#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
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000506523.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000396053.4_Intron			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_ENST00000506523.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_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
ZNF18	7566	broad.mit.edu	37	17	11881816	11881818	+	In_Frame_Del	DEL	GTT	GTT	-	rs144680153	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:11881816_11881818delGTT	ENST00000322748.3	-	9	1710_1712	c.1106_1108delAAC	c.(1105-1110)caacta>cta	p.Q369del	ZNF18_ENST00000580306.2_In_Frame_Del_p.Q369del|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000454073.3_In_Frame_Del_p.Q368del	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	369					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TGCTGACCTAGTTGTTTCTCAGA	0.502														6	0.00119808	0.0	0.0	5008	,	,		17923	0.006		0.0	False		,,,				2504	0.0					ENST00000322748.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(1105-1110)caacta>cta		zinc finger protein 18				6,4258		3,0,2129						-3.5	0.0		dbSNP_134	111	15,8237		6,3,4117	no	coding	ZNF18	NM_144680.2		9,3,6246	A1A1,A1R,RR		0.1818,0.1407,0.1678				21,12495				SO:0001651	inframe_deletion	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11881816_11881818delGTT	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1106_1108delAAC	17.37:g.11881819_11881821delGTT	ENSP00000315664:p.Gln369del	False	False		Somatic	2				ZNF18_ENST00000580613.1_Intron|ZNF18_ENST00000580306.1_In_Frame_Del_p.Q369del|ZNF18_ENST00000454073.3_In_Frame_Del_p.Q368del	p.Q369del	NM_144680.2	NP_653281.2	WXS	Illumina HiSeq	Phase_I	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	9	1710_1712	-			369					Q5QHQ3|Q8IYC4|Q8NAH6	In_Frame_Del	DEL	ENST00000322748.3	37	c.1106_1108delAAC	CCDS32568.1																																																																																				0.502	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	0	XM_085596		17:11881816
CTSA	5476	broad.mit.edu	37	20	44520255	44520255	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:44520255delG	ENST00000372459.2	+	1	241	c.48delG	c.(46-48)ctgfs	p.L19fs	NEURL2_ENST00000372518.4_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000354880.5_Frame_Shift_Del_p.L37fs|CTSA_ENST00000372484.3_Frame_Shift_Del_p.L37fs|CTSA_ENST00000191018.5_Frame_Shift_Del_p.L19fs			P10619	PPGB_HUMAN	cathepsin A	19				Missing (in Ref. 4; AAH00597). {ECO:0000305}.	glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				tgctgctgctgctgctgctAG	0.697																																						ENST00000372484.3		NA																	0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(100-102)ctgfs		cathepsin A							16.0	20.0	19.0					20																	44520255		2131	4162	6293	SO:0001589	frameshift_variant	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44520255delG	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.48delG	20.37:g.44520255delG	ENSP00000361537:p.Leu19fs	True	False		Somatic	1				CTSA_ENST00000372459.2_Frame_Shift_Del_p.L19fs|CTSA_ENST00000354880.5_Frame_Shift_Del_p.L37fs|CTSA_ENST00000191018.5_Frame_Shift_Del_p.L19fs	p.L37fs	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	WXS	Illumina HiSeq	Phase_I	P10619	PPGB_HUMAN			2	384	+		Myeloproliferative disorder(115;0.0122)	19					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Frame_Shift_Del	DEL	ENST00000372459.2	37	c.102delG	CCDS46609.1																																																																																				0.697	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	0	NM_000308		20:44520255
CTSA	5476	broad.mit.edu	37	20	44520257	44520261	+	Frame_Shift_Del	DEL	TGCTG	TGCTG	-	rs562182818|rs564815597|rs181943893|rs544157818|rs576896599|rs530287837	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	TGCTG	TGCTG	-	-	TGCTG	TGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:44520257_44520261delTGCTG	ENST00000372459.2	+	1	243_247	c.50_54delTGCTG	c.(49-54)ctgctgfs	p.LL17fs	NEURL2_ENST00000372518.4_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000354880.5_Frame_Shift_Del_p.LL35fs|CTSA_ENST00000372484.3_Frame_Shift_Del_p.LL35fs|CTSA_ENST00000191018.5_Frame_Shift_Del_p.LL17fs			P10619	PPGB_HUMAN	cathepsin A	17					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)	p.L36fs*121(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ctgctgctgctgctgctAGTGTCCT	0.698																																						ENST00000372484.3		NA																	1	Deletion - Frameshift(1)	p.L36fs*121(1)	large_intestine(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(103-108)ctgctgfs		cathepsin A																																				SO:0001589	frameshift_variant	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44520257_44520261delTGCTG	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.50_54delTGCTG	20.37:g.44520257_44520261delTGCTG	ENSP00000361537:p.Leu17fs	True	False		Somatic	1				CTSA_ENST00000372459.2_Frame_Shift_Del_p.LL17fs|CTSA_ENST00000354880.5_Frame_Shift_Del_p.LL35fs|CTSA_ENST00000191018.5_Frame_Shift_Del_p.LL17fs	p.LL35fs	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	WXS	Illumina HiSeq	Phase_I	P10619	PPGB_HUMAN			2	386_390	+		Myeloproliferative disorder(115;0.0122)	17					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Frame_Shift_Del	DEL	ENST00000372459.2	37	c.104_108delTGCTG	CCDS46609.1																																																																																				0.698	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	0	NM_000308		20:44520257
KRTAP10-10	353333	broad.mit.edu	37	21	46057613	46057627	+	In_Frame_Del	DEL	CTGCTGTGTGCCTGT	CTGCTGTGTGCCTGT	-	rs66931310|rs375198526|rs56249559|rs55677560|rs77286437	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	CTGCTGTGTGCCTGT	CTGCTGTGTGCCTGT	-	-	CTGCTGTGTGCCTGT	CTGCTGTGTGCCTGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr21:46057613_46057627delCTGCTGTGTGCCTGT	ENST00000380095.1	+	1	341_355	c.279_293delCTGCTGTGTGCCTGT	c.(277-294)gcctgctgtgtgcctgtc>gcc	p.CCVPV104del	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	104	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						gccagcaggcctgctgtgtgcctgtctgctgtgtg	0.628														2493	0.497804	0.5575	0.6153	5008	,	,		22046	0.37		0.5736	False		,,,				2504	0.3875					ENST00000380095.1		NA																	0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(277-294)gcctgctgtgtgcctgtc>gcc		keratin associated protein 10-10			,	2335,1929		615,1105,412					,	-1.6	0.0		dbSNP_130	113	4575,3679		1191,2193,743	no	coding,intron	TSPEAR,KRTAP10-10	NM_181688.1,NM_144991.2	,	1806,3298,1155	A1A1,A1R,RR		44.5723,45.2392,44.7995	,	,		6910,5608				SO:0001651	inframe_deletion	353333					keratin filament		g.chr21:46057613_46057627delCTGCTGTGTGCCTGT	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.279_293delCTGCTGTGTGCCTGT	21.37:g.46057613_46057627delCTGCTGTGTGCCTGT	ENSP00000369438:p.Cys104_Val108del	True	False		Somatic	1				TSPEAR_ENST00000323084.4_Intron	p.CCVPV104del	NM_181688.1	NP_859016.1	WXS	Illumina HiSeq	Phase_I	P60014	KR10A_HUMAN			1	341_355	+			104			15 X 5 AA repeats of C-C-X(3).			In_Frame_Del	DEL	ENST00000380095.1	37	c.279_293delCTGCTGTGTGCCTGT	CCDS33585.1																																																																																				0.628	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	0	NM_181688		21:46057613
PCNT	5116	broad.mit.edu	37	21	47855894	47855896	+	In_Frame_Del	DEL	GAA	GAA	-	rs562568796	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr21:47855894_47855896delGAA	ENST00000359568.5	+	39	8936_8938	c.8829_8831delGAA	c.(8827-8832)tcgaag>tcg	p.K2944del	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2944					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCTGGAGTCGAAGGACGAGGTG	0.586														6	0.00119808	0.0	0.0	5008	,	,		17174	0.006		0.0	False		,,,				2504	0.0					ENST00000359568.5		NA																	0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8827-8832)tcgaag>tcg		pericentrin																																				SO:0001651	inframe_deletion	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47855894_47855896delGAA	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8829_8831delGAA	21.37:g.47855894_47855896delGAA	ENSP00000352572:p.Lys2944del	False	False		Somatic	1				PCNT_ENST00000480896.1_3'UTR	p.K2944del	NM_006031.5	NP_006022.3	WXS	Illumina HiSeq	Phase_I	O95613	PCNT_HUMAN			39	8936_8938	+	Breast(49;0.112)		2944					O43152|Q7Z7C9	In_Frame_Del	DEL	ENST00000359568.5	37	c.8829_8831delGAA	CCDS33592.1																																																																																				0.586	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	NM_006031		21:47855894
OR2T4	127074	broad.mit.edu	37	1	248525639	248525639	+	Frame_Shift_Del	DEL	A	A	-	rs34079073|rs76878172	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:248525639delA	ENST00000366475.1	+	1	757	c.757delA	c.(757-759)atcfs	p.I253fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	253						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)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTATTTACTCATCCTCCTCAC	0.522													a|A|-|deletion	2010	0.401358	0.3389	0.4452	5008	,	,		21944	0.3393		0.4811	False		,,,				2504	0.4366					ENST00000366475.1		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(757-759)atcfs		olfactory receptor, family 2, subfamily T, member 4				1560,2706		284,992,857	94.0	74.0	81.0			-2.8	0.0	1	dbSNP_126	132	4448,3806		1199,2050,878	no	frameshift	OR2T4	NM_001004696.1		1483,3042,1735	A1A1,A1R,RR		46.111,36.5682,47.9872			248525639	6008,6512	2024	3426	5450	SO:0001589	frameshift_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525639delA	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.757delA	1.37:g.248525639delA	ENSP00000355431:p.Ile253fs	False	False		Somatic	1					p.I253fs	NM_001004696.1	NP_001004696.1	WXS	Illumina HiSeq	Phase_I	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	757	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		253					Q6IEZ8	Frame_Shift_Del	DEL	ENST00000366475.1	37	c.757delA	CCDS31113.1																																																																																				0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	0	NM_001004696		1:248525639
CPS1	1373	broad.mit.edu	37	2	211421452	211421453	+	5'UTR	INS	-	-	TCT	rs61509952|rs3835047|rs34778124|rs201874641	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:211421452_211421453insTCT	ENST00000233072.5	+	0	191_192				CPS1_ENST00000430249.2_In_Frame_Ins_p.5_6insF	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GCCACAAATCATCAAAATGACG	0.347														2389	0.477037	0.5968	0.5086	5008	,	,		19934	0.3492		0.4175	False		,,,				2504	0.4857					ENST00000430249.2		NA																	0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(13-15)atc>aTCTtc		carbamoyl-phosphate synthase 1, mitochondrial			,	2464,1802		707,1050,376					,	3.0	1.0		dbSNP_107	63	3312,4938		646,2020,1459	no	utr-5,coding	CPS1	NM_001875.4,NM_001122633.2	,	1353,3070,1835	A1A1,A1R,RR		40.1455,42.241,46.1489	,	,		5776,6740				SO:0001623	5_prime_UTR_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211421452_211421453insTCT	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.-5->TCT	2.37:g.211421452_211421453insTCT		False	False		Somatic	0				CPS1_ENST00000233072.5_5'UTR	p.5_6insF	NM_001122633.2	NP_001116105.1	WXS	Illumina HiSeq	Phase_I	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	2	68_69	+			0					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	In_Frame_Ins	INS	ENST00000233072.5	37	c.13_14insTCT	CCDS2393.1																																																																																				0.347	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5	0			2:211421452
HACL1	26061	broad.mit.edu	37	3	15613278	15613279	+	Splice_Site	INS	-	-	G	rs56298314|rs200924343	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:15613278_15613279insG	ENST00000321169.5	-	12	1361		c.e12-2		HACL1_ENST00000457447.2_Intron|HACL1_ENST00000435217.2_Splice_Site|HACL1_ENST00000456194.2_Splice_Site|HACL1_ENST00000451445.2_Splice_Site	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1						cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTCTAAAAGCTTAAAAAAAAAA	0.322																																						ENST00000451445.2		NA																	0				NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						c.e9-2		2-hydroxyacyl-CoA lyase 1																																				SO:0001630	splice_region_variant	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15613278_15613279insG	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.994-2->C	3.37:g.15613278_15613279insG		True	False		Somatic	0				HACL1_ENST00000435217.2_Splice_Site|HACL1_ENST00000321169.5_Splice_Site|HACL1_ENST00000456194.2_Splice_Site|HACL1_ENST00000457447.2_Intron				WXS	Illumina HiSeq	Phase_I	Q9UJ83	HACL1_HUMAN			9	871	-			NA					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Splice_Site	INS	ENST00000321169.5	37		CCDS2627.1																																																																																				0.322	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	0	NM_012260	Intron	3:15613278
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
DRD5	1816	broad.mit.edu	37	4	9784049	9784050	+	Frame_Shift_Ins	INS	-	-	GTCAGCAG			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr4:9784049_9784050insGTCAGCAG	ENST00000304374.2	+	1	792_793	c.396_397insGTCAGCAG	c.(397-399)gtcfs	p.-133fs		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5						activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGAACCTGTGCGTCATCAGCGT	0.624																																						ENST00000304374.2		NA																	0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(397-399)gtcfs		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)																																			SO:0001589	frameshift_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784049_9784050insGTCAGCAG	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	Exception_encountered	4.37:g.9784049_9784050insGTCAGCAG	ENSP00000306129:p.Val133fs	False	False		Somatic	0					p.-133fs	NM_000798.4	NP_000789.1	WXS	Illumina HiSeq	Phase_I	P21918	DRD5_HUMAN			1	792_793	+			NA					B2R9S3|Q8NEQ8	Frame_Shift_Ins	INS	ENST00000304374.2	37	c.396_397insGTCAGCAG	CCDS3405.1																																																																																				0.624	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1	0			4:9784049
CDKN2AIP	55602	broad.mit.edu	37	4	184367559	184367561	+	In_Frame_Del	DEL	CTG	CTG	-	rs398108445|rs147291711|rs10533201|rs201501817	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	CTG	CTG	-	-	CTG	CTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr4:184367559_184367561delCTG	ENST00000504169.1	+	3	929_931	c.722_724delCTG	c.(721-726)tctgca>tca	p.A242del	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	242	Ser-rich.			Missing (in Ref. 3; EAX04691 and 4; AAH22270). {ECO:0000305}.	negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAACACGGTTCTGCATCATTTGT	0.458														1818	0.363019	0.1203	0.4164	5008	,	,		22238	0.244		0.7247	False		,,,				2504	0.4039					ENST00000504169.1		NA																	0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(721-726)tctgca>tca		CDKN2A interacting protein				915,3351		96,723,1314						1.2	0.8		dbSNP_134	82	6064,2190		2233,1598,296	no	coding	CDKN2AIP	NM_017632.2		2329,2321,1610	A1A1,A1R,RR		26.5326,21.4487,44.2572				6979,5541				SO:0001651	inframe_deletion	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367559_184367561delCTG	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.722_724delCTG	4.37:g.184367559_184367561delCTG	ENSP00000427108:p.Ala242del	False	False		Somatic	1				CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	p.A242del	NM_017632.2	NP_060102.1	WXS	Illumina HiSeq	Phase_I	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	929_931	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	242	Missing (in Ref. 3; EAX04691 and 4; AAH22270).		Ser-rich.		Q8TBM5|Q9NYH0	In_Frame_Del	DEL	ENST00000504169.1	37	c.722_724delCTG	CCDS34110.1																																																																																				0.458	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	0	NM_017632		4:184367559
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)aagagafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs	True	False		Somatic	1					p.KR41fs	NM_001284.2	NP_001275.1	WXS	Illumina HiSeq	Phase_I	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2	0			5:115202418
HECW1	23072	broad.mit.edu	37	7	43484825	43484869	+	In_Frame_Del	DEL	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	-	rs191603508|rs368768711|rs374384580|rs536252847|rs542873283|rs574765072		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	-	-	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	CCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:43484825_43484869delCCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	ENST00000395891.2	+	11	2659_2703	c.2054_2098delCCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	c.(2053-2100)tcctcgtgctacagcacgtcctgctacagcagctcgtgctacagcgcc>tcc	p.SCYSTSCYSSSCYSA686del	HECW1_ENST00000453890.1_In_Frame_Del_p.SCYSTSCYSSSCYSA686del	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	686	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S675L(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGCTACAGCTCCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCGCCTCGTGCTA	0.657																																						ENST00000453890.1		NA																	1	Substitution - Missense(1)	p.S675L(1)	NS(1)	NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(2053-2100)tcctcgtgctacagcacgtcctgctacagcagctcgtgctacagcgcc>tcc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1																																				SO:0001651	inframe_deletion	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484825_43484869delCCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2054_2098delCCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	7.37:g.43484825_43484869delCCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	ENSP00000379228:p.Ser686_Ala700del	False	False		Somatic	1				HECW1_ENST00000395891.1_In_Frame_Del_p.SCYSTSCYSSSCYSA686del	p.SCYSTSCYSSSCYSA686del			WXS	Illumina HiSeq	Phase_I	Q76N89	HECW1_HUMAN			10	2378_2422	+			686			Cys-rich.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	In_Frame_Del	DEL	ENST00000395891.2	37	c.2054_2098delCCTCGTGCTACAGCACGTCCTGCTACAGCAGCTCGTGCTACAGCG	CCDS5469.2																																																																																				0.657	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	0	NM_015052		7:43484825
ZAN	7455	broad.mit.edu	37	7	100385562	100385596	+	RNA	DEL	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	-	rs549519838|rs369526619|rs112538235|rs373952854|rs113714278|rs72364644|rs59541653	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	-	-	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	ENST00000348028.3	+	0	7195_7229				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACATTTGACGGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATGTTCTGATCA	0.583														1187	0.237021	0.1029	0.2752	5008	,	,		26483	0.0327		0.5388	False		,,,				2504	0.2914					ENST00000349350.6		NA																	0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)			,	590,3208		88,414,1397					,	-3.1	0.0		dbSNP_130	52	3589,4247		975,1639,1304	no	frameshift,frameshift	ZAN	NM_173059.1,NM_003386.1	,	1063,2053,2701	A1A1,A1R,RR		45.8014,15.5345,35.9206	,	,		4179,7455						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT		False	False		Somatic	1				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA				WXS	Illumina HiSeq	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7195_7229	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		NA					A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.583	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	NM_003386		7:100385562
CHIAP2	149620	broad.mit.edu	37	1	111824378	111824378	+	RNA	SNP	A	A	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:111824378A>C	ENST00000369743.4	+	0	262					NR_003928.1				chitinase, acidic pseudogene 2																		AAAACAAGTAAATGACGGAAA	0.418																																						ENST00000369743.4		NA																	0					NA																																														0							g.chr1:111824378A>C			1p13.2	2012-10-11			ENSG00000203878	ENSG00000203878			44463	pseudogene	pseudogene							Standard	NR_003928		Approved		uc009wgb.3		OTTHUMG00000012173		1.37:g.111824378A>C		True	False		Somatic	0						NR_003928.1		WXS	Illumina HiSeq	Phase_I					0	262	+			NA						RNA	SNP	ENST00000369743.4	37																																																																																						0.418	CHIAP2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000033667.3	0			1:111824378
IFNL2	282616	broad.mit.edu	37	19	39760163	39760163	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:39760163G>A	ENST00000331982.5	+	4	361	c.306G>A	c.(304-306)ctG>ctA	p.L102L		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	102					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											AGGCTGAGCTGGCCCTGACGC	0.632																																						ENST00000331982.5		NA																	0					NA						c.(304-306)ctG>ctA		interferon, lambda 2							41.0	46.0	44.0					19																	39760163		2203	4300	6503	SO:0001819	synonymous_variant	282616							g.chr19:39760163G>A	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.306G>A	19.37:g.39760163G>A		False	False		Somatic	0					p.L102L	NM_172138.1	NP_742150.1	WXS	Illumina HiSeq	Phase_I					4	361	+			NA					Q45KQ8|Q6VN55|Q8IWL7	Silent	SNP	ENST00000331982.5	37	c.306G>A	CCDS42567.1																																																																																				0.632	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	0	NM_172138		19:39760163
ALDH1L1	10840	broad.mit.edu	37	3	125876347	125876347	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:125876347G>C	ENST00000393434.2	-	4	716	c.367C>G	c.(367-369)Ctc>Gtc	p.L123V	ALDH1L1_ENST00000455064.2_5'UTR|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L123V|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L133V|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L123V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	123	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGTGAATGAGGGTCCTAGGA	0.597																																						ENST00000393434.2		NA																	0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(367-369)Ctc>Gtc		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						85.0	88.0	87.0					3																	125876347		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125876347G>C	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.367C>G	3.37:g.125876347G>C	ENSP00000377083:p.Leu123Val	True	False		Somatic	0				ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L133V|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L123V|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L123V	p.L123V	NM_012190.3	NP_036322.2	WXS	Illumina HiSeq	Phase_I	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	4	716	-			123			GART.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.367C>G	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953044	0.73902	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356	T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.39	4.39	0.52855	Formyl transferase, N-terminal (3);	0.000000	0.64402	D	0.000002	D	0.86289	0.5897	L	0.55481	1.735	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.68353	0.957;0.951;0.957	D	0.87817	0.2635	10	0.87932	D	0	.	14.4889	0.67637	0.0:0.0:1.0:0.0	.	175;30;123	Q59G10;Q9UFA9;O75891	.;.;AL1L1_HUMAN	V	133;123;123;123;123;123;123	ENSP00000273450:L133V;ENSP00000420293:L123V;ENSP00000377083:L123V;ENSP00000377081:L123V;ENSP00000418711:L123V;ENSP00000419826:L123V;ENSP00000419955:L123V	ENSP00000273450:L133V	L	-	1	0	ALDH1L1	127359037	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	5.858000	0.69532	2.277000	0.76020	0.467000	0.42956	CTC		0.597	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	0	NM_012190		3:125876347
PSME4	23198	broad.mit.edu	37	2	54133986	54133986	+	Missense_Mutation	SNP	T	T	C	rs183190432		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:54133986T>C	ENST00000404125.1	-	25	2859	c.2804A>G	c.(2803-2805)cAt>cGt	p.H935R	PSME4_ENST00000421748.2_Missense_Mutation_p.H79R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	935					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGCTCTGATATGTTGTTTTTT	0.323													T|||	1	0.000199681	0.0	0.0014	5008	,	,		20091	0.0		0.0	False		,,,				2504	0.0					ENST00000404125.1		NA																	0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(2803-2805)cAt>cGt		proteasome (prosome, macropain) activator subunit 4							68.0	67.0	67.0					2																	54133986		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54133986T>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2804A>G	2.37:g.54133986T>C	ENSP00000384211:p.His935Arg	False	False		Somatic	0				PSME4_ENST00000421748.2_Missense_Mutation_p.H79R	p.H935R	NM_014614.2	NP_055429.2	WXS	Illumina HiSeq	Phase_I	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		25	2859	-			935					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.2804A>G	CCDS33197.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	15.37	2.813146	0.50527	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.10960	2.82;2.82	5.45	5.45	0.79879	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.46947	1.48	0.80722	D	1	P;D;B	0.89917	0.669;1.0;0.287	B;D;B	0.74674	0.122;0.984;0.057	T	0.01266	-1.1401	10	0.25106	T	0.35	.	15.8205	0.78638	0.0:0.0:0.0:1.0	.	310;79;935	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	R	79;935	ENSP00000410830:H79R;ENSP00000384211:H935R	ENSP00000384211:H935R	H	-	2	0	PSME4	53987490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.201000	0.70794	0.533000	0.62120	CAT		0.323	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	0	XM_040158		2:54133986
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	T	C	rs376234691		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:18887699T>C	ENST00000446231.2	-	13	2049	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_ENST00000565224.1_Missense_Mutation_p.H520R|SMG1_ENST00000389467.3_Missense_Mutation_p.H546R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	546	Interaction with SMG8 and SMG9.		H -> R. {ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H542R(2)|p.H546R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAAACAGCATGGGCTACAGC	0.333																																						ENST00000446231.2		NA																	3	Substitution - Missense(3)	p.H542R(2)|p.H546R(1)	kidney(2)|skin(1)	NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(1636-1638)cAt>cGt		SMG1 phosphatidylinositol 3-kinase-related kinase							16.0	14.0	14.0					16																	18887699		1793	4006	5799	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18887699T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1637A>G	16.37:g.18887699T>C	ENSP00000402515:p.His546Arg	True	False		Somatic	0				SMG1_ENST00000565224.1_Missense_Mutation_p.H520R|SMG1_ENST00000389467.3_Missense_Mutation_p.H546R	p.H546R			WXS	Illumina HiSeq	Phase_I	Q96Q15	SMG1_HUMAN			13	2049	-			546		H -> R.	Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.1637A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550408	0.45383	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01076	5.37;5.37	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.64402	U	0.000003	T	0.01124	0.0037	N	0.24115	0.695	0.38158	D	0.938958	B	0.26445	0.149	B	0.24541	0.054	T	0.66618	-0.5878	10	0.25106	T	0.35	.	11.8709	0.52519	0.1306:0.0:0.0:0.8694	.	546	Q96Q15	SMG1_HUMAN	R	546	ENSP00000402515:H546R;ENSP00000374118:H546R	ENSP00000374118:H546R	H	-	2	0	SMG1	18795200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.089000	0.57685	2.073000	0.62155	0.402000	0.26972	CAT		0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	0	NM_015092		16:18887699
ZNF629	23361	broad.mit.edu	37	16	30793072	30793072	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:30793072G>A	ENST00000262525.4	-	3	2784	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	859					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGCTCCTATGGAGCAGGAGGG	0.572																																						ENST00000262525.4		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2575-2577)ctC>ctT		zinc finger protein 629							33.0	36.0	35.0					16																	30793072		1841	4100	5941	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793072G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2577C>T	16.37:g.30793072G>A		False	False		Somatic	0					p.L859L	NM_001080417.1	NP_001073886.1	WXS	Illumina HiSeq	Phase_I	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2784	-			859					Q15938	Silent	SNP	ENST00000262525.4	37	c.2577C>T	CCDS45463.1																																																																																				0.572	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	0	NM_015309		16:30793072
CPO	130749	broad.mit.edu	37	2	207827279	207827279	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:207827279C>A	ENST00000272852.3	+	7	764	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	240						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTCTTATGGGCAGTTAATTCT	0.458																																						ENST00000272852.3		NA																	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(718-720)Cag>Aag		carboxypeptidase O							200.0	187.0	192.0					2																	207827279		2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207827279C>A		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.718C>A	2.37:g.207827279C>A	ENSP00000272852:p.Gln240Lys	True	False		Somatic	0					p.Q240K	NM_173077.2	NP_775100.1	WXS	Illumina HiSeq	Phase_I	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	7	764	+			240					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.718C>A	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667939	0.88348	.	.	ENSG00000144410	ENST00000272852	T	0.33654	1.4	5.5	5.5	0.81552	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.89095	3.005	0.49582	D	0.999805	D	0.76494	0.999	D	0.87578	0.998	T	0.72574	-0.4252	10	0.87932	D	0	.	16.9428	0.86222	0.0:1.0:0.0:0.0	.	240	Q8IVL8	CBPO_HUMAN	K	240	ENSP00000272852:Q240K	ENSP00000272852:Q240K	Q	+	1	0	CPO	207535524	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.009000	0.76347	2.868000	0.98415	0.555000	0.69702	CAG		0.458	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	0	NM_173077		2:207827279
FAM180A	389558	broad.mit.edu	37	7	135418752	135418752	+	Missense_Mutation	SNP	G	G	A	rs554135792		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:135418752G>A	ENST00000338588.3	-	3	758	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	165						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TGTGAGGAGCGCATCAAGTCG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		20056	0.0		0.0	False		,,,				2504	0.001					ENST00000338588.3		NA																	0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						c.(493-495)Cgc>Tgc		family with sequence similarity 180, member A							67.0	59.0	62.0					7																	135418752		2203	4300	6503	SO:0001583	missense	389558					extracellular region		g.chr7:135418752G>A	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.493C>T	7.37:g.135418752G>A	ENSP00000342336:p.Arg165Cys	False	False		Somatic	0				FAM180A_ENST00000415751.1_Missense_Mutation_p.R165C|FAM180A_ENST00000435869.1_Intron	p.R165C	NM_205855.3	NP_995327.1	WXS	Illumina HiSeq	Phase_I	Q6UWF9	F180A_HUMAN			3	758	-			165					B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	c.493C>T	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803009	0.70682	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.32753	1.44;1.44	5.65	3.64	0.41730	.	0.844010	0.10623	N	0.653115	T	0.40398	0.1115	L	0.44542	1.39	0.41549	D	0.988564	D	0.65815	0.995	P	0.53861	0.736	T	0.26326	-1.0106	10	0.72032	D	0.01	-22.9136	12.1672	0.54138	0.0:0.0:0.6799:0.3201	.	165	Q6UWF9	F180A_HUMAN	C	165	ENSP00000342336:R165C;ENSP00000395467:R165C	ENSP00000342336:R165C	R	-	1	0	FAM180A	135069292	0.904000	0.30761	0.945000	0.38365	0.922000	0.55478	1.270000	0.33086	1.375000	0.46248	0.561000	0.74099	CGC		0.597	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	0	NM_205855		7:135418752
EPB41L3	23136	broad.mit.edu	37	18	5398076	5398076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:5398076G>A	ENST00000341928.2	-	17	2756	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	806	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTGGTTTTCGCGCAGACTCT	0.453																																						ENST00000341928.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2416-2418)Cga>Tga		erythrocyte membrane protein band 4.1-like 3							225.0	231.0	229.0					18																	5398076		2203	4300	6503	SO:0001587	stop_gained	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5398076G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2416C>T	18.37:g.5398076G>A	ENSP00000343158:p.Arg806*	False	False		Somatic	0				EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R806*|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.R103*|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R637*|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.R111*	p.R806*	NM_012307.2	NP_036439.2	WXS	Illumina HiSeq	Phase_I	Q9Y2J2	E41L3_HUMAN			17	2756	-			806			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	c.2416C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	40	8.140571	0.98672	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	.	.	.	6.17	2.8	0.32819	.	0.352659	0.33477	N	0.004861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8014	0.78456	0.0:0.0:0.1619:0.8381	.	.	.	.	X	806;637;103;111;806	.	ENSP00000343158:R806X	R	-	1	2	EPB41L3	5388076	0.996000	0.38824	0.129000	0.21949	0.981000	0.71138	3.424000	0.52764	0.287000	0.22375	0.655000	0.94253	CGA		0.453	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	0	NM_012307		18:5398076
MUC2	4583	broad.mit.edu	37	11	1077612	1077612	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr11:1077612A>T	ENST00000441003.2	+	3	389	c.362A>T	c.(361-363)cAc>cTc	p.H121L	MUC2_ENST00000359061.5_Missense_Mutation_p.H121L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	121	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCACCCCGCACTACAGCCCC	0.682																																						ENST00000441003.2		NA																	0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(361-363)cAc>cTc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						27.0	33.0	31.0					11																	1077612		1953	4123	6076	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1077612A>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.362A>T	11.37:g.1077612A>T	ENSP00000415183:p.His121Leu	False	False		Somatic	0				MUC2_ENST00000359061.5_Missense_Mutation_p.H121L	p.H121L	NM_002457.2	NP_002448.2	WXS	Illumina HiSeq	Phase_I	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	389	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	121			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.362A>T		.	.	.	.	.	.	.	.	.	.	A	8.945	0.966802	0.18659	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.56776	0.44;0.44	3.52	2.34	0.29019	.	0.298471	0.27185	U	0.020528	T	0.55513	0.1925	L	0.51422	1.61	0.26066	N	0.981282	B	0.26195	0.144	B	0.43360	0.417	T	0.57579	-0.7787	10	0.62326	D	0.03	.	9.8992	0.41338	0.8285:0.1715:0.0:0.0	.	121	E7EUV1	.	L	121	ENSP00000415183:H121L;ENSP00000351956:H121L	ENSP00000351956:H121L	H	+	2	0	MUC2	1067612	1.000000	0.71417	0.876000	0.34364	0.336000	0.28762	5.272000	0.65559	0.388000	0.25054	0.334000	0.21626	CAC		0.682	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	0	NM_002457		11:1077612
OR2A5	393046	broad.mit.edu	37	7	143747854	143747854	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:143747854C>T	ENST00000408906.2	+	1	394	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGATGTCCTACGATCGGTACA	0.468																																						ENST00000408906.2		NA																	0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(358-360)taC>taT		olfactory receptor, family 2, subfamily A, member 5							176.0	176.0	176.0					7																	143747854		2106	4248	6354	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747854C>T	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.360C>T	7.37:g.143747854C>T		False	False		Somatic	0					p.Y120Y	NM_012365.1	NP_036497.1	WXS	Illumina HiSeq	Phase_I	Q96R48	OR2A5_HUMAN			1	394	+	Melanoma(164;0.0783)		120					B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.360C>T	CCDS43668.1																																																																																				0.468	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1	0			7:143747854
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716																																						ENST00000296358.4		NA																	2	Substitution - coding silent(2)	p.R122R(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(364-366)cgC>cgT		otopetrin 1							5.0	6.0	6.0					4																	4228226		1619	3562	5181	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228226G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.366C>T	4.37:g.4228226G>A		False	False		Somatic	0					p.R122R	NM_177998.1	NP_819056.1	WXS	Illumina HiSeq	Phase_I	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	390	-			122					A1L476	Silent	SNP	ENST00000296358.4	37	c.366C>T	CCDS3372.1																																																																																				0.716	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	0	NM_177998		4:4228226
SPECC1L	23384	broad.mit.edu	37	22	24717438	24717438	+	Missense_Mutation	SNP	G	G	A	rs200866362		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:24717438G>A	ENST00000314328.9	+	5	775	c.490G>A	c.(490-492)Gtt>Att	p.V164I	SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.V164I|SPECC1L_ENST00000541492.1_Missense_Mutation_p.V164I|SPECC1L_ENST00000437398.1_Missense_Mutation_p.V164I|SPECC1L_ENST00000416735.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	164					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGAATGTGACGTTCGTATGAG	0.478																																						ENST00000314328.9		NA																	0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(490-492)Gtt>Att		sperm antigen with calponin homology and coiled-coil domains 1-like							106.0	96.0	100.0					22																	24717438		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24717438G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.490G>A	22.37:g.24717438G>A	ENSP00000325785:p.Val164Ile	False	False		Somatic	0				SPECC1L_ENST00000437398.1_Missense_Mutation_p.V164I|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.V164I|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.V164I	p.V164I	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	WXS	Illumina HiSeq	Phase_I	Q69YQ0	CYTSA_HUMAN			5	775	+			164					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.490G>A	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	5.588	0.293367	0.10567	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492;ENST00000440893	T;T;T;T;T	0.59224	0.28;2.77;0.28;3.29;0.97	5.72	2.48	0.30137	.	0.355674	0.31051	N	0.008356	T	0.34048	0.0884	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14924	-1.0455	10	0.22109	T	0.4	-8.1952	7.4816	0.27408	0.3615:0.0:0.6385:0.0	.	164;164	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	I	192;164;164;164;164;103	ENSP00000393363:V164I;ENSP00000405671:V164I;ENSP00000325785:V164I;ENSP00000439633:V164I;ENSP00000414354:V103I	ENSP00000325785:V164I	V	+	1	0	SPECC1L	23047438	0.128000	0.22383	0.202000	0.23494	0.790000	0.44656	0.605000	0.24179	0.346000	0.23899	-0.145000	0.13849	GTT		0.478	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	0	NM_015330		22:24717438
WNT7B	7477	broad.mit.edu	37	22	46327243	46327243	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr22:46327243C>T	ENST00000339464.4	-	3	679	c.305G>A	c.(304-306)cGt>cAt	p.R102H	WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H|WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	102					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCCTCACGGCTCCCTGC	0.701																																						ENST00000339464.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(304-306)cGt>cAt		wingless-type MMTV integration site family, member 7B							18.0	18.0	18.0					22																	46327243		2201	4298	6499	SO:0001583	missense	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46327243C>T	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.305G>A	22.37:g.46327243C>T	ENSP00000341032:p.Arg102His	False	False		Somatic	0				WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H|WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H	p.R102H	NM_058238.2	NP_478679.1	WXS	Illumina HiSeq	Phase_I	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	3	679	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	102					B8A596|Q96Q12	Missense_Mutation	SNP	ENST00000339464.4	37	c.305G>A	CCDS33667.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.061673	0.76187	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	3.34	3.34	0.38264	.	0.000000	0.64402	U	0.000001	D	0.91536	0.7327	H	0.95982	3.75	0.51767	D	0.99993	D;D	0.63880	0.977;0.993	P;P	0.62491	0.839;0.903	D	0.94130	0.7387	10	0.87932	D	0	.	13.8568	0.63531	0.0:1.0:0.0:0.0	.	106;102	A8K0G1;P56706	.;WNT7B_HUMAN	H	102;86;106;102;35	ENSP00000341032:R102H;ENSP00000386781:R86H;ENSP00000386546:R106H;ENSP00000387217:R102H;ENSP00000392750:R35H	ENSP00000341032:R102H	R	-	2	0	WNT7B	44705907	1.000000	0.71417	0.860000	0.33809	0.904000	0.53231	4.484000	0.60271	1.709000	0.51313	0.461000	0.40582	CGT		0.701	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	0	NM_058238		22:46327243
NLRP12	91662	broad.mit.edu	37	19	54327405	54327405	+	Silent	SNP	G	G	A	rs577507616		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:54327405G>A	ENST00000324134.6	-	1	192	c.24C>T	c.(22-24)gaC>gaT	p.D8D	NLRP12_ENST00000391773.1_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D|NLRP12_ENST00000391775.3_Silent_p.D8D|NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000535162.1_Silent_p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	8	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.D8E(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACAGAGGCCGTCCCTGCCTG	0.612																																						ENST00000324134.6		NA																	1	Substitution - Missense(1)	p.D8E(1)	lung(1)	NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(22-24)gaC>gaT		NLR family, pyrin domain containing 12							43.0	42.0	42.0					19																	54327405		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54327405G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.24C>T	19.37:g.54327405G>A		False	False		Somatic	0				NLRP12_ENST00000391775.3_Silent_p.D8D|NLRP12_ENST00000535162.1_Silent_p.D8D|NLRP12_ENST00000345770.5_Silent_p.D8D|NLRP12_ENST00000391772.1_Silent_p.D8D|NLRP12_ENST00000354278.3_Silent_p.D8D|NLRP12_ENST00000351894.4_Silent_p.D8D|NLRP12_ENST00000391773.1_Silent_p.D8D	p.D8D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	WXS	Illumina HiSeq	Phase_I	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	1	192	-	Ovarian(34;0.19)		8			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.24C>T	CCDS12864.1																																																																																				0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	0	NM_144687		19:54327405
ADAMTS12	81792	broad.mit.edu	37	5	33577113	33577113	+	Missense_Mutation	SNP	G	G	C			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:33577113G>C	ENST00000504830.1	-	19	3353	c.3018C>G	c.(3016-3018)aaC>aaG	p.N1006K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N921K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1006	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTGCCTTTGTTTGGTTTCA	0.527										HNSCC(64;0.19)																												ENST00000504830.1		NA																	0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3016-3018)aaC>aaG		ADAM metallopeptidase with thrombospondin type 1 motif, 12							159.0	155.0	156.0					5																	33577113		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33577113G>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3018C>G	5.37:g.33577113G>C	ENSP00000422554:p.Asn1006Lys	True	False	HNSCC(64;0.19)	Somatic	0				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N921K	p.N1006K	NM_030955.2	NP_112217.2	WXS	Illumina HiSeq	Phase_I	P58397	ATS12_HUMAN			19	3353	-			1006			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3018C>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.144819	0.01714	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.57595	0.39;0.39	5.14	-1.12	0.09808	.	0.672497	0.16125	N	0.228476	T	0.27832	0.0685	N	0.20986	0.625	0.58432	D	0.99999	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.001	T	0.08330	-1.0727	10	0.28530	T	0.3	.	0.6749	0.00865	0.3625:0.1167:0.2841:0.2367	.	921;1006	P58397-3;P58397	.;ATS12_HUMAN	K	1006;921	ENSP00000422554:N1006K;ENSP00000344847:N921K	ENSP00000344847:N921K	N	-	3	2	ADAMTS12	33612870	0.392000	0.25229	0.567000	0.28434	0.205000	0.24178	0.075000	0.14686	0.061000	0.16311	0.655000	0.94253	AAC		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	0	NM_030955		5:33577113
ATP5G3	518	broad.mit.edu	37	2	176044902	176044902	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr2:176044902C>A	ENST00000284727.4	-	3	3068	c.44G>T	c.(43-45)cGa>cTa	p.R15L	ATP5G3_ENST00000392541.3_Missense_Mutation_p.R15L|ATP5G3_ENST00000409194.1_Missense_Mutation_p.R15L	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	15					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			GGATCCAGCTCGGATCTATTA	0.343																																					GBM(30;387 605 18606 28805 47989)	ENST00000284727.4		NA																	0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(43-45)cGa>cTa		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)							85.0	84.0	85.0					2																	176044902		2203	4300	6503	SO:0001583	missense	518				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	g.chr2:176044902C>A	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.44G>T	2.37:g.176044902C>A	ENSP00000284727:p.Arg15Leu	False	False		Somatic	0				ATP5G3_ENST00000392541.3_Missense_Mutation_p.R15L|ATP5G3_ENST00000409194.1_Missense_Mutation_p.R15L	p.R15L	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	WXS	Illumina HiSeq	Phase_I	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)		3	3068	-			15					B2R4Z0|D3DPF0|Q4ZFX7	Missense_Mutation	SNP	ENST00000284727.4	37	c.44G>T	CCDS2263.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865255	0.91511	.	.	ENSG00000154518	ENST00000284727;ENST00000409194;ENST00000392541	T;T;T	0.24151	1.87;1.87;1.87	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.58925	1.835	0.80722	D	1	D	0.64830	0.994	P	0.57679	0.825	T	0.15292	-1.0442	10	0.41790	T	0.15	0.9783	19.332	0.94295	0.0:1.0:0.0:0.0	.	15	P48201	AT5G3_HUMAN	L	15	ENSP00000284727:R15L;ENSP00000387317:R15L;ENSP00000376324:R15L	ENSP00000284727:R15L	R	-	2	0	ATP5G3	175753148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.252000	0.78309	2.652000	0.90054	0.563000	0.77884	CGA		0.343	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	0	NM_001689		2:176044902
SHANK1	50944	broad.mit.edu	37	19	51189519	51189519	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:51189519C>T	ENST00000293441.1	-	20	2570	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	SHANK1_ENST00000391813.1_Missense_Mutation_p.R238Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.R859Q|SHANK1_ENST00000359082.3_Missense_Mutation_p.R842Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	851					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTTTGGGTCGGTGTTTGCC	0.612																																						ENST00000293441.1		NA																	0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2551-2553)cGa>cAa		SH3 and multiple ankyrin repeat domains 1							78.0	68.0	71.0					19																	51189519		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51189519C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2552G>A	19.37:g.51189519C>T	ENSP00000293441:p.Arg851Gln	False	False		Somatic	0				SHANK1_ENST00000359082.3_Missense_Mutation_p.R842Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.R859Q|SHANK1_ENST00000391813.1_Missense_Mutation_p.R238Q	p.R851Q	NM_016148.2	NP_057232.2	WXS	Illumina HiSeq	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	20	2570	-		all_neural(266;0.057)	851					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2552G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081563	0.76528	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	3.91	3.91	0.45181	.	0.121407	0.31381	U	0.007749	T	0.62816	0.2459	M	0.75615	2.305	0.45914	D	0.998753	D;D	0.89917	0.99;1.0	B;D	0.81914	0.34;0.995	T	0.64449	-0.6405	10	0.39692	T	0.17	-10.4541	15.2111	0.73225	0.0:1.0:0.0:0.0	.	851;238	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	Q	851;238;842;859	ENSP00000293441:R851Q;ENSP00000375689:R238Q;ENSP00000351984:R842Q;ENSP00000375690:R859Q	ENSP00000293441:R851Q	R	-	2	0	SHANK1	55881331	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.717000	0.68446	2.211000	0.71520	0.478000	0.44815	CGA		0.612	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	0	NM_016148		19:51189519
MAST4	375449	broad.mit.edu	37	5	66462696	66462696	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:66462696G>T	ENST00000403625.2	+	29	7984	c.7689G>T	c.(7687-7689)aaG>aaT	p.K2563N	MAST4_ENST00000405643.1_Missense_Mutation_p.K2384N|MAST4_ENST00000261569.7_Missense_Mutation_p.K2369N|MAST4_ENST00000404260.3_Missense_Mutation_p.K2566N|MAST4_ENST00000403666.1_Missense_Mutation_p.K2374N	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2566						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAAAGGGAAGGACCCTGCCC	0.652																																						ENST00000404260.3		NA																	0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(7696-7698)aaG>aaT		microtubule associated serine/threonine kinase family member 4							17.0	23.0	21.0					5																	66462696		1991	4154	6145	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462696G>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7689G>T	5.37:g.66462696G>T	ENSP00000385727:p.Lys2563Asn	False	False		Somatic	0				MAST4_ENST00000405643.1_Missense_Mutation_p.K2384N|MAST4_ENST00000403666.1_Missense_Mutation_p.K2374N|MAST4_ENST00000261569.7_Missense_Mutation_p.K2369N|MAST4_ENST00000403625.2_Missense_Mutation_p.K2563N	p.K2566N			WXS	Illumina HiSeq	Phase_I	O15021	MAST4_HUMAN		Lung(70;0.011)	29	8006	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2566					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.7698G>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.29|12.29	1.892169|1.892169	0.33442|0.33442	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.69435	.|-0.38;-0.38;-0.4;-0.4;-0.38	4.96|4.96	-0.072|-0.072	0.13741|0.13741	.|.	.|0.524558	.|0.17486	.|N	.|0.172521	.|T	.|0.48537	.|0.1505	L|L	0.32530|0.32530	0.975|0.975	0.24930|0.24930	N|N	0.991929|0.991929	.|P;P	.|0.42692	.|0.682;0.787	.|B;B	.|0.39258	.|0.154;0.295	.|T	.|0.44726	.|-0.9309	.|10	.|0.87932	.|D	.|0	-7.2859|-7.2859	4.9971|4.9971	0.14245|0.14245	0.5799:0.149:0.271:0.0|0.5799:0.149:0.271:0.0	.|.	.|2566;2374	.|O15021;O15021-3	.|MAST4_HUMAN;.	X|N	1620|2566;2563;2374;2384;2384;2369	.|ENSP00000385048:K2566N;ENSP00000385727:K2563N;ENSP00000384313:K2374N;ENSP00000384099:K2384N;ENSP00000261569:K2369N	.|ENSP00000261569:K2369N	G|K	+|+	1|3	0|2	MAST4|MAST4	66498452|66498452	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.396000|0.396000	0.30629|0.30629	0.740000|0.740000	0.26188|0.26188	0.102000|0.102000	0.17638|0.17638	0.561000|0.561000	0.74099|0.74099	GGA|AAG		0.652	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	0			5:66462696
ENOX1	55068	broad.mit.edu	37	13	43934128	43934128	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr13:43934128G>A	ENST00000261488.6	-	7	1025	c.448C>T	c.(448-450)Cca>Tca	p.P150S	ENOX1_ENST00000540032.1_5'UTR|ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.P150S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	150	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCATTTTCTGGTAATCCTCCG	0.388																																						ENST00000261488.6		NA																	0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(448-450)Cca>Tca		ecto-NOX disulfide-thiol exchanger 1							88.0	82.0	84.0					13																	43934128		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43934128G>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.448C>T	13.37:g.43934128G>A	ENSP00000261488:p.Pro150Ser	False	False		Somatic	0				ENOX1_ENST00000540032.1_5'UTR|ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.P150S	p.P150S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	WXS	Illumina HiSeq	Phase_I	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	7	1025	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	150			RRM.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.448C>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612841	0.87258	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.78003	-1.14;-1.14	5.89	5.89	0.94794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85213	0.1022	10	0.66056	D	0.02	2.8841	20.248	0.98401	0.0:0.0:1.0:0.0	.	150	Q8TC92	ENOX1_HUMAN	S	150	ENSP00000261488:P150S;ENSP00000415054:P150S	ENSP00000261488:P150S	P	-	1	0	ENOX1	42832128	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.414000	0.97362	2.790000	0.95986	0.655000	0.94253	CCA		0.388	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	0	NM_017993		13:43934128
MAST4	375449	broad.mit.edu	37	5	66462697	66462697	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:66462697G>T	ENST00000403625.2	+	29	7985	c.7690G>T	c.(7690-7692)Gac>Tac	p.D2564Y	MAST4_ENST00000405643.1_Missense_Mutation_p.D2385Y|MAST4_ENST00000261569.7_Missense_Mutation_p.D2370Y|MAST4_ENST00000404260.3_Missense_Mutation_p.D2567Y|MAST4_ENST00000403666.1_Missense_Mutation_p.D2375Y	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2567						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAAAGGGAAGGACCCTGCCCC	0.647																																						ENST00000404260.3		NA																	0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(7699-7701)Gac>Tac		microtubule associated serine/threonine kinase family member 4							17.0	23.0	21.0					5																	66462697		1993	4153	6146	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66462697G>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.7690G>T	5.37:g.66462697G>T	ENSP00000385727:p.Asp2564Tyr	False	False		Somatic	0				MAST4_ENST00000405643.1_Missense_Mutation_p.D2385Y|MAST4_ENST00000403666.1_Missense_Mutation_p.D2375Y|MAST4_ENST00000261569.7_Missense_Mutation_p.D2370Y|MAST4_ENST00000403625.2_Missense_Mutation_p.D2564Y	p.D2567Y			WXS	Illumina HiSeq	Phase_I	O15021	MAST4_HUMAN		Lung(70;0.011)	29	8007	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2567					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.7699G>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.43|14.43	2.533575|2.533575	0.45073|0.45073	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.67698|.	-0.26;-0.26;-0.28;-0.27;-0.25|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.511218|.	0.18007|.	N|.	0.154702|.	T|T	0.39627|0.39627	0.1085|0.1085	N|N	0.14661|0.14661	0.345|0.345	0.32109|0.32109	N|N	0.58962|0.58962	P;P|.	0.52692|.	0.924;0.955|.	P;P|.	0.54312|.	0.564;0.748|.	T|T	0.41627|0.41627	-0.9498|-0.9498	10|5	0.87932|.	D|.	0|.	-10.3885|-10.3885	16.9304|16.9304	0.86189|0.86189	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2567;2375|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	Y|V	2567;2564;2375;2385;2385;2370|1620	ENSP00000385048:D2567Y;ENSP00000385727:D2564Y;ENSP00000384313:D2375Y;ENSP00000384099:D2385Y;ENSP00000261569:D2370Y|.	ENSP00000261569:D2370Y|.	D|G	+|+	1|2	0|0	MAST4|MAST4	66498453|66498453	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.398000|0.398000	0.30690|0.30690	2.887000|2.887000	0.48586|0.48586	2.734000|2.734000	0.93682|0.93682	0.561000|0.561000	0.74099|0.74099	GAC|GGA		0.647	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	0			5:66462697
NEK9	91754	broad.mit.edu	37	14	75590766	75590766	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:75590766T>G	ENST00000238616.5	-	2	538	c.380A>C	c.(379-381)gAg>gCg	p.E127A		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	127	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ATATTCCAGCTCAATCAGCAG	0.408																																						ENST00000238616.5		NA																	0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(379-381)gAg>gCg		NIMA-related kinase 9							166.0	150.0	155.0					14																	75590766		2203	4300	6503	SO:0001583	missense	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75590766T>G	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.380A>C	14.37:g.75590766T>G	ENSP00000238616:p.Glu127Ala	False	False		Somatic	0					p.E127A	NM_033116.4	NP_149107.4	WXS	Illumina HiSeq	Phase_I	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	2	538	-			127			Protein kinase.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	c.380A>C	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550313	0.86127	.	.	ENSG00000119638	ENST00000238616;ENST00000540227;ENST00000557673;ENST00000553823	T;T;T	0.63913	1.94;-0.07;0.86	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	N	0.04373	-0.215	0.80722	D	1	P	0.38729	0.644	P	0.46510	0.519	T	0.52003	-0.8633	10	0.18276	T	0.48	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	127	Q8TD19	NEK9_HUMAN	A	127;109;9;9	ENSP00000238616:E127A;ENSP00000450943:E9A;ENSP00000452537:E9A	ENSP00000238616:E127A	E	-	2	0	NEK9	74660519	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAG		0.408	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	0	NM_033116		14:75590766
LINC00521	256369	broad.mit.edu	37	14	94464479	94464479	+	RNA	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:94464479T>A	ENST00000444118.1	+	0	159					NR_024182.1		Q8NCU1	CN048_HUMAN	long intergenic non-protein coding RNA 521																		GGTGAGGTGATGGCAGCCATG	0.587																																						ENST00000444118.1		NA																	0					NA															79.0	66.0	71.0					14																	94464479		2203	4300	6503			0							g.chr14:94464479T>A	BI463117		14q32.12	2012-10-12	2011-11-29	2011-11-29	ENSG00000175699	ENSG00000175699		"""Long non-coding RNAs"""	19860	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 48"""	C14orf48			Standard	NR_024182		Approved		uc001ycg.1	Q8NCU1	OTTHUMG00000156974		14.37:g.94464479T>A		False	False		Somatic	0						NR_024182.1		WXS	Illumina HiSeq	Phase_I					0	159	+			NA					Q8N7S1	RNA	SNP	ENST00000444118.1	37																																																																																						0.587	LINC00521-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000346916.1	0			14:94464479
IGF2BP2	10644	broad.mit.edu	37	3	185364845	185364845	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:185364845C>T	ENST00000382199.2	-	15	1770	c.1675G>A	c.(1675-1677)Gtc>Atc	p.V559I	IGF2BP2_ENST00000346192.3_Missense_Mutation_p.V516I|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.V565I|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.V502I|IGF2BP2_ENST00000494906.1_5'Flank	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	559	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATAATTCTGACGATCACTTCC	0.507																																						ENST00000382199.2		NA																	0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20						c.(1675-1677)Gtc>Atc		insulin-like growth factor 2 mRNA binding protein 2							215.0	177.0	190.0					3																	185364845		2203	4300	6503	SO:0001583	missense	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185364845C>T	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1675G>A	3.37:g.185364845C>T	ENSP00000371634:p.Val559Ile	False	False		Somatic	0				IGF2BP2_ENST00000457616.2_Missense_Mutation_p.V565I|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.V502I|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.V516I	p.V559I	NM_006548.4	NP_006539.3	WXS	Illumina HiSeq	Phase_I	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		15	1770	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		559			KH 4.		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	c.1675G>A	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	C	33	5.267801	0.95399	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.02	5.02	0.67125	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.059424	0.64402	D	0.000002	T	0.50446	0.1616	L	0.52206	1.635	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.87578	0.977;0.997;0.997;0.997;0.915;0.998	T	0.40739	-0.9547	10	0.39692	T	0.17	-20.9324	17.4755	0.87658	0.0:1.0:0.0:0.0	.	453;496;502;565;516;559	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	I	559;502;565;516	ENSP00000371634:V559I;ENSP00000413787:V502I;ENSP00000410242:V565I;ENSP00000320204:V516I	ENSP00000320204:V516I	V	-	1	0	IGF2BP2	186847539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.499000	0.84300	0.555000	0.69702	GTC		0.507	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	0	NM_006548		3:185364845
PCDHB14	56122	broad.mit.edu	37	5	140604697	140604697	+	Silent	SNP	G	G	A	rs147849897	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:140604697G>A	ENST00000239449.4	+	1	1620	c.1620G>A	c.(1618-1620)gcG>gcA	p.A540A	PCDHB14_ENST00000515856.2_Silent_p.A387A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A540A(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCCCCGGCGTTGAGCAGCG	0.682																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4		NA																	1	Substitution - coding silent(1)	p.A540A(1)	endometrium(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1618-1620)gcG>gcA									48.0	54.0	52.0					5																	140604697		2203	4299	6502	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604697G>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1620G>A	5.37:g.140604697G>A		False	False		Somatic	0				PCDHB14_ENST00000515856.2_Silent_p.A387A	p.A540A	NM_018934.2	NP_061757.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1620	+			540			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1620G>A	CCDS4256.1																																																																																				0.682	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	0	NM_018934		5:140604697
COX4I2	84701	broad.mit.edu	37	20	30232606	30232606	+	Missense_Mutation	SNP	C	C	T	rs200392726	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr20:30232606C>T	ENST00000376075.3	+	5	490	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	139					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GACGGACGAGCGGAAAGCCCA	0.582													T|||	2	0.000399361	0.0	0.0	5008	,	,		18339	0.0		0.0	False		,,,				2504	0.002					ENST00000376075.3		NA																	0				breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11						c.(415-417)Cgg>Tgg		cytochrome c oxidase subunit IV isoform 2 (lung)		T	TRP/ARG	0,4406		0,0,2203	88.0	72.0	77.0		415	0.8	0.3	20		77	1,8599	819.2+/-406.8	0,1,4299	yes	missense	COX4I2	NM_032609.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	139/172	30232606	1,13005	2203	4300	6503	SO:0001583	missense	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30232606C>T	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.415C>T	20.37:g.30232606C>T	ENSP00000365243:p.Arg139Trp	False	False		Somatic	0				COX4I2_ENST00000490030.1_3'UTR	p.R139W	NM_032609.2	NP_115998.2	WXS	Illumina HiSeq	Phase_I	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		5	490	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		139					Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	ENST00000376075.3	37	c.415C>T	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.908787	0.00508	0.0	1.16E-4	ENSG00000131055	ENST00000376075	T	0.44482	0.92	4.38	0.825	0.18824	.	0.358373	0.28182	N	0.016300	T	0.10895	0.0266	N	0.01048	-1.04	0.20307	N	0.999915	B	0.02656	0.0	B	0.01281	0.0	T	0.36335	-0.9752	10	0.02654	T	1	-2.7008	7.3252	0.26551	0.0:0.4506:0.0:0.5494	.	139	Q96KJ9	COX42_HUMAN	W	139	ENSP00000365243:R139W	ENSP00000365243:R139W	R	+	1	2	COX4I2	29696267	0.975000	0.34042	0.349000	0.25694	0.011000	0.07611	1.047000	0.30367	-0.290000	0.09025	-0.817000	0.03123	CGG		0.582	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	0	NM_032609		20:30232606
GABRB3	2562	broad.mit.edu	37	15	26825521	26825521	+	Silent	SNP	C	C	T	rs146431931		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:26825521C>T	ENST00000311550.5	-	6	738	c.627G>A	c.(625-627)ccG>ccA	p.P209P	GABRB3_ENST00000545868.1_Silent_p.P124P|GABRB3_ENST00000541819.2_Silent_p.P265P|GABRB3_ENST00000299267.4_Silent_p.P209P|GABRB3_ENST00000400188.3_Silent_p.P138P	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	209					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGAGAACTGCGGGAGCTCAA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18322	0.0		0.0	False		,,,				2504	0.001					ENST00000541819.2		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(793-795)ccG>ccA		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	C	,,,	0,4406		0,0,2203	131.0	116.0	121.0		627,372,414,627	-10.2	0.7	15	dbSNP_134	121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	209/474,124/389,138/403,209/474	26825521	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26825521C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.627G>A	15.37:g.26825521C>T		True	False		Somatic	0				GABRB3_ENST00000299267.4_Silent_p.P209P|GABRB3_ENST00000545868.1_Silent_p.P124P|GABRB3_ENST00000400188.3_Silent_p.P138P|GABRB3_ENST00000311550.5_Silent_p.P209P	p.P265P			WXS	Illumina HiSeq	Phase_I	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	897	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	209					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.795G>A	CCDS10019.1																																																																																				0.562	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2	0			15:26825521
FAT2	2196	broad.mit.edu	37	5	150945261	150945261	+	Missense_Mutation	SNP	C	C	T	rs142737825	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr5:150945261C>T	ENST00000261800.5	-	1	3244	c.3232G>A	c.(3232-3234)Gca>Aca	p.A1078T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1078	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGGCTGCGAGTCCAGTG	0.597													C|||	3	0.000599042	0.0023	0.0	5008	,	,		11388	0.0		0.0	False		,,,				2504	0.0					ENST00000261800.5		NA																	0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(3232-3234)Gca>Aca		FAT atypical cadherin 2		C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	36.0	37.0	37.0		3232	3.2	0.2	5	dbSNP_134	37	1,8597	1.2+/-3.3	0,1,4298	yes	missense	FAT2	NM_001447.2	58	0,4,6498	TT,TC,CC		0.0116,0.0681,0.0308	benign	1078/4350	150945261	4,13000	2203	4299	6502	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945261C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3232G>A	5.37:g.150945261C>T	ENSP00000261800:p.Ala1078Thr	False	False		Somatic	0					p.A1078T	NM_001447.2	NP_001438.1	WXS	Illumina HiSeq	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	3244	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1078			Cadherin 9.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3232G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537775	0.27475	6.81E-4	1.16E-4	ENSG00000086570	ENST00000261800	T	0.03181	4.02	4.95	3.17	0.36434	Cadherin (4);Cadherin-like (1);	0.434861	0.21480	N	0.073843	T	0.02230	0.0069	N	0.11341	0.13	0.20307	N	0.999912	B	0.18968	0.032	B	0.14023	0.01	T	0.45101	-0.9284	10	0.39692	T	0.17	.	7.2879	0.26350	0.1444:0.7035:0.0:0.1521	.	1078	Q9NYQ8	FAT2_HUMAN	T	1078	ENSP00000261800:A1078T	ENSP00000261800:A1078T	A	-	1	0	FAT2	150925454	0.556000	0.26538	0.248000	0.24265	0.638000	0.38207	1.972000	0.40540	0.608000	0.30000	0.655000	0.94253	GCA		0.597	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	NM_001447		5:150945261
FAM69B	138311	broad.mit.edu	37	9	139620623	139620623	+	IGR	SNP	T	T	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr9:139620623T>G	ENST00000371692.4	+	0	1668				SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000391185.1_RNA|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		AAATCGCCACTTTCTCTTTGC	0.567																																						ENST00000414282.1		NA																	0					NA															48.0	46.0	46.0					9																	139620623		876	1991	2867	SO:0001628	intergenic_variant	0							g.chr9:139620623T>G		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940		9.37:g.139620623T>G		True	False		Somatic	0				SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000436596.1_RNA				WXS	Illumina HiSeq	Phase_I					0	451	-			NA					Q5VUD7|Q8N5N0|Q8WYU5	RNA	SNP	ENST00000371692.4	37		CCDS7004.1																																																																																				0.567	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	0	NM_152421		9:139620623
SMAD4	4089	broad.mit.edu	37	18	48603028	48603028	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr18:48603028T>A	ENST00000342988.3	+	11	1867	c.1329T>A	c.(1327-1329)tgT>tgA	p.C443*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.C443*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.C347*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	443	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGCGTCAGTGTCATCGACAGA	0.453																																						ENST00000342988.3		NA																	39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)	p.0?(36)|p.?(2)|p.R441fs*16(1)	pancreas(27)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1327-1329)tgT>tgA		SMAD family member 4							43.0	44.0	44.0					18																	48603028		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48603028T>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1329T>A	18.37:g.48603028T>A	ENSP00000341551:p.Cys443*	False	False		Somatic	0				SMAD4_ENST00000588745.1_Nonsense_Mutation_p.C347*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.C443*	p.C443*	NM_005359.5	NP_005350.1	WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	11	1867	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	443			MH2.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1329T>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	41	9.134028	0.99077	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.03	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7929	0.52080	0.0:0.0806:0.0:0.9194	.	.	.	.	X	443	.	ENSP00000341551:C443X	C	+	3	2	SMAD4	46857026	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.233000	0.32648	2.308000	0.77769	0.533000	0.62120	TGT		0.453	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48603028
PTPRH	5794	broad.mit.edu	37	19	55711614	55711614	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:55711614G>A	ENST00000376350.3	-	7	1432	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.S292S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	470	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S470S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTGGAGATGCTGACATTCT	0.542																																						ENST00000376350.3		NA																	1	Substitution - coding silent(1)	p.S470S(1)	endometrium(1)	breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1408-1410)agC>agT		protein tyrosine phosphatase, receptor type, H							121.0	103.0	109.0					19																	55711614		2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55711614G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1410C>T	19.37:g.55711614G>A		False	False		Somatic	0				PTPRH_ENST00000263434.5_Silent_p.S292S|PTPRH_ENST00000588559.1_5'UTR	p.S470S	NM_002842.3	NP_002833.3	WXS	Illumina HiSeq	Phase_I	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	7	1432	-		Renal(1328;0.245)	470			Fibronectin type-III 5.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.1410C>T	CCDS33110.1																																																																																				0.542	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1	0			19:55711614
PCDH15	65217	broad.mit.edu	37	10	55826528	55826528	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:55826528C>A	ENST00000320301.6	-	18	2603	c.2209G>T	c.(2209-2211)Ggt>Tgt	p.G737C	PCDH15_ENST00000395445.1_Missense_Mutation_p.G744C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G737C|PCDH15_ENST00000373957.3_Missense_Mutation_p.G715C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G700C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G666C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.G715C|PCDH15_ENST00000409834.1_Missense_Mutation_p.G348C|PCDH15_ENST00000373965.2_Missense_Mutation_p.G744C|PCDH15_ENST00000373955.1_Missense_Mutation_p.G737C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G742C	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	737	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.G742S(2)|p.G737S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTACTTGACCCACAAAGGCA	0.328										HNSCC(58;0.16)																												ENST00000373965.2		NA																	4	Substitution - Missense(4)	p.G742S(2)|p.G737S(2)	lung(4)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2230-2232)Ggt>Tgt		protocadherin-related 15							88.0	83.0	85.0					10																	55826528		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55826528C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2209G>T	10.37:g.55826528C>A	ENSP00000322604:p.Gly737Cys	True	False	HNSCC(58;0.16)	Somatic	0				PCDH15_ENST00000395433.1_Missense_Mutation_p.G715C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G742C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G666C|PCDH15_ENST00000395432.2_Missense_Mutation_p.G700C|PCDH15_ENST00000395445.1_Missense_Mutation_p.G744C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.G715C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G737C|PCDH15_ENST00000373955.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.G348C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G737C|PCDH15_ENST00000320301.6_Missense_Mutation_p.G737C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G737C|PCDH15_ENST00000395442.1_Intron	p.G744C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	WXS	Illumina HiSeq	Phase_I	Q96QU1	PCD15_HUMAN			19	2624	-		Melanoma(3;0.117)|Lung SC(717;0.238)	737			Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2230G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170170	0.78452	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;-0.03;0.58;0.58;0.58;0.58	5.85	5.85	0.93711	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.67249	0.2873	L	0.60067	1.865	0.80722	D	1	B;B;B;B;B;B;B;B;P;B;P;P;B;P;P	0.40553	0.289;0.045;0.186;0.097;0.285;0.045;0.289;0.254;0.529;0.289;0.529;0.529;0.037;0.721;0.529	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44163	0.33;0.071;0.208;0.16;0.232;0.104;0.33;0.35;0.443;0.232;0.33;0.33;0.067;0.32;0.33	T	0.69957	-0.5004	9	0.87932	D	0	.	18.9349	0.92582	0.0:1.0:0.0:0.0	.	715;737;737;742;666;700;737;737;744;744;737;742;737;715;737	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	C	744;742;737;737;348;744;700;737;715;715;737;737;742;666;737	ENSP00000363076:G744C;ENSP00000410304:G742C;ENSP00000378826:G737C;ENSP00000386693:G348C;ENSP00000378832:G744C;ENSP00000378820:G700C;ENSP00000354950:G737C;ENSP00000378821:G715C;ENSP00000363068:G715C;ENSP00000322604:G737C;ENSP00000378818:G737C;ENSP00000412628:G666C;ENSP00000363066:G737C	ENSP00000322604:G737C	G	-	1	0	PCDH15	55496534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.661000	0.61518	2.773000	0.95371	0.655000	0.94253	GGT		0.328	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	0	NM_033056		10:55826528
UBR4	23352	broad.mit.edu	37	1	19477078	19477078	+	Silent	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:19477078G>A	ENST00000375254.3	-	49	7450	c.7423C>T	c.(7423-7425)Ctg>Ttg	p.L2475L	UBR4_ENST00000375217.2_Silent_p.L2475L|UBR4_ENST00000375267.2_Silent_p.L2475L|UBR4_ENST00000375226.2_Silent_p.L2475L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2475					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TACCTCTCCAGGACAGTTCCA	0.522																																						ENST00000375267.2		NA																	0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(7423-7425)Ctg>Ttg		ubiquitin protein ligase E3 component n-recognin 4							79.0	76.0	77.0					1																	19477078		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19477078G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7423C>T	1.37:g.19477078G>A		False	False		Somatic	0				UBR4_ENST00000375254.3_Silent_p.L2475L|UBR4_ENST00000375226.2_Silent_p.L2475L|UBR4_ENST00000375217.2_Silent_p.L2475L	p.L2475L			WXS	Illumina HiSeq	Phase_I	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	49	7426	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2475					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.7423C>T	CCDS189.1																																																																																				0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	0	NM_020765		1:19477078
PDAP1	11333	broad.mit.edu	37	7	98995523	98995523	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr7:98995523C>T	ENST00000350498.3	-	5	729	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	PDAP1_ENST00000496335.1_5'UTR	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	150					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCTCCTCCCGCTGTTTCCG	0.602																																						ENST00000350498.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9						c.(448-450)cGg>cAg		PDGFA associated protein 1	Becaplermin(DB00102)						88.0	83.0	85.0					7																	98995523		2203	4300	6503	SO:0001583	missense	11333				cell proliferation|signal transduction			g.chr7:98995523C>T	U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"""PDGF associated protein"""	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.449G>A	7.37:g.98995523C>T	ENSP00000222968:p.Arg150Gln	True	False		Somatic	0				PDAP1_ENST00000496335.1_5'UTR	p.R150Q	NM_014891.6	NP_055706.1	WXS	Illumina HiSeq	Phase_I	Q13442	HAP28_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	729	-	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		150					D6W5S5|Q92906	Missense_Mutation	SNP	ENST00000350498.3	37	c.449G>A	CCDS5662.1	.	.	.	.	.	.	.	.	.	.	C	37	6.008410	0.97195	.	.	ENSG00000106244	ENST00000350498	.	.	.	5.13	5.13	0.70059	Casein kinase substrate, phosphoprotein PP28 (1);	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	H	0.94808	3.585	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.90785	0.4682	9	0.87932	D	0	-12.552	18.9358	0.92584	0.0:1.0:0.0:0.0	.	150	Q13442	HAP28_HUMAN	Q	150	.	ENSP00000222968:R150Q	R	-	2	0	PDAP1	98833459	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.582000	0.82546	2.553000	0.86117	0.650000	0.86243	CGG		0.602	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	0	NM_014891		7:98995523
ZNF676	163223	broad.mit.edu	37	19	22362994	22362994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr19:22362994C>A	ENST00000397121.2	-	3	1842	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.388																																						ENST00000397121.2		NA																	0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1525-1527)Gaa>Taa		zinc finger protein 676							64.0	68.0	67.0					19																	22362994		2156	4276	6432	SO:0001587	stop_gained	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22362994C>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1525G>T	19.37:g.22362994C>A	ENSP00000380310:p.Glu509*	False	False		Somatic	0					p.E509*	NM_001001411.2	NP_001001411.2	WXS	Illumina HiSeq	Phase_I	Q8N7Q3	ZN676_HUMAN			3	1842	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	509					A8MVX5	Nonsense_Mutation	SNP	ENST00000397121.2	37	c.1525G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.466068	0.84425	.	.	ENSG00000196109	ENST00000397121	.	.	.	0.81	-1.62	0.08372	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.3206	0.26526	0.0:0.7253:0.2747:0.0	.	.	.	.	X	509	.	ENSP00000380310:E509X	E	-	1	0	ZNF676	22154834	0.000000	0.05858	0.086000	0.20670	0.086000	0.17979	-0.518000	0.06267	0.181000	0.19994	0.184000	0.17185	GAA		0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	0	NM_001001411		19:22362994
FLRT2	23768	broad.mit.edu	37	14	86087923	86087923	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr14:86087923T>A	ENST00000330753.4	+	2	832	c.65T>A	c.(64-66)aTt>aAt	p.I22N	FLRT2_ENST00000554746.1_Missense_Mutation_p.I22N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	22					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGCTTATCATTTCCCTGGGG	0.507																																						ENST00000330753.4		NA																	0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(64-66)aTt>aAt		fibronectin leucine rich transmembrane protein 2							80.0	80.0	80.0					14																	86087923		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86087923T>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.65T>A	14.37:g.86087923T>A	ENSP00000332879:p.Ile22Asn	True	False		Somatic	0				FLRT2_ENST00000554746.1_Missense_Mutation_p.I22N	p.I22N	NM_013231.4	NP_037363.1	WXS	Illumina HiSeq	Phase_I	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	832	+			22					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.65T>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856684	0.71834	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.57752	0.38;0.38	5.73	5.73	0.89815	.	0.451624	0.24838	N	0.035191	T	0.39226	0.1070	N	0.14661	0.345	0.39960	D	0.974659	B	0.31790	0.34	B	0.30855	0.121	T	0.45585	-0.9251	10	0.87932	D	0	-1.5983	16.0233	0.80516	0.0:0.0:0.0:1.0	.	22	O43155	FLRT2_HUMAN	N	22	ENSP00000332879:I22N;ENSP00000451050:I22N	ENSP00000332879:I22N	I	+	2	0	FLRT2	85157676	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.988000	0.88194	2.186000	0.69663	0.533000	0.62120	ATT		0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1	0			14:86087923
KIAA0754	643314	broad.mit.edu	37	1	39878506	39878506	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:39878506G>T	ENST00000530275.1	+	1	2356	c.2161G>T	c.(2161-2163)Ggt>Tgt	p.G721C	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	721										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCAGAGGAGGGTACCTCAAT	0.542																																						ENST00000530275.1		NA																	0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(2161-2163)Ggt>Tgt		KIAA0754							41.0	42.0	42.0					1																	39878506		2000	4167	6167	SO:0001583	missense	643314							g.chr1:39878506G>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2161G>T	1.37:g.39878506G>T	ENSP00000431179:p.Gly721Cys	True	False		Somatic	0				MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron	p.G721C	NM_015038.1	NP_055853.1	WXS	Illumina HiSeq	Phase_I	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	2356	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	721					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.2161G>T		.	.	.	.	.	.	.	.	.	.	G	9.814	1.183976	0.21870	.	.	ENSG00000255103	ENST00000530275	T	0.25912	1.77	2.94	2.01	0.26516	.	.	.	.	.	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	B	0.40285	0.325	T	0.10636	-1.0621	9	0.62326	D	0.03	.	4.2424	0.10654	0.1402:0.2402:0.6196:0.0	.	721	O94854	K0754_HUMAN	C	721	ENSP00000431179:G721C	ENSP00000431179:G721C	G	+	1	0	RP4-562N20.1	39651093	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-0.271000	0.08572	0.553000	0.29044	0.561000	0.74099	GGT		0.542	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	0	NM_015038		1:39878506
ABLIM1	3983	broad.mit.edu	37	10	116444085	116444085	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:116444085G>A	ENST00000369252.4	-	1	329	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	ABLIM1_ENST00000533213.2_Missense_Mutation_p.L10F	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	0					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGGTCCGTGAGCTCAGTCATT	0.463																																						ENST00000533213.2		NA																	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(28-30)Ctc>Ttc		actin binding LIM protein 1							206.0	165.0	179.0					10																	116444085		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116444085G>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000369252.4:c.28C>T	10.37:g.116444085G>A	ENSP00000358256:p.Leu10Phe	False	False		Somatic	0				ABLIM1_ENST00000369252.4_Missense_Mutation_p.L10F	p.L10F			WXS	Illumina HiSeq	Phase_I	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	1	329	-		Colorectal(252;0.0373)|Breast(234;0.231)	0					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000369252.4	37	c.28C>T	CCDS31288.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609503	0.28623	.	.	ENSG00000099204	ENST00000369252;ENST00000369267;ENST00000533213	T;T	0.28069	1.63;1.63	5.87	3.94	0.45596	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.25237	N	0.989784	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.28902	-1.0029	9	0.18710	T	0.47	.	7.6005	0.28073	0.0929:0.1705:0.7367:0.0	.	10;10;10	F8W8M4;A6NKJ2;B3KVH2	.;.;.	F	10	ENSP00000358256:L10F;ENSP00000433629:L10F	ENSP00000358256:L10F	L	-	1	0	ABLIM1	116434075	0.832000	0.29368	0.055000	0.19348	0.676000	0.39594	1.540000	0.36115	0.854000	0.35336	0.655000	0.94253	CTC		0.463	ABLIM1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0			10:116444085
CPB1	1360	broad.mit.edu	37	3	148563350	148563350	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr3:148563350C>A	ENST00000491148.1	+	10	1252	c.918C>A	c.(916-918)taC>taA	p.Y306*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.Y306*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	306						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCCACTCGTACTCCCAAATGA	0.443																																						ENST00000491148.1		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(916-918)taC>taA		carboxypeptidase B1 (tissue)							143.0	136.0	138.0					3																	148563350		2203	4300	6503	SO:0001587	stop_gained	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148563350C>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.918C>A	3.37:g.148563350C>A	ENSP00000417222:p.Tyr306*	False	False		Somatic	0				CPB1_ENST00000282957.4_Nonsense_Mutation_p.Y306*	p.Y306*			WXS	Illumina HiSeq	Phase_I	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		10	1252	+			306					O60834|Q53XJ0|Q96BQ8	Nonsense_Mutation	SNP	ENST00000491148.1	37	c.918C>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903423	0.52333	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	.	.	.	5.69	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7299	0.08489	0.0:0.662:0.0:0.338	.	.	.	.	X	306	.	ENSP00000282957:Y306X	Y	+	3	2	CPB1	150046040	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	2.436000	0.44819	2.677000	0.91161	0.655000	0.94253	TAC		0.443	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	0	NM_001871		3:148563350
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_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_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_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
CDH8	1006	broad.mit.edu	37	16	61851519	61851519	+	Missense_Mutation	SNP	C	C	T	rs375557193		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr16:61851519C>T	ENST00000577390.1	-	7	2095	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	CDH8_ENST00000299345.6_Missense_Mutation_p.V381M|CDH8_ENST00000577730.1_Missense_Mutation_p.V381M|CDH8_ENST00000584337.1_Missense_Mutation_p.V381M	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	381	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTTCAACCACGATTTTGACT	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15370	0.0		0.0	False		,,,				2504	0.0					ENST00000577390.1		NA																	0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1141-1143)Gtg>Atg		cadherin 8, type 2		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	107.0	87.0	94.0		1141	6.2	0.9	16		94	0,8600		0,0,4300	no	missense	CDH8	NM_001796.4	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	381/800	61851519	1,13005	2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851519C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1141G>A	16.37:g.61851519C>T	ENSP00000462701:p.Val381Met	False	False		Somatic	0				CDH8_ENST00000299345.6_Missense_Mutation_p.V381M|CDH8_ENST00000584337.1_Missense_Mutation_p.V381M|CDH8_ENST00000577730.1_Missense_Mutation_p.V381M	p.V381M	NM_001796.4	NP_001787.2	WXS	Illumina HiSeq	Phase_I	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	7	2095	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	381			Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1141G>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939496	0.34189	2.27E-4	0.0	ENSG00000150394	ENST00000299345	T	0.01838	4.61	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.275056	0.41605	D	0.000854	T	0.04497	0.0123	N	0.16567	0.415	0.37077	D	0.89879	D;B	0.69078	0.997;0.232	P;B	0.58454	0.839;0.095	T	0.55630	-0.8111	10	0.49607	T	0.09	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	197;381	Q3LID3;P55286	.;CADH8_HUMAN	M	381	ENSP00000299345:V381M	ENSP00000299345:V381M	V	-	1	0	CDH8	60409020	0.074000	0.21230	0.851000	0.33527	0.731000	0.41821	1.447000	0.35101	2.941000	0.99782	0.655000	0.94253	GTG		0.483	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	0	NM_001796		16:61851519
ST8SIA6	338596	broad.mit.edu	37	10	17363216	17363216	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr10:17363216C>T	ENST00000377602.4	-	8	932	c.858G>A	c.(856-858)acG>acA	p.T286T		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	286					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACTCTTCGAGCGTGTAGTATA	0.433																																						ENST00000377602.4		NA																	0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(856-858)acG>acA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							139.0	146.0	144.0					10																	17363216		2203	4300	6503	SO:0001819	synonymous_variant	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363216C>T		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.858G>A	10.37:g.17363216C>T		False	False		Somatic	0					p.T286T	NM_001004470.1	NP_001004470.1	WXS	Illumina HiSeq	Phase_I	P61647	SIA8F_HUMAN			8	932	-			286					B0YJ97|B9EH72|Q5VZH4	Silent	SNP	ENST00000377602.4	37	c.858G>A	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.420576	0.01136	.	.	ENSG00000148488	ENST00000440449	.	.	.	5.18	-7.5	0.01351	.	.	.	.	.	T	0.30978	0.0782	.	.	.	0.32113	N	0.589013	.	.	.	.	.	.	T	0.36359	-0.9751	4	.	.	.	0.8831	5.9037	0.18980	0.2924:0.3042:0.0:0.4034	.	.	.	.	T	107	.	.	A	-	1	0	ST8SIA6	17403222	0.002000	0.14202	0.002000	0.10522	0.018000	0.09664	-1.684000	0.01932	-1.523000	0.01767	-1.154000	0.01816	GCT		0.433	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	0	NM_001004470		10:17363216
HERC2	8924	broad.mit.edu	37	15	28459392	28459392	+	Missense_Mutation	SNP	G	G	A	rs138059246	byFrequency	TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:28459392G>A	ENST00000261609.7	-	41	6493	c.6385C>T	c.(6385-6387)Cgc>Tgc	p.R2129C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTGCGGGCGCACCCTGCGC	0.667																																						ENST00000261609.7		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(6385-6387)Cgc>Tgc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							25.0	26.0	25.0					15																	28459392		2195	4292	6487	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28459392G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6385C>T	15.37:g.28459392G>A	ENSP00000261609:p.Arg2129Cys	False	False		Somatic	0					p.R2129C	NM_004667.5	NP_004658.3	WXS	Illumina HiSeq	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	41	6493	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2129						Missense_Mutation	SNP	ENST00000261609.7	37	c.6385C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944883	0.53079	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	4.75	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55866	-0.8073	10	0.72032	D	0.01	.	12.4051	0.55434	0.0:0.0:0.7652:0.2348	.	2129	O95714	HERC2_HUMAN	C	2129	ENSP00000261609:R2129C	ENSP00000261609:R2129C	R	-	1	0	HERC2	26132987	1.000000	0.71417	0.956000	0.39512	0.126000	0.20510	3.130000	0.50508	2.461000	0.83175	0.484000	0.47621	CGC		0.667	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	NM_004667		15:28459392
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		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.chr17:7577539G>A	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	False	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_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	p.R248W	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)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577539
OR2M3	127062	broad.mit.edu	37	1	248366501	248366501	+	Silent	SNP	C	C	T			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr1:248366501C>T	ENST00000456743.1	+	1	170	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAAACTCTGTCATGGTTCTCC	0.547																																						ENST00000456743.1		NA																	0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(130-132)gtC>gtT		olfactory receptor, family 2, subfamily M, member 3							253.0	245.0	248.0					1																	248366501		2203	4298	6501	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366501C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.132C>T	1.37:g.248366501C>T		False	False		Somatic	0					p.V44V	NM_001004689.1	NP_001004689.1	WXS	Illumina HiSeq	Phase_I	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	170	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		44					B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.132C>T	CCDS31107.1																																																																																				0.547	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	0	NM_001004689		1:248366501
CYP11A1	1583	broad.mit.edu	37	15	74636261	74636261	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A5A3-01A-11D-A26I-08	TCGA-HV-A5A3-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	dc1af79f-1a4c-4a72-99b1-821001ce486e	598ea016-34e0-4328-9a5e-5b47c05b42c9	g.chr15:74636261A>G	ENST00000268053.6	-	4	852	c.698T>C	c.(697-699)tTc>tCc	p.F233S	CYP11A1_ENST00000358632.4_Missense_Mutation_p.F75S|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Missense_Mutation_p.F75S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	233					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GGCATCAATGAATCGCTGGGC	0.572																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(223-225)tTc>tCc		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						147.0	138.0	141.0					15																	74636261		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74636261A>G	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.698T>C	15.37:g.74636261A>G	ENSP00000268053:p.Phe233Ser	False	False		Somatic	0				CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Missense_Mutation_p.F233S|CYP11A1_ENST00000419019.2_Missense_Mutation_p.F75S	p.F75S	NM_001099773.1	NP_001093243.1	WXS	Illumina HiSeq	Phase_I	P05108	CP11A_HUMAN			4	919	-			233					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.224T>C	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304450	0.60305	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547	T;T;T	0.71461	-0.57;-0.57;-0.57	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88863	0.3327	10	0.87932	D	0	-18.212	13.221	0.59887	1.0:0.0:0.0:0.0	.	203;233	B4DTE5;P05108	.;CP11A_HUMAN	S	233;75;75;145	ENSP00000268053:F233S;ENSP00000351455:F75S;ENSP00000405488:F75S	ENSP00000268053:F233S	F	-	2	0	CYP11A1	72423314	1.000000	0.71417	0.972000	0.41901	0.164000	0.22412	8.511000	0.90535	1.617000	0.50277	0.439000	0.28862	TTC		0.572	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1	0			15:74636261
