0.0:0.0:1.0:0.0	.	2	Q05707	COEA1_HUMAN	N	2	ENSP00000443974:K2N;ENSP00000311809:K2N;ENSP00000297848:K2N;ENSP00000247781:K2N	ENSP00000247781:K2N	K	+	3	2	COL14A1	121229268	1.000000	0.71417	0.513000	0.27749	0.105000	0.19272	2.807000	0.47955	2.818000	0.97014	0.655000	0.94253	AAG		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	0	NM_021110		8:121160087
IGSF21	84966	broad.mit.edu	37	1	18692048	18692048	+	Missense_Mutation	SNP	G	G	A	rs149943630		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:18692048G>A	ENST00000251296.1	+	6	1255	c.872G>A	c.(871-873)cGc>cAc	p.R291H		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	291						extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCCACAGCCGCACCCCGAGC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		19244	0.001		0.0	False		,,,				2504	0.0					ENST00000251296.1		NA																	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(871-873)cGc>cAc		immunoglobin superfamily, member 21		G	HIS/ARG	0,4406		0,0,2203	108.0	98.0	102.0		872	-0.3	1.0	1	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	yes	missense	IGSF21	NM_032880.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	291/468	18692048	2,13004	2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18692048G>A	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.872G>A	1.37:g.18692048G>A	ENSP00000251296:p.Arg291His	False	False		Somatic	0					p.R291H	NM_032880.4	NP_116269.3	WXS	Illumina HiSeq	Phase_I	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1255	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	291					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.872G>A	CCDS184.1	.	.	.	.	.	.	.	.	.	.	G	6.571	0.473759	0.12521	0.0	2.33E-4	ENSG00000117154	ENST00000251296	T	0.52526	0.66	4.28	-0.3	0.12804	.	0.378221	0.31233	N	0.008016	T	0.15998	0.0385	N	0.01576	-0.805	0.27573	N	0.949829	B	0.02656	0.0	B	0.01281	0.0	T	0.26121	-1.0112	10	0.17832	T	0.49	-11.9272	8.3841	0.32491	0.5998:0.0:0.4002:0.0	.	291	Q96ID5	IGS21_HUMAN	H	291	ENSP00000251296:R291H	ENSP00000251296:R291H	R	+	2	0	IGSF21	18564635	0.997000	0.39634	0.989000	0.46669	0.994000	0.84299	2.560000	0.45896	0.064000	0.16427	0.561000	0.74099	CGC		0.632	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	0	NM_032880		1:18692048
PIK3R5	23533	broad.mit.edu	37	17	8791989	8791989	+	Missense_Mutation	SNP	G	G	C	rs201413001		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:8791989G>C	ENST00000447110.1	-	10	1239	c.1115C>G	c.(1114-1116)tCg>tGg	p.S372W	PIK3R5_ENST00000581552.1_Missense_Mutation_p.S372W|PIK3R5_ENST00000584803.1_Missense_Mutation_p.S372W	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	372					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CAGATGGCGCGAGAGGGCCGG	0.632																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1114-1116)tCg>tGg		phosphoinositide-3-kinase, regulatory subunit 5							63.0	67.0	65.0					17																	8791989		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8791989G>C	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1115C>G	17.37:g.8791989G>C	ENSP00000392812:p.Ser372Trp	False	False		Somatic	0				PIK3R5_ENST00000584803.1_Missense_Mutation_p.S372W|PIK3R5_ENST00000581552.1_Missense_Mutation_p.S372W	p.S372W	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	WXS	Illumina HiSeq	Phase_I	Q8WYR1	PI3R5_HUMAN			10	1239	-			372					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1115C>G	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	4.122	0.020770	0.08006	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.80304	-1.36	5.51	4.53	0.55603	.	0.440169	0.25296	N	0.031685	T	0.81664	0.4870	N	0.24115	0.695	0.48452	D	0.99965	D	0.61697	0.99	P	0.61275	0.886	D	0.84368	0.0542	10	0.87932	D	0	-10.1214	15.3433	0.74314	0.0:0.0:0.8589:0.141	.	372	Q8WYR1	PI3R5_HUMAN	W	372	ENSP00000392812:S372W	ENSP00000269300:S372W	S	-	2	0	PIK3R5	8732714	0.943000	0.32029	0.003000	0.11579	0.023000	0.10783	2.226000	0.42963	1.312000	0.45043	0.650000	0.86243	TCG		0.632	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	0	NM_014308		17:8791989
DIO3	1735	broad.mit.edu	37	14	102028119	102028119	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:102028119G>A	ENST00000510508.4	+	1	432	c.286G>A	c.(286-288)Gat>Aat	p.D96N	DIO3_ENST00000359323.3_Missense_Mutation_p.D70N|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	96					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GGTGCCTCCCGATGACCCGCC	0.642																																						ENST00000510508.4		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(286-288)Gat>Aat		deiodinase, iodothyronine, type III							42.0	48.0	46.0					14																	102028119		1996	4141	6137	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028119G>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.286G>A	14.37:g.102028119G>A	ENSP00000427336:p.Asp96Asn	True	False		Somatic	0				DIO3_ENST00000359323.3_Missense_Mutation_p.D70N	p.D96N			WXS	Illumina HiSeq	Phase_I	P55073	IOD3_HUMAN			1	432	+		all_neural(303;0.185)	70					G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.286G>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	g	18.36	3.607744	0.66558	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.35236	1.37;1.32	3.21	3.21	0.36854	.	0.000000	0.40302	U	0.001121	T	0.54565	0.1866	M	0.80028	2.48	0.28273	N	0.924327	D	0.89917	1.0	D	0.70227	0.968	T	0.46679	-0.9174	10	0.34782	T	0.22	.	7.8692	0.29556	0.124:0.0:0.876:0.0	.	70	P55073	IOD3_HUMAN	N	70;96	ENSP00000352273:D70N;ENSP00000427336:D96N	ENSP00000352273:D96N	D	+	1	0	DIO3;AL049836.1	101097872	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.208000	0.72165	1.608000	0.50180	0.457000	0.33378	GAT		0.642	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	0	NM_001362		14:102028119
BAHCC1	57597	broad.mit.edu	37	17	79412086	79412086	+	Missense_Mutation	SNP	G	G	A	rs553180909		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:79412086G>A	ENST00000307745.7	+	13	2717	c.2717G>A	c.(2716-2718)gGc>gAc	p.G906D																								ATGTACGGGGGCCGGGGCCCC	0.706																																						ENST00000307745.7		NA																	0					NA						c.(2716-2718)gGc>gAc									6.0	7.0	7.0					17																	79412086		1924	4058	5982	SO:0001583	missense	0							g.chr17:79412086G>A																												ENST00000307745.7:c.2717G>A	17.37:g.79412086G>A	ENSP00000303486:p.Gly906Asp	True	False		Somatic	0					p.G906D			WXS	Illumina HiSeq	Phase_I					13	2717	+			NA						Missense_Mutation	SNP	ENST00000307745.7	37	c.2717G>A		.	.	.	.	.	.	.	.	.	.	G	15.70	2.910760	0.52439	.	.	ENSG00000171282	ENST00000307745	T	0.15603	2.41	4.41	2.27	0.28462	.	0.556047	0.14981	N	0.287278	T	0.21103	0.0508	L	0.59436	1.845	0.25576	N	0.98684	P;P	0.44429	0.808;0.835	B;B	0.41894	0.231;0.369	T	0.06789	-1.0807	10	0.72032	D	0.01	.	13.4604	0.61223	0.0:0.313:0.687:0.0	.	906;906	Q9P281;F8WBW8	BAHC1_HUMAN;.	D	906	ENSP00000303486:G906D	ENSP00000303486:G906D	G	+	2	0	AC110285.1	77026681	0.917000	0.31117	0.997000	0.53966	0.907000	0.53573	1.436000	0.34980	0.400000	0.25396	0.430000	0.28490	GGC		0.706	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0			17:79412086
PRAMEF3	401940	broad.mit.edu	37	1	13330615	13330615	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:13330615A>G	ENST00000353410.5	-	2	691	c.665T>C	c.(664-666)gTa>gCa	p.V222A	PRAMEF3_ENST00000376173.3_Missense_Mutation_p.V224A			Q5TYW8	PRAM3_HUMAN	PRAME family member 3	222					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					ovary(1)	1	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATAAACTCTACTATCATACA	0.423																																						ENST00000353410.5		NA																	0				ovary(1)	1						c.(664-666)gTa>gCa		PRAME family member 3							112.0	72.0	90.0					1																	13330615		1378	1647	3025	SO:0001583	missense	401940							g.chr1:13330615A>G			1p36.21	2013-01-17			ENSG00000204503			"""-"""	14087	protein-coding gene	gene with protein product							Standard			Approved		uc001aut.1	Q5TYW8	OTTHUMG00000009404	ENST00000353410.5:c.665T>C	1.37:g.13330615A>G	ENSP00000334892:p.Val222Ala	False	False		Somatic	0				PRAMEF3_ENST00000376173.3_Missense_Mutation_p.V224A	p.V222A			WXS	Illumina HiSeq	Phase_I				UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	691	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	NA						Missense_Mutation	SNP	ENST00000353410.5	37	c.665T>C		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.515063	0.00151	.	.	ENSG00000204503	ENST00000353410;ENST00000376173	T;T	0.15372	2.43;2.43	1.32	-2.63	0.06133	.	0.521004	0.18063	N	0.152879	T	0.03390	0.0098	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31081	-0.9956	10	0.02654	T	1	.	2.6954	0.05133	0.366:0.2703:0.3637:0.0	.	222	Q5TYW8	PRAM3_HUMAN	A	222;224	ENSP00000334892:V222A;ENSP00000365343:V224A	ENSP00000334892:V222A	V	-	2	0	PRAMEF3	13203202	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.250000	0.02885	-0.924000	0.03780	0.136000	0.15936	GTA		0.423	PRAMEF3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000026088.1	0	NM_001013692		1:13330615
ZNF423	23090	broad.mit.edu	37	16	49671084	49671084	+	Missense_Mutation	SNP	C	C	T	rs200218868		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:49671084C>T	ENST00000561648.1	-	4	2032	c.1979G>A	c.(1978-1980)cGg>cAg	p.R660Q	ZNF423_ENST00000562520.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000562871.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.R600Q|ZNF423_ENST00000262383.2_Missense_Mutation_p.R660Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.R543Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R543Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	660					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGCTTGCTTCCGCAGCAGCAG	0.552																																						ENST00000561648.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(1978-1980)cGg>cAg		zinc finger protein 423							47.0	47.0	47.0					16																	49671084		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671084C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1979G>A	16.37:g.49671084C>T	ENSP00000455426:p.Arg660Gln	True	False		Somatic	0				ZNF423_ENST00000567169.1_Missense_Mutation_p.R543Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.R600Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R543Q|ZNF423_ENST00000262383.2_Missense_Mutation_p.R660Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000562871.1_Missense_Mutation_p.R600Q	p.R660Q	NM_001271620.1	NP_001258549.1	WXS	Illumina HiSeq	Phase_I	Q2M1K9	ZN423_HUMAN			4	2032	-		all_cancers(37;0.0155)	660					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1979G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225160	0.58668	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.30714	1.52;1.52	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.42529	1.33	0.48830	D	0.999718	B	0.29862	0.259	B	0.23150	0.044	T	0.04454	-1.0950	9	.	.	.	.	18.0121	0.89227	0.0:1.0:0.0:0.0	.	660	Q2M1K9	ZN423_HUMAN	Q	660;543	ENSP00000262383:R660Q;ENSP00000442321:R543Q	.	R	-	2	0	ZNF423	48228585	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.679000	0.61649	2.250000	0.74265	0.462000	0.41574	CGG		0.552	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	0	NM_015069		16:49671084
NR0B1	190	broad.mit.edu	37	X	30326930	30326930	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:30326930T>G	ENST00000378970.4	-	1	785	c.551A>C	c.(550-552)aAa>aCa	p.K184T	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.K184T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	184	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TAGCGCCTCTTTACCCCCTGG	0.692											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378970.4		NA																	0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(550-552)aAa>aCa		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						11.0	9.0	10.0					X																	30326930		2189	4273	6462	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30326930T>G	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.551A>C	X.37:g.30326930T>G	ENSP00000368253:p.Lys184Thr	True	False		Somatic	0	OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816	NR0B1_ENST00000453287.1_Missense_Mutation_p.K184T	p.K184T	NM_000475.4	NP_000466.2	WXS	Illumina HiSeq	Phase_I	P51843	NR0B1_HUMAN			1	785	-			184			4 X 67 AA tandem repeats.		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.551A>C	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	T	2.662	-0.279477	0.05642	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97752	-3.63;-4.52	4.32	0.238	0.15480	.	1.525170	0.04086	N	0.310508	D	0.91597	0.7345	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	D	0.85206	0.1018	10	0.52906	T	0.07	0.6249	4.5457	0.12079	0.0:0.422:0.3572:0.2207	.	184	P51843	NR0B1_HUMAN	T	184	ENSP00000368253:K184T;ENSP00000396403:K184T	ENSP00000368253:K184T	K	-	2	0	NR0B1	30236851	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.356000	0.07661	-0.201000	0.10284	-0.402000	0.06365	AAA		0.692	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	0	NM_000475		X:30326930
GLI3	2737	broad.mit.edu	37	7	42005299	42005299	+	Silent	SNP	G	G	A	rs542238121		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:42005299G>A	ENST00000395925.3	-	15	3456	c.3372C>T	c.(3370-3372)caC>caT	p.H1124H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1124					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CACCGGGCCCGTGGGGCACTT	0.657									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G|||	1	0.000199681	0.0	0.0	5008	,	,		15149	0.001		0.0	False		,,,				2504	0.0					ENST00000395925.3		NA																	0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3370-3372)caC>caT		GLI family zinc finger 3							54.0	60.0	58.0					7																	42005299		2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005299G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3372C>T	7.37:g.42005299G>A		True	False		Somatic	0				GLI3_ENST00000479210.1_5'UTR	p.H1124H	NM_000168.5	NP_000159.3	WXS	Illumina HiSeq	Phase_I	P10071	GLI3_HUMAN			15	3456	-			1124					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3372C>T	CCDS5465.1																																																																																				0.657	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	0	NM_000168		7:42005299
AMZ2	51321	broad.mit.edu	37	17	66253070	66253070	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:66253070A>C	ENST00000359904.3	+	7	2175	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	AMZ2_ENST00000577985.1_Missense_Mutation_p.K348T|AMZ2_ENST00000577273.1_3'UTR|AMZ2_ENST00000580753.1_Missense_Mutation_p.K348T|AMZ2_ENST00000392720.2_Missense_Mutation_p.K348T|AMZ2_ENST00000359783.4_Missense_Mutation_p.K290T|AMZ2_ENST00000577866.1_Missense_Mutation_p.K348T|ARSG_ENST00000448504.2_5'Flank	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	348							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGGAATGGAAAGAGTGGATA	0.398																																						ENST00000359904.3		NA																	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(1042-1044)aAa>aCa		archaelysin family metallopeptidase 2							97.0	93.0	95.0					17																	66253070		2203	4300	6503	SO:0001583	missense	51321						metallopeptidase activity|zinc ion binding	g.chr17:66253070A>C	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.1043A>C	17.37:g.66253070A>C	ENSP00000352976:p.Lys348Thr	True	False		Somatic	0				AMZ2_ENST00000577866.1_Missense_Mutation_p.K348T|AMZ2_ENST00000577273.1_3'UTR|AMZ2_ENST00000577985.1_Missense_Mutation_p.K348T|AMZ2_ENST00000359783.4_Missense_Mutation_p.K290T|AMZ2_ENST00000392720.2_Missense_Mutation_p.K348T|AMZ2_ENST00000580753.1_Missense_Mutation_p.K348T	p.K348T	NM_016627.4	NP_057711.3	WXS	Illumina HiSeq	Phase_I	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	2175	+	all_cancers(12;1.12e-09)		348					A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	ENST00000359904.3	37	c.1043A>C	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	A	6.893	0.534347	0.13188	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.33865	1.39;1.39;1.39	3.42	-3.74	0.04385	.	0.527164	0.15835	N	0.242322	T	0.28928	0.0718	L	0.54323	1.7	0.40767	D	0.983057	B;B	0.32245	0.181;0.361	B;B	0.31686	0.134;0.134	T	0.06110	-1.0845	10	0.51188	T	0.08	-21.1054	10.9082	0.47092	0.2793:0.0:0.7207:0.0	.	290;348	A6NLD9;Q86W34	.;AMZ2_HUMAN	T	348;290;348	ENSP00000352976:K348T;ENSP00000352831:K290T;ENSP00000376481:K348T	ENSP00000352831:K290T	K	+	2	0	AMZ2	63764665	0.719000	0.27986	0.392000	0.26245	0.101000	0.19017	0.235000	0.17948	-0.834000	0.04239	-0.353000	0.07706	AAA		0.398	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	0	NM_016627		17:66253070
TRPV4	59341	broad.mit.edu	37	12	110221488	110221488	+	Missense_Mutation	SNP	G	G	A	rs372583866		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:110221488G>A	ENST00000418703.2	-	15	2648	c.2554C>T	c.(2554-2556)Cgc>Tgc	p.R852C	TRPV4_ENST00000392719.2_Missense_Mutation_p.R805C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R792C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R818C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R792C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R745C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R852C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R805C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	852					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCATCGCAGCGGGGGTTCCCC	0.642																																						ENST00000418703.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(2554-2556)Cgc>Tgc		transient receptor potential cation channel, subfamily V, member 4		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	65.0	55.0	58.0		2413,2452,2233,2554,2374	1.7	1.0	12		58	1,8599		0,1,4299	no	missense,missense,missense,missense,missense	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	805/825,818/838,745/765,852/872,792/812	110221488	1,13005	2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110221488G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2554C>T	12.37:g.110221488G>A	ENSP00000406191:p.Arg852Cys	True	False		Somatic	0				TRPV4_ENST00000261740.2_Missense_Mutation_p.R852C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R792C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R745C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R818C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R792C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R805C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R805C	p.R852C	NM_001177431.1	NP_001170902.1	WXS	Illumina HiSeq	Phase_I	Q9HBA0	TRPV4_HUMAN			15	2648	-			852					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.2554C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909237	0.33721	0.0	1.16E-4	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.29;-2.5;-2.29;-2.5;-2.29;-2.5	5.39	1.7	0.24286	.	0.722577	0.14111	N	0.340695	T	0.72028	0.3410	N	0.08118	0	0.28470	N	0.915481	P;B;P;B;B	0.41546	0.754;0.389;0.584;0.34;0.167	B;B;B;B;B	0.34722	0.188;0.083;0.13;0.097;0.123	T	0.67604	-0.5628	10	0.62326	D	0.03	-0.0455	4.314	0.10984	0.0:0.2373:0.1878:0.5749	.	792;852;745;805;818	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	C	852;852;805;792;745;792;805;818	ENSP00000406191:R852C;ENSP00000261740:R852C;ENSP00000376480:R805C;ENSP00000319003:R792C;ENSP00000443611:R745C;ENSP00000442738:R792C;ENSP00000442167:R805C;ENSP00000444336:R818C	ENSP00000261740:R852C	R	-	1	0	TRPV4	108705871	0.983000	0.35010	0.998000	0.56505	0.533000	0.34776	0.091000	0.15046	0.356000	0.24157	-0.397000	0.06425	CGC		0.642	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	0	NM_021625		12:110221488
CLIP1	6249	broad.mit.edu	37	12	122825945	122825945	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:122825945G>A	ENST00000540338.1	-	10	1847	c.1806C>T	c.(1804-1806)aaC>aaT	p.N602N	CLIP1_ENST00000358808.2_Silent_p.N591N|CLIP1_ENST00000361654.4_Silent_p.N556N|CLIP1_ENST00000537178.1_Silent_p.N556N|CLIP1_ENST00000545889.1_Silent_p.N292N|CLIP1_ENST00000302528.7_Silent_p.N591N			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	602					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCAATGACTCGTTCTCTTTGG	0.468																																						ENST00000358808.2		NA																	0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1771-1773)aaC>aaT		CAP-GLY domain containing linker protein 1							140.0	131.0	134.0					12																	122825945		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825945G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1806C>T	12.37:g.122825945G>A		False	False		Somatic	0				CLIP1_ENST00000361654.4_Silent_p.N556N|CLIP1_ENST00000540338.1_Silent_p.N602N|CLIP1_ENST00000537178.1_Silent_p.N556N|CLIP1_ENST00000545889.1_Silent_p.N292N|CLIP1_ENST00000302528.7_Silent_p.N591N	p.N591N	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	WXS	Illumina HiSeq	Phase_I	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	1927	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		602					A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.1773C>T	CCDS58285.1																																																																																				0.468	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	0	NM_002956		12:122825945
TCERG1	10915	broad.mit.edu	37	5	145886749	145886749	+	Silent	SNP	A	A	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:145886749A>G	ENST00000296702.5	+	19	2927	c.2889A>G	c.(2887-2889)caA>caG	p.Q963Q	TCERG1_ENST00000394421.2_Silent_p.Q942Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	963	FF 5.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTTAGGCAACTTCTGGATG	0.338																																						ENST00000296702.5		NA																	0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(2887-2889)caA>caG		transcription elongation regulator 1							78.0	83.0	81.0					5																	145886749		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145886749A>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2889A>G	5.37:g.145886749A>G		False	False		Somatic	0				TCERG1_ENST00000394421.2_Silent_p.Q942Q	p.Q963Q	NM_006706.3	NP_006697.2	WXS	Illumina HiSeq	Phase_I	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2927	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	963			FF 5.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.2889A>G	CCDS4282.1																																																																																				0.338	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	0	NM_001040006		5:145886749
JPH4	84502	broad.mit.edu	37	14	24040339	24040339	+	Missense_Mutation	SNP	C	C	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:24040339C>A	ENST00000397118.3	-	6	2503	c.1601G>T	c.(1600-1602)gGc>gTc	p.G534V	JPH4_ENST00000544177.1_Missense_Mutation_p.G199V|JPH4_ENST00000356300.4_Missense_Mutation_p.G534V	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	534					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTCGCTGCAGCCTCCGAGGAG	0.667																																						ENST00000397118.3		NA																	0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1600-1602)gGc>gTc		junctophilin 4							133.0	139.0	137.0					14																	24040339		2203	4300	6503	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040339C>A	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1601G>T	14.37:g.24040339C>A	ENSP00000380307:p.Gly534Val	False	False		Somatic	0				JPH4_ENST00000356300.4_Missense_Mutation_p.G534V|JPH4_ENST00000544177.1_Missense_Mutation_p.G199V	p.G534V	NM_032452.2	NP_115828.2	WXS	Illumina HiSeq	Phase_I	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2503	-	all_cancers(95;0.000251)		534					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1601G>T	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360244	0.61403	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.58797	0.31;0.31;0.49	5.08	4.18	0.49190	.	0.000000	0.30620	U	0.009234	T	0.47078	0.1426	N	0.24115	0.695	0.54753	D	0.99998	P;P	0.44241	0.733;0.829	P;B	0.44811	0.461;0.272	T	0.37842	-0.9688	10	0.29301	T	0.29	.	13.4287	0.61042	0.0:0.8261:0.1739:0.0	.	199;534	F5H1L9;Q96JJ6	.;JPH4_HUMAN	V	534;534;534;535;199	ENSP00000348648:G534V;ENSP00000380307:G534V;ENSP00000439562:G199V	ENSP00000267407:G535V	G	-	2	0	JPH4	23110179	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	2.118000	0.41949	1.246000	0.43901	-0.211000	0.12701	GGC		0.667	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	0	NM_032452		14:24040339
AKAP8L	26993	broad.mit.edu	37	19	15512085	15512085	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:15512085C>T	ENST00000397410.5	-	5	822	c.692G>A	c.(691-693)gGc>gAc	p.G231D	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.G170D	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	231						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTGGAACATGCCGTACTCGGG	0.657																																						ENST00000397410.5		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(691-693)gGc>gAc		A kinase (PRKA) anchor protein 8-like							67.0	78.0	75.0					19																	15512085		1953	4150	6103	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512085C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.692G>A	19.37:g.15512085C>T	ENSP00000380557:p.Gly231Asp	False	False		Somatic	0				AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.G170D	p.G231D	NM_014371.2	NP_055186.2	WXS	Illumina HiSeq	Phase_I	Q9ULX6	AKP8L_HUMAN			5	822	-			NA					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.692G>A	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614850	0.46631	.	.	ENSG00000011243	ENST00000397410	T	0.58797	0.31	4.78	4.78	0.61160	.	0.279153	0.33401	N	0.004959	T	0.51312	0.1667	L	0.49778	1.585	0.37846	D	0.929235	B;B;B;B	0.32245	0.111;0.361;0.357;0.111	B;B;B;B	0.36289	0.053;0.176;0.221;0.053	T	0.57112	-0.7867	10	0.41790	T	0.15	-7.0541	9.0984	0.36653	0.0:0.8992:0.0:0.1008	.	170;1;231;231	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	D	231	ENSP00000380557:G231D	ENSP00000380557:G231D	G	-	2	0	AKAP8L	15373085	0.996000	0.38824	0.985000	0.45067	0.927000	0.56198	3.418000	0.52721	2.206000	0.71126	0.591000	0.81541	GGC		0.657	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	0	NM_014371		19:15512085
PLEKHG2	64857	broad.mit.edu	37	19	39914871	39914871	+	Nonsense_Mutation	SNP	C	C	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:39914871C>G	ENST00000409794.3	+	19	3948	c.3098C>G	c.(3097-3099)tCa>tGa	p.S1033*	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000425673.1_Nonsense_Mutation_p.S1004*|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.S974*|CTB-60E11.4_ENST00000601124.1_lincRNA	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1033					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCACAGTTTCAGTCACCACC	0.547																																						ENST00000425673.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(3010-3012)tCa>tGa		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							126.0	115.0	119.0					19																	39914871		2203	4300	6503	SO:0001587	stop_gained	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39914871C>G	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3098C>G	19.37:g.39914871C>G	ENSP00000386733:p.Ser1033*	True	False		Somatic	0				PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000409794.3_Nonsense_Mutation_p.S1033*|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.S974*	p.S1004*			WXS	Illumina HiSeq	Phase_I	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		17	3336	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		1033					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Nonsense_Mutation	SNP	ENST00000409794.3	37	c.3011C>G	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.087494|6.087494	0.97271|0.97271	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|.	.|.	.|.	3.08|3.08	-3.41|-3.41	0.04839|0.04839	.|.	.|1.788450	.|0.03467	.|N	.|0.213043	T|.	0.31513|.	0.0799|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26538|.	-1.0100|.	4|.	.|0.28530	.|T	.|0.3	.|.	9.007|9.007	0.36117|0.36117	0.0:0.6787:0.0:0.3213|0.0:0.6787:0.0:0.3213	.|.	.|.	.|.	.|.	E|X	901|1033;1004;974	.|.	.|ENSP00000386733:S1033X	Q|S	+|+	1|2	0|0	PLEKHG2|PLEKHG2	44606711|44606711	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.725000|0.725000	0.41563|0.41563	-0.142000|-0.142000	0.10311|0.10311	-0.739000|-0.739000	0.04809|0.04809	0.491000|0.491000	0.48974|0.48974	CAG|TCA		0.547	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	0	NM_022835		19:39914871
HECTD4	283450	broad.mit.edu	37	12	112642326	112642326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:112642326C>A	ENST00000430131.2	-	52	8112	c.6967G>T	c.(6967-6969)Gaa>Taa	p.E2323*	HECTD4_ENST00000377560.5_Nonsense_Mutation_p.E2573*|HECTD4_ENST00000550722.1_Nonsense_Mutation_p.E2599*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2323					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)										TTGTTTGCTTCGTCTTTAATG	0.393																																						ENST00000550722.1		NA																	0					NA						c.(7795-7797)Gaa>Taa		HECT domain containing E3 ubiquitin protein ligase 4							95.0	95.0	95.0					12																	112642326		1896	4103	5999	SO:0001587	stop_gained	283450							g.chr12:112642326C>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.6967G>T	12.37:g.112642326C>A	ENSP00000404379:p.Glu2323*	False	False		Somatic	0				HECTD4_ENST00000430131.2_Nonsense_Mutation_p.E2323*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.E2573*	p.E2599*	NM_001109662.3	NP_001103132.3	WXS	Illumina HiSeq	Phase_I					53	8190	-			NA					L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37	c.7795G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.857617	0.97030	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	2573;2323;2599	.	ENSP00000366783:E2573X	E	-	1	0	C12orf51	111126709	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	7.261000	0.78400	2.941000	0.99782	0.655000	0.94253	GAA		0.393	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		0	NM_173813		12:112642326
CADM2	253559	broad.mit.edu	37	3	86010650	86010650	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:86010650G>A	ENST00000407528.2	+	7	858	c.796G>A	c.(796-798)Gga>Aga	p.G266R	CADM2_ENST00000405615.2_Missense_Mutation_p.G268R|CADM2_ENST00000383699.3_Missense_Mutation_p.G275R	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	266	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AAAGGATGGCGGAGAATTACC	0.378																																						ENST00000383699.3		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(823-825)Gga>Aga		cell adhesion molecule 2							145.0	142.0	143.0					3																	86010650		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86010650G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.796G>A	3.37:g.86010650G>A	ENSP00000384575:p.Gly266Arg	False	False		Somatic	0				CADM2_ENST00000405615.2_Missense_Mutation_p.G268R|CADM2_ENST00000407528.2_Missense_Mutation_p.G266R	p.G275R	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	WXS	Illumina HiSeq	Phase_I	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	8	1450	+		Lung NSC(201;0.0148)	266			Ig-like C2-type 2.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.823G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704519	0.88924	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.65732	-0.17;-0.17;-0.17	5.31	5.31	0.75309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.153416	0.64402	D	0.000017	T	0.70482	0.3229	L	0.33339	1.005	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.72982	0.979;0.845;0.967	T	0.65619	-0.6124	10	0.25751	T	0.34	.	19.3281	0.94270	0.0:0.0:1.0:0.0	.	268;275;266	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	R	275;266;268	ENSP00000373200:G275R;ENSP00000384575:G266R;ENSP00000384193:G268R	ENSP00000373200:G275R	G	+	1	0	CADM2	86093340	1.000000	0.71417	0.960000	0.40013	0.967000	0.64934	7.558000	0.82253	2.629000	0.89072	0.650000	0.86243	GGA		0.378	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	0	NM_153184		3:86010650
BNIP3P1	319138	broad.mit.edu	37	14	28734026	28734026	+	RNA	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:28734026G>T	ENST00000550043.1	+	0	431									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		GCATTGGAGAGAAAAACAGCT	0.453																																						ENST00000550043.1		NA																	0					NA																																														0							g.chr14:28734026G>T			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28734026G>T		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	431	+			NA						RNA	SNP	ENST00000550043.1	37																																																																																						0.453	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1	0			14:28734026
COX7B2	170712	broad.mit.edu	37	4	46737152	46737152	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:46737152G>C	ENST00000396533.1	-	4	308	c.58C>G	c.(58-60)Caa>Gaa	p.Q20E	COX7B2_ENST00000302930.5_Missense_Mutation_p.Q20E|COX7B2_ENST00000355591.3_Missense_Mutation_p.Q20E|COX7B2_ENST00000543208.1_Missense_Mutation_p.Q19E			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	20						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(4)	5						GCCATGCTTTGCAGAATGCTT	0.423																																						ENST00000396533.1		NA																	0				large_intestine(1)|lung(4)	5						c.(58-60)Caa>Gaa		cytochrome c oxidase subunit VIIb2							158.0	137.0	144.0					4																	46737152		2203	4300	6503	SO:0001583	missense	170712					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr4:46737152G>C	AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.58C>G	4.37:g.46737152G>C	ENSP00000379784:p.Gln20Glu	True	False		Somatic	0				COX7B2_ENST00000355591.3_Missense_Mutation_p.Q20E|COX7B2_ENST00000302930.5_Missense_Mutation_p.Q20E|COX7B2_ENST00000543208.1_Missense_Mutation_p.Q19E	p.Q20E			WXS	Illumina HiSeq	Phase_I	Q8TF08	CX7B2_HUMAN			4	308	-			20					Q32Q40	Missense_Mutation	SNP	ENST00000396533.1	37	c.58C>G	CCDS3472.2	.	.	.	.	.	.	.	.	.	.	G	5.784	0.329026	0.10956	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208;ENST00000505102	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	4.22	1.33	0.21861	.	0.393840	0.25771	N	0.028415	T	0.29256	0.0728	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.24368	-1.0162	9	0.72032	D	0.01	-8.2035	6.926	0.24416	0.0:0.3509:0.4531:0.1959	.	20	Q8TF08	CX7B2_HUMAN	E	20;20;20;19;20	ENSP00000347799:Q20E;ENSP00000379784:Q20E;ENSP00000305964:Q20E;ENSP00000437439:Q19E;ENSP00000423519:Q20E	ENSP00000305964:Q20E	Q	-	1	0	COX7B2	46431909	0.003000	0.15002	0.019000	0.16419	0.193000	0.23685	1.002000	0.29796	0.255000	0.21593	0.585000	0.79938	CAA		0.423	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313899.1	0	NM_130902		4:46737152
FREM2	341640	broad.mit.edu	37	13	39262875	39262875	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr13:39262875C>T	ENST00000280481.7	+	1	1610	c.1394C>T	c.(1393-1395)cCg>cTg	p.P465L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	465					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P465L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGCAGTGGTCCGCAAAACTTG	0.582																																						ENST00000280481.7		NA																	1	Substitution - Missense(1)	p.P465L(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1393-1395)cCg>cTg		FRAS1 related extracellular matrix protein 2							51.0	54.0	53.0					13																	39262875		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262875C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1394C>T	13.37:g.39262875C>T	ENSP00000280481:p.Pro465Leu	False	False		Somatic	0					p.P465L	NM_207361.4	NP_997244.3	WXS	Illumina HiSeq	Phase_I	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1610	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	465					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1394C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	3.698	-0.062202	0.07317	.	.	ENSG00000150893	ENST00000280481	T	0.18174	2.23	5.6	2.0	0.26442	.	0.505278	0.18484	N	0.139857	T	0.13756	0.0333	L	0.43152	1.355	0.09310	N	0.999998	B	0.13145	0.007	B	0.06405	0.002	T	0.21621	-1.0240	10	0.34782	T	0.22	.	8.9993	0.36072	0.0:0.6923:0.0:0.3077	.	465	Q5SZK8	FREM2_HUMAN	L	465	ENSP00000280481:P465L	ENSP00000280481:P465L	P	+	2	0	FREM2	38160875	0.000000	0.05858	0.001000	0.08648	0.248000	0.25809	0.505000	0.22642	0.063000	0.16370	-1.036000	0.02392	CCG		0.582	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	0	NM_207361		13:39262875
DOCK4	9732	broad.mit.edu	37	7	111368508	111368508	+	Missense_Mutation	SNP	C	C	T	rs374504389		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:111368508C>T	ENST00000437633.1	-	52	5979	c.5723G>A	c.(5722-5724)cGg>cAg	p.R1908Q	DOCK4_ENST00000428084.1_Missense_Mutation_p.R1917Q|DOCK4_ENST00000494651.2_Missense_Mutation_p.R791Q	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1908	Pro-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCGCAGAGTCCGCTCGTAGAC	0.731																																						ENST00000428084.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(5749-5751)cGg>cAg		dedicator of cytokinesis 4		C	GLN/ARG	0,4120		0,0,2060	23.0	29.0	27.0		5723	5.6	1.0	7		27	1,8365		0,1,4182	no	missense	DOCK4	NM_014705.3	43	0,1,6242	TT,TC,CC		0.012,0.0,0.0080	probably-damaging	1908/1967	111368508	1,12485	2060	4183	6243	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111368508C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5723G>A	7.37:g.111368508C>T	ENSP00000404179:p.Arg1908Gln	False	False		Somatic	0				DOCK4_ENST00000437633.1_Missense_Mutation_p.R1908Q|DOCK4_ENST00000494651.2_Missense_Mutation_p.R791Q	p.R1917Q			WXS	Illumina HiSeq	Phase_I	Q8N1I0	DOCK4_HUMAN			53	6022	-		Acute lymphoblastic leukemia(1;0.0441)	1908		P -> L.	Pro-rich.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.5750G>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.850010|5.850010	0.97023|0.97023	0.0|0.0	1.2E-4|1.2E-4	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.32753	.|1.44;1.44;1.44	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53706|0.53706	0.1813|0.1813	L|L	0.57536|0.57536	1.79|1.79	0.46927|0.46927	D|D	0.999258|0.999258	.|D;P;D;D;D;D	.|0.89917	.|0.994;0.951;0.981;0.994;0.997;1.0	.|D;B;B;D;D;D	.|0.85130	.|0.921;0.404;0.391;0.921;0.964;0.997	T|T	0.40515|0.40515	-0.9559|-0.9559	5|10	.|0.33141	.|T	.|0.24	.|.	19.5919|19.5919	0.95518|0.95518	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|777;791;1953;1908;1879;221	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2;Q8N1I0-4	.|.;.;.;DOCK4_HUMAN;.;.	R|Q	1331;1941|1896;1917;791;1908;1867	.|ENSP00000410746:R1917Q;ENSP00000440944:R791Q;ENSP00000404179:R1908Q	.|ENSP00000345432:R1867Q	G|R	-|-	1|2	0|0	DOCK4|DOCK4	111155744|111155744	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.513000|5.513000	0.67037|0.67037	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.731	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	0	NM_014705		7:111368508
ITSN2	50618	broad.mit.edu	37	2	24533237	24533237	+	Missense_Mutation	SNP	C	C	T	rs550046461		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:24533237C>T	ENST00000355123.4	-	7	1012	c.569G>A	c.(568-570)gGg>gAg	p.G190E	ITSN2_ENST00000361999.3_Missense_Mutation_p.G190E|ITSN2_ENST00000406921.3_Missense_Mutation_p.G190E|ITSN2_ENST00000407704.1_5'Flank	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	190					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAAGATGACCCATGAGGCAA	0.343													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17730	0.0		0.0	False		,,,				2504	0.0					ENST00000355123.4		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(568-570)gGg>gAg		intersectin 2							191.0	202.0	198.0					2																	24533237		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24533237C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.569G>A	2.37:g.24533237C>T	ENSP00000347244:p.Gly190Glu	True	False		Somatic	0				ITSN2_ENST00000361999.3_Missense_Mutation_p.G190E|ITSN2_ENST00000406921.3_Missense_Mutation_p.G190E	p.G190E	NM_006277.2	NP_006268.2	WXS	Illumina HiSeq	Phase_I	Q9NZM3	ITSN2_HUMAN			7	1012	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		190					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.569G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868542	0.32977	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011;ENST00000443927	T;T;T;T;T;T	0.59906	0.25;0.23;0.25;0.65;0.74;1.57	4.98	4.1	0.47936	.	0.809232	0.09677	U	0.770329	T	0.49779	0.1577	N	0.14661	0.345	0.24743	N	0.993024	B;B;B;P	0.40050	0.131;0.131;0.314;0.7	B;B;B;P	0.44477	0.028;0.028;0.041;0.451	T	0.48410	-0.9038	10	0.56958	D	0.05	.	13.9001	0.63797	0.0:0.1599:0.8401:0.0	.	190;190;190;190	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	E	190;190;190;189;190;190;176	ENSP00000354561:G190E;ENSP00000347244:G190E;ENSP00000370250:G190E;ENSP00000384499:G190E;ENSP00000391224:G190E;ENSP00000391715:G176E	ENSP00000347244:G190E	G	-	2	0	ITSN2	24386741	1.000000	0.71417	0.889000	0.34880	0.766000	0.43426	3.658000	0.54482	1.218000	0.43458	-0.499000	0.04595	GGG		0.343	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	0	NM_006277		2:24533237
DYNC2H1	79659	broad.mit.edu	37	11	102980335	102980335	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:102980335T>C	ENST00000375735.2	+	1	176	c.32T>C	c.(31-33)cTc>cCc	p.L11P	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.L11P|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L11P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	11	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTCGGAAGCTCTTCATCTTC	0.507																																						ENST00000375735.2		NA																	0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(31-33)cTc>cCc		dynein, cytoplasmic 2, heavy chain 1							60.0	57.0	58.0					11																	102980335		1878	4110	5988	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102980335T>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.32T>C	11.37:g.102980335T>C	ENSP00000364887:p.Leu11Pro	False	False		Somatic	0				DYNC2H1_ENST00000334267.7_Missense_Mutation_p.L11P|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L11P	p.L11P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	WXS	Illumina HiSeq	Phase_I	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	1	176	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	11			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.32T>C	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.686710	0.29962	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.30182	1.67;1.54;1.67	5.63	3.2	0.36748	.	0.568065	0.12492	U	0.464170	T	0.26738	0.0654	L	0.36672	1.1	0.24814	N	0.992625	B;B;B	0.29590	0.25;0.082;0.066	B;B;B	0.37091	0.241;0.05;0.079	T	0.15578	-1.0432	10	0.30854	T	0.27	.	8.7491	0.34605	0.1029:0.0:0.2424:0.6546	.	11;11;11	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	P	11	ENSP00000364887:L11P;ENSP00000334021:L11P;ENSP00000381167:L11P	ENSP00000334021:L11P	L	+	2	0	DYNC2H1	102485545	0.140000	0.22579	0.989000	0.46669	0.993000	0.82548	0.695000	0.25527	2.137000	0.66172	0.482000	0.46254	CTC		0.507	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	0	XM_370652		11:102980335
ADAMTS15	170689	broad.mit.edu	37	11	130343367	130343367	+	Missense_Mutation	SNP	C	C	T	rs200241034		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:130343367C>T	ENST00000299164.2	+	8	2504	c.2504C>T	c.(2503-2505)cCg>cTg	p.P835L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	835	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTGGAGCAGCCGGACGACAGG	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		13674	0.001		0.0	False		,,,				2504	0.0					ENST00000299164.2		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2503-2505)cCg>cTg		ADAM metallopeptidase with thrombospondin type 1 motif, 15							45.0	55.0	52.0					11																	130343367		2193	4287	6480	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343367C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2504C>T	11.37:g.130343367C>T	ENSP00000299164:p.Pro835Leu	False	False		Somatic	0					p.P835L	NM_139055.2	NP_620686.1	WXS	Illumina HiSeq	Phase_I	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2504	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	835			Spacer.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2504C>T	CCDS8488.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.83	1.754593	0.31046	.	.	ENSG00000166106	ENST00000299164	T	0.61742	0.08	5.69	4.77	0.60923	.	.	.	.	.	T	0.35393	0.0930	N	0.08118	0	0.37764	D	0.926416	B	0.25105	0.118	B	0.14578	0.011	T	0.24870	-1.0148	9	0.19147	T	0.46	.	14.1591	0.65434	0.1583:0.8417:0.0:0.0	.	835	Q8TE58	ATS15_HUMAN	L	835	ENSP00000299164:P835L	ENSP00000299164:P835L	P	+	2	0	ADAMTS15	129848577	0.000000	0.05858	0.681000	0.30009	0.939000	0.58152	1.050000	0.30404	1.373000	0.46208	0.655000	0.94253	CCG		0.697	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	0	NM_139055		11:130343367
KPRP	448834	broad.mit.edu	37	1	152733552	152733552	+	Silent	SNP	C	C	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:152733552C>A	ENST00000606109.1	+	1	1516	c.1488C>A	c.(1486-1488)cgC>cgA	p.R496R	KPRP_ENST00000368773.1_Silent_p.R496R			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	496	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACTTGGCGCAGCCCCAGCC	0.647																																						ENST00000368773.1		NA																	0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1486-1488)cgC>cgA		keratinocyte proline-rich protein							45.0	51.0	49.0					1																	152733552		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152733552C>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1488C>A	1.37:g.152733552C>A		False	False		Somatic	0				KPRP_ENST00000606109.1_Silent_p.R496R	p.R496R	NM_001025231.1	NP_001020402.1	WXS	Illumina HiSeq	Phase_I	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1546	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		496			Pro-rich.			Silent	SNP	ENST00000606109.1	37	c.1488C>A	CCDS30862.1																																																																																				0.647	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	0	NM_001025231		1:152733552
ENTPD2	954	broad.mit.edu	37	9	139944888	139944888	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:139944888A>T	ENST00000355097.2	-	6	924	c.877T>A	c.(877-879)Ttc>Atc	p.F293I	ENTPD2_ENST00000312665.5_Missense_Mutation_p.F293I|RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000460614.1_5'Flank	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	293					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTGCTGTTGAAGTTCTGGGGC	0.632											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355097.2		NA																	0				endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12						c.(877-879)Ttc>Atc		ectonucleoside triphosphate diphosphohydrolase 2							54.0	55.0	55.0					9																	139944888		2203	4300	6503	SO:0001583	missense	954					integral to membrane	ATP binding	g.chr9:139944888A>T	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.877T>A	9.37:g.139944888A>T	ENSP00000347213:p.Phe293Ile	False	False		Somatic	0	OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652	ENTPD2_ENST00000312665.5_Missense_Mutation_p.F293I	p.F293I	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	WXS	Illumina HiSeq	Phase_I	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	6	924	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	293					O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	c.877T>A	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.267428	0.40095	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.11277	2.8;2.79	4.95	1.35	0.21983	.	0.427784	0.23684	N	0.045587	T	0.09905	0.0243	L	0.59436	1.845	0.09310	N	1	B;B	0.22541	0.058;0.071	B;B	0.24006	0.03;0.05	T	0.23261	-1.0193	10	0.42905	T	0.14	-9.6179	4.0512	0.09796	0.5803:0.0:0.262:0.1576	.	293;293	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	I	293	ENSP00000347213:F293I;ENSP00000312494:F293I	ENSP00000312494:F293I	F	-	1	0	ENTPD2	139064709	0.411000	0.25384	0.155000	0.22561	0.030000	0.12068	0.623000	0.24447	0.244000	0.21351	0.459000	0.35465	TTC		0.632	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	0	NM_203468		9:139944888
KIAA1804	84451	broad.mit.edu	37	1	233507804	233507804	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:233507804G>A	ENST00000366624.3	+	6	1834	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	MLK4_ENST00000366623.3_Missense_Mutation_p.V525M	NM_032435.2	NP_115811.2																					CAAGATAACCGTGCAGGCCTC	0.507																																						ENST00000366624.3		NA																	0					NA						c.(1573-1575)Gtg>Atg									88.0	88.0	88.0					1																	233507804		2203	4300	6503	SO:0001583	missense	0							g.chr1:233507804G>A																												ENST00000366624.3:c.1573G>A	1.37:g.233507804G>A	ENSP00000355583:p.Val525Met	False	False		Somatic	0				MLK4_ENST00000366623.3_Missense_Mutation_p.V525M	p.V525M	NM_032435.2	NP_115811.2	WXS	Illumina HiSeq	Phase_I					6	1834	+			NA						Missense_Mutation	SNP	ENST00000366624.3	37	c.1573G>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879032	0.91740	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.13657	2.57;2.57	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000003	T	0.40886	0.1135	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	T	0.22173	-1.0224	10	0.54805	T	0.06	.	18.7231	0.91703	0.0:0.0:1.0:0.0	.	525;525	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	M	525	ENSP00000355582:V525M;ENSP00000355583:V525M	ENSP00000355582:V525M	V	+	1	0	RP5-862P8.2	231574427	1.000000	0.71417	0.941000	0.38009	0.997000	0.91878	9.636000	0.98440	2.654000	0.90174	0.650000	0.86243	GTG		0.507	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1	0			1:233507804
RFX4	5992	broad.mit.edu	37	12	107090097	107090097	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:107090097C>T	ENST00000392842.1	+	8	1120	c.706C>T	c.(706-708)Ccg>Tcg	p.P236S	RFX4_ENST00000357881.4_Missense_Mutation_p.P245S|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P142S	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	236					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GCAAGGAATGCCGCCCCACAT	0.552																																						ENST00000392842.1		NA																	0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(706-708)Ccg>Tcg		regulatory factor X, 4 (influences HLA class II expression)							133.0	114.0	121.0					12																	107090097		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107090097C>T	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.706C>T	12.37:g.107090097C>T	ENSP00000376585:p.Pro236Ser	False	False		Somatic	0				RFX4_ENST00000357881.4_Missense_Mutation_p.P245S|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P142S	p.P236S	NM_213594.2	NP_998759.1	WXS	Illumina HiSeq	Phase_I	Q33E94	RFX4_HUMAN			8	1120	+			236					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.706C>T	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022647	0.93462	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	T;T;D;T	0.85955	-0.13;-0.14;-2.05;0.79	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	L	0.60067	1.865	0.80722	D	1	D;D;D;P	0.89917	1.0;0.996;0.996;0.554	D;D;D;P	0.87578	0.998;0.991;0.991;0.449	D	0.91950	0.5570	10	0.87932	D	0	-17.054	19.3157	0.94213	0.0:1.0:0.0:0.0	.	142;245;245;236	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	S	236;245;245;181;142	ENSP00000376585:P236S;ENSP00000350552:P245S;ENSP00000448694:P181S;ENSP00000229387:P142S	ENSP00000229387:P142S	P	+	1	0	RFX4	105614227	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.380000	0.79704	2.551000	0.86045	0.655000	0.94253	CCG		0.552	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	0	NM_032491		12:107090097
ARHGAP5	394	broad.mit.edu	37	14	32623887	32623887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:32623887G>A	ENST00000345122.3	+	7	4557	c.4242G>A	c.(4240-4242)tgG>tgA	p.W1414*	ARHGAP5_ENST00000396582.2_Nonsense_Mutation_p.W149*|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.W1414*|ARHGAP5_ENST00000433497.1_Nonsense_Mutation_p.W153*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.W1413*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.W1413*	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1414	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TCTGTTTTTGGCCAACCTTGA	0.338																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3		NA																	0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(4240-4242)tgG>tgA		Rho GTPase activating protein 5							105.0	97.0	100.0					14																	32623887		2203	4300	6503	SO:0001587	stop_gained	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32623887G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.4242G>A	14.37:g.32623887G>A	ENSP00000371897:p.Trp1414*	False	False		Somatic	0				ARHGAP5_ENST00000396582.2_Nonsense_Mutation_p.W149*|ARHGAP5_ENST00000433497.1_Nonsense_Mutation_p.W153*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.W1413*|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.W1414*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.W1413*	p.W1414*	NM_001030055.1	NP_001025226.1	WXS	Illumina HiSeq	Phase_I	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	7	4557	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1414			Rho-GAP.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	ENST00000345122.3	37	c.4242G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	45	11.775769	0.99601	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000396582;ENST00000345122;ENST00000432921;ENST00000433497	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5752	0.91153	0.0:0.0:1.0:0.0	.	.	.	.	X	1413;1414;149;1414;1413;153	.	ENSP00000371897:W1414X	W	+	3	0	ARHGAP5	31693638	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.748000	0.98867	2.475000	0.83589	0.549000	0.68633	TGG		0.338	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	0	NM_001030055		14:32623887
ENTPD4	9583	broad.mit.edu	37	8	23294452	23294452	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:23294452C>T	ENST00000358689.4	-	10	1604	c.1369G>A	c.(1369-1371)Gca>Aca	p.A457T	ENTPD4_ENST00000356206.6_Missense_Mutation_p.A449T|ENTPD4_ENST00000417069.2_Missense_Mutation_p.A449T|ENTPD4_ENST00000521321.1_5'UTR	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	457					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGTACCTTTGCAGCTTTAGTA	0.483																																						ENST00000358689.4		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1369-1371)Gca>Aca		ectonucleoside triphosphate diphosphohydrolase 4							105.0	110.0	108.0					8																	23294452		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23294452C>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1369G>A	8.37:g.23294452C>T	ENSP00000351520:p.Ala457Thr	False	False		Somatic	0				ENTPD4_ENST00000521321.1_5'UTR|ENTPD4_ENST00000356206.6_Missense_Mutation_p.A449T|ENTPD4_ENST00000417069.2_Missense_Mutation_p.A449T	p.A457T	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	WXS	Illumina HiSeq	Phase_I	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	10	1604	-		Prostate(55;0.114)	457					D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.1369G>A	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132882	0.94517	.	.	ENSG00000197217	ENST00000518471;ENST00000356206;ENST00000358689;ENST00000417069	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.56340	1.77	0.80722	D	1	D;D;D	0.56521	0.976;0.97;0.976	P;P;P	0.61070	0.883;0.857;0.883	T	0.00236	-1.1891	10	0.35671	T	0.21	-17.3279	18.1443	0.89651	0.0:1.0:0.0:0.0	.	449;449;457	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	T	52;449;457;449	ENSP00000430579:A52T;ENSP00000348536:A449T;ENSP00000351520:A457T;ENSP00000408573:A449T	ENSP00000348536:A449T	A	-	1	0	ENTPD4	23350397	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.818000	0.86416	2.631000	0.89168	0.462000	0.41574	GCA		0.483	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	0	NM_004901		8:23294452
GUCD1	83606	broad.mit.edu	37	22	24939822	24939822	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:24939822C>T	ENST00000407471.3	-	5	806	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000404664.3_Missense_Mutation_p.A262T|GUCD1_ENST00000435822.1_Missense_Mutation_p.A206T|GUCD1_ENST00000402766.1_Intron|GUCD1_ENST00000447813.2_Intron	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	206																	TCGGCATAGGCTGGGTTGTTG	0.592																																						ENST00000435822.1		NA																	0					NA						c.(616-618)Gcc>Acc		guanylyl cyclase domain containing 1							52.0	44.0	46.0					22																	24939822		2203	4300	6503	SO:0001583	missense	83606							g.chr22:24939822C>T	AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 13"""	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.616G>A	22.37:g.24939822C>T	ENSP00000386076:p.Ala206Thr	False	False		Somatic	0				GUCD1_ENST00000407471.3_Missense_Mutation_p.A206T|GUCD1_ENST00000447813.2_Intron|GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000402766.1_Intron|GUCD1_ENST00000404664.3_Missense_Mutation_p.A262T	p.A206T	NM_001284252.1|NM_001284254.1|NM_031444.2	NP_001271181.1|NP_001271183.1|NP_113632.2	WXS	Illumina HiSeq	Phase_I					5	940	-			NA					B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	ENST00000407471.3	37	c.616G>A	CCDS33621.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924874	0.73213	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664	.	.	.	4.69	4.69	0.59074	.	0.054782	0.64402	D	0.000001	T	0.77751	0.4177	M	0.81497	2.545	0.80722	D	1	D;D;P;P	0.61697	0.979;0.99;0.924;0.896	P;P;P;P	0.60236	0.652;0.871;0.784;0.673	T	0.81200	-0.1041	9	0.56958	D	0.05	-35.0815	16.9392	0.86211	0.0:1.0:0.0:0.0	.	262;270;163;206	B5MCL7;B4DH83;B4DL90;Q96NT3	.;.;.;CV013_HUMAN	T	206;206;262	.	ENSP00000381297:A206T	A	-	1	0	C22orf13	23269822	1.000000	0.71417	0.888000	0.34837	0.088000	0.18126	7.586000	0.82596	2.304000	0.77564	0.563000	0.77884	GCC		0.592	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319819.1	0	NM_031444		22:24939822
DIDO1	11083	broad.mit.edu	37	20	61512959	61512959	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:61512959G>A	ENST00000266070.4	-	16	4674	c.4349C>T	c.(4348-4350)gCc>gTc	p.A1450V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1450V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1450					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTCACGTCGGCACACATCCT	0.607																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4		NA																	0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4348-4350)gCc>gTc		death inducer-obliterator 1							80.0	87.0	85.0					20																	61512959		2203	4298	6501	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512959G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4349C>T	20.37:g.61512959G>A	ENSP00000266070:p.Ala1450Val	True	False		Somatic	0				DIDO1_ENST00000395343.1_Missense_Mutation_p.A1450V	p.A1450V	NM_033081.2	NP_149072.2	WXS	Illumina HiSeq	Phase_I	Q9BTC0	DIDO1_HUMAN			16	4674	-	Breast(26;5.68e-08)		1450					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4349C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200577	0.38905	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08984	3.03;3.03	5.43	2.4	0.29515	.	0.597682	0.13711	N	0.368135	T	0.07818	0.0196	L	0.33485	1.01	0.18873	N	0.999986	B	0.12630	0.006	B	0.15052	0.012	T	0.27606	-1.0069	10	0.54805	T	0.06	-3.6696	10.9846	0.47514	0.2062:0.0:0.7938:0.0	.	1450	Q9BTC0	DIDO1_HUMAN	V	1450	ENSP00000266070:A1450V;ENSP00000378752:A1450V	ENSP00000266070:A1450V	A	-	2	0	DIDO1	60983404	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.819000	0.27308	0.671000	0.31185	0.655000	0.94253	GCC		0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	0	NM_080796		20:61512959
KIAA1462	57608	broad.mit.edu	37	10	30336573	30336573	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:30336573G>A	ENST00000375377.1	-	2	270	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	57					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GACGTCTTACGATGTGCGAGG	0.662																																						ENST00000375377.1		NA																	0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(169-171)Cgt>Tgt		KIAA1462							46.0	51.0	50.0					10																	30336573		2026	4175	6201	SO:0001583	missense	57608							g.chr10:30336573G>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.169C>T	10.37:g.30336573G>A	ENSP00000364526:p.Arg57Cys	False	False		Somatic	0					p.R57C	NM_020848.2	NP_065899.1	WXS	Illumina HiSeq	Phase_I	Q9P266	K1462_HUMAN			2	270	-			57					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.169C>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551265	0.45383	.	.	ENSG00000165757	ENST00000375377	T	0.12569	2.67	5.06	1.48	0.22813	.	0.673294	0.14424	N	0.320462	T	0.08088	0.0202	N	0.14661	0.345	0.09310	N	1	D	0.56521	0.976	P	0.44696	0.458	T	0.22626	-1.0211	10	0.56958	D	0.05	-6.0436	4.5512	0.12114	0.0:0.1942:0.1909:0.6149	.	57	Q9P266	K1462_HUMAN	C	57	ENSP00000364526:R57C	ENSP00000364526:R57C	R	-	1	0	KIAA1462	30376579	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.567000	0.23608	0.069000	0.16605	0.467000	0.42956	CGT		0.662	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	0	NM_020848		10:30336573
TIAF1	9220	broad.mit.edu	37	17	27401145	27401145	+	Missense_Mutation	SNP	G	G	A	rs151013388		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:27401145G>A	ENST00000359450.6	-	1	4730	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000527372.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.R25W|MYO18A_ENST00000531253.1_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	25					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACCTGGACCCGGCTCTCCTCA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		16598	0.001		0.0	False		,,,				2504	0.0					ENST00000359450.6		NA																	0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(73-75)Cgg>Tgg		TGFB1-induced anti-apoptotic factor 1		G	,,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	56.0	56.0		,,73	-10.5	0.0	17	dbSNP_134	56	0,8600		0,0,4300	no	utr-3,utr-3,missense	TIAF1,MYO18A	NM_078471.3,NM_203318.1,NM_004740.3	,,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,benign	,,25/116	27401145	1,13005	2203	4300	6503	SO:0001583	missense	9220				anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus		g.chr17:27401145G>A	AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.73C>T	17.37:g.27401145G>A	ENSP00000352424:p.Arg25Trp	True	False		Somatic	0				TIAF1_ENST00000408971.2_Missense_Mutation_p.R25W|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000354329.4_3'UTR	p.R25W	NM_004740.3	NP_004731.2	WXS	Illumina HiSeq	Phase_I	O95411	TIAF1_HUMAN	Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		1	4730	-	Lung NSC(42;0.015)		25					A2RRE2|Q6PEG2	Missense_Mutation	SNP	ENST00000359450.6	37	c.73C>T	CCDS32599.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014265	0.07959	2.27E-4	0.0	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	5.99	-10.5	0.00291	.	.	.	.	.	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42068	-0.9473	8	0.87932	D	0	.	9.1113	0.36730	0.3327:0.2671:0.4002:0.0	.	25	O95411	TIAF1_HUMAN	W	25	.	ENSP00000386130:R25W	R	-	1	2	TIAF1	24425271	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-0.869000	0.04232	-1.616000	0.01572	-1.595000	0.00837	CGG		0.592	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2	0	NM_004740		17:27401145
OR5J2	282775	broad.mit.edu	37	11	55944377	55944377	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:55944377C>G	ENST00000312298.1	+	1	284	c.284C>G	c.(283-285)tCt>tGt	p.S95C		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATTTCTTTCTCTGCTTGCATG	0.458																																						ENST00000312298.1		NA																	0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(283-285)tCt>tGt		olfactory receptor, family 5, subfamily J, member 2							169.0	138.0	148.0					11																	55944377		2201	4295	6496	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944377C>G	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.284C>G	11.37:g.55944377C>G	ENSP00000310788:p.Ser95Cys	True	False		Somatic	0					p.S95C	NM_001005492.1	NP_001005492.1	WXS	Illumina HiSeq	Phase_I	Q8NH18	OR5J2_HUMAN			1	284	+	Esophageal squamous(21;0.00693)		95					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.284C>G	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311684	0.40895	.	.	ENSG00000174957	ENST00000312298	T	0.00408	7.54	4.67	-0.729	0.11158	GPCR, rhodopsin-like superfamily (1);	0.831860	0.10480	N	0.669723	T	0.00496	0.0016	L	0.46670	1.46	0.09310	N	1	D	0.67145	0.996	P	0.55785	0.784	T	0.53746	-0.8395	10	0.38643	T	0.18	.	6.1701	0.20412	0.1189:0.5225:0.0:0.3586	.	95	Q8NH18	OR5J2_HUMAN	C	95	ENSP00000310788:S95C	ENSP00000310788:S95C	S	+	2	0	OR5J2	55700953	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.352000	0.07701	-0.056000	0.13221	0.584000	0.79450	TCT		0.458	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	0	NM_001005492		11:55944377
RBM12	10137	broad.mit.edu	37	20	34240896	34240896	+	Silent	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:34240896C>T	ENST00000374114.3	-	3	2612	c.2349G>A	c.(2347-2349)tcG>tcA	p.S783S	CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Silent_p.S783S|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Silent_p.S783S|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	783	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTCCAAATCCCGATGGCCCAC	0.562																																						ENST00000374114.3		NA																	0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2347-2349)tcG>tcA		RNA binding motif protein 12							39.0	43.0	42.0					20																	34240896		2198	4293	6491	SO:0001819	synonymous_variant	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34240896C>T	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2349G>A	20.37:g.34240896C>T		True	False		Somatic	0				CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Silent_p.S783S|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Silent_p.S783S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron	p.S783S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	WXS	Illumina HiSeq	Phase_I	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2612	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		783			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.2349G>A	CCDS13261.1																																																																																				0.562	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	0	NM_006047		20:34240896
USP35	57558	broad.mit.edu	37	11	77907359	77907359	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:77907359G>A	ENST00000529308.1	+	2	329	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	USP35_ENST00000526425.1_5'Flank|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron|USP35_ENST00000441408.2_5'Flank	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	23					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGGCTGGTTCGGCGCGTGCTG	0.716																																						ENST00000529308.1		NA																	0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(67-69)cGg>cAg		ubiquitin specific peptidase 35							30.0	36.0	34.0					11																	77907359		2186	4275	6461	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77907359G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.68G>A	11.37:g.77907359G>A	ENSP00000431876:p.Arg23Gln	False	False		Somatic	0				USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron	p.R23Q	NM_020798.2	NP_065849.1	WXS	Illumina HiSeq	Phase_I	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		2	329	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		23						Missense_Mutation	SNP	ENST00000529308.1	37	c.68G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652237	0.47362	.	.	ENSG00000118369	ENST00000529308	T	0.05649	3.41	4.31	3.38	0.38709	.	0.000000	0.41823	D	0.000817	T	0.04588	0.0125	L	0.29908	0.895	0.80722	D	1	P	0.35155	0.487	B	0.22152	0.038	T	0.50583	-0.8811	10	0.27785	T	0.31	-28.6736	13.2753	0.60184	0.0:0.0:0.8307:0.1693	.	23	Q9P2H5	UBP35_HUMAN	Q	23	ENSP00000431876:R23Q	ENSP00000431876:R23Q	R	+	2	0	USP35	77585007	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	6.220000	0.72237	0.989000	0.38761	0.313000	0.20887	CGG		0.716	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	0	XM_290527		11:77907359
SH2D3C	10044	broad.mit.edu	37	9	130511512	130511512	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:130511512G>A	ENST00000314830.8	-	5	1230	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	SH2D3C_ENST00000429553.1_Missense_Mutation_p.R19C|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R216C|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R213C|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R305C|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R215C	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	373					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.R373S(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCATCGCTGCGGGTGACCTTG	0.617																																						ENST00000314830.8		NA																	2	Substitution - Missense(2)	p.R373S(2)	lung(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1117-1119)Cgc>Tgc		SH2 domain containing 3C							55.0	56.0	56.0					9																	130511512		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511512G>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1117C>T	9.37:g.130511512G>A	ENSP00000317817:p.Arg373Cys	True	False		Somatic	0				SH2D3C_ENST00000420366.1_Missense_Mutation_p.R215C|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R216C|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R213C|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R19C|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R305C	p.R373C	NM_170600.2	NP_733745.1	WXS	Illumina HiSeq	Phase_I	Q8N5H7	SH2D3_HUMAN			5	1230	-			373					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1117C>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986440	0.35036	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830;ENST00000414380	T;T;T;T;T;T;T	0.38722	2.55;2.56;2.3;2.56;1.68;2.51;1.12	5.37	3.42	0.39159	.	0.469026	0.24884	N	0.034822	T	0.33469	0.0864	L	0.51422	1.61	0.47123	D	0.999322	B;B;B;B;B	0.21821	0.007;0.061;0.033;0.007;0.005	B;B;B;B;B	0.14578	0.003;0.011;0.005;0.007;0.004	T	0.15867	-1.0422	10	0.38643	T	0.18	-28.0923	7.986	0.30212	0.0869:0.0:0.6601:0.253	.	213;373;305;216;215	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	C	216;215;305;213;19;373;190	ENSP00000362374:R216C;ENSP00000388536:R215C;ENSP00000362373:R305C;ENSP00000362371:R213C;ENSP00000394632:R19C;ENSP00000317817:R373C;ENSP00000413760:R190C	ENSP00000317817:R373C	R	-	1	0	SH2D3C	129551333	1.000000	0.71417	0.993000	0.49108	0.615000	0.37417	2.677000	0.46892	1.413000	0.46997	0.561000	0.74099	CGC		0.617	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	0	NM_005489		9:130511512
KIF26A	26153	broad.mit.edu	37	14	104618363	104618363	+	Silent	SNP	C	C	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:104618363C>A	ENST00000423312.2	+	3	300	c.300C>A	c.(298-300)ctC>ctA	p.L100L	KIF26A_ENST00000315264.7_5'UTR	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	100					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ATCCTTGCCTCTCTGCCCTGC	0.672																																						ENST00000423312.2		NA																	0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(298-300)ctC>ctA		kinesin family member 26A							23.0	27.0	26.0					14																	104618363		2109	4140	6249	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104618363C>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.300C>A	14.37:g.104618363C>A		True	False		Somatic	0				KIF26A_ENST00000315264.7_5'UTR	p.L100L	NM_015656.1	NP_056471.1	WXS	Illumina HiSeq	Phase_I	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	3	300	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	100					Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.300C>A	CCDS45171.1																																																																																				0.672	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1	0			14:104618363
DLGAP1	9229	broad.mit.edu	37	18	3879329	3879329	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr18:3879329G>A	ENST00000315677.3	-	4	1335	c.740C>T	c.(739-741)gCg>gTg	p.A247V	DLGAP1_ENST00000581527.1_Missense_Mutation_p.A247V|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A247V|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A247V|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	247					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGCCTTCACCGCCTGCTCGCT	0.657																																						ENST00000315677.3		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(739-741)gCg>gTg		discs, large (Drosophila) homolog-associated protein 1							62.0	62.0	62.0					18																	3879329		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879329G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.740C>T	18.37:g.3879329G>A	ENSP00000316377:p.Ala247Val	False	False		Somatic	0				DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A247V|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A247V|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A247V	p.A247V	NM_004746.3	NP_004737.2	WXS	Illumina HiSeq	Phase_I	O14490	DLGP1_HUMAN			4	1335	-		Colorectal(8;0.0257)	247					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.740C>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688161	0.68271	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.16597	2.33;2.33	5.51	5.51	0.81932	.	0.118257	0.64402	D	0.000017	T	0.16642	0.0400	L	0.40543	1.245	0.53688	D	0.999975	B;P;B	0.40931	0.384;0.733;0.181	B;B;B	0.33339	0.038;0.162;0.069	T	0.01993	-1.1233	10	0.62326	D	0.03	-12.462	19.4162	0.94700	0.0:0.0:1.0:0.0	.	247;247;247	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	V	247	ENSP00000316377:A247V;ENSP00000445973:A247V	ENSP00000316377:A247V	A	-	2	0	DLGAP1	3869329	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.431000	0.80335	2.605000	0.88082	0.655000	0.94253	GCG		0.657	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4	0			18:3879329
GM2A	2760	broad.mit.edu	37	5	150639359	150639359	+	Missense_Mutation	SNP	G	G	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:150639359G>C	ENST00000357164.3	+	2	450	c.125G>C	c.(124-126)gGg>gCg	p.G42A		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	42					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGATGAAGGGAAGGACCCT	0.527																																						ENST00000357164.3		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8						c.(124-126)gGg>gCg		GM2 ganglioside activator							70.0	62.0	65.0					5																	150639359		2203	4300	6503	SO:0001583	missense	2760					lysosome|nucleolus	sphingolipid activator protein activity	g.chr5:150639359G>C		CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"""cerebroside sulfate activator protein"", ""sphingolipid activator protein 3"""	613109	"""GM2 ganglioside activator protein"""			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.125G>C	5.37:g.150639359G>C	ENSP00000349687:p.Gly42Ala	True	False		Somatic	0					p.G42A	NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	WXS	Illumina HiSeq	Phase_I	P17900	SAP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	450	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	42					B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Missense_Mutation	SNP	ENST00000357164.3	37	c.125G>C	CCDS4313.1	.	.	.	.	.	.	.	.	.	.	G	2.987	-0.209025	0.06140	.	.	ENSG00000196743	ENST00000523466;ENST00000357164	T;T	0.71579	-0.58;-0.58	4.96	2.14	0.27477	MD-2-related lipid-recognition (1);	0.306608	0.35772	N	0.002992	T	0.57417	0.2052	L	0.47716	1.5	0.09310	N	1	P;P	0.46142	0.797;0.873	B;B	0.39027	0.117;0.288	T	0.48570	-0.9024	10	0.29301	T	0.29	-7.8707	8.4518	0.32875	0.0857:0.4541:0.4602:0.0	.	42;42	B4DQM5;P17900	.;SAP3_HUMAN	A	57;42	ENSP00000429100:G57A;ENSP00000349687:G42A	ENSP00000349687:G42A	G	+	2	0	GM2A	150619552	0.006000	0.16342	0.021000	0.16686	0.165000	0.22458	0.193000	0.17116	0.140000	0.18849	-0.136000	0.14681	GGG		0.527	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1	0	NM_000405		5:150639359
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	rs193920774		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:7577141C>T	ENST00000269305.4	-	8	986	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGTTCCGTCCCAGTAGATT	0.517		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"""		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(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.(796-798)gGa>gAa	Other conserved DNA damage response genes	tumor protein p53							50.0	44.0	46.0					17																	7577141		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.chr17:7577141C>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.797G>A	17.37:g.7577141C>T	ENSP00000269305:p.Gly266Glu	True	False	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)	Somatic	0				TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E	p.G266E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	929	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614795	0.87359	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.998	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	266;266;266;266;266;255;134	ENSP00000352610:G266E;ENSP00000269305:G266E;ENSP00000398846:G266E;ENSP00000391127:G266E;ENSP00000391478:G266E;ENSP00000425104:G134E	ENSP00000269305:G266E	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577141
TPD52L1	7164	broad.mit.edu	37	6	125541274	125541274	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:125541274A>T	ENST00000534000.1	+	2	366	c.70A>T	c.(70-72)Agt>Tgt	p.S24C	TPD52L1_ENST00000532429.1_5'UTR|TPD52L1_ENST00000524679.1_5'UTR|TPD52L1_ENST00000528193.1_Missense_Mutation_p.S24C|TPD52L1_ENST00000392482.2_5'UTR|HDDC2_ENST00000608456.1_5'UTR|TPD52L1_ENST00000527711.1_Missense_Mutation_p.S24C|TPD52L1_ENST00000304877.13_Missense_Mutation_p.S24C|TPD52L1_ENST00000534199.1_5'UTR|TPD52L1_ENST00000368388.2_Missense_Mutation_p.S24C|TPD52L1_ENST00000368402.5_Missense_Mutation_p.S24C	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	24					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		TGCAGTAGCCAGTGCTGACTT	0.378																																						ENST00000534000.1		NA																	0				endometrium(2)|large_intestine(2)|prostate(1)	5						c.(70-72)Agt>Tgt		tumor protein D52-like 1							140.0	136.0	138.0					6																	125541274		2203	4300	6503	SO:0001583	missense	0				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125541274A>T	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.70A>T	6.37:g.125541274A>T	ENSP00000434142:p.Ser24Cys	False	False		Somatic	0				TPD52L1_ENST00000392482.2_5'UTR|TPD52L1_ENST00000368388.2_Missense_Mutation_p.S24C|TPD52L1_ENST00000304877.13_Missense_Mutation_p.S24C|TPD52L1_ENST00000534199.1_5'UTR|TPD52L1_ENST00000532429.1_5'UTR|TPD52L1_ENST00000368402.5_Missense_Mutation_p.S24C|HDDC2_ENST00000608456.1_5'UTR|TPD52L1_ENST00000528193.1_Missense_Mutation_p.S24C|TPD52L1_ENST00000524679.1_5'UTR|TPD52L1_ENST00000527711.1_Missense_Mutation_p.S24C	p.S24C	NM_003287.2	NP_003278.1	WXS	Illumina HiSeq	Phase_I	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	2	366	+			24					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	ENST00000534000.1	37	c.70A>T	CCDS5130.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258538	0.59321	.	.	ENSG00000111907	ENST00000304877;ENST00000534000;ENST00000368402;ENST00000368388;ENST00000527711;ENST00000528193;ENST00000392484	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	5.26	-0.253	0.12996	.	0.282976	0.43919	D	0.000514	T	0.12263	0.0298	L	0.38175	1.15	0.38267	D	0.942041	P;P;P	0.51537	0.844;0.844;0.946	B;B;P	0.50590	0.416;0.416;0.645	T	0.06058	-1.0848	10	0.56958	D	0.05	-0.967	5.6478	0.17598	0.4559:0.1515:0.3926:0.0	.	24;24;24	Q16890-3;Q16890-2;Q16890	.;.;TPD53_HUMAN	C	24	ENSP00000306285:S24C;ENSP00000434142:S24C;ENSP00000357387:S24C;ENSP00000357373:S24C;ENSP00000436953:S24C;ENSP00000434743:S24C	ENSP00000306285:S24C	S	+	1	0	TPD52L1	125582973	0.999000	0.42202	0.993000	0.49108	0.840000	0.47671	1.953000	0.40352	0.087000	0.17167	-0.250000	0.11733	AGT		0.378	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2	0			6:125541274
DPPA3P2	400206	broad.mit.edu	37	14	36840911	36840911	+	RNA	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr14:36840911G>T	ENST00000557188.1	+	0	542									developmental pluripotency associated 3 pseudogene 2																		AAGATGGCAAGATTGAGATAC	0.468																																						ENST00000557188.1		NA																	0					NA																																														0							g.chr14:36840911G>T			14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36840911G>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	542	+			NA						RNA	SNP	ENST00000557188.1	37																																																																																						0.468	DPPA3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000410122.1	0			14:36840911
PGC	5225	broad.mit.edu	37	6	41704646	41704646	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:41704646A>G	ENST00000373025.3	-	9	1173	c.1111T>C	c.(1111-1113)Tac>Cac	p.Y371H	TFEB_ENST00000373033.1_5'Flank|TFEB_ENST00000358871.2_5'Flank|TFEB_ENST00000230323.4_5'Flank|TFEB_ENST00000420312.1_5'Flank|RP11-298J23.5_ENST00000438967.1_RNA|TFEB_ENST00000403298.4_5'Flank	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	371					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACGGAATAGTAGGACCTGAGG	0.602																																						ENST00000373025.3		NA																	0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16						c.(1111-1113)Tac>Cac		progastricsin (pepsinogen C)							117.0	98.0	105.0					6																	41704646		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41704646A>G		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.1111T>C	6.37:g.41704646A>G	ENSP00000362116:p.Tyr371His	False	False		Somatic	0					p.Y371H	NM_002630.3	NP_002621.1	WXS	Illumina HiSeq	Phase_I	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		9	1173	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		371					B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.1111T>C	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.663054	0.47572	.	.	ENSG00000096088	ENST00000373025	T	0.34275	1.37	4.82	4.82	0.62117	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.64402	D	0.000001	T	0.64136	0.2571	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76091	-0.3086	10	0.87932	D	0	.	14.2156	0.65790	1.0:0.0:0.0:0.0	.	371	P20142	PEPC_HUMAN	H	371	ENSP00000362116:Y371H	ENSP00000362116:Y371H	Y	-	1	0	PGC	41812624	1.000000	0.71417	0.967000	0.41034	0.048000	0.14542	6.504000	0.73704	2.013000	0.59113	0.459000	0.35465	TAC		0.602	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2	0			6:41704646
PDE2A	5138	broad.mit.edu	37	11	72295749	72295749	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:72295749G>A	ENST00000334456.5	-	18	1628	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Silent_p.A346A|PDE2A_ENST00000376450.3_Silent_p.A205A|PDE2A_ENST00000540345.1_Silent_p.A452A|PDE2A_ENST00000444035.2_Silent_p.A452A|PDE2A_ENST00000544570.1_Silent_p.A454A	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	461	GAF 2.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TGCCCTGATCGGCCGGGATGC	0.622																																						ENST00000334456.5		NA																	0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1381-1383)gcC>gcT		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						46.0	49.0	48.0					11																	72295749		2200	4292	6492	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72295749G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1383C>T	11.37:g.72295749G>A		False	False		Somatic	0				PDE2A_ENST00000540345.1_Silent_p.A452A|PDE2A_ENST00000544570.1_Silent_p.A454A|PDE2A_ENST00000376450.3_Silent_p.A205A|PDE2A_ENST00000418754.2_Silent_p.A346A|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Silent_p.A452A	p.A461A	NM_002599.4	NP_002590.1	WXS	Illumina HiSeq	Phase_I	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		18	1628	-			461			GAF 2.		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.1383C>T	CCDS8216.1																																																																																				0.622	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	0	NM_002599		11:72295749
ABCA12	26154	broad.mit.edu	37	2	215865634	215865634	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:215865634C>T	ENST00000272895.7	-	22	3193	c.2974G>A	c.(2974-2976)Gca>Aca	p.A992T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A674T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	992					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTGGTCTGTGCGGTCTTGAGA	0.448																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7		NA																	0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2974-2976)Gca>Aca		ATP-binding cassette, sub-family A (ABC1), member 12							141.0	148.0	146.0					2																	215865634		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215865634C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2974G>A	2.37:g.215865634C>T	ENSP00000272895:p.Ala992Thr	False	False		Somatic	0				ABCA12_ENST00000389661.4_Missense_Mutation_p.A674T	p.A992T	NM_173076.2	NP_775099.2	WXS	Illumina HiSeq	Phase_I	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	22	3193	-		Renal(323;0.127)	992					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2974G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	2.864	-0.235436	0.05983	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95788	-3.81;-3.81	5.73	0.518	0.17030	.	0.350884	0.28021	N	0.016901	D	0.85691	0.5755	N	0.08118	0	0.58432	D	0.999999	B;B	0.20261	0.043;0.011	B;B	0.19148	0.021;0.024	T	0.74390	-0.3681	10	0.02654	T	1	.	12.6441	0.56725	0.7354:0.2003:0.0:0.0643	.	992;674	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	992;674	ENSP00000272895:A992T;ENSP00000374312:A674T	ENSP00000272895:A992T	A	-	1	0	ABCA12	215573879	0.004000	0.15560	0.053000	0.19242	0.987000	0.75469	0.078000	0.14761	-0.199000	0.10317	0.555000	0.69702	GCA		0.448	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	0	NM_173076		2:215865634
MYO15A	51168	broad.mit.edu	37	17	18043920	18043920	+	Silent	SNP	G	G	A	rs371647200		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:18043920G>A	ENST00000205890.5	+	20	5639	c.5301G>A	c.(5299-5301)gcG>gcA	p.A1767A	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1767	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCTACAAGGCGCACACTGTGG	0.662											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		17663	0.001		0.0	False		,,,				2504	0.0					ENST00000205890.5		NA																	0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(5299-5301)gcG>gcA		myosin XVA		G		1,3991		0,1,1995	66.0	77.0	73.0		5301	-8.4	0.3	17		73	1,8327		0,1,4163	no	coding-synonymous	MYO15A	NM_016239.3		0,2,6158	AA,AG,GG		0.012,0.0251,0.0162		1767/3531	18043920	2,12318	1996	4164	6160	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18043920G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5301G>A	17.37:g.18043920G>A		False	False		Somatic	0	OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	722	MYO15A_ENST00000412324.1_3'UTR	p.A1767A	NM_016239.3	NP_057323.3	WXS	Illumina HiSeq	Phase_I	Q9UKN7	MYO15_HUMAN			20	5639	+	all_neural(463;0.228)		1767			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.5301G>A	CCDS42271.1																																																																																				0.662	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	0	NM_016239		17:18043920
CAND1	55832	broad.mit.edu	37	12	67691335	67691335	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:67691335C>T	ENST00000545606.1	+	5	1077	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	214					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTTGTAGATCTTATTGAACA	0.403																																						ENST00000545606.1		NA																	0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(640-642)Ctt>Ttt		cullin-associated and neddylation-dissociated 1							127.0	124.0	125.0					12																	67691335		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67691335C>T		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.640C>T	12.37:g.67691335C>T	ENSP00000442318:p.Leu214Phe	False	False		Somatic	0					p.L214F	NM_018448.3	NP_060918.2	WXS	Illumina HiSeq	Phase_I	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	5	1077	+			214					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.640C>T	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963385	0.92791	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.67865	-0.29	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79575	0.4469	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76940	-0.2773	9	.	.	.	-12.9708	19.6379	0.95744	0.0:1.0:0.0:0.0	.	214	Q86VP6	CAND1_HUMAN	F	214;214;56	ENSP00000442318:L214F	.	L	+	1	0	CAND1	65977602	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.657000	0.90304	0.655000	0.94253	CTT		0.403	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	0	NM_018448		12:67691335
TMPRSS6	164656	broad.mit.edu	37	22	37471275	37471275	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:37471275G>A	ENST00000346753.3	-	11	1385	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	TMPRSS6_ENST00000381792.2_Silent_p.P414P|TMPRSS6_ENST00000406856.1_Silent_p.P414P|TMPRSS6_ENST00000406725.1_Silent_p.P414P	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	423	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGGCCACCACGGGGATCCTCT	0.657																																						ENST00000381792.2		NA																	0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1240-1242)ccC>ccT		transmembrane protease, serine 6							54.0	57.0	56.0					22																	37471275		2203	4300	6503	SO:0001819	synonymous_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37471275G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1269C>T	22.37:g.37471275G>A		True	False		Somatic	0				TMPRSS6_ENST00000406725.1_Silent_p.P414P|TMPRSS6_ENST00000406856.1_Silent_p.P414P|TMPRSS6_ENST00000346753.3_Silent_p.P423P	p.P414P			WXS	Illumina HiSeq	Phase_I	Q8IU80	TMPS6_HUMAN			11	1382	-			423			CUB 2.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	c.1242C>T	CCDS13941.1																																																																																				0.657	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	0	NM_153609		22:37471275
GLB1L	79411	broad.mit.edu	37	2	220101856	220101856	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:220101856T>C	ENST00000295759.7	-	17	2216	c.1903A>G	c.(1903-1905)Atc>Gtc	p.I635V	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Missense_Mutation_p.I635V|GLB1L_ENST00000409640.1_Missense_Mutation_p.I545V|GLB1L_ENST00000356283.3_Missense_Mutation_p.I545V			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	635					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGAATTGATATGTGTCCTG	0.468																																						ENST00000295759.7		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1903-1905)Atc>Gtc		galactosidase, beta 1-like							163.0	148.0	153.0					2																	220101856		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220101856T>C		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1903A>G	2.37:g.220101856T>C	ENSP00000295759:p.Ile635Val	False	False		Somatic	0				GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Missense_Mutation_p.I635V|GLB1L_ENST00000356283.3_Missense_Mutation_p.I545V|GLB1L_ENST00000409640.1_Missense_Mutation_p.I545V	p.I635V			WXS	Illumina HiSeq	Phase_I	Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2216	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	635					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.1903A>G	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	T	4.871	0.161916	0.09287	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.96992	-4.2;-3.93;-4.2;-3.93	4.93	-9.86	0.00473	Galactose-binding domain-like (1);	3.089320	0.00575	N	0.000313	D	0.86112	0.5855	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.81204	-0.1039	10	0.21540	T	0.41	0.3857	2.6931	0.05126	0.1812:0.3995:0.1959:0.2234	.	545;635	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	V	635;545;635;545	ENSP00000295759:I635V;ENSP00000386354:I545V;ENSP00000375939:I635V;ENSP00000348628:I545V	ENSP00000295759:I635V	I	-	1	0	GLB1L	219810100	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.053000	0.03500	-2.213000	0.00735	-0.256000	0.11100	ATC		0.468	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	0	NM_024506		2:220101856
PRSS36	146547	broad.mit.edu	37	16	31152793	31152793	+	Missense_Mutation	SNP	A	A	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr16:31152793A>G	ENST00000268281.4	-	12	1956	c.1898T>C	c.(1897-1899)cTc>cCc	p.L633P	PRSS36_ENST00000418068.2_Missense_Mutation_p.L633P|PRSS36_ENST00000569305.1_Missense_Mutation_p.L628P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	633	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GACCCACCTGAGGACACAGTG	0.547																																						ENST00000268281.4		NA																	0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(1897-1899)cTc>cCc		protease, serine, 36							62.0	71.0	68.0					16																	31152793		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31152793A>G	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1898T>C	16.37:g.31152793A>G	ENSP00000268281:p.Leu633Pro	False	False		Somatic	0				PRSS36_ENST00000569305.1_Missense_Mutation_p.L628P|PRSS36_ENST00000418068.2_Missense_Mutation_p.L633P	p.L633P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	WXS	Illumina HiSeq	Phase_I	Q5K4E3	POLS2_HUMAN			12	1956	-			633			Peptidase S1 3.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.1898T>C	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.225929	0.58668	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.88818	-2.43;-1.57	5.29	3.99	0.46301	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.85435	0.5696	N	0.05554	-0.025	0.53005	D	0.999966	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.985;0.985	T	0.82182	-0.0584	9	0.27785	T	0.31	.	7.6216	0.28189	0.8891:0.0:0.1109:0.0	.	633;628;633	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	P	633	ENSP00000268281:L633P;ENSP00000407160:L633P	ENSP00000268281:L633P	L	-	2	0	PRSS36	31060294	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.959000	0.49153	1.996000	0.58369	0.374000	0.22700	CTC		0.547	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	0	NM_173502		16:31152793
CSMD1	64478	broad.mit.edu	37	8	3216706	3216706	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:3216706C>T	ENST00000520002.1	-	22	3830	c.3275G>A	c.(3274-3276)cGt>cAt	p.R1092H	CSMD1_ENST00000539096.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1092H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1091H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1092	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCCACACACGGCGGCCCCC	0.562																																						ENST00000602557.1		NA																	0				breast(20)|large_intestine(5)	25						c.(3274-3276)cGt>cAt		CUB and Sushi multiple domains 1							70.0	74.0	72.0					8																	3216706		2203	4300	6503	SO:0001583	missense	64478					integral to membrane		g.chr8:3216706C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3275G>A	8.37:g.3216706C>T	ENSP00000430733:p.Arg1092His	True	False		Somatic	0				CSMD1_ENST00000542608.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1092H	p.R1092H			WXS	Illumina HiSeq	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	22	3830	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1092			Sushi 6.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3275G>A		.	.	.	.	.	.	.	.	.	.	c	36	5.695321	0.96793	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.34	5.34	0.76211	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.84483	0.5482	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.994	D;D;P	0.85130	0.997;0.957;0.837	D	0.87265	0.2282	10	0.52906	T	0.07	.	19.067	0.93116	0.0:1.0:0.0:0.0	.	1092;1092;1092	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	H	1092;1092;954;1091;1091;1091	ENSP00000383047:R1092H;ENSP00000430733:R1092H;ENSP00000441462:R1091H;ENSP00000446243:R1091H;ENSP00000441675:R1091H	ENSP00000320445:R954H	R	-	2	0	CSMD1	3204113	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.762000	0.62250	2.489000	0.83994	0.550000	0.68814	CGT		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	0	NM_033225		8:3216706
APOB	338	broad.mit.edu	37	2	21231133	21231133	+	Silent	SNP	A	A	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:21231133A>G	ENST00000233242.1	-	26	8734	c.8607T>C	c.(8605-8607)ctT>ctC	p.L2869L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2869					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCATTACTAAGCTCCAGTG	0.393																																						ENST00000233242.1		NA																	0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8605-8607)ctT>ctC		apolipoprotein B	Atorvastatin(DB01076)						163.0	164.0	163.0					2																	21231133		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231133A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8607T>C	2.37:g.21231133A>G		False	False		Somatic	0					p.L2869L	NM_000384.2	NP_000375	WXS	Illumina HiSeq	Phase_I	P04114	APOB_HUMAN			26	8734	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2869					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.8607T>C	CCDS1703.1																																																																																				0.393	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	0			2:21231133
HECTD4	283450	broad.mit.edu	37	12	112642347	112642347	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:112642347T>G	ENST00000430131.2	-	52	8091	c.6946A>C	c.(6946-6948)Acc>Ccc	p.T2316P	HECTD4_ENST00000377560.5_Missense_Mutation_p.T2566P|HECTD4_ENST00000550722.1_Missense_Mutation_p.T2592P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2316					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)										TCTTCAATGGTGGGAAGATAA	0.388																																						ENST00000550722.1		NA																	0					NA						c.(7774-7776)Acc>Ccc		HECT domain containing E3 ubiquitin protein ligase 4							89.0	88.0	88.0					12																	112642347		1872	4105	5977	SO:0001583	missense	283450							g.chr12:112642347T>G	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.6946A>C	12.37:g.112642347T>G	ENSP00000404379:p.Thr2316Pro	True	False		Somatic	0				HECTD4_ENST00000430131.2_Missense_Mutation_p.T2316P|HECTD4_ENST00000377560.5_Missense_Mutation_p.T2566P	p.T2592P	NM_001109662.3	NP_001103132.3	WXS	Illumina HiSeq	Phase_I					53	8169	-			NA					L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.7774A>C		.	.	.	.	.	.	.	.	.	.	T	29.9	5.047688	0.93740	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.24350	1.86;1.86;1.86	6.17	6.17	0.99709	.	.	.	.	.	T	0.40171	0.1106	L	0.27053	0.805	0.58432	D	0.999999	D	0.65815	0.995	D	0.72982	0.979	T	0.28106	-1.0054	9	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	2316	Q9Y4D8	K0614_HUMAN	P	2566;2316;2592	ENSP00000366783:T2566P;ENSP00000404379:T2316P;ENSP00000449784:T2592P	ENSP00000366783:T2566P	T	-	1	0	C12orf51	111126730	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.465000	0.80898	2.371000	0.80710	0.533000	0.62120	ACC		0.388	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		0	NM_173813		12:112642347
CEP135	9662	broad.mit.edu	37	4	56877620	56877620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:56877620G>T	ENST00000257287.4	+	20	2672	c.2548G>T	c.(2548-2550)Gaa>Taa	p.E850*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	850					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAAAGAAGAAATGAAGAG	0.333																																						ENST00000257287.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(2548-2550)Gaa>Taa		centrosomal protein 135kDa							91.0	93.0	93.0					4																	56877620		2203	4300	6503	SO:0001587	stop_gained	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56877620G>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2548G>T	4.37:g.56877620G>T	ENSP00000257287:p.Glu850*	True	False		Somatic	0					p.E850*	NM_025009.4	NP_079285.2	WXS	Illumina HiSeq	Phase_I	Q66GS9	CP135_HUMAN			20	2672	+	Glioma(25;0.08)|all_neural(26;0.101)		850					B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	ENST00000257287.4	37	c.2548G>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	41	8.869519	0.98984	.	.	ENSG00000174799	ENST00000257287	.	.	.	5.11	5.11	0.69529	.	0.046328	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	18.5341	0.91002	0.0:0.0:1.0:0.0	.	.	.	.	X	850	.	ENSP00000257287:E850X	E	+	1	0	CEP135	56572377	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.811000	0.86092	2.373000	0.80994	0.591000	0.81541	GAA		0.333	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	0	NM_025009		4:56877620
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
PRDM4	11108	broad.mit.edu	37	12	108138409	108138409	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:108138409G>A	ENST00000228437.5	-	7	1765	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	436	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AAGCAAGTCCGCACAGGAATG	0.463																																						ENST00000228437.5		NA																	0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(1306-1308)Cgg>Tgg		PR domain containing 4							155.0	134.0	141.0					12																	108138409		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108138409G>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1306C>T	12.37:g.108138409G>A	ENSP00000228437:p.Arg436Trp	False	False		Somatic	0				RP11-864J10.4_ENST00000546714.1_RNA	p.R436W	NM_012406.3	NP_036538.3	WXS	Illumina HiSeq	Phase_I	Q9UKN5	PRDM4_HUMAN			7	1765	-			436			SET.		Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.1306C>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108122	0.77096	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	T;T	0.41758	0.99;0.99	5.88	4.98	0.66077	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.78049	2.395	0.53688	D	0.999977	D	0.62365	0.991	B	0.43331	0.416	T	0.50980	-0.8763	10	0.54805	T	0.06	-1.7026	8.8668	0.35291	0.0726:0.0:0.6819:0.2455	.	436	Q9UKN5	PRDM4_HUMAN	W	436;188	ENSP00000228437:R436W;ENSP00000449295:R188W	ENSP00000228437:R436W	R	-	1	2	PRDM4	106662539	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.390000	0.52523	1.481000	0.48307	0.655000	0.94253	CGG		0.463	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	0	NM_012406		12:108138409
GPR142	350383	broad.mit.edu	37	17	72363648	72363648	+	Missense_Mutation	SNP	A	A	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:72363648A>T	ENST00000335666.4	+	1	52	c.4A>T	c.(4-6)Agt>Tgt	p.S2C		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	2						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GTTAGCAATGAGTATTATGAT	0.527																																						ENST00000335666.4		NA																	0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(4-6)Agt>Tgt		G protein-coupled receptor 142							116.0	109.0	112.0					17																	72363648		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72363648A>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.4A>T	17.37:g.72363648A>T	ENSP00000335158:p.Ser2Cys	False	False		Somatic	0					p.S2C	NM_181790.1	NP_861455.1	WXS	Illumina HiSeq	Phase_I	Q7Z601	GP142_HUMAN			1	52	+			2					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.4A>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417868	0.25552	.	.	ENSG00000257008	ENST00000335666	T	0.71817	-0.6	2.61	1.45	0.22620	.	.	.	.	.	T	0.46776	0.1410	N	0.08118	0	0.27124	N	0.962078	P	0.51653	0.947	B	0.40741	0.339	T	0.42032	-0.9475	9	0.87932	D	0	.	6.1442	0.20276	0.773:0.0:0.0:0.227	.	2	Q7Z601	GP142_HUMAN	C	2	ENSP00000335158:S2C	ENSP00000335158:S2C	S	+	1	0	GPR142	69875243	1.000000	0.71417	0.001000	0.08648	0.000000	0.00434	4.243000	0.58721	0.062000	0.16340	-0.343000	0.07986	AGT		0.527	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	0	NM_181790		17:72363648
OGDH	4967	broad.mit.edu	37	7	44715672	44715672	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:44715672T>C	ENST00000222673.5	+	9	1172	c.1130T>C	c.(1129-1131)cTt>cCt	p.L377P	OGDH_ENST00000443864.2_Missense_Mutation_p.L377P|OGDH_ENST00000449767.1_Missense_Mutation_p.L373P|OGDH_ENST00000444676.1_Missense_Mutation_p.L392P|OGDH_ENST00000543843.1_Missense_Mutation_p.L328P|OGDH_ENST00000447398.1_Missense_Mutation_p.L388P|OGDH_ENST00000439616.2_Missense_Mutation_p.L227P	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	377					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CCTTCCCACCTTGAGGCCGCT	0.557																																						ENST00000222673.5		NA																	0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(1129-1131)cTt>cCt		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						133.0	115.0	121.0					7																	44715672		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44715672T>C	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1130T>C	7.37:g.44715672T>C	ENSP00000222673:p.Leu377Pro	False	False		Somatic	0				OGDH_ENST00000444676.1_Missense_Mutation_p.L392P|OGDH_ENST00000443864.2_Missense_Mutation_p.L377P|OGDH_ENST00000449767.1_Missense_Mutation_p.L373P|OGDH_ENST00000543843.1_Missense_Mutation_p.L328P|OGDH_ENST00000447398.1_Missense_Mutation_p.L388P|OGDH_ENST00000439616.2_Missense_Mutation_p.L227P	p.L377P	NM_002541.3	NP_002532.2	WXS	Illumina HiSeq	Phase_I	Q02218	ODO1_HUMAN			9	1172	+			377					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.1130T>C	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306757	0.81247	.	.	ENSG00000105953	ENST00000439616;ENST00000443864;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;T;D;D;D;D;D	0.95788	-3.81;2.0;-3.81;-3.81;-3.81;-3.81;-3.81	5.14	5.14	0.70334	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	H	0.98996	4.395	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99521	1.0958	10	0.87932	D	0	-27.6918	14.9242	0.70862	0.0:0.0:0.0:1.0	.	172;227;373;388;279;377;377	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218;Q96DD3	.;.;.;.;.;ODO1_HUMAN;.	P	227;377;373;388;392;377;328	ENSP00000398576:L227P;ENSP00000388084:L377P;ENSP00000392878:L373P;ENSP00000388183:L388P;ENSP00000414662:L392P;ENSP00000222673:L377P;ENSP00000443821:L328P	ENSP00000222673:L377P	L	+	2	0	OGDH	44682197	1.000000	0.71417	0.987000	0.45799	0.892000	0.51952	7.788000	0.85771	2.063000	0.61619	0.379000	0.24179	CTT		0.557	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1	0			7:44715672
STK32A	202374	broad.mit.edu	37	5	146750320	146750320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr5:146750320C>A	ENST00000397936.3	+	9	1097	c.764C>A	c.(763-765)tCa>tAa	p.S255*	STK32A_ENST00000398523.3_Nonsense_Mutation_p.S255*	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATGGTGTCACTTCTTAAA	0.418																																						ENST00000397936.3		NA																	0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(763-765)tCa>tAa		serine/threonine kinase 32A							152.0	131.0	138.0					5																	146750320		1568	3582	5150	SO:0001587	stop_gained	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146750320C>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.764C>A	5.37:g.146750320C>A	ENSP00000381030:p.Ser255*	False	False		Somatic	0				STK32A_ENST00000398523.3_Nonsense_Mutation_p.S255*	p.S255*	NM_001112724.1	NP_001106195.1	WXS	Illumina HiSeq	Phase_I	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1097	+			255			Protein kinase.		B3KSY0	Nonsense_Mutation	SNP	ENST00000397936.3	37	c.764C>A	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	C	38	6.721010	0.97788	.	.	ENSG00000169302	ENST00000397936;ENST00000398523	.	.	.	5.52	5.52	0.82312	.	0.191964	0.25885	N	0.027664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.563	0.91107	0.0:1.0:0.0:0.0	.	.	.	.	X	255	.	ENSP00000381030:S255X	S	+	2	0	STK32A	146730513	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	4.191000	0.58372	2.761000	0.94854	0.655000	0.94253	TCA		0.418	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	0	NM_145001		5:146750320
BCAN	63827	broad.mit.edu	37	1	156621427	156621427	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:156621427G>A	ENST00000329117.5	+	7	1579	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	BCAN_ENST00000361588.5_Missense_Mutation_p.G415R|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	415	Glu-rich.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGGACGGAGGAGGTGGAAG	0.557																																						ENST00000329117.5		NA																	0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1243-1245)Gga>Aga		brevican							90.0	89.0	89.0					1																	156621427		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156621427G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1243G>A	1.37:g.156621427G>A	ENSP00000331210:p.Gly415Arg	False	False		Somatic	0				BCAN_ENST00000361588.5_Missense_Mutation_p.G415R|RP11-284F21.7_ENST00000448869.1_RNA	p.G415R	NM_021948.4	NP_068767.3	WXS	Illumina HiSeq	Phase_I	Q96GW7	PGCB_HUMAN			7	1579	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		NA			Glu-rich.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1243G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292944	0.23564	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.13196	2.61;3.33	5.17	3.16	0.36331	.	0.777525	0.10979	N	0.612889	T	0.02193	0.0068	N	0.11201	0.11	0.09310	N	1	B;B	0.15473	0.006;0.013	B;B	0.14578	0.005;0.011	T	0.43940	-0.9360	10	0.15066	T	0.55	-0.351	11.1054	0.48199	0.1755:0.0:0.8245:0.0	.	415;415	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	R	354;415;415	ENSP00000331210:G415R;ENSP00000354925:G415R	ENSP00000255029:G354R	G	+	1	0	BCAN	154888051	0.011000	0.17503	0.672000	0.29872	0.985000	0.73830	1.976000	0.40579	1.418000	0.47098	0.655000	0.94253	GGA		0.557	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	0	NM_021948		1:156621427
ZNF835	90485	broad.mit.edu	37	19	57175831	57175831	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:57175831C>T	ENST00000537055.2	-	2	967	c.736G>A	c.(736-738)Ggt>Agt	p.G246S		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGCTTCTCACCGGTGTGGATG	0.692																																						ENST00000537055.2		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(736-738)Ggt>Agt		zinc finger protein 835							40.0	39.0	39.0					19																	57175831		2203	4299	6502	SO:0001583	missense	90485							g.chr19:57175831C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.736G>A	19.37:g.57175831C>T	ENSP00000444747:p.Gly246Ser	False	False		Somatic	0					p.G246S	NM_001005850.2	NP_001005850.2	WXS	Illumina HiSeq	Phase_I					2	967	-			NA					B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.736G>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267381	0.95399	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.25085	1.82	2.12	2.12	0.27331	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39963	0.1098	L	0.43152	1.355	0.31918	N	0.61385	D	0.89917	1.0	D	0.83275	0.996	T	0.46857	-0.9161	9	0.87932	D	0	.	10.2869	0.43573	0.0:1.0:0.0:0.0	.	268	Q9Y2P0	ZN835_HUMAN	S	268;246	ENSP00000444747:G246S	ENSP00000341756:G268S	G	-	1	0	ZNF835	61867643	0.002000	0.14202	0.005000	0.12908	0.717000	0.41224	1.681000	0.37618	1.506000	0.48736	0.561000	0.74099	GGT		0.692	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	0	NM_001005850		19:57175831
ATP5F1	515	broad.mit.edu	37	1	111992194	111992194	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:111992194G>A	ENST00000369722.3	+	1	637	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.A11T|Y_RNA_ENST00000363020.1_RNA|WDR77_ENST00000497278.1_5'Flank|WDR77_ENST00000235090.5_5'Flank|WDR77_ENST00000411751.2_5'Flank	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	11					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTCCGCCGCCGCCACAGCGGG	0.577																																						ENST00000369722.3		NA																	0				breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						c.(31-33)Gcc>Acc		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1							76.0	78.0	77.0					1																	111992194		2203	4300	6503	SO:0001583	missense	515				ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	g.chr1:111992194G>A	X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	840	protein-coding gene	gene with protein product		603270	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"""			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.31G>A	1.37:g.111992194G>A	ENSP00000358737:p.Ala11Thr	True	False		Somatic	0				ATP5F1_ENST00000483994.1_Missense_Mutation_p.A11T|ATP5F1_ENST00000369721.4_3'UTR	p.A11T	NM_001688.4	NP_001679.2	WXS	Illumina HiSeq	Phase_I	P24539	AT5F1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	637	+		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	11					Q9BQ68|Q9BRU8	Missense_Mutation	SNP	ENST00000369722.3	37	c.31G>A	CCDS836.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843991	0.71488	.	.	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.31510	1.49;1.51	5.73	4.82	0.62117	.	0.250346	0.33650	N	0.004681	T	0.09202	0.0227	L	0.54323	1.7	0.20074	N	0.999938	P;P	0.48640	0.913;0.913	B;B	0.28385	0.089;0.089	T	0.11817	-1.0572	10	0.24483	T	0.36	.	11.2813	0.49197	0.0844:0.0:0.9156:0.0	.	11;11	Q08ET0;P24539	.;AT5F1_HUMAN	T	11	ENSP00000358737:A11T;ENSP00000420366:A11T	ENSP00000358737:A11T	A	+	1	0	ATP5F1	111793717	0.986000	0.35501	1.000000	0.80357	0.867000	0.49689	2.836000	0.48183	1.562000	0.49601	0.655000	0.94253	GCC		0.577	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032455.1	0	NM_001688		1:111992194
CECR2	27443	broad.mit.edu	37	22	18021889	18021889	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr22:18021889C>T	ENST00000400585.2	+	16	2006	c.1568C>T	c.(1567-1569)aCa>aTa	p.T523I	CECR2_ENST00000400573.5_Missense_Mutation_p.T664I|CECR2_ENST00000262608.8_Missense_Mutation_p.T665I			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	706					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGGCTAGGCACACCAGAGGAG	0.547																																						ENST00000400573.5		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1990-1992)aCa>aTa		cat eye syndrome chromosome region, candidate 2							34.0	35.0	35.0					22																	18021889		1997	4153	6150	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18021889C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1568C>T	22.37:g.18021889C>T	ENSP00000383428:p.Thr523Ile	False	False		Somatic	0				CECR2_ENST00000262608.8_Missense_Mutation_p.T665I|CECR2_ENST00000400585.2_Missense_Mutation_p.T523I	p.T664I			WXS	Illumina HiSeq	Phase_I	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	1998	+		all_epithelial(15;0.139)	NA					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1991C>T		.	.	.	.	.	.	.	.	.	.	C	4.046	0.006138	0.07866	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26223	1.88;1.87;1.75	5.28	3.1	0.35709	.	1.079560	0.07208	N	0.858745	T	0.25195	0.0612	L	0.51422	1.61	0.09310	N	1	B;B;B	0.23442	0.085;0.049;0.029	B;B;B	0.14023	0.01;0.01;0.01	T	0.17684	-1.0361	10	0.29301	T	0.29	-0.0068	10.7002	0.45922	0.0:0.7801:0.0:0.2199	.	706;523;664	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	I	523;664;665	ENSP00000383428:T523I;ENSP00000383417:T664I;ENSP00000262608:T665I	ENSP00000262608:T665I	T	+	2	0	CECR2	16401889	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.558000	0.23469	1.467000	0.48044	0.655000	0.94253	ACA		0.547	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	0	NM_031413		22:18021889
KIAA0408	9729	broad.mit.edu	37	6	127771349	127771349	+	Missense_Mutation	SNP	G	G	A	rs551811170	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr6:127771349G>A	ENST00000483725.3	-	3	620	c.284C>T	c.(283-285)aCg>aTg	p.T95M	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000368268.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	95								p.T95M(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTTGTGATTCGTCCTTATAAA	0.358													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18584	0.0		0.0	False		,,,				2504	0.0					ENST00000483725.3		NA																	1	Substitution - Missense(1)	p.T95M(1)	pancreas(1)	endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(283-285)aCg>aTg		KIAA0408							125.0	126.0	125.0					6																	127771349		2203	4300	6503	SO:0001583	missense	9729						protein binding	g.chr6:127771349G>A	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.284C>T	6.37:g.127771349G>A	ENSP00000435150:p.Thr95Met	False	False		Somatic	0				SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.T95M	NM_014702.4	NP_055517.3	WXS	Illumina HiSeq	Phase_I	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	3	620	-			95					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	c.284C>T	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	G	0.313	-0.966787	0.02232	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	T;T	0.43294	0.95;0.95	5.7	3.22	0.36961	.	0.603786	0.12642	N	0.451213	T	0.04952	0.0133	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38628	-0.9652	10	0.30078	T	0.28	0.4989	7.4927	0.27471	0.766:0.0:0.234:0.0	.	95	Q6ZU52	K0408_HUMAN	M	95;107	ENSP00000435150:T95M;ENSP00000434384:T107M	ENSP00000435150:T95M	T	-	2	0	KIAA0408	127813042	0.001000	0.12720	0.008000	0.14137	0.002000	0.02628	0.957000	0.29215	0.978000	0.38470	-0.300000	0.09419	ACG		0.358	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	0	NM_014702		6:127771349
BAGE2	85319	broad.mit.edu	37	21	11098773	11098773	+	RNA	SNP	G	G	A	rs77771067	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr21:11098773G>A	ENST00000470054.1	-	0	152							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)		cgctcaggccgccctcctaac	0.627													-|||	2	0.000399361	0.0015	0.0	5008	,	,		42901	0.0		0.0	False		,,,				2504	0.0					ENST00000470054.1		NA																	0					NA								B melanoma antigen family, member 2		G		3,4281		0,3,2139	82.0	116.0	105.0				0.0	21	dbSNP_131	105	1,8543		0,1,4271	no	intergenic				0,4,6410	AA,AG,GG		0.0117,0.07,0.0312			11098773	4,12824	2142	4272	6414			85319							g.chr21:11098773G>A	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.11098773G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I			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	152	-			NA					A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	0	NM_182482		21:11098773
MIR509-1	574514	broad.mit.edu	37	X	146342062	146342062	+	RNA	SNP	A	A	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:146342062A>T	ENST00000385265.1	-	0	81				MIR509-2_ENST00000390724.1_RNA|MIR509-3_ENST00000390725.1_RNA	NR_030236.1|NR_030586.1				microRNA 509-1																		TGTGTCATGCAGTACTCTACC	0.453																																						ENST00000385265.1		NA																	0					NA															171.0	136.0	147.0					X																	146342062		1568	3582	5150			0							g.chrX:146342062A>T			Xq27.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000208000	ENSG00000208000		"""ncRNAs / Micro RNAs"""	32146	non-coding RNA	RNA, micro		300875	"""microRNA 509"""	MIRN509, MIRN509-1			Standard	NR_030236		Approved	hsa-mir-509, hsa-mir-509-1	uc022cfy.1				X.37:g.146342062A>T		False	False		Somatic	0						NR_030236.1|NR_030586.1		WXS	Illumina HiSeq	Phase_I					0	81	-			NA						RNA	SNP	ENST00000385265.1	37																																																																																						0.453	MIR509-1-201	KNOWN	basic	miRNA	miRNA		0	NR_030236		X:146342062
CACNA1D	776	broad.mit.edu	37	3	53752385	53752385	+	Missense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:53752385G>T	ENST00000350061.5	+	10	1959	c.1448G>T	c.(1447-1449)gGc>gTc	p.G483V	CACNA1D_ENST00000288139.4_Missense_Mutation_p.G483V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G483V	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	483					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCGGTGAAGGCGAGAACCGA	0.592																																						ENST00000288139.4		NA																	0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(1447-1449)gGc>gTc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						136.0	115.0	122.0					3																	53752385		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53752385G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1448G>T	3.37:g.53752385G>T	ENSP00000288133:p.Gly483Val	False	False		Somatic	0				CACNA1D_ENST00000350061.5_Missense_Mutation_p.G483V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G483V	p.G483V	NM_000720.2	NP_000711.1	WXS	Illumina HiSeq	Phase_I	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	10	1566	+			NA					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1448G>T	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.02|10.02	1.235118|1.235118	0.22626|0.22626	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000481085|ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.|D;D;D;D	.|0.93712	.|-3.27;-3.27;-3.27;-3.27	5.44|5.44	4.57|4.57	0.56435|0.56435	.|.	.|153.860000	.|0.00166	.|N	.|0.000000	D|D	0.89853|0.89853	0.6835|0.6835	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.25486	.|0.01;0.001;0.002;0.127	.|B;B;B;B	.|0.28305	.|0.01;0.002;0.008;0.088	T|T	0.69544|0.69544	-0.5117|-0.5117	5|10	.|0.39692	.|T	.|0.17	.|.	10.5212|10.5212	0.44920|0.44920	0.0:0.1448:0.7048:0.1504|0.0:0.1448:0.7048:0.1504	.|.	.|483;156;483;483	.|B0FYA3;Q59GD8;Q01668;Q01668-2	.|.;.;CAC1D_HUMAN;.	S|V	197|483;483;483;156	.|ENSP00000288133:G483V;ENSP00000288139:G483V;ENSP00000409174:G483V;ENSP00000418014:G156V	.|ENSP00000288139:G483V	A|G	+|+	1|2	0|0	CACNA1D|CACNA1D	53727425|53727425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.433000|0.433000	0.31745|0.31745	3.391000|3.391000	0.52530|0.52530	1.292000|1.292000	0.44672|0.44672	-0.150000|-0.150000	0.13652|0.13652	GCG|GGC		0.592	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	0	NM_000720		3:53752385
MYO3A	53904	broad.mit.edu	37	10	26434386	26434386	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr10:26434386G>A	ENST00000265944.5	+	22	2594	c.2428G>A	c.(2428-2430)Ggt>Agt	p.G810S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	810	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAAATTTGAAGGTAACCTGAA	0.313																																						ENST00000265944.5		NA																	0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2428-2430)Ggt>Agt		myosin IIIA							60.0	60.0	60.0					10																	26434386		2203	4298	6501	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26434386G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2428G>A	10.37:g.26434386G>A	ENSP00000265944:p.Gly810Ser	False	False		Somatic	0				MYO3A_ENST00000543632.1_Intron	p.G810S	NM_017433.4	NP_059129.3	WXS	Illumina HiSeq	Phase_I	Q8NEV4	MYO3A_HUMAN			22	2594	+			810			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2428G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325787	0.60743	.	.	ENSG00000095777	ENST00000265944	T	0.70164	-0.46	5.72	3.72	0.42706	Myosin head, motor domain (2);	0.357715	0.33144	N	0.005222	T	0.48223	0.1488	N	0.11023	0.085	0.80722	D	1	B	0.26547	0.152	B	0.32928	0.155	T	0.44205	-0.9343	10	0.34782	T	0.22	.	11.4508	0.50151	0.1574:0.0:0.8426:0.0	.	810	Q8NEV4	MYO3A_HUMAN	S	810	ENSP00000265944:G810S	ENSP00000265944:G810S	G	+	1	0	MYO3A	26474392	1.000000	0.71417	0.957000	0.39632	0.999000	0.98932	5.647000	0.67923	1.276000	0.44395	0.655000	0.94253	GGT		0.313	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	0	NM_017433		10:26434386
LRRC8A	56262	broad.mit.edu	37	9	131669884	131669884	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:131669884G>A	ENST00000259324.5	+	3	964	c.441G>A	c.(439-441)ccG>ccA	p.P147P	LRRC8A_ENST00000372600.4_Silent_p.P147P|LRRC8A_ENST00000372599.3_Silent_p.P147P	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	147					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCAAATTCCCGCGCACCAGCT	0.572																																						ENST00000259324.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(439-441)ccG>ccA		leucine rich repeat containing 8 family, member A							74.0	72.0	73.0					9																	131669884		2203	4300	6503	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131669884G>A	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.441G>A	9.37:g.131669884G>A		True	False		Somatic	0				LRRC8A_ENST00000372599.3_Silent_p.P147P|LRRC8A_ENST00000372600.4_Silent_p.P147P	p.P147P	NM_001127244.1	NP_001120716.1	WXS	Illumina HiSeq	Phase_I	Q8IWT6	LRC8A_HUMAN			3	964	+			147					Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.441G>A	CCDS35155.1																																																																																				0.572	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	0	NM_019594		9:131669884
ADCY5	111	broad.mit.edu	37	3	123021980	123021980	+	Silent	SNP	C	C	T	rs148384901		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:123021980C>T	ENST00000462833.1	-	14	3858	c.2646G>A	c.(2644-2646)gcG>gcA	p.A882A	ADCY5_ENST00000491190.1_Silent_p.A515A|ADCY5_ENST00000309879.5_Silent_p.A532A	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	882					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGGCCGACTCCGCCACGTGAC	0.652																																						ENST00000462833.1		NA																	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2644-2646)gcG>gcA		adenylate cyclase 5		C	,	1,4405	2.1+/-5.4	0,1,2202	59.0	53.0	55.0		1596,2646	1.1	1.0	3	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADCY5	NM_001199642.1,NM_183357.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	532/912,882/1262	123021980	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123021980C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2646G>A	3.37:g.123021980C>T		False	False		Somatic	0				ADCY5_ENST00000491190.1_Silent_p.A515A|ADCY5_ENST00000309879.5_Silent_p.A532A	p.A882A	NM_183357.2	NP_899200.1	WXS	Illumina HiSeq	Phase_I	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	14	3858	-			882					B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.2646G>A	CCDS3022.1																																																																																				0.652	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	0	XM_171048		3:123021980
FPR2	2358	broad.mit.edu	37	19	52272706	52272706	+	Silent	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:52272706C>T	ENST00000598776.1	+	2	1567	c.795C>T	c.(793-795)acC>acT	p.T265T	FPR2_ENST00000340023.6_Silent_p.T265T|FPR2_ENST00000598953.1_Silent_p.T265T	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	265					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTCTGGGCACCGTCTGGCTCA	0.502																																						ENST00000598776.1		NA																	0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(793-795)acC>acT		formyl peptide receptor 2							125.0	106.0	112.0					19																	52272706		2203	4300	6503	SO:0001819	synonymous_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272706C>T	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.795C>T	19.37:g.52272706C>T		False	False		Somatic	0				FPR2_ENST00000598953.1_Silent_p.T265T|FPR2_ENST00000340023.6_Silent_p.T265T	p.T265T	NM_001462.3	NP_001453.1	WXS	Illumina HiSeq	Phase_I	P25090	FPR2_HUMAN			2	1567	+			265					A8K3E2	Silent	SNP	ENST00000598776.1	37	c.795C>T	CCDS12840.1																																																																																				0.502	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	0	NM_001005738		19:52272706
AFMID	125061	broad.mit.edu	37	17	76187132	76187132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:76187132G>T	ENST00000586731.1	+	2	115	c.94G>T	c.(94-96)Gga>Tga	p.G32*	AFMID_ENST00000588800.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000589256.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000409257.5_Nonsense_Mutation_p.G49*|AFMID_ENST00000591952.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000327898.5_Nonsense_Mutation_p.G49*					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CTCACAGATAGGAATTGAAGG	0.557																																						ENST00000409257.5		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19						c.(145-147)Gga>Tga		arylformamidase							144.0	100.0	115.0					17																	76187132		2203	4300	6503	SO:0001587	stop_gained	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76187132G>T	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000586731.1:c.94G>T	17.37:g.76187132G>T	ENSP00000466241:p.Gly32*	False	False		Somatic	0				AFMID_ENST00000589256.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000588800.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000586731.1_Nonsense_Mutation_p.G32*|AFMID_ENST00000591952.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000327898.5_Nonsense_Mutation_p.G49*	p.G49*	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	WXS	Illumina HiSeq	Phase_I	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		2	199	+			49						Nonsense_Mutation	SNP	ENST00000586731.1	37	c.145G>T		.	.	.	.	.	.	.	.	.	.	G	34	5.309732	0.95629	.	.	ENSG00000183077	ENST00000409257;ENST00000409431;ENST00000409722;ENST00000392388;ENST00000327898	.	.	.	4.9	3.86	0.44501	.	0.483859	0.21363	N	0.075763	.	.	.	.	.	.	0.38453	D	0.947022	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-12.3045	4.8598	0.13577	0.1436:0.2108:0.6456:0.0	.	.	.	.	X	49	.	ENSP00000328938:G49X	G	+	1	0	AFMID	73698727	0.755000	0.28372	0.050000	0.19076	0.691000	0.40173	1.557000	0.36299	2.224000	0.72417	0.609000	0.83330	GGA		0.557	AFMID-015	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000438866.1	0	XM_058889		17:76187132
CBWD6	644019	broad.mit.edu	37	9	69247529	69247529	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr9:69247529G>A	ENST00000377457.5	-	5	588	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Silent_p.Y125Y	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	161							ATP binding (GO:0005524)	p.Y161Y(1)		lung(4)	4						TACCATCAAGGTAAATATCAC	0.299																																						ENST00000377457.5		NA																	1	Substitution - coding silent(1)	p.Y161Y(1)	lung(1)	lung(4)	4						c.(481-483)taC>taT		COBW domain containing 6																																				SO:0001819	synonymous_variant	644019						ATP binding	g.chr9:69247529G>A		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.483C>T	9.37:g.69247529G>A		False	False		Somatic	0				CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Silent_p.Y125Y	p.Y161Y	NM_001085457.1	NP_001078926.1	WXS	Illumina HiSeq	Phase_I	Q4V339	CBWD6_HUMAN			5	588	-			161						Silent	SNP	ENST00000377457.5	37	c.483C>T	CCDS43827.1																																																																																				0.299	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	0	XM_928822		9:69247529
TGFBR2	7048	broad.mit.edu	37	3	30713171	30713171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:30713171C>T	ENST00000295754.5	+	4	878	c.496C>T	c.(496-498)Caa>Taa	p.Q166*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.Q191*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	166					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGTCATATTTCAAGTGACAGG	0.473																																						ENST00000295754.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(496-498)Caa>Taa		transforming growth factor, beta receptor II (70/80kDa)							112.0	98.0	103.0					3																	30713171		2203	4300	6503	SO:0001587	stop_gained	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713171C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.496C>T	3.37:g.30713171C>T	ENSP00000295754:p.Gln166*	True	False		Somatic	0				TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.Q191*	p.Q166*	NM_003242.5	NP_003233.4	WXS	Illumina HiSeq	Phase_I	P37173	TGFR2_HUMAN			4	878	+			166					B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	c.496C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	38	6.940423	0.97952	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000383765;ENST00000439925	.	.	.	4.86	3.91	0.45181	.	0.557577	0.20898	N	0.083695	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	12.5905	0.56439	0.231:0.769:0.0:0.0	.	.	.	.	X	166;191;68;32	.	ENSP00000295754:Q166X	Q	+	1	0	TGFBR2	30688175	1.000000	0.71417	0.989000	0.46669	0.920000	0.55202	2.769000	0.47654	2.508000	0.84585	0.655000	0.94253	CAA		0.473	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	0			3:30713171
LRRC2	79442	broad.mit.edu	37	3	46563080	46563080	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:46563080C>G	ENST00000395905.3	-	8	1390	c.998G>C	c.(997-999)aGt>aCt	p.S333T	LRRC2_ENST00000296144.3_Missense_Mutation_p.S333T	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	333										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATCCCGTTCACTTTCCATTAT	0.328																																						ENST00000395905.3		NA																	0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(997-999)aGt>aCt		leucine rich repeat containing 2							114.0	112.0	113.0					3																	46563080		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46563080C>G	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.998G>C	3.37:g.46563080C>G	ENSP00000379241:p.Ser333Thr	True	False		Somatic	0				LRRC2_ENST00000296144.3_Missense_Mutation_p.S333T	p.S333T	NM_024512.4	NP_078788.2	WXS	Illumina HiSeq	Phase_I	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	8	1390	-		Ovarian(412;0.0563)	333					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.998G>C	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554666	0.27739	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.17854	2.25;2.25	4.56	3.67	0.42095	.	0.161627	0.41097	N	0.000942	T	0.13457	0.0326	L	0.40543	1.245	0.32701	N	0.512847	B	0.06786	0.001	B	0.08055	0.003	T	0.13845	-1.0494	10	0.14656	T	0.56	.	12.2733	0.54719	0.0:0.8089:0.1911:0.0	.	333	Q9BYS8	LRRC2_HUMAN	T	333	ENSP00000379241:S333T;ENSP00000296144:S333T	ENSP00000296144:S333T	S	-	2	0	LRRC2	46538084	0.998000	0.40836	0.863000	0.33907	0.897000	0.52465	0.599000	0.24089	1.245000	0.43885	0.591000	0.81541	AGT		0.328	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2	0			3:46563080
BECN1	8678	broad.mit.edu	37	17	40967986	40967986	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr17:40967986G>A	ENST00000361523.4	-	8	902	c.770C>T	c.(769-771)gCc>gTc	p.A257V	BECN1_ENST00000438274.3_Missense_Mutation_p.A181V|BECN1_ENST00000590099.1_Missense_Mutation_p.A257V	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	257					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTGCGTCTGGGCATAACGCAT	0.463																																						ENST00000361523.4		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(769-771)gCc>gTc		beclin 1, autophagy related							241.0	204.0	216.0					17																	40967986		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40967986G>A	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.770C>T	17.37:g.40967986G>A	ENSP00000355231:p.Ala257Val	True	False		Somatic	0				BECN1_ENST00000438274.3_Missense_Mutation_p.A181V|BECN1_ENST00000590099.1_Missense_Mutation_p.A257V	p.A257V	NM_003766.3	NP_003757.1	WXS	Illumina HiSeq	Phase_I	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	8	902	-		Breast(137;0.00104)	257					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.770C>T	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830695	0.50845	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.46451	0.87;2.55	5.95	5.95	0.96441	.	0.171847	0.52532	D	0.000064	T	0.34978	0.0916	L	0.33339	1.005	0.58432	D	0.999994	B;B	0.32188	0.359;0.024	B;B	0.29663	0.105;0.094	T	0.07083	-1.0791	10	0.18710	T	0.47	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	181;257	E7EV84;Q14457	.;BECN1_HUMAN	V	257;181;170	ENSP00000355231:A257V;ENSP00000416173:A181V	ENSP00000355231:A257V	A	-	2	0	BECN1	38221512	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	6.847000	0.75404	2.824000	0.97209	0.655000	0.94253	GCC		0.463	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	0	NM_003766		17:40967986
ARHGAP36	158763	broad.mit.edu	37	X	130218925	130218925	+	Missense_Mutation	SNP	T	T	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:130218925T>C	ENST00000276211.5	+	7	1187	c.842T>C	c.(841-843)cTg>cCg	p.L281P	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L269P|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L145P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	281	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GATGTAGTGCTGGATGACAAT	0.488																																						ENST00000276211.5		NA																	0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(841-843)cTg>cCg		Rho GTPase activating protein 36							197.0	162.0	174.0					X																	130218925		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130218925T>C		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.842T>C	X.37:g.130218925T>C	ENSP00000276211:p.Leu281Pro	False	False		Somatic	0				ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L145P|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L269P	p.L281P	NM_144967.3	NP_659404.2	WXS	Illumina HiSeq	Phase_I	Q6ZRI8	RHG36_HUMAN			7	1187	+			281			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.842T>C	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378294	0.82682	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.16	5.16	0.70880	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.187606	0.26397	N	0.024602	T	0.65186	0.2667	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.988;0.987	T	0.68876	-0.5293	10	0.52906	T	0.07	.	10.0987	0.42491	0.0:0.0:0.0:1.0	.	250;269;281	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	P	281;269;250;145	ENSP00000276211:L281P;ENSP00000359960:L269P;ENSP00000408515:L250P;ENSP00000359959:L145P	ENSP00000276211:L281P	L	+	2	0	ARHGAP36	130046606	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.818000	0.75257	1.909000	0.55274	0.356000	0.21956	CTG		0.488	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	0	NM_144967		X:130218925
IRAK3	11213	broad.mit.edu	37	12	66641598	66641598	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr12:66641598G>A	ENST00000261233.4	+	12	1859	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	IRAK3_ENST00000457197.2_Missense_Mutation_p.E419K	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTCCAGTGGAAGATGATGA	0.428																																						ENST00000261233.4		NA																	0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1438-1440)Gaa>Aaa		interleukin-1 receptor-associated kinase 3							126.0	117.0	120.0					12																	66641598		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66641598G>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1438G>A	12.37:g.66641598G>A	ENSP00000261233:p.Glu480Lys	False	False		Somatic	0				IRAK3_ENST00000457197.2_Missense_Mutation_p.E419K	p.E480K	NM_007199.2	NP_009130.2	WXS	Illumina HiSeq	Phase_I	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	12	1859	+			480						Missense_Mutation	SNP	ENST00000261233.4	37	c.1438G>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955128	0.92726	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.73258	-0.69;-0.73	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.77458	0.4133	L	0.36672	1.1	0.40471	D	0.980346	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.75628	-0.3252	9	.	.	.	-27.7703	15.4984	0.75677	0.0:0.0:1.0:0.0	.	419;480	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	K	480;419	ENSP00000261233:E480K;ENSP00000409852:E419K	.	E	+	1	0	IRAK3	64927865	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.853000	0.62911	2.724000	0.93272	0.561000	0.74099	GAA		0.428	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1	0			12:66641598
PSG6	5675	broad.mit.edu	37	19	43411814	43411814	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:43411814G>A	ENST00000292125.2	-	4	943	c.899C>T	c.(898-900)aCg>aTg	p.T300M	PSG6_ENST00000187910.2_Missense_Mutation_p.T300M|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	300	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTCATTTCTCGTGACACTGGG	0.488																																						ENST00000187910.2		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(898-900)aCg>aTg		pregnancy specific beta-1-glycoprotein 6							191.0	184.0	187.0					19																	43411814		2201	4295	6496	SO:0001583	missense	5675							g.chr19:43411814G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.899C>T	19.37:g.43411814G>A	ENSP00000292125:p.Thr300Met	False	False		Somatic	0				PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.T300M	p.T300M	NM_001031850.3	NP_001027020.1	WXS	Illumina HiSeq	Phase_I					4	964	-		Prostate(69;0.00899)	NA					O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.899C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	8.993	0.978199	0.18812	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.15603	2.41;2.41	1.42	-0.067	0.13762	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30665	0.0772	H	0.95745	3.715	0.09310	N	0.999998	B;P	0.39520	0.331;0.676	B;B	0.40864	0.146;0.342	T	0.33523	-0.9865	9	0.72032	D	0.01	.	4.8586	0.13571	0.0:0.397:0.603:0.0	.	300;300	Q00889;Q00889-2	PSG6_HUMAN;.	M	300	ENSP00000187910:T300M;ENSP00000292125:T300M	ENSP00000187910:T300M	T	-	2	0	PSG6	48103654	0.000000	0.05858	0.347000	0.25668	0.098000	0.18820	-0.625000	0.05534	0.792000	0.33850	0.134000	0.15878	ACG		0.488	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	0	NM_002782		19:43411814
SYT12	91683	broad.mit.edu	37	11	66807576	66807576	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr11:66807576C>T	ENST00000393946.2	+	7	1685	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	SYT12_ENST00000525457.1_Nonsense_Mutation_p.Q175*|SYT12_ENST00000527043.1_Nonsense_Mutation_p.Q175*|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	175	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GGCGGTGATGCAGGGCAAGGA	0.632																																					Ovarian(65;2862 3307)	ENST00000393946.2		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(523-525)Cag>Tag		synaptotagmin XII							60.0	58.0	59.0					11																	66807576		2200	4295	6495	SO:0001587	stop_gained	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66807576C>T	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.523C>T	11.37:g.66807576C>T	ENSP00000377520:p.Gln175*	False	False		Somatic	0				SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Nonsense_Mutation_p.Q175*|SYT12_ENST00000525457.1_Nonsense_Mutation_p.Q175*	p.Q175*			WXS	Illumina HiSeq	Phase_I	Q8IV01	SYT12_HUMAN			7	1685	+			175			C2 1.			Nonsense_Mutation	SNP	ENST00000393946.2	37	c.523C>T	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273932	0.80580	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	17.1708	0.86830	0.0:1.0:0.0:0.0	.	.	.	.	X	175	.	ENSP00000377520:Q175X	Q	+	1	0	SYT12	66564152	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	7.797000	0.85911	2.655000	0.90218	0.462000	0.41574	CAG		0.632	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	0	NM_177963		11:66807576
LOXL2	4017	broad.mit.edu	37	8	23191082	23191082	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:23191082G>A	ENST00000389131.3	-	5	1167	c.798C>T	c.(796-798)acC>acT	p.T266T	LOXL2_ENST00000518472.1_5'Flank|RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	266	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCTCTGTGCCGGTGCAGTCCA	0.617																																						ENST00000389131.3		NA																	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(796-798)acC>acT		lysyl oxidase-like 2							75.0	62.0	66.0					8																	23191082		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23191082G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.798C>T	8.37:g.23191082G>A		False	False		Somatic	0					p.T266T	NM_002318.2	NP_002309.1	WXS	Illumina HiSeq	Phase_I	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	5	1167	-		Prostate(55;0.0453)|Breast(100;0.143)	266			SRCR 2.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.798C>T	CCDS34864.1																																																																																				0.617	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1	0			8:23191082
OXTR	5021	broad.mit.edu	37	3	8794835	8794835	+	Missense_Mutation	SNP	G	G	A	rs200966415		TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr3:8794835G>A	ENST00000316793.3	-	4	1622	c.998C>T	c.(997-999)aCg>aTg	p.T333M	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	333					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GAGGTGGCCCGTGAACAGCAT	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19866	0.0		0.0	False		,,,				2504	0.0					ENST00000316793.3		NA																	0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13						c.(997-999)aCg>aTg		oxytocin receptor	Carbetocin(DB01282)	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	71.0	63.0	66.0		998	4.2	0.8	3		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	OXTR	NM_000916.3	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	333/390	8794835	2,13004	2203	4300	6503	SO:0001583	missense	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8794835G>A		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.998C>T	3.37:g.8794835G>A	ENSP00000324270:p.Thr333Met	True	False		Somatic	0				CAV3_ENST00000472766.1_Intron	p.T333M	NM_000916.3	NP_000907.2	WXS	Illumina HiSeq	Phase_I	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	4	1622	-			333					Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	c.998C>T	CCDS2570.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	23.0	4.366953	0.82463	2.27E-4	1.16E-4	ENSG00000180914	ENST00000316793	T	0.38560	1.13	5.13	4.23	0.50019	.	0.052718	0.85682	D	0.000000	T	0.55449	0.1921	M	0.63428	1.95	0.41902	D	0.990422	D	0.71674	0.998	P	0.57204	0.815	T	0.62158	-0.6913	10	0.87932	D	0	-32.9382	14.1848	0.65598	0.0:0.1509:0.8491:0.0	.	333	P30559	OXYR_HUMAN	M	333	ENSP00000324270:T333M	ENSP00000324270:T333M	T	-	2	0	OXTR	8769835	1.000000	0.71417	0.845000	0.33349	0.985000	0.73830	5.333000	0.65917	1.330000	0.45394	0.655000	0.94253	ACG		0.617	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2	0			3:8794835
MED14	9282	broad.mit.edu	37	X	40526067	40526067	+	Missense_Mutation	SNP	A	A	C			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:40526067A>C	ENST00000324817.1	-	24	3288	c.3170T>G	c.(3169-3171)tTg>tGg	p.L1057W		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1057	Pro-rich.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGGCTCTCAAAGCCCCACT	0.493																																						ENST00000324817.1		NA																	0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3169-3171)tTg>tGg		mediator complex subunit 14							29.0	26.0	27.0					X																	40526067		2201	4290	6491	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40526067A>C	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3170T>G	X.37:g.40526067A>C	ENSP00000323720:p.Leu1057Trp	True	False		Somatic	0					p.L1057W	NM_004229.3	NP_004220.2	WXS	Illumina HiSeq	Phase_I	O60244	MED14_HUMAN			24	3288	-			1057			Pro-rich.		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.3170T>G	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.337558	0.81911	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.75155	0.3811	L	0.53249	1.67	0.58432	D	0.999991	D	0.76494	0.999	D	0.77557	0.99	T	0.77587	-0.2532	9	0.72032	D	0.01	.	14.8838	0.70553	1.0:0.0:0.0:0.0	.	1057	O60244	MED14_HUMAN	W	1057	.	ENSP00000323720:L1057W	L	-	2	0	MED14	40411011	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.721000	0.91446	1.896000	0.54893	0.402000	0.26972	TTG		0.493	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	0	NM_004229		X:40526067
MAML3	55534	broad.mit.edu	37	4	140811087	140811087	+	Silent	SNP	C	C	T	rs544518608|rs58287721	byFrequency	TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:140811087C>T	ENST00000509479.2	-	2	2359	c.1503G>A	c.(1501-1503)caG>caA	p.Q501Q	MAML3_ENST00000327122.5_Silent_p.Q345Q|MAML3_ENST00000398940.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.532																																						ENST00000509479.2		NA																	0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1501-1503)caG>caA		mastermind-like 3 (Drosophila)							18.0	26.0	24.0					4																	140811087		2144	4285	6429	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811087C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1503G>A	4.37:g.140811087C>T		True	False		Somatic	0				MAML3_ENST00000398940.1_Intron|MAML3_ENST00000327122.5_Silent_p.Q345Q	p.Q501Q	NM_018717.4	NP_061187	WXS	Illumina HiSeq	Phase_I	Q96JK9	MAML3_HUMAN			2	2359	-	all_hematologic(180;0.162)		501			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1503G>A	CCDS54805.1																																																																																				0.532	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2	0			4:140811087
PAG1	55824	broad.mit.edu	37	8	81888976	81888976	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr8:81888976T>G	ENST00000220597.4	-	9	1812	c.1102A>C	c.(1102-1104)Act>Cct	p.T368P	PAG1_ENST00000523463.1_5'Flank	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	368					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CTGTTTGGAGTTTTTTCGAAG	0.512																																						ENST00000220597.4		NA																	0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11						c.(1102-1104)Act>Cct		phosphoprotein associated with glycosphingolipid microdomains 1							89.0	88.0	89.0					8																	81888976		2203	4300	6503	SO:0001583	missense	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81888976T>G	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.1102A>C	8.37:g.81888976T>G	ENSP00000220597:p.Thr368Pro	True	False		Somatic	0					p.T368P	NM_018440.3	NP_060910.3	WXS	Illumina HiSeq	Phase_I	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		9	1812	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		368					A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	c.1102A>C	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	T	3.651	-0.071468	0.07228	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.05	-2.76	0.05896	.	0.702006	0.14361	N	0.324452	T	0.34687	0.0906	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.26815	-1.0092	9	0.45353	T	0.12	-1.9998	6.671	0.23068	0.0:0.1378:0.3656:0.4965	.	368	Q9NWQ8	PAG1_HUMAN	P	368	.	ENSP00000220597:T368P	T	-	1	0	PAG1	82051531	0.005000	0.15991	0.027000	0.17364	0.026000	0.11368	0.003000	0.13083	-0.242000	0.09667	-1.106000	0.02097	ACT		0.512	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	0	NM_018440		8:81888976
NAA11	84779	broad.mit.edu	37	4	80246531	80246531	+	Silent	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr4:80246531G>A	ENST00000286794.4	-	1	673	c.501C>T	c.(499-501)ggC>ggT	p.G167G	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	167					N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CCACATACCCGCCCTTCTTCA	0.532																																						ENST00000286794.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						c.(499-501)ggC>ggT		N(alpha)-acetyltransferase 11, NatA catalytic subunit							56.0	57.0	57.0					4																	80246531		1986	4167	6153	SO:0001819	synonymous_variant	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246531G>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.501C>T	4.37:g.80246531G>A		True	False		Somatic	0				NAA11_ENST00000513733.1_5'UTR	p.G167G	NM_032693.2	NP_116082.1	WXS	Illumina HiSeq	Phase_I	Q9BSU3	NAA11_HUMAN			1	673	-			167					Q66K19|Q6P479	Silent	SNP	ENST00000286794.4	37	c.501C>T	CCDS47084.1																																																																																				0.532	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1	0			4:80246531
POTEE	445582	broad.mit.edu	37	2	131976091	131976091	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:131976091G>A	ENST00000356920.5	+	1	210	c.116G>A	c.(115-117)gGc>gAc	p.G39D	POTEE_ENST00000358087.5_Missense_Mutation_p.G39D|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	39					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AGGGAGAGCGGCAAGAGCAAC	0.582																																						ENST00000356920.5		NA																	0					NA						c.(115-117)gGc>gAc		POTE ankyrin domain family, member E							138.0	160.0	152.0					2																	131976091		2189	4298	6487	SO:0001583	missense	445582						ATP binding	g.chr2:131976091G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.116G>A	2.37:g.131976091G>A	ENSP00000439189:p.Gly39Asp	False	False		Somatic	0				PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.G39D	p.G39D	NM_001083538.1	NP_001077007.1	WXS	Illumina HiSeq	Phase_I	Q6S8J3	POTEE_HUMAN			1	210	+			39					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.116G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	9.831	1.188519	0.21954	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	D;T	0.81908	-1.55;1.01	0.1	0.1	0.14510	.	.	.	.	.	T	0.81795	0.4898	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	D	0.65010	0.931	T	0.70055	-0.4977	8	0.87932	D	0	.	.	.	.	.	39	Q6S8J3	POTEE_HUMAN	D	39	ENSP00000439189:G39D;ENSP00000443049:G39D	ENSP00000439189:G39D	G	+	2	0	AC131180.1	131692561	0.005000	0.15991	0.041000	0.18516	0.042000	0.13812	0.240000	0.18042	0.170000	0.19704	0.173000	0.16961	GGC		0.582	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001083538		2:131976091
PAX1	5075	broad.mit.edu	37	20	21687445	21687445	+	Missense_Mutation	SNP	G	G	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr20:21687445G>A	ENST00000398485.2	+	2	710	c.656G>A	c.(655-657)cGc>cAc	p.R219H	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.R195H	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	219	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R125L(1)|p.R219L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TCCATCAGCCGCATCCTGCGC	0.632																																						ENST00000398485.2		NA																	2	Substitution - Missense(2)	p.R125L(1)|p.R219L(1)	lung(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(655-657)cGc>cAc		paired box 1							53.0	58.0	56.0					20																	21687445		2203	4300	6503	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687445G>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.656G>A	20.37:g.21687445G>A	ENSP00000381499:p.Arg219His	False	False		Somatic	0				PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.R195H	p.R219H	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	WXS	Illumina HiSeq	Phase_I	P15863	PAX1_HUMAN			2	710	+			219			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.656G>A	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891242	0.72524	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99674	-6.36;-6.36	5.33	5.33	0.75918	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.97675	1.0169	10	0.87932	D	0	.	18.6396	0.91390	0.0:0.0:1.0:0.0	.	195;125;219	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	H	219;195	ENSP00000381499:R219H;ENSP00000410355:R195H	ENSP00000381499:R219H	R	+	2	0	PAX1	21635445	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	9.602000	0.98312	2.492000	0.84095	0.563000	0.77884	CGC		0.632	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3	0			20:21687445
C7orf57	136288	broad.mit.edu	37	7	48080979	48080979	+	Missense_Mutation	SNP	C	C	T			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr7:48080979C>T	ENST00000348904.3	+	3	316	c.104C>T	c.(103-105)gCc>gTc	p.A35V	C7orf57_ENST00000539619.1_Missense_Mutation_p.A35V|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000420324.1_Missense_Mutation_p.A80V|C7orf57_ENST00000430738.1_Missense_Mutation_p.A80V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	35										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GCCGTGGATGCCCCACCAGCG	0.567																																						ENST00000348904.3		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(103-105)gCc>gTc		chromosome 7 open reading frame 57							53.0	57.0	56.0					7																	48080979		1934	4147	6081	SO:0001583	missense	136288							g.chr7:48080979C>T	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.104C>T	7.37:g.48080979C>T	ENSP00000335500:p.Ala35Val	True	False		Somatic	0				C7orf57_ENST00000420324.1_Missense_Mutation_p.A80V|C7orf57_ENST00000539619.1_Missense_Mutation_p.A35V|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.A80V	p.A35V	NM_001100159.2	NP_001093629.1	WXS	Illumina HiSeq	Phase_I	Q8NEG2	CG057_HUMAN			3	316	+			35					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.104C>T	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	C	0.418	-0.909812	0.02434	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.69	-1.12	0.09808	.	0.758231	0.12566	N	0.457767	T	0.29491	0.0735	N	0.11698	0.16	0.09310	N	1	B	0.14438	0.01	B	0.16722	0.016	T	0.22765	-1.0207	10	0.18710	T	0.47	-42.8651	9.8678	0.41154	0.0:0.4479:0.0:0.5521	.	35	Q8NEG2	CG057_HUMAN	V	80;80;35;35	ENSP00000394648:A80V;ENSP00000410944:A80V;ENSP00000335500:A35V;ENSP00000442474:A35V	ENSP00000335500:A35V	A	+	2	0	C7orf57	48047504	0.000000	0.05858	0.005000	0.12908	0.037000	0.13140	-0.525000	0.06214	-0.112000	0.11979	-0.251000	0.11542	GCC		0.567	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	0	NM_001100159		7:48080979
HPN	3249	broad.mit.edu	37	19	35556925	35556925	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr19:35556925C>G	ENST00000262626.2	+	12	2029	c.1204C>G	c.(1204-1206)Cag>Gag	p.Q402E	HPN_ENST00000392226.1_Missense_Mutation_p.Q402E|HPN_ENST00000597419.1_Missense_Mutation_p.Q244E|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	402	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GTGGATCTTCCAGGCCATAAA	0.562																																						ENST00000262626.2		NA																	0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(1204-1206)Cag>Gag		hepsin	Coagulation factor VIIa(DB00036)						96.0	104.0	101.0					19																	35556925		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556925C>G		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.1204C>G	19.37:g.35556925C>G	ENSP00000262626:p.Gln402Glu	False	False		Somatic	0				HPN_ENST00000392226.1_Missense_Mutation_p.Q402E|HPN_ENST00000597419.1_Missense_Mutation_p.Q244E|HPN-AS1_ENST00000392227.2_RNA	p.Q402E	NM_182983.2	NP_892028.1	WXS	Illumina HiSeq	Phase_I	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		12	2029	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		402			Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.1204C>G	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570793	0.28003	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.87887	-2.31;-2.31	4.86	3.81	0.43845	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.194075	0.40908	D	0.000999	T	0.62575	0.2439	N	0.01656	-0.775	0.80722	D	1	B;B;B	0.23249	0.024;0.067;0.082	B;B;B	0.13407	0.003;0.006;0.009	T	0.62558	-0.6829	10	0.02654	T	1	.	10.3731	0.44066	0.3539:0.6461:0.0:0.0	.	374;402;402	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	E	402;402;374	ENSP00000262626:Q402E;ENSP00000376060:Q402E	ENSP00000262626:Q402E	Q	+	1	0	HPN	40248765	0.966000	0.33281	1.000000	0.80357	0.970000	0.65996	1.161000	0.31773	1.252000	0.44001	0.455000	0.32223	CAG		0.562	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	0	NM_002151		19:35556925
ARHGEF6	9459	broad.mit.edu	37	X	135789073	135789073	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chrX:135789073T>A	ENST00000250617.6	-	9	2245	c.1040A>T	c.(1039-1041)cAg>cTg	p.Q347L	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q193L|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q193L|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q220L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	347	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTACCTGTGCTGAGTGAGCAC	0.408																																						ENST00000250617.6		NA																	0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(1039-1041)cAg>cTg		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							184.0	166.0	172.0					X																	135789073		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135789073T>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1040A>T	X.37:g.135789073T>A	ENSP00000250617:p.Gln347Leu	True	False		Somatic	0				ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q193L|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q220L|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q193L	p.Q347L	NM_004840.2	NP_004831.1	WXS	Illumina HiSeq	Phase_I	Q15052	ARHG6_HUMAN			9	2245	-	Acute lymphoblastic leukemia(192;0.000127)		347			DH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.1040A>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295049	0.60086	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.15	5.15	0.70609	Dbl homology (DH) domain (5);	0.210007	0.49916	D	0.000125	T	0.70718	0.3256	M	0.81802	2.56	0.42510	D	0.992962	P;P	0.43352	0.629;0.804	B;P	0.47346	0.326;0.544	T	0.76280	-0.3017	10	0.72032	D	0.01	.	13.1422	0.59440	0.0:0.0:0.0:1.0	.	220;347	B7Z3C7;Q15052	.;ARHG6_HUMAN	L	347;193;193;193;220	ENSP00000250617:Q347L;ENSP00000359654:Q193L;ENSP00000359656:Q193L;ENSP00000439483:Q220L	ENSP00000250617:Q347L	Q	-	2	0	ARHGEF6	135616739	1.000000	0.71417	0.995000	0.50966	0.557000	0.35523	7.138000	0.77305	1.813000	0.52934	0.486000	0.48141	CAG		0.408	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	0	NM_004840		X:135789073
M1AP	130951	broad.mit.edu	37	2	74785998	74785998	+	Missense_Mutation	SNP	C	C	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr2:74785998C>G	ENST00000290536.5	-	11	1554	c.1438G>C	c.(1438-1440)Ggg>Cgg	p.G480R	M1AP_ENST00000358434.2_Missense_Mutation_p.G129R|M1AP_ENST00000536235.1_Missense_Mutation_p.G476R|M1AP_ENST00000409585.1_Missense_Mutation_p.G476R|M1AP_ENST00000464686.1_5'UTR	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	480					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TGCAACTGCCCAGTCTGCAAA	0.542																																						ENST00000290536.5		NA																	0					NA						c.(1438-1440)Ggg>Cgg		meiosis 1 associated protein							54.0	54.0	54.0					2																	74785998		2203	4300	6503	SO:0001583	missense	130951							g.chr2:74785998C>G		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1438G>C	2.37:g.74785998C>G	ENSP00000290536:p.Gly480Arg	True	False		Somatic	0				M1AP_ENST00000536235.1_Missense_Mutation_p.G476R|M1AP_ENST00000358434.2_Missense_Mutation_p.G129R|M1AP_ENST00000409585.1_Missense_Mutation_p.G476R|M1AP_ENST00000464686.1_5'UTR	p.G480R	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	WXS	Illumina HiSeq	Phase_I					11	1554	-			NA					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.1438G>C	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246829	0.59103	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	T;T;T	0.31769	1.48;1.48;1.48	5.44	3.63	0.41609	.	0.496010	0.20385	N	0.093379	T	0.44561	0.1299	L	0.60455	1.87	0.32055	N	0.596454	D;D;D;D	0.71674	0.97;0.998;0.983;0.983	P;D;P;P	0.66979	0.758;0.948;0.758;0.822	T	0.50898	-0.8773	10	0.38643	T	0.18	-5.5072	7.2232	0.25999	0.0:0.7389:0.1715:0.0895	.	476;129;480;232	E9PGG8;Q8TC57-3;Q8TC57;B3KX03	.;.;CB065_HUMAN;.	R	480;476;476;129	ENSP00000290536:G480R;ENSP00000386793:G476R;ENSP00000445662:G476R	ENSP00000290536:G480R	G	-	1	0	C2orf65	74639506	0.567000	0.26626	0.918000	0.36340	0.790000	0.44656	0.812000	0.27211	0.833000	0.34828	0.655000	0.94253	GGG		0.542	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	0	NM_138804		2:74785998
PRAMEF1	65121	broad.mit.edu	37	1	12854342	12854342	+	Missense_Mutation	SNP	T	T	A			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:12854342T>A	ENST00000332296.7	+	3	669	c.566T>A	c.(565-567)cTa>cAa	p.L189Q	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	189					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAATTATCTAACGCCGATT	0.408																																						ENST00000332296.7		NA																	0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(565-567)cTa>cAa		PRAME family member 1							191.0	204.0	199.0					1																	12854342		2203	4298	6501	SO:0001583	missense	65121							g.chr1:12854342T>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.566T>A	1.37:g.12854342T>A	ENSP00000332134:p.Leu189Gln	False	False		Somatic	0					p.L189Q	NM_023013.2	NP_075389.1	WXS	Illumina HiSeq	Phase_I	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	669	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	189					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.566T>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	9.962	1.223003	0.22457	.	.	ENSG00000116721	ENST00000332296	T	0.16073	2.37	1.74	-0.417	0.12347	.	2.422510	0.01980	N	0.044713	T	0.13543	0.0328	N	0.02539	-0.55	0.09310	N	1	D	0.65815	0.995	P	0.60949	0.881	T	0.10064	-1.0646	10	0.32370	T	0.25	.	2.8483	0.05550	0.0:0.4951:0.2994:0.2055	.	189	O95521	PRAM1_HUMAN	Q	189	ENSP00000332134:L189Q	ENSP00000332134:L189Q	L	+	2	0	PRAMEF1	12776929	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.504000	0.06375	-0.102000	0.12197	-0.427000	0.05922	CTA		0.408	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	0	NM_023013		1:12854342
PM20D1	148811	broad.mit.edu	37	1	205819140	205819140	+	Missense_Mutation	SNP	T	T	G			TCGA-2L-AAQJ-01A-12D-A397-08	TCGA-2L-AAQJ-11A-11D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	de369dbb-736e-4970-998d-a0470029653f	cb472e98-8801-40f4-9c2c-6ebb03b41c40	g.chr1:205819140T>G	ENST00000367136.4	-	1	105	c.61A>C	c.(61-63)Acc>Ccc	p.T21P	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	21					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CTGGAGACGGTAGGGAAAACT	0.602																																						ENST00000367136.4		NA																	0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(61-63)Acc>Ccc		peptidase M20 domain containing 1							82.0	77.0	79.0					1																	205819140		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205819140T>G		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.61A>C	1.37:g.205819140T>G	ENSP00000356104:p.Thr21Pro	False	False		Somatic	0				PM20D1_ENST00000460624.1_5'UTR	p.T21P	NM_152491.4	NP_689704.4	WXS	Illumina HiSeq	Phase_I	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		1	105	-	Breast(84;0.201)		21					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.61A>C	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018274	0.35606	.	.	ENSG00000162877	ENST00000367136	T	0.07327	3.2	5.44	0.353	0.16058	.	0.566255	0.20291	N	0.095250	T	0.08714	0.0216	L	0.59436	1.845	0.09310	N	1	P	0.49961	0.93	P	0.44860	0.462	T	0.20874	-1.0262	10	0.36615	T	0.2	.	3.7543	0.08579	0.1477:0.2187:0.0:0.6336	.	21	Q6GTS8	P20D1_HUMAN	P	21	ENSP00000356104:T21P	ENSP00000356104:T21P	T	-	1	0	PM20D1	204085763	0.961000	0.32948	0.001000	0.08648	0.039000	0.13416	0.604000	0.24164	-0.105000	0.12132	0.533000	0.62120	ACC		0.602	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	0	NM_152491		1:205819140
