#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-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del			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_ENST00000530235.1_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000398692.4_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
KRTAP5-7	440050	broad.mit.edu	37	11	71238742	71238743	+	Frame_Shift_Del	DEL	TT	TT	-	rs533945918	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:71238742_71238743delTT	ENST00000398536.4	+	1	430_431	c.396_397delTT	c.(394-399)tgttccfs	p.S134fs		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	134	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						cctgctgctgttcctcaggctg	0.614																																						ENST00000398536.4		NA																	0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(394-399)tgttccfs		keratin associated protein 5-7																																				SO:0001589	frameshift_variant	440050					keratin filament		g.chr11:71238742_71238743delTT	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.396_397delTT	11.37:g.71238742_71238743delTT	ENSP00000417330:p.Ser134fs	False	False		Somatic	2					p.S134fs	NM_001012503.1	NP_001012521.1	WXS	Illumina HiSeq	Phase_I	Q6L8G8	KRA57_HUMAN			1	430_431	+			134			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Frame_Shift_Del	DEL	ENST00000398536.4	37	c.396_397delTT	CCDS41682.1																																																																																				0.614	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1	0			11:71238742
PDE3A	5139	broad.mit.edu	37	12	20799489	20799489	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:20799489delC	ENST00000359062.3	+	11	2357	c.2317delC	c.(2317-2319)ccafs	p.P773fs	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	773	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ACAGCCTATTCCAGGCCTCTC	0.413																																						ENST00000359062.3		NA																	0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2317-2319)ccafs		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						169.0	144.0	152.0					12																	20799489		2203	4300	6503	SO:0001589	frameshift_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20799489delC		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2317delC	12.37:g.20799489delC	ENSP00000351957:p.Pro773fs	False	False		Somatic	2				PDE3A_ENST00000544307.1_3'UTR	p.P773fs	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	WXS	Illumina HiSeq	Phase_I	Q14432	PDE3A_HUMAN			11	2357	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	773			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Frame_Shift_Del	DEL	ENST00000359062.3	37	c.2317delC	CCDS31754.1																																																																																				0.413	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	0			12:20799489
NBPF14	25832	broad.mit.edu	37	1	148012526	148012527	+	Frame_Shift_Ins	INS	-	-	AGAT			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:148012526_148012527insAGAT	ENST00000369219.1	-	12	1448_1449	c.1432_1433insATCT	c.(1432-1434)gttfs	p.V478fs				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	478	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGAAAAGCCAACATGCTTTTCC	0.45																																						ENST00000369219.1		NA																	0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(1432-1434)gttfs		neuroblastoma breakpoint family, member 14																																				SO:0001589	frameshift_variant	25832					cytoplasm		g.chr1:148012526_148012527insAGAT	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1432_1433insATCT	1.37:g.148012526_148012527insAGAT	ENSP00000358221:p.Val478fs	False	False		Somatic	0					p.V478fs			WXS	Illumina HiSeq	Phase_I	Q5TI25	NBPFE_HUMAN			12	1448_1449	-	all_hematologic(923;0.032)		478			NBPF 5.		Q5TI23|Q8IX76|Q9UJI9	Frame_Shift_Ins	INS	ENST00000369219.1	37	c.1432_1433insATCT																																																																																					0.450	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_015383		1:148012526
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	792	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638																																						ENST00000301067.7		NA																	0					NA						c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	12.37:g.49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENSP00000301067:p.Ala792_Gln809del	False	False		Somatic	1					p.AEGPHLSPQPEELHLSPQ792del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					10	2373_2426	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	CCDS44873.1																																																																																				0.638	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49445039
NIPA2	81614	broad.mit.edu	37	15	23021237	23021238	+	Frame_Shift_Ins	INS	-	-	T	rs145147241|rs7170838	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr15:23021237_23021238insT	ENST00000337451.3	-	4	711_712	c.99_100insA	c.(97-102)aagggcfs	p.G34fs	NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000559571.1_5'Flank	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	34						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CGAAGGAGGCCCTTTTTTTTCA	0.446																																						ENST00000337451.3		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(97-102)aagggcfs		non imprinted in Prader-Willi/Angelman syndrome 2																																				SO:0001589	frameshift_variant	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23021237_23021238insT	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.99_100insA	15.37:g.23021237_23021238insT	ENSP00000337618:p.Gly34fs	True	False		Somatic	0				NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.G34fs	p.G34fs	NM_030922.6	NP_112184.4	WXS	Illumina HiSeq	Phase_I	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	4	711_712	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	34					F8W7Y8|Q96F03|Q9BVS2	Frame_Shift_Ins	INS	ENST00000337451.3	37	c.99_100insA	CCDS10010.1																																																																																				0.446	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	0	NM_030922		15:23021237
CSRNP3	80034	broad.mit.edu	37	2	166535613	166535615	+	In_Frame_Del	DEL	GAC	GAC	-	rs61747278	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:166535613_166535615delGAC	ENST00000342316.4	+	5	1380_1382	c.1108_1110delGAC	c.(1108-1110)gacdel	p.D370del	CSRNP3_ENST00000314499.7_In_Frame_Del_p.D370del|CSRNP3_ENST00000409420.1_In_Frame_Del_p.D402del	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	370	Glu-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAGTGAGTCAGACgaggaggagg	0.537																																						ENST00000409420.1		NA																	0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(1204-1206)gacdel		cysteine-serine-rich nuclear protein 3			,	14,4252		0,14,2119					,	-5.1	0.6			91	168,8086		3,162,3962	no	coding,coding	CSRNP3	NM_024969.3,NM_001172173.1	,	3,176,6081	A1A1,A1R,RR		2.0354,0.3282,1.4537	,	,		182,12338				SO:0001651	inframe_deletion	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166535613_166535615delGAC	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1108_1110delGAC	2.37:g.166535613_166535615delGAC	ENSP00000344042:p.Asp370del	False	False		Somatic	1				CSRNP3_ENST00000342316.4_In_Frame_Del_p.D370del|CSRNP3_ENST00000314499.7_In_Frame_Del_p.D370del	p.D402del			WXS	Illumina HiSeq	Phase_I	Q8WYN3	CSRN3_HUMAN			5	1454_1456	+			370					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	In_Frame_Del	DEL	ENST00000342316.4	37	c.1204_1206delGAC	CCDS2225.1																																																																																				0.537	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	0	NM_024969		2:166535613
CREB1	1385	broad.mit.edu	37	2	208440094	208440107	+	Frame_Shift_Del	DEL	CAGCCGGGTACTAC	CAGCCGGGTACTAC	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	CAGCCGGGTACTAC	CAGCCGGGTACTAC	-	-	CAGCCGGGTACTAC	CAGCCGGGTACTAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:208440094_208440107delCAGCCGGGTACTAC	ENST00000432329.2	+	7	897_910	c.646_659delCAGCCGGGTACTAC	c.(646-660)cagccgggtactaccfs	p.QPGTT216fs	CREB1_ENST00000353267.3_Frame_Shift_Del_p.QPGTT202fs|CREB1_ENST00000536726.1_Frame_Shift_Del_p.QPGTT202fs|CREB1_ENST00000374397.4_Intron|CREB1_ENST00000430624.1_Frame_Shift_Del_p.QPGTT202fs|CREB1_ENST00000539789.1_3'UTR	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	216					activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	AGCAGCCACTCAGCCGGGTACTACCATTCTACAG	0.5			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""																																	ENST00000432329.2		NA		Dom	yes		2	2q34	1385	T	cAMP responsive element binding protein 1			M	EWSR1		"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""	EWSR1/CREB1(44)	0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5						c.(646-660)cagccgggtactaccfs		cAMP responsive element binding protein 1	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)																																			SO:0001589	frameshift_variant	1385				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity	g.chr2:208440094_208440107delCAGCCGGGTACTAC	M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"""basic leucine zipper proteins"""	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.646_659delCAGCCGGGTACTAC	2.37:g.208440094_208440107delCAGCCGGGTACTAC	ENSP00000387699:p.Gln216fs	True	False		Somatic	1				CREB1_ENST00000374397.4_Intron|CREB1_ENST00000430624.1_Frame_Shift_Del_p.QPGTT202fs|CREB1_ENST00000353267.3_Frame_Shift_Del_p.QPGTT202fs|CREB1_ENST00000536726.1_Frame_Shift_Del_p.QPGTT202fs|CREB1_ENST00000539789.1_3'UTR	p.QPGTT216fs	NM_134442.3	NP_604391.1	WXS	Illumina HiSeq	Phase_I	P16220	CREB1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	7	897_910	+			216					P21934|Q6V963|Q9UMA7	Frame_Shift_Del	DEL	ENST00000432329.2	37	c.646_659delCAGCCGGGTACTAC	CCDS2375.1																																																																																				0.500	CREB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256467.3	0	NM_134442		2:208440094
HACL1	26061	broad.mit.edu	37	3	15613278	15613279	+	Splice_Site	INS	-	-	G	rs56298314|rs200924343	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:15613278_15613279insG	ENST00000321169.5	-	12	1361		c.e12-2		HACL1_ENST00000435217.2_Splice_Site|HACL1_ENST00000456194.2_Splice_Site|HACL1_ENST00000451445.2_Splice_Site|HACL1_ENST00000457447.2_Intron	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_ENST00000321169.5_Splice_Site|HACL1_ENST00000435217.2_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
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76652976	76652977	+	RNA	INS	-	-	TA			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:76652976_76652977insTA	ENST00000584900.1	+	0	1534_1535					NR_023383.1				DTX2P1-UPK3BP1-PMS2P11 readthrough transcribed pseudogene																		GTATTCAGCTCCATCAAGAATG	0.475																																						ENST00000584900.1		NA																	0					NA																																														0							g.chr7:76652976_76652977insTA	U38980		7q11.23	2014-09-10	2012-12-07		ENSG00000265479	ENSG00000265479			42360	other	readthrough			"""DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding)"""				Standard	NR_023383		Approved		uc003ufw.4		OTTHUMG00000179528		7.37:g.76652976_76652977insTA		False	False		Somatic	0						NR_023383.1		WXS	Illumina HiSeq	Phase_I					0	1534_1535	+			NA						RNA	INS	ENST00000584900.1	37																																																																																						0.475	DTX2P1-UPK3BP1-PMS2P11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000446923.2	0	NR_023383		7:76652976
GRINA	2907	broad.mit.edu	37	8	145066170	145066172	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:145066170_145066172delTCT	ENST00000313269.5	+	4	895_897	c.617_619delTCT	c.(616-621)gtcttc>gtc	p.F208del	GRINA_ENST00000395068.4_In_Frame_Del_p.F208del	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	208						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTATGCTGTCTTCTTCATCTC	0.547																																						ENST00000313269.5		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9						c.(616-621)gtcttc>gtc		glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)																																				SO:0001651	inframe_deletion	2907					integral to membrane		g.chr8:145066170_145066172delTCT	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.617_619delTCT	8.37:g.145066173_145066175delTCT	ENSP00000314380:p.Phe208del	False	False		Somatic	2				GRINA_ENST00000395068.4_In_Frame_Del_p.F208del	p.F208del	NM_000837.1	NP_000828.1	WXS	Illumina HiSeq	Phase_I	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	895_897	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		208					B3KXM7|O43836|Q8IVW7	In_Frame_Del	DEL	ENST00000313269.5	37	c.617_619delTCT	CCDS34961.1																																																																																				0.547	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	0	NM_001009184		8:145066170
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	lincRNA	DEL	G	G	-	rs201713470	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373																																						ENST00000454645.1		NA																	0					NA																																														0							g.chr9:41962602delG																													9.37:g.41962602delG		True	False		Somatic	1						NR_003670.1		WXS	Illumina HiSeq	Phase_I					0	902	-			NA						RNA	DEL	ENST00000454645.1	37																																																																																						0.373	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1	0			9:41962602
RS1	6247	broad.mit.edu	37	X	18674869	18674869	+	Missense_Mutation	SNP	C	C	T	rs146477940	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:18674869C>T	ENST00000379984.3	-	3	128	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	30					adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CAGGGGTCCTCGCCTTCATCC	0.557																																						ENST00000379984.3		NA																	0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(88-90)Gag>Aag		retinoschisin 1		C	LYS/GLU	1,3834		0,1,0,1631,571	150.0	114.0	126.0		88	5.2	1.0	X	dbSNP_134	126	1,6727		0,0,1,2428,1871	no	missense	RS1	NM_000330.3	56	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	benign	30/225	18674869	2,10561	2203	4300	6503	SO:0001583	missense	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18674869C>T	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.88G>A	X.37:g.18674869C>T	ENSP00000369320:p.Glu30Lys	False	False		Somatic	0					p.E30K	NM_000330.3	NP_000321.1	WXS	Illumina HiSeq	Phase_I	O15537	XLRS1_HUMAN			3	128	-	Hepatocellular(33;0.183)		30					Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	c.88G>A	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064013	0.20067	2.61E-4	1.49E-4	ENSG00000102104	ENST00000379984	D	0.98249	-4.82	5.15	5.15	0.70609	.	0.496244	0.22178	N	0.063545	D	0.94381	0.8193	L	0.46157	1.445	0.26249	N	0.978759	B	0.31040	0.305	B	0.19148	0.024	D	0.85724	0.1327	10	0.06625	T	0.88	.	8.4044	0.32605	0.1599:0.6651:0.175:0.0	.	30	O15537	XLRS1_HUMAN	K	30	ENSP00000369320:E30K	ENSP00000369320:E30K	E	-	1	0	RS1	18584790	0.808000	0.29022	0.995000	0.50966	0.113000	0.19764	1.244000	0.32778	2.264000	0.75181	0.600000	0.82982	GAG		0.557	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1	0			X:18674869
MRPS24	64951	broad.mit.edu	37	7	43909090	43909090	+	Missense_Mutation	SNP	G	G	A	rs368968590		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:43909090G>A	ENST00000317534.5	-	1	66	c.5C>T	c.(4-6)gCg>gTg	p.A2V	MRPS24_ENST00000467084.1_Intron|URGCP-MRPS24_ENST00000603700.1_Intron	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	2					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						CACGGAGGCCGCCATCTTGGG	0.697																																						ENST00000317534.5		NA																	0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(4-6)gCg>gTg		mitochondrial ribosomal protein S24		G	,VAL/ALA	1,4233		0,1,2116	6.0	7.0	7.0		,5	3.8	0.5	7		7	0,8342		0,0,4171	no	intron,missense	MRPS24,URGCP-MRPS24	NM_001204871.1,NM_032014.2	,64	0,1,6287	AA,AG,GG		0.0,0.0236,0.0080	,benign	,2/168	43909090	1,12575	2117	4171	6288	SO:0001583	missense	64951				translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr7:43909090G>A	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"""Mitochondrial ribosomal proteins / small subunits"""	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.5C>T	7.37:g.43909090G>A	ENSP00000318158:p.Ala2Val	False	False		Somatic	0				URGCP-MRPS24_ENST00000603700.1_Intron|MRPS24_ENST00000467084.1_Intron	p.A2V	NM_032014.2	NP_114403.1	WXS	Illumina HiSeq	Phase_I	Q96EL2	RT24_HUMAN			1	66	-			2					A4D1U9|P82668|Q96Q23|Q9P047	Missense_Mutation	SNP	ENST00000317534.5	37	c.5C>T	CCDS5473.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633037	0.29068	2.36E-4	0.0	ENSG00000062582	ENST00000317534	T	0.46451	0.87	4.7	3.81	0.43845	.	0.564481	0.18229	N	0.147626	T	0.33760	0.0874	L	0.41961	1.31	0.30449	N	0.77543	B	0.15719	0.014	B	0.12156	0.007	T	0.28870	-1.0030	10	0.45353	T	0.12	.	8.895	0.35458	0.106:0.0:0.894:0.0	.	2	Q96EL2	RT24_HUMAN	V	2	ENSP00000318158:A2V	ENSP00000318158:A2V	A	-	2	0	MRPS24	43875615	1.000000	0.71417	0.496000	0.27539	0.158000	0.22134	2.644000	0.46613	0.938000	0.37419	0.655000	0.94253	GCG		0.697	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	0	NM_032014		7:43909090
TRPC3	7222	broad.mit.edu	37	4	122853995	122853995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:122853995C>T	ENST00000379645.3	-	2	491	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	TRPC3_ENST00000513531.1_Missense_Mutation_p.V67I|TRPC3_ENST00000264811.5_Missense_Mutation_p.V67I	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	55					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACGCAGTTGACGTTCAGCGTC	0.637																																						ENST00000264811.5		NA																	0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(199-201)Gtc>Atc		transient receptor potential cation channel, subfamily C, member 3							62.0	58.0	59.0					4																	122853995		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122853995C>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.418G>A	4.37:g.122853995C>T	ENSP00000368966:p.Val140Ile	False	False		Somatic	0				TRPC3_ENST00000513531.1_Missense_Mutation_p.V67I|TRPC3_ENST00000379645.3_Missense_Mutation_p.V140I	p.V67I	NM_003305.2	NP_003296.1	WXS	Illumina HiSeq	Phase_I	Q13507	TRPC3_HUMAN			1	617	-			55					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.199G>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344029	0.61073	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;T	0.70631	-0.5;-0.5;-0.5;0.24	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	N	0.11698	0.16	0.48395	D	0.999648	B;P	0.39404	0.322;0.672	B;B	0.41466	0.131;0.358	T	0.55321	-0.8159	10	0.06236	T	0.91	-30.807	20.3932	0.98965	0.0:1.0:0.0:0.0	.	67;140	E9PCJ9;Q5G1L5	.;.	I	67;140;67;67	ENSP00000264811:V67I;ENSP00000368966:V140I;ENSP00000426899:V67I;ENSP00000422214:V67I	ENSP00000264811:V67I	V	-	1	0	TRPC3	123073445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.313000	0.51935	2.824000	0.97209	0.655000	0.94253	GTC		0.637	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	0	NM_003305		4:122853995
FARS2	10667	broad.mit.edu	37	6	5771561	5771561	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr6:5771561C>A	ENST00000324331.6	+	7	1591	c.1255C>A	c.(1255-1257)Cgc>Agc	p.R419S	FARS2_ENST00000274680.4_Missense_Mutation_p.R419S			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	419	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CATCACGTACCGCCACATGGA	0.592																																						ENST00000324331.6		NA																	0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(1255-1257)Cgc>Agc		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						167.0	124.0	138.0					6																	5771561		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5771561C>A	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1255C>A	6.37:g.5771561C>A	ENSP00000316335:p.Arg419Ser	False	False		Somatic	0				FARS2_ENST00000274680.4_Missense_Mutation_p.R419S	p.R419S			WXS	Illumina HiSeq	Phase_I	O95363	SYFM_HUMAN			7	1591	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	419			FDX-ACB.		B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.1255C>A	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036211	0.93630	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.78707	-1.2;-1.2	5.81	5.81	0.92471	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.000000	0.85682	D	0.000000	D	0.90611	0.7056	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92242	0.5801	10	0.87932	D	0	-29.0672	18.6464	0.91411	0.0:1.0:0.0:0.0	.	419	O95363	SYFM_HUMAN	S	419	ENSP00000274680:R419S;ENSP00000316335:R419S	ENSP00000274680:R419S	R	+	1	0	FARS2	5716560	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.724000	0.74747	2.746000	0.94184	0.655000	0.94253	CGC		0.592	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	0	NM_006567		6:5771561
DDB1	1642	broad.mit.edu	37	11	61091514	61091514	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:61091514C>T	ENST00000301764.7	-	7	1255	c.858G>A	c.(856-858)gaG>gaA	p.E286E	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	286	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTTCCTCCTTCTCCAAAAGCA	0.517								Nucleotide excision repair (NER)																														ENST00000301764.7		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(856-858)gaG>gaA	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							208.0	195.0	199.0					11																	61091514		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61091514C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.858G>A	11.37:g.61091514C>T		False	False		Somatic	0				DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	p.E286E	NM_001923.4	NP_001914.3	WXS	Illumina HiSeq	Phase_I	Q16531	DDB1_HUMAN			7	1255	-			286			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.858G>A	CCDS31576.1																																																																																				0.517	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	0	NM_001923		11:61091514
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(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	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578263G>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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	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_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	p.R196*	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)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578263
GAREM	64762	broad.mit.edu	37	18	29867104	29867104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr18:29867104G>A	ENST00000269209.6	-	4	1459	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	GAREM_ENST00000578619.1_5'Flank|GAREM_ENST00000399218.4_Nonsense_Mutation_p.R486*|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	486					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										CATTTGGATCGGACAGAACCT	0.552																																						ENST00000399218.4		NA																	0					NA						c.(1456-1458)Cga>Tga		GRB2 associated, regulator of MAPK1							145.0	134.0	138.0					18																	29867104		2203	4300	6503	SO:0001587	stop_gained	64762							g.chr18:29867104G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1456C>T	18.37:g.29867104G>A	ENSP00000269209:p.Arg486*	False	False		Somatic	0				GAREM_ENST00000269209.6_Nonsense_Mutation_p.R486*	p.R486*	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1	WXS	Illumina HiSeq	Phase_I					4	1511	-			NA					Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Nonsense_Mutation	SNP	ENST00000269209.6	37	c.1456C>T	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844341	0.91197	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	.	.	.	5.26	3.24	0.37175	.	0.227093	0.44483	D	0.000447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5531	9.5978	0.39584	0.0706:0.0:0.7444:0.1851	.	.	.	.	X	486	.	ENSP00000269209:R486X	R	-	1	2	FAM59A	28121102	0.993000	0.37304	0.179000	0.23059	0.324000	0.28378	3.758000	0.55220	0.691000	0.31592	-0.140000	0.14226	CGA		0.552	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	0	NM_022751		18:29867104
PBRM1	55193	broad.mit.edu	37	3	52649473	52649473	+	Splice_Site	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:52649473C>T	ENST00000296302.7	-	15	1820		c.e15-1		PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTATAAACCTACATTCCAA	0.338			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4		NA		Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.e14-1		polybromo 1							78.0	74.0	75.0					3																	52649473		2203	4300	6503	SO:0001630	splice_region_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52649473C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1819-1G>A	3.37:g.52649473C>T		False	False		Somatic	0				PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	14	1725	-			NA					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37			.	.	.	.	.	.	.	.	.	.	C	15.35	2.806869	0.50421	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8084	0.96538	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52624513	1.000000	0.71417	0.998000	0.56505	0.452000	0.32318	7.487000	0.81328	2.687000	0.91594	0.462000	0.41574	.		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	0	NM_018165	Intron	3:52649473
DLGAP3	58512	broad.mit.edu	37	1	35370343	35370343	+	Silent	SNP	C	C	T	rs142633506	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:35370343C>T	ENST00000373347.1	-	3	910	c.642G>A	c.(640-642)ccG>ccA	p.P214P	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Silent_p.P214P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	214					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTCCAGAGCCCGGGCCGGGGT	0.652													c|||	2	0.000399361	0.0	0.0	5008	,	,		13404	0.002		0.0	False		,,,				2504	0.0					ENST00000373347.1		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(640-642)ccG>ccA		discs, large (Drosophila) homolog-associated protein 3				0,4406		0,0,2203	39.0	40.0	40.0		642	-5.5	0.2	1	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DLGAP3	NM_001080418.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		214/980	35370343	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370343C>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.642G>A	1.37:g.35370343C>T		True	False		Somatic	0				DLGAP3_ENST00000235180.4_Silent_p.P214P	p.P214P			WXS	Illumina HiSeq	Phase_I	O95886	DLGP3_HUMAN			3	910	-		Myeloproliferative disorder(586;0.0393)	214					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.642G>A	CCDS30670.1																																																																																				0.652	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	0	NM_021234		1:35370343
JAKMIP1	152789	broad.mit.edu	37	4	6114531	6114531	+	Missense_Mutation	SNP	G	G	A	rs148302835	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:6114531G>A	ENST00000282924.5	-	2	532	c.47C>T	c.(46-48)aCg>aTg	p.T16M	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.T16M|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.T16M|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.T16M|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.T16M	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	16	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCGCGTCCGTCTCCATCTC	0.607													G|||	5	0.000998403	0.0038	0.0	5008	,	,		20644	0.0		0.0	False		,,,				2504	0.0					ENST00000409021.3		NA																	0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(46-48)aCg>aTg		janus kinase and microtubule interacting protein 1		G	MET/THR,MET/THR	6,4400	9.9+/-24.2	0,6,2197	127.0	101.0	110.0		47,47	0.9	0.1	4	dbSNP_134	110	0,8600		0,0,4300	yes	missense,missense	JAKMIP1	NM_001099433.1,NM_144720.3	81,81	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign,benign	16/832,16/627	6114531	6,13000	2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6114531G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.47C>T	4.37:g.6114531G>A	ENSP00000282924:p.Thr16Met	True	False		Somatic	0				JAKMIP1_ENST00000410077.2_Missense_Mutation_p.T16M|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.T16M|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.T16M|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.T16M|JAKMIP1_ENST00000457227.2_Intron	p.T16M	NM_001099433.1	NP_001092903.1	WXS	Illumina HiSeq	Phase_I	Q96N16	JKIP1_HUMAN			2	496	-			16			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.47C>T	CCDS3385.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.194	0.034762	0.08101	0.001362	0.0	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.30448	1.94;1.53;1.94;1.94;1.53	3.94	0.904	0.19302	.	0.626666	0.14992	N	0.286656	T	0.10637	0.0260	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B	0.15719	0.014;0.002;0.014;0.014;0.005	B;B;B;B;B	0.09377	0.003;0.002;0.004;0.003;0.004	T	0.27020	-1.0086	10	0.33940	T	0.23	.	7.349	0.26680	0.507:0.0:0.493:0.0	.	16;16;16;16;16	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	M	16	ENSP00000386711:T16M;ENSP00000387042:T16M;ENSP00000282924:T16M;ENSP00000386925:T16M;ENSP00000386745:T16M	ENSP00000282924:T16M	T	-	2	0	JAKMIP1	6165432	0.008000	0.16893	0.117000	0.21633	0.587000	0.36485	1.445000	0.35079	0.316000	0.23135	0.591000	0.81541	ACG		0.607	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	0	NM_144720		4:6114531
PKHD1L1	93035	broad.mit.edu	37	8	110457259	110457259	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:110457259C>A	ENST00000378402.5	+	38	5265	c.5161C>A	c.(5161-5163)Ctt>Att	p.L1721I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1721	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCCCAACAGCTTGTGGATGT	0.438										HNSCC(38;0.096)																												ENST00000378402.5		NA																	0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5161-5163)Ctt>Att		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							200.0	192.0	195.0					8																	110457259		1918	4133	6051	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457259C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5161C>A	8.37:g.110457259C>A	ENSP00000367655:p.Leu1721Ile	False	False	HNSCC(38;0.096)	Somatic	0					p.L1721I	NM_177531.4	NP_803875.2	WXS	Illumina HiSeq	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5265	+			1721			IPT/TIG 9.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5161C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	7.230	0.599079	0.13939	.	.	ENSG00000205038	ENST00000378402	T	0.78003	-1.14	6.17	5.27	0.74061	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.524512	0.19441	N	0.114191	T	0.74816	0.3766	L	0.54323	1.7	0.09310	N	1	P	0.35527	0.507	B	0.40602	0.334	T	0.64647	-0.6358	10	0.22706	T	0.39	.	12.7395	0.57243	0.2809:0.7191:0.0:0.0	.	1721	Q86WI1	PKHL1_HUMAN	I	1721	ENSP00000367655:L1721I	ENSP00000367655:L1721I	L	+	1	0	PKHD1L1	110526435	0.000000	0.05858	0.659000	0.29680	0.463000	0.32649	-0.229000	0.09098	2.941000	0.99782	0.655000	0.94253	CTT		0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	0	NM_177531		8:110457259
DYRK2	8445	broad.mit.edu	37	12	68051338	68051338	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:68051338C>T	ENST00000344096.3	+	3	1064	c.651C>T	c.(649-651)caC>caT	p.H217H	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Silent_p.H144H	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	217					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CCCACGATCACGTGGCTTACA	0.552																																						ENST00000344096.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(649-651)caC>caT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2							72.0	57.0	62.0					12																	68051338		2203	4300	6503	SO:0001819	synonymous_variant	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68051338C>T	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.651C>T	12.37:g.68051338C>T		False	False		Somatic	0				DYRK2_ENST00000393555.3_Silent_p.H144H	p.H217H	NM_006482.2	NP_006473.2	WXS	Illumina HiSeq	Phase_I	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	1064	+			217					B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	37	c.651C>T	CCDS8978.1																																																																																				0.552	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1	0			12:68051338
DNM1P47	100216544	broad.mit.edu	37	15	102294625	102294625	+	RNA	SNP	G	G	A	rs371350413		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr15:102294625G>A	ENST00000561463.1	+	0	2671									DNM1 pseudogene 47																		ACAGCGGTGCGACGAGATGCT	0.592																																						ENST00000561463.1		NA																	0					NA																																														0							g.chr15:102294625G>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294625G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	2671	+			NA						RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	0	NG_009149		15:102294625
REG3A	5068	broad.mit.edu	37	2	79384703	79384703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:79384703C>T	ENST00000409839.3	-	5	491	c.455G>A	c.(454-456)aGc>aAc	p.S152N	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Missense_Mutation_p.S152N|REG3A_ENST00000305165.2_Missense_Mutation_p.S152N	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	152	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CTTACCTGTGCTTCTCGACAG	0.512																																						ENST00000393878.1		NA																	0				breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						c.(454-456)aGc>aAc		regenerating islet-derived 3 alpha							106.0	108.0	107.0					2																	79384703		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79384703C>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.455G>A	2.37:g.79384703C>T	ENSP00000386630:p.Ser152Asn	False	False		Somatic	0				REG3A_ENST00000409839.3_Missense_Mutation_p.S152N|REG3A_ENST00000305165.2_Missense_Mutation_p.S152N	p.S152N	NM_138938.2	NP_620355.1	WXS	Illumina HiSeq	Phase_I	Q06141	REG3A_HUMAN			4	709	-			152			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.455G>A	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	3.186	-0.166825	0.06461	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.18810	2.19;2.19;2.19	3.87	-7.73	0.01245	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	1.045080	0.07478	N	0.903419	T	0.11367	0.0277	L	0.38733	1.17	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19976	-1.0289	10	0.15499	T	0.54	.	4.6128	0.12411	0.0829:0.1018:0.2213:0.594	.	152	Q06141	REG3A_HUMAN	N	152	ENSP00000386630:S152N;ENSP00000377456:S152N;ENSP00000304311:S152N	ENSP00000304311:S152N	S	-	2	0	REG3A	79238211	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.756000	0.00374	-3.453000	0.00160	-1.185000	0.01705	AGC		0.512	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	0	NM_002580		2:79384703
DDB1	1642	broad.mit.edu	37	11	61091563	61091563	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:61091563C>G	ENST00000301764.7	-	7	1206	c.809G>C	c.(808-810)aGa>aCa	p.R270T	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	270	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGCAGGTATCTTGAGCCATT	0.493								Nucleotide excision repair (NER)																														ENST00000301764.7		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(808-810)aGa>aCa	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							162.0	161.0	162.0					11																	61091563		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61091563C>G	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.809G>C	11.37:g.61091563C>G	ENSP00000301764:p.Arg270Thr	False	False		Somatic	0				DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	p.R270T	NM_001923.4	NP_001914.3	WXS	Illumina HiSeq	Phase_I	Q16531	DDB1_HUMAN			7	1206	-			270			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.809G>C	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176730	0.94846	.	.	ENSG00000167986	ENST00000301764;ENST00000535174;ENST00000541513	T;T;T	0.44083	0.93;0.93;0.93	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.972;0.958;0.998	T	0.71234	-0.4653	10	0.40728	T	0.16	-16.3903	19.8965	0.96963	0.0:1.0:0.0:0.0	.	270;270;270	F5GY55;B7Z2A1;Q16531	.;.;DDB1_HUMAN	T	270;53;85	ENSP00000301764:R270T;ENSP00000446044:R53T;ENSP00000442660:R85T	ENSP00000301764:R270T	R	-	2	0	DDB1	60848139	1.000000	0.71417	0.613000	0.29037	0.952000	0.60782	7.818000	0.86416	2.717000	0.92951	0.655000	0.94253	AGA		0.493	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	0	NM_001923		11:61091563
MYO16	23026	broad.mit.edu	37	13	109704657	109704657	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:109704657A>G	ENST00000357550.2	+	24	2857	c.2816A>G	c.(2815-2817)aAt>aGt	p.N939S	MYO16_ENST00000356711.2_Missense_Mutation_p.N939S|MYO16_ENST00000457511.2_Missense_Mutation_p.N451S	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCTAGTGAAAATGTCGTGATC	0.373																																						ENST00000356711.2		NA																	0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(2815-2817)aAt>aGt		myosin XVI							107.0	92.0	97.0					13																	109704657		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109704657A>G		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2816A>G	13.37:g.109704657A>G	ENSP00000350160:p.Asn939Ser	True	False		Somatic	0				MYO16_ENST00000357550.2_Missense_Mutation_p.N939S|MYO16_ENST00000457511.2_Missense_Mutation_p.N451S	p.N939S	NM_015011.1	NP_055826.1	WXS	Illumina HiSeq	Phase_I	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		25	2942	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		939			Myosin head-like 2.			Missense_Mutation	SNP	ENST00000357550.2	37	c.2816A>G	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904230	0.52333	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000375857;ENST00000457511	D;D;D	0.86627	-2.15;-2.15;-2.15	5.96	5.96	0.96718	Myosin head, motor domain (2);	0.000000	0.43260	U	0.000582	D	0.84005	0.5377	L	0.50993	1.605	0.51767	D	0.99993	P;B;P	0.40282	0.453;0.291;0.711	B;B;B	0.38056	0.172;0.1;0.264	T	0.83210	-0.0074	9	.	.	.	.	15.6089	0.76699	1.0:0.0:0.0:0.0	.	451;939;939	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	S	939;939;727;451	ENSP00000349145:N939S;ENSP00000350160:N939S;ENSP00000401633:N451S	.	N	+	2	0	MYO16	108502658	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.917000	0.69989	2.279000	0.76181	0.533000	0.62120	AAT		0.373	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	0	NM_015011		13:109704657
GATAD2A	54815	broad.mit.edu	37	19	19609403	19609403	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:19609403C>A	ENST00000360315.3	+	8	1388	c.1076C>A	c.(1075-1077)aCg>aAg	p.T359K	GATAD2A_ENST00000429563.2_Missense_Mutation_p.T186K|GATAD2A_ENST00000358713.3_Missense_Mutation_p.T359K|GATAD2A_ENST00000404158.1_Missense_Mutation_p.T359K|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000252577.5_Missense_Mutation_p.T359K	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	359	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CTGGAGAAGACGCTACTCGAG	0.647																																						ENST00000404158.1		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(1075-1077)aCg>aAg		GATA zinc finger domain containing 2A							38.0	40.0	39.0					19																	19609403		2203	4300	6503	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19609403C>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1076C>A	19.37:g.19609403C>A	ENSP00000353463:p.Thr359Lys	False	False		Somatic	0				GATAD2A_ENST00000358713.3_Missense_Mutation_p.T359K|GATAD2A_ENST00000429563.2_Missense_Mutation_p.T186K|GATAD2A_ENST00000252577.5_Missense_Mutation_p.T359K|GATAD2A_ENST00000360315.3_Missense_Mutation_p.T359K|GATAD2A_ENST00000537887.1_5'UTR	p.T359K			WXS	Illumina HiSeq	Phase_I	Q86YP4	P66A_HUMAN			10	1494	+			359					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.1076C>A	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	C	31	5.086125	0.94100	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.54279	1.11;1.04;1.11;0.58	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.74290	-0.3713	9	.	.	.	-12.7933	18.3542	0.90351	0.0:1.0:0.0:0.0	.	186;378;359	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	K	359;359;378;359;186	ENSP00000353463:T359K;ENSP00000252577:T359K;ENSP00000351552:T359K;ENSP00000388416:T186K	.	T	+	2	0	GATAD2A	19470403	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	7.796000	0.85898	2.691000	0.91804	0.650000	0.86243	ACG		0.647	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	0	NM_017660		19:19609403
LAMB3	3914	broad.mit.edu	37	1	209799234	209799234	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:209799234C>T	ENST00000356082.4	-	14	1869	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	LAMB3_ENST00000391911.1_Missense_Mutation_p.V579M|MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000367030.3_Missense_Mutation_p.V579M	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	579	Domain II.|Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGGCAGGCCACGCACACCGGG	0.667																																						ENST00000391911.1		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1735-1737)Gtg>Atg		laminin, beta 3							31.0	32.0	32.0					1																	209799234		2202	4300	6502	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209799234C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1735G>A	1.37:g.209799234C>T	ENSP00000348384:p.Val579Met	False	False		Somatic	0				LAMB3_ENST00000356082.4_Missense_Mutation_p.V579M|LAMB3_ENST00000367030.3_Missense_Mutation_p.V579M	p.V579M	NM_001017402.1	NP_001017402.1	WXS	Illumina HiSeq	Phase_I	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	13	2124	-			579			Domain II.|Laminin EGF-like 6.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.1735G>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988775	0.35131	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.55588	0.51;0.51;0.51	5.24	3.17	0.36434	EGF-like, laminin (2);	0.654291	0.16212	N	0.224446	T	0.57080	0.2029	L	0.38953	1.18	0.22479	N	0.999064	D	0.89917	1.0	D	0.66602	0.945	T	0.41520	-0.9504	10	0.46703	T	0.11	.	8.3866	0.32503	0.0:0.6207:0.2998:0.0795	.	579	Q13751	LAMB3_HUMAN	M	579	ENSP00000375778:V579M;ENSP00000348384:V579M;ENSP00000355997:V579M	ENSP00000348384:V579M	V	-	1	0	LAMB3	207865857	0.030000	0.19436	0.901000	0.35422	0.169000	0.22640	0.404000	0.20999	1.160000	0.42584	0.456000	0.33151	GTG		0.667	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	0	NM_000228		1:209799234
KCNA6	3742	broad.mit.edu	37	12	4919409	4919409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:4919409G>A	ENST00000280684.3	+	1	1068	c.202G>A	c.(202-204)Gga>Aga	p.G68R	KCNA6_ENST00000433855.1_Missense_Mutation_p.G68R|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	68					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CACGCTGCTCGGAGACCCTGG	0.617										HNSCC(72;0.22)																												ENST00000433855.1		NA																	0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(202-204)Gga>Aga		potassium voltage-gated channel, shaker-related subfamily, member 6							44.0	45.0	45.0					12																	4919409		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919409G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.202G>A	12.37:g.4919409G>A	ENSP00000280684:p.Gly68Arg	False	False	HNSCC(72;0.22)	Somatic	0				KCNA6_ENST00000280684.3_Missense_Mutation_p.G68R	p.G68R	NM_002235.3	NP_002226.1	WXS	Illumina HiSeq	Phase_I	P17658	KCNA6_HUMAN			1	1068	+			68						Missense_Mutation	SNP	ENST00000280684.3	37	c.202G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075087	0.76415	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.78364	-1.17;-1.17	4.57	3.68	0.42216	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.056516	0.64402	D	0.000001	D	0.92750	0.7695	H	0.99368	4.535	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94196	0.7445	10	0.87932	D	0	.	11.8345	0.52316	0.085:0.0:0.915:0.0	.	68	P17658	KCNA6_HUMAN	R	68	ENSP00000408321:G68R;ENSP00000280684:G68R	ENSP00000280684:G68R	G	+	1	0	KCNA6	4789670	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	9.484000	0.97940	1.146000	0.42352	0.462000	0.41574	GGA		0.617	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	0	NM_002235		12:4919409
ICE1	23379	broad.mit.edu	37	5	5469027	5469027	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:5469027A>G	ENST00000296564.7	+	15	6370	c.6148A>G	c.(6148-6150)Atg>Gtg	p.M2050V		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2050					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAATAAAGCAATGCAGTTAGT	0.363																																						ENST00000296564.7		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(6148-6150)Atg>Gtg		KIAA0947							130.0	125.0	127.0					5																	5469027		1850	4088	5938	SO:0001583	missense	23379							g.chr5:5469027A>G																												ENST00000296564.7:c.6148A>G	5.37:g.5469027A>G	ENSP00000296564:p.Met2050Val	False	False		Somatic	0					p.M2050V	NM_015325.2	NP_056140.1	WXS	Illumina HiSeq	Phase_I	Q9Y2F5	K0947_HUMAN			15	6370	+			2050					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.6148A>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.909390	0.52439	.	.	ENSG00000164151	ENST00000296564	T	0.11169	2.8	5.86	5.86	0.93980	.	.	.	.	.	T	0.12220	0.0297	L	0.54323	1.7	0.36006	D	0.837716	P	0.42078	0.77	B	0.38683	0.279	T	0.11397	-1.0589	9	0.66056	D	0.02	-3.4778	9.5036	0.39033	0.8427:0.0:0.0:0.1573	.	2050	Q9Y2F5	K0947_HUMAN	V	2050	ENSP00000296564:M2050V	ENSP00000296564:M2050V	M	+	1	0	KIAA0947	5522027	0.998000	0.40836	0.931000	0.37212	0.985000	0.73830	4.050000	0.57404	2.244000	0.73946	0.528000	0.53228	ATG		0.363	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1	0			5:5469027
ADCYAP1	116	broad.mit.edu	37	18	909532	909532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr18:909532C>T	ENST00000579794.1	+	4	705	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.R143C	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	143					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CAGCTACAGCCGCTACCGGAA	0.577																																						ENST00000579794.1		NA																	0				endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(427-429)Cgc>Tgc		adenylate cyclase activating polypeptide 1 (pituitary)							83.0	100.0	94.0					18																	909532		2203	4300	6503	SO:0001583	missense	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:909532C>T	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.427C>T	18.37:g.909532C>T	ENSP00000462647:p.Arg143Cys	False	False		Somatic	0				ADCYAP1_ENST00000450565.3_Missense_Mutation_p.R143C	p.R143C	NM_001117.3	NP_001108.2	WXS	Illumina HiSeq	Phase_I	P18509	PACA_HUMAN			4	705	+			143					B2R7N4|Q52LQ0	Missense_Mutation	SNP	ENST00000579794.1	37	c.427C>T	CCDS11825.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334375	0.95758	.	.	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	5.17	5.17	0.71159	Glucagon/GIP/secretin/VIP (4);	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88814	0.3294	9	0.87932	D	0	.	18.6597	0.91468	0.0:1.0:0.0:0.0	.	143	P18509	PACA_HUMAN	C	282;143;143	.	ENSP00000269200:R143C	R	+	1	0	ADCYAP1	899532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.011000	0.70760	2.391000	0.81399	0.650000	0.86243	CGC		0.577	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	0	NM_001117		18:909532
KRT75	9119	broad.mit.edu	37	12	52827640	52827640	+	Missense_Mutation	SNP	C	C	T	rs201256120		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:52827640C>T	ENST00000252245.5	-	1	669	c.449G>A	c.(448-450)cGc>cAc	p.R150H		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	150	Coil 1A.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GATCTGCTCGCGCTCCTCGGC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		17797	0.001		0.0	False		,,,				2504	0.0					ENST00000252245.5		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(448-450)cGc>cAc		keratin 75							147.0	148.0	148.0					12																	52827640		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52827640C>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.449G>A	12.37:g.52827640C>T	ENSP00000252245:p.Arg150His	False	False		Somatic	0					p.R150H	NM_004693.2	NP_004684.2	WXS	Illumina HiSeq	Phase_I	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	1	669	-			150			Coil 1A.|Rod.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.449G>A	CCDS8827.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.4	4.145521	0.77888	.	.	ENSG00000170454	ENST00000252245	D	0.90133	-2.62	5.74	4.72	0.59763	Filament (1);	0.164522	0.29692	N	0.011442	D	0.94785	0.8316	H	0.94808	3.585	0.30984	N	0.722149	P	0.50943	0.94	P	0.52793	0.709	D	0.94024	0.7295	10	0.87932	D	0	.	9.8904	0.41288	0.0:0.7972:0.0:0.2028	.	150	O95678	K2C75_HUMAN	H	150	ENSP00000252245:R150H	ENSP00000252245:R150H	R	-	2	0	KRT75	51113907	0.984000	0.35163	0.608000	0.28969	0.884000	0.51177	2.211000	0.42825	1.168000	0.42723	0.655000	0.94253	CGC		0.562	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	0	NM_004693		12:52827640
FAM122C	159091	broad.mit.edu	37	X	133948871	133948871	+	Missense_Mutation	SNP	C	C	T	rs201102053		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:133948871C>T	ENST00000370784.4	+	2	587	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FAM122C_ENST00000414371.2_Missense_Mutation_p.R97C|FAM122C_ENST00000370785.3_Missense_Mutation_p.R61C|FAM122C_ENST00000445123.1_5'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	61								p.R61C(2)		endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TAGGAATCGACGCTCTCTGGT	0.388													C|||	1	0.000264901	0.0	0.0014	3775	,	,		12560	0.0		0.0	False		,,,				2504	0.0					ENST00000414371.2		NA																	2	Substitution - Missense(2)	p.R61C(2)	endometrium(2)	endometrium(2)|kidney(1)|lung(2)	5						c.(289-291)Cgc>Tgc		family with sequence similarity 122C		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3835		0,0,1632,571	113.0	110.0	111.0		181,289,181,181,181,181	4.5	0.0	X		111	1,6727		0,1,2427,1872	no	missense,missense,missense,missense,missense,missense	FAM122C	NM_001170779.1,NM_001170780.1,NM_001170782.1,NM_001170783.1,NM_001170784.1,NM_138819.3	180,180,180,180,180,180	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	61/196,97/116,61/97,61/80,61/80,61/153	133948871	1,10562	2203	4300	6503	SO:0001583	missense	159091							g.chrX:133948871C>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.181C>T	X.37:g.133948871C>T	ENSP00000359820:p.Arg61Cys	False	False		Somatic	0				FAM122C_ENST00000370785.3_Missense_Mutation_p.R61C|FAM122C_ENST00000370784.4_Missense_Mutation_p.R61C|FAM122C_ENST00000445123.1_5'UTR	p.R97C	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	WXS	Illumina HiSeq	Phase_I	Q6P4D5	F222C_HUMAN			4	462	+	Acute lymphoblastic leukemia(192;0.000127)		61					F5H036|Q8WVK9	Missense_Mutation	SNP	ENST00000370784.4	37	c.289C>T	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523793	0.27299	0.0	1.49E-4	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	T;T;T	0.55588	0.51;0.51;0.51	5.37	4.5	0.54988	.	0.409996	0.29480	N	0.012036	T	0.26340	0.0643	N	0.08118	0	0.22571	N	0.998978	B;P;P;P	0.38048	0.386;0.616;0.616;0.616	B;B;B;B	0.19666	0.016;0.016;0.016;0.026	T	0.13899	-1.0492	10	0.66056	D	0.02	-9.8706	10.5203	0.44914	0.1931:0.8069:0.0:0.0	.	97;61;61;61	F5H036;Q6P4D5;Q6P4D5-2;Q6P187	.;F222C_HUMAN;.;.	C	97;61;61	ENSP00000402477:R97C;ENSP00000359820:R61C;ENSP00000359821:R61C	ENSP00000359820:R61C	R	+	1	0	FAM122C	133776537	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.685000	0.25378	1.031000	0.39867	0.579000	0.79373	CGC		0.388	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	NM_138819		X:133948871
ACOT8	10005	broad.mit.edu	37	20	44470483	44470483	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr20:44470483C>A	ENST00000217455.4	-	6	1044	c.954G>T	c.(952-954)aaG>aaT	p.K318N	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	318					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CTGGCTACAGCTTGCTCTCTG	0.597																																						ENST00000217455.4		NA																	0				kidney(2)|large_intestine(3)|lung(4)|skin(1)	10						c.(952-954)aaG>aaT		acyl-CoA thioesterase 8							36.0	39.0	38.0					20																	44470483		2203	4300	6503	SO:0001583	missense	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44470483C>A	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.954G>T	20.37:g.44470483C>A	ENSP00000217455:p.Lys318Asn	False	False		Somatic	0				SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron	p.K318N	NM_005469.3	NP_005460.2	WXS	Illumina HiSeq	Phase_I	O14734	ACOT8_HUMAN			6	1044	-		Myeloproliferative disorder(115;0.0122)	318					O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	37	c.954G>T	CCDS13378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.55|14.55	2.567729|2.567729	0.45798|0.45798	.|.	.|.	ENSG00000101473|ENSG00000101473	ENST00000217455|ENST00000487205	.|.	.|.	.|.	5.02|5.02	3.08|3.08	0.35506|0.35506	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69975|0.69975	0.3171|0.3171	M|M	0.75085|0.75085	2.285|2.285	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.52577|.	0.954|.	P|.	0.47981|.	0.563|.	T|T	0.67941|0.67941	-0.5540|-0.5540	9|5	0.87932|.	D|.	0|.	.|.	10.304|10.304	0.43670|0.43670	0.0:0.7778:0.0:0.2222|0.0:0.7778:0.0:0.2222	.|.	318|.	O14734|.	ACOT8_HUMAN|.	N|I	318|208	.|.	ENSP00000217455:K318N|.	K|S	-|-	3|2	2|0	ACOT8|ACOT8	43903890|43903890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.245000|0.245000	0.25701|0.25701	1.271000|1.271000	0.33098|0.33098	0.694000|0.694000	0.31654|0.31654	0.561000|0.561000	0.74099|0.74099	AAG|AGC		0.597	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	0	NM_183386		20:44470483
MDGA2	161357	broad.mit.edu	37	14	47343251	47343251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:47343251C>A	ENST00000399232.2	-	13	2747	c.2383G>T	c.(2383-2385)Gaa>Taa	p.E795*	MDGA2_ENST00000357362.3_Nonsense_Mutation_p.E566*|MDGA2_ENST00000426342.1_Nonsense_Mutation_p.E566*|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.3_Nonsense_Mutation_p.E864*	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	795	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCATACCTTCTTTGGAGCCA	0.333																																						ENST00000426342.1		NA																	0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1696-1698)Gaa>Taa		MAM domain containing glycosylphosphatidylinositol anchor 2							174.0	163.0	167.0					14																	47343251		1837	4091	5928	SO:0001587	stop_gained	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47343251C>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2383G>T	14.37:g.47343251C>A	ENSP00000382178:p.Glu795*	True	False		Somatic	0				MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000357362.3_Nonsense_Mutation_p.E566*|MDGA2_ENST00000439988.3_Nonsense_Mutation_p.E864*|MDGA2_ENST00000399232.2_Nonsense_Mutation_p.E795*	p.E566*	NM_182830.3	NP_878250.2	WXS	Illumina HiSeq	Phase_I	Q7Z553	MDGA2_HUMAN			13	2442	-			795			Ig-like 6.		F6W3S7|J3KPX6	Nonsense_Mutation	SNP	ENST00000399232.2	37	c.1696G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.552354	0.97658	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.	.	.	5.17	5.17	0.71159	.	0.270115	0.25310	U	0.031594	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.0473	0.58933	0.0:0.8381:0.1619:0.0	.	.	.	.	X	795;566;864;566	.	ENSP00000349925:E566X	E	-	1	0	MDGA2	46413001	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.163000	0.71880	2.395000	0.81488	0.467000	0.42956	GAA		0.333	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	0	NM_182830		14:47343251
IGSF22	283284	broad.mit.edu	37	11	18736168	18736168	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:18736168C>T	ENST00000513874.1	-	12	1674	c.1535G>A	c.(1534-1536)cGt>cAt	p.R512H	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	512								p.R512H(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGTGGCCAGACGCTCTGGGGA	0.612																																						ENST00000513874.1		NA																	2	Substitution - Missense(2)	p.R512H(2)	endometrium(2)	NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1534-1536)cGt>cAt		immunoglobulin superfamily, member 22							54.0	55.0	55.0					11																	18736168		2063	4203	6266	SO:0001583	missense	283284							g.chr11:18736168C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1535G>A	11.37:g.18736168C>T	ENSP00000421191:p.Arg512His	False	False		Somatic	0				RP11-1081L13.4_ENST00000527285.1_RNA	p.R512H	NM_173588.3	NP_775859	WXS	Illumina HiSeq	Phase_I	Q8N9C0	IGS22_HUMAN			12	1674	-			512					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1535G>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209186	0.58343	.	.	ENSG00000179057	ENST00000513874	T	0.55588	0.51	4.51	1.44	0.22558	.	0.444637	0.16671	N	0.204344	T	0.52191	0.1719	L	0.39898	1.24	0.09310	N	1	D	0.76494	0.999	P	0.57101	0.813	T	0.40701	-0.9549	10	0.51188	T	0.08	.	6.6056	0.22724	0.0:0.6562:0.0:0.3438	.	512	D6RGV7	.	H	512	ENSP00000421191:R512H	ENSP00000322422:R512H	R	-	2	0	IGSF22	18692744	0.359000	0.24955	0.086000	0.20670	0.924000	0.55760	0.834000	0.27518	0.003000	0.14656	0.551000	0.68910	CGT		0.612	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	0	NM_173588		11:18736168
NDST3	9348	broad.mit.edu	37	4	119161830	119161830	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:119161830T>C	ENST00000296499.5	+	11	2673	c.2270T>C	c.(2269-2271)gTt>gCt	p.V757A		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	757	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGATGGCTTGTTTATTTCCCC	0.458																																						ENST00000296499.5		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(2269-2271)gTt>gCt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							82.0	76.0	78.0					4																	119161830		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119161830T>C	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2270T>C	4.37:g.119161830T>C	ENSP00000296499:p.Val757Ala	True	False		Somatic	0					p.V757A	NM_004784.2	NP_004775.1	WXS	Illumina HiSeq	Phase_I	O95803	NDST3_HUMAN			11	2673	+			757			Heparan sulfate N-sulfotransferase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.2270T>C	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	T	8.239	0.806313	0.16467	.	.	ENSG00000164100	ENST00000296499	T	0.50548	0.74	5.49	2.98	0.34508	Sulfotransferase domain (1);	0.452871	0.23700	N	0.045428	T	0.11067	0.0270	N	0.00595	-1.35	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27673	-1.0067	10	0.09084	T	0.74	.	1.7572	0.02984	0.2575:0.2262:0.0:0.5164	.	757	O95803	NDST3_HUMAN	A	757	ENSP00000296499:V757A	ENSP00000296499:V757A	V	+	2	0	NDST3	119381278	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	2.840000	0.48215	2.212000	0.71576	0.533000	0.62120	GTT		0.458	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	0	NM_004784		4:119161830
EP400	57634	broad.mit.edu	37	12	132446055	132446055	+	Silent	SNP	A	A	G	rs185428452		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:132446055A>G	ENST00000333577.4	+	2	1000	c.891A>G	c.(889-891)acA>acG	p.T297T	EP400_ENST00000330386.6_Silent_p.T297T|EP400_ENST00000389562.2_Silent_p.T297T|EP400_ENST00000389561.2_Silent_p.T297T|EP400_ENST00000332482.4_Silent_p.T297T			Q96L91	EP400_HUMAN	E1A binding protein p400	297					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.T297T(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGAGAGGACACCCGGCGTGC	0.736																																						ENST00000333577.4		NA																	1	Substitution - coding silent(1)	p.T297T(1)	kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(889-891)acA>acG		E1A binding protein p400							7.0	9.0	8.0					12																	132446055		2114	4115	6229	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132446055A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.891A>G	12.37:g.132446055A>G		True	False		Somatic	0				EP400_ENST00000330386.6_Silent_p.T297T|EP400_ENST00000389562.2_Silent_p.T297T|EP400_ENST00000332482.4_Silent_p.T297T|EP400_ENST00000389561.2_Silent_p.T297T	p.T297T			WXS	Illumina HiSeq	Phase_I	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	2	1000	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	297					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.891A>G																																																																																					0.736	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	NM_015409		12:132446055
ADAD2	161931	broad.mit.edu	37	16	84228111	84228111	+	Missense_Mutation	SNP	C	C	T	rs577228328		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:84228111C>T	ENST00000315906.5	+	2	534	c.482C>T	c.(481-483)gCg>gTg	p.A161V	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.A233V|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	161	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCGGGCACTGCGAATAGCAAG	0.652																																						ENST00000268624.3		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(697-699)gCg>gTg		adenosine deaminase domain containing 2							37.0	36.0	37.0					16																	84228111		2200	4300	6500	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84228111C>T	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.482C>T	16.37:g.84228111C>T	ENSP00000325153:p.Ala161Val	False	False		Somatic	0				ADAD2_ENST00000315906.5_Missense_Mutation_p.A161V|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	p.A233V	NM_139174.3	NP_631913.3	WXS	Illumina HiSeq	Phase_I	Q8NCV1	ADAD2_HUMAN			3	791	+			161					B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.698C>T	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922921	0.33908	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.77098	-1.07;-1.07	4.15	0.639	0.17747	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.434885	0.19591	N	0.110615	T	0.72558	0.3475	L	0.29908	0.895	0.09310	N	1	D;P	0.61697	0.99;0.951	P;B	0.51945	0.685;0.32	T	0.66160	-0.5993	10	0.56958	D	0.05	-10.474	11.4451	0.50118	0.0:0.4186:0.5814:0.0	.	161;233	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	V	161;233	ENSP00000325153:A161V;ENSP00000268624:A233V	ENSP00000268624:A233V	A	+	2	0	ADAD2	82785612	0.040000	0.19996	0.001000	0.08648	0.003000	0.03518	0.694000	0.25512	0.449000	0.26747	0.511000	0.50034	GCG		0.652	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	0	NM_139174		16:84228111
CR1	1378	broad.mit.edu	37	1	207669664	207669664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:207669664G>A	ENST00000367049.4	+	1	52	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	CR1_ENST00000367052.1_Missense_Mutation_p.G18S|CR1_ENST00000400960.2_Missense_Mutation_p.G18S|CR1_ENST00000367051.1_Missense_Mutation_p.G18S|CR1_ENST00000367053.1_Missense_Mutation_p.G18S|CR1_ENST00000367050.4_3'UTR	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	18					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCGGCGCCCGGTCTCCCCTT	0.662																																						ENST00000367049.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(52-54)Ggt>Agt		complement component (3b/4b) receptor 1 (Knops blood group)							19.0	24.0	22.0					1																	207669664		1836	4070	5906	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207669664G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.52G>A	1.37:g.207669664G>A	ENSP00000356016:p.Gly18Ser	True	False		Somatic	0				CR1_ENST00000400960.2_Missense_Mutation_p.G18S|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Missense_Mutation_p.G18S|CR1_ENST00000367052.1_Missense_Mutation_p.G18S|CR1_ENST00000367053.1_Missense_Mutation_p.G18S	p.G18S	NM_000651.4	NP_000642.3	WXS	Illumina HiSeq	Phase_I	P17927	CR1_HUMAN			1	52	+			18					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.52G>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	4.819	0.152215	0.09185	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.30448	1.55;1.68;1.55;1.55;1.71;1.53	3.35	-6.11	0.02131	.	.	.	.	.	T	0.10723	0.0262	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.34725	-0.9817	9	0.10902	T	0.67	.	6.0568	0.19816	0.0:0.1689:0.4:0.4311	.	18;18;18;18	Q5SR44;E9PQN4;P17927;E9PDY4	.;.;CR1_HUMAN;.	S	18	ENSP00000356019:G18S;ENSP00000356018:G18S;ENSP00000356020:G18S;ENSP00000383744:G18S;ENSP00000436139:G18S;ENSP00000356016:G18S	ENSP00000356016:G18S	G	+	1	0	CR1	205736287	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.223000	0.01214	-1.493000	0.01835	-0.203000	0.12734	GGT		0.662	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	0	NM_000573		1:207669664
C7	730	broad.mit.edu	37	5	40947725	40947725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:40947725G>A	ENST00000313164.9	+	8	1119	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	254	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GCTGGTTGTTGAGAACACTGT	0.408																																						ENST00000313164.9		NA																	0					NA						c.(760-762)Gag>Aag		complement component 7							57.0	55.0	56.0					5																	40947725		1851	4102	5953	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40947725G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.760G>A	5.37:g.40947725G>A	ENSP00000322061:p.Glu254Lys	False	False		Somatic	0					p.E254K	NM_000587.2	NP_000578.2	WXS	Illumina HiSeq	Phase_I	P10643	CO7_HUMAN			8	1119	+		Ovarian(839;0.0112)	254			MACPF.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.760G>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	0.158	-1.083866	0.01888	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.81821	-1.54	5.9	4.05	0.47172	Membrane attack complex component/perforin (MACPF) domain (3);	0.235442	0.44483	D	0.000452	T	0.50480	0.1618	N	0.01464	-0.85	0.25030	N	0.991275	B	0.10296	0.003	B	0.15052	0.012	T	0.39272	-0.9622	10	0.02654	T	1	-10.741	10.8024	0.46495	0.1164:0.5032:0.3804:0.0	.	254	P10643	CO7_HUMAN	K	254	ENSP00000322061:E254K	ENSP00000322061:E254K	E	+	1	0	C7	40983482	1.000000	0.71417	0.982000	0.44146	0.213000	0.24496	1.445000	0.35079	1.452000	0.47756	-0.219000	0.12488	GAG		0.408	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1	0			5:40947725
MUC20	200958	broad.mit.edu	37	3	195453211	195453211	+	Silent	SNP	C	C	T	rs373456247		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:195453211C>T	ENST00000447234.2	+	2	1863	c.1737C>T	c.(1735-1737)gcC>gcT	p.A579A	MUC20_ENST00000320736.6_Silent_p.A408A|MUC20_ENST00000436408.1_Silent_p.A579A|MUC20_ENST00000445522.2_Silent_p.A544A	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	579	Involved in oligomerization.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCTCGGAAGCCGCCCTCAAGA	0.602																																						ENST00000320736.6		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(1222-1224)gcC>gcT		mucin 20, cell surface associated		C	,	1,4069		0,1,2034	62.0	60.0	60.0		1119,1224	-1.7	0.0	3		60	0,8398		0,0,4199	no	coding-synonymous,coding-synonymous	MUC20	NM_001098516.1,NM_152673.2	,	0,1,6233	TT,TC,CC		0.0,0.0246,0.0080	,	373/504,408/539	195453211	1,12467	2035	4199	6234	SO:0001819	synonymous_variant	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195453211C>T	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1737C>T	3.37:g.195453211C>T		False	False		Somatic	0				MUC20_ENST00000447234.2_Silent_p.A579A|MUC20_ENST00000445522.2_Silent_p.A544A|MUC20_ENST00000436408.1_Silent_p.A579A	p.A408A			WXS	Illumina HiSeq	Phase_I	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1350	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	579					Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	ENST00000447234.2	37	c.1224C>T																																																																																					0.602	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	0	NM_152673		3:195453211
CELP	1057	broad.mit.edu	37	9	135962203	135962203	+	RNA	SNP	C	C	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr9:135962203C>G	ENST00000411440.2	+	0	710					NR_001275.2				carboxyl ester lipase pseudogene																		CGGCTGTGCCCACACACTGGG	0.617																																						ENST00000411440.2		NA																	0					NA																																														0							g.chr9:135962203C>G	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962203C>G		True	False		Somatic	0						NR_001275.2		WXS	Illumina HiSeq	Phase_I					0	710	+			NA						RNA	SNP	ENST00000411440.2	37																																																																																						0.617	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	0	NM_001808		9:135962203
FN1	2335	broad.mit.edu	37	2	216271856	216271856	+	Missense_Mutation	SNP	G	G	A	rs371435589		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:216271856G>A	ENST00000359671.1	-	18	2972	c.2707C>T	c.(2707-2709)Cgc>Tgc	p.R903C	FN1_ENST00000336916.4_Missense_Mutation_p.R903C|FN1_ENST00000432072.2_Missense_Mutation_p.R903C|FN1_ENST00000346544.3_Missense_Mutation_p.R903C|FN1_ENST00000354785.4_Missense_Mutation_p.R903C|FN1_ENST00000357009.2_Missense_Mutation_p.R903C|FN1_ENST00000356005.4_Missense_Mutation_p.R903C|FN1_ENST00000345488.5_Missense_Mutation_p.R903C|FN1_ENST00000357867.4_Missense_Mutation_p.R903C|FN1_ENST00000446046.1_Missense_Mutation_p.R903C|FN1_ENST00000443816.1_Missense_Mutation_p.R903C|FN1_ENST00000323926.6_Missense_Mutation_p.R903C|FN1_ENST00000421182.1_Missense_Mutation_p.R903C			P02751	FINC_HUMAN	fibronectin 1	903	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TTACCTGAGCGTGGGGTGCCA	0.408																																						ENST00000354785.4		NA																FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(2707-2709)Cgc>Tgc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						112.0	111.0	112.0					2																	216271856		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216271856G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2707C>T	2.37:g.216271856G>A	ENSP00000352696:p.Arg903Cys	False	False		Somatic	0				FN1_ENST00000323926.6_Missense_Mutation_p.R903C|FN1_ENST00000421182.1_Missense_Mutation_p.R903C|FN1_ENST00000336916.4_Missense_Mutation_p.R903C|FN1_ENST00000432072.2_Missense_Mutation_p.R903C|FN1_ENST00000346544.3_Missense_Mutation_p.R903C|FN1_ENST00000345488.5_Missense_Mutation_p.R903C|FN1_ENST00000357867.4_Missense_Mutation_p.R903C|FN1_ENST00000443816.1_Missense_Mutation_p.R903C|FN1_ENST00000359671.1_Missense_Mutation_p.R903C|FN1_ENST00000446046.1_Missense_Mutation_p.R903C|FN1_ENST00000356005.4_Missense_Mutation_p.R903C|FN1_ENST00000357009.2_Missense_Mutation_p.R903C	p.R903C			WXS	Illumina HiSeq	Phase_I	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	18	3076	-		Renal(323;0.127)	903					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.2707C>T		.	.	.	.	.	.	.	.	.	.	G	11.57	1.676889	0.29783	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.49139	0.79;2.17;2.35;0.88;2.42;2.06;2.39;2.05;2.35;2.09;1.56;0.87;1.46	5.47	4.59	0.56863	.	0.100271	0.45361	D	0.000372	T	0.61009	0.2313	L	0.47716	1.5	0.09310	N	0.999992	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0;0.987;1.0;1.0;0.976;0.996	P;P;D;D;P;P;D;D;P;P	0.70487	0.888;0.886;0.962;0.969;0.899;0.781;0.915;0.969;0.814;0.814	T	0.56920	-0.7899	10	0.87932	D	0	.	14.258	0.66065	0.0:0.0:0.7303:0.2697	.	903;903;903;903;903;903;903;903;903;903	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	C	903	ENSP00000394423:R903C;ENSP00000323534:R903C;ENSP00000338200:R903C;ENSP00000350534:R903C;ENSP00000346839:R903C;ENSP00000352696:R903C;ENSP00000265312:R903C;ENSP00000273049:R903C;ENSP00000349509:R903C;ENSP00000410422:R903C;ENSP00000415018:R903C;ENSP00000399538:R903C;ENSP00000348285:R903C	ENSP00000265313:R903C	R	-	1	0	FN1	215980101	0.331000	0.24713	0.660000	0.29694	0.056000	0.15407	2.273000	0.43381	1.272000	0.44329	0.655000	0.94253	CGC		0.408	FN1-204	KNOWN	basic	protein_coding	protein_coding		0	NM_212476		2:216271856
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:38591931C>G	ENST00000333535.4	-	28	6081	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGACACTGTCATAGGAGGGT	0.602																																						ENST00000413689.1		NA																	0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5932-5934)Gac>Cac		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						42.0	47.0	45.0					3																	38591931		2022	4172	6194	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38591931C>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5932G>C	3.37:g.38591931C>G	ENSP00000328968:p.Asp1978His	False	False		Somatic	0				SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1978H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H	p.D1978H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	WXS	Illumina HiSeq	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	6125	-	Medulloblastoma(35;0.163)		1978					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5932G>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565807	0.65651	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96856	-4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08	4.95	4.95	0.65309	.	0.058474	0.64402	D	0.000003	D	0.95529	0.8547	N	0.08118	0	0.54753	D	0.999986	D;D;P;D;D;D	0.89917	0.959;1.0;0.64;0.999;0.958;1.0	P;D;B;D;P;D	0.85130	0.496;0.997;0.387;0.973;0.693;0.996	D	0.97067	0.9775	10	0.62326	D	0.03	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1924;1945;1960;1978;1977;1978	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1960;1977;1978;1924;1977;1960;1978;1945;1924;1924	ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H	ENSP00000328968:D1978H	D	-	1	0	SCN5A	38566935	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.781000	0.62389	2.573000	0.86826	0.655000	0.94253	GAC		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	NM_198056		3:38591931
PKD1L1	168507	broad.mit.edu	37	7	47944116	47944116	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:47944116G>A	ENST00000289672.2	-	12	1840	c.1790C>T	c.(1789-1791)aCg>aTg	p.T597M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	597	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAGGGGGACGTGAGCCGATT	0.542																																						ENST00000289672.2		NA																BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(1789-1791)aCg>aTg		polycystic kidney disease 1 like 1							105.0	80.0	88.0					7																	47944116		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47944116G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1790C>T	7.37:g.47944116G>A	ENSP00000289672:p.Thr597Met	False	False		Somatic	0					p.T597M	NM_138295.3	NP_612152.1	WXS	Illumina HiSeq	Phase_I	Q8TDX9	PK1L1_HUMAN			12	1840	-			597			PKD 2.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.1790C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	3.658	-0.070119	0.07228	.	.	ENSG00000158683	ENST00000289672	T	0.68181	-0.31	4.9	-3.89	0.04193	PKD/Chitinase domain (1);PKD domain (2);	3.200300	0.00966	N	0.003172	T	0.54447	0.1859	L	0.29908	0.895	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.41413	-0.9510	10	0.32370	T	0.25	0.1517	10.9535	0.47343	0.5301:0.0:0.4699:0.0	.	597	Q8TDX9	PK1L1_HUMAN	M	597	ENSP00000289672:T597M	ENSP00000289672:T597M	T	-	2	0	PKD1L1	47910641	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.434000	0.06939	-0.854000	0.04131	-1.177000	0.01723	ACG		0.542	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	0	NM_138295		7:47944116
KIAA1109	84162	broad.mit.edu	37	4	123168391	123168391	+	Silent	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:123168391G>A	ENST00000264501.4	+	35	5764	c.5391G>A	c.(5389-5391)aaG>aaA	p.K1797K	KIAA1109_ENST00000388738.3_Silent_p.K1797K|KIAA1109_ENST00000455637.1_Silent_p.K1797K			Q2LD37	K1109_HUMAN	KIAA1109	1797					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K1797N(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGCCACAAAGATGCAGCCTC	0.393																																						ENST00000264501.4		NA																	1	Substitution - Missense(1)	p.K1797N(1)	large_intestine(1)	breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(5389-5391)aaG>aaA		KIAA1109							90.0	85.0	87.0					4																	123168391		1890	4125	6015	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123168391G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5391G>A	4.37:g.123168391G>A		True	False		Somatic	0				KIAA1109_ENST00000388738.3_Silent_p.K1797K|KIAA1109_ENST00000455637.1_Silent_p.K1797K	p.K1797K			WXS	Illumina HiSeq	Phase_I	Q2LD37	K1109_HUMAN			35	5764	+			1797					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.5391G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	9.151	1.016388	0.19355	.	.	ENSG00000138688	ENST00000446180	.	.	.	5.77	3.8	0.43715	.	.	.	.	.	T	0.47930	0.1472	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43245	-0.9403	4	.	.	.	.	4.272	0.10791	0.4492:0.0:0.5508:0.0	.	.	.	.	K	370	.	.	R	+	2	0	KIAA1109	123387841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.004000	0.49513	1.449000	0.47699	0.585000	0.79938	AGA		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	0	NM_020797		4:123168391
KPRP	448834	broad.mit.edu	37	1	152732688	152732688	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:152732688C>T	ENST00000606109.1	+	1	652	c.624C>T	c.(622-624)ttC>ttT	p.F208F	KPRP_ENST00000368773.1_Silent_p.F208F			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	208	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCCCAGTTCCAGTTGAGGC	0.562																																						ENST00000368773.1		NA																	0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(622-624)ttC>ttT		keratinocyte proline-rich protein							161.0	160.0	160.0					1																	152732688		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152732688C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.624C>T	1.37:g.152732688C>T		True	False		Somatic	0				KPRP_ENST00000606109.1_Silent_p.F208F	p.F208F	NM_001025231.1	NP_001020402.1	WXS	Illumina HiSeq	Phase_I	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	682	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		208			Gln-rich.			Silent	SNP	ENST00000606109.1	37	c.624C>T	CCDS30862.1																																																																																				0.562	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	0	NM_001025231		1:152732688
NTM	50863	broad.mit.edu	37	11	132180047	132180047	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:132180047G>A	ENST00000374786.1	+	5	1182	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	NTM_ENST00000539799.1_Missense_Mutation_p.V235M|NTM_ENST00000374784.1_Missense_Mutation_p.V235M|NTM_ENST00000425719.2_Missense_Mutation_p.V235M|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.V235M|NTM_ENST00000427481.2_Missense_Mutation_p.V226M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	235	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGGTGTCCCCGTGGGACAAAA	0.468																																						ENST00000374786.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(703-705)Gtg>Atg		neurotrimin							141.0	142.0	142.0					11																	132180047		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132180047G>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.703G>A	11.37:g.132180047G>A	ENSP00000363918:p.Val235Met	True	False		Somatic	0				NTM_ENST00000374791.3_Missense_Mutation_p.V235M|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Missense_Mutation_p.V235M|NTM_ENST00000425719.2_Missense_Mutation_p.V235M|NTM_ENST00000427481.2_Missense_Mutation_p.V226M|NTM_ENST00000374784.1_Missense_Mutation_p.V235M	p.V235M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	WXS	Illumina HiSeq	Phase_I	Q9P121	NTRI_HUMAN			5	1182	+			235			Ig-like C2-type 3.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.703G>A	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443598	0.83993	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.053565	0.85682	D	0.000000	T	0.79741	0.4498	M	0.76938	2.355	0.58432	D	0.999997	D;P;P;P;P;P	0.57899	0.981;0.955;0.723;0.88;0.723;0.855	P;B;B;B;B;B	0.47786	0.557;0.418;0.216;0.418;0.294;0.294	T	0.80850	-0.1198	10	0.48119	T	0.1	-13.6786	16.051	0.80763	0.0:0.1333:0.8667:0.0	.	235;226;235;235;235;235	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	M	235;235;226;235;235;235	ENSP00000363923:V235M;ENSP00000437668:V235M;ENSP00000416320:V226M;ENSP00000363918:V235M;ENSP00000396722:V235M;ENSP00000363916:V235M	ENSP00000363916:V235M	V	+	1	0	NTM	131685257	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	3.772000	0.55325	2.884000	0.98904	0.655000	0.94253	GTG		0.468	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	0	NM_016522		11:132180047
ITGB4	3691	broad.mit.edu	37	17	73728266	73728266	+	Missense_Mutation	SNP	G	G	T	rs561481314		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:73728266G>T	ENST00000200181.3	+	12	1587	c.1400G>T	c.(1399-1401)cGc>cTc	p.R467L	ITGB4_ENST00000450894.3_Missense_Mutation_p.R467L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.R467L|ITGB4_ENST00000579662.1_Missense_Mutation_p.R467L|ITGB4_ENST00000449880.2_Missense_Mutation_p.R467L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	467	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGTCAGCTCGCTGCAGCTTC	0.637																																						ENST00000200181.3		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1399-1401)cGc>cTc		integrin, beta 4							129.0	107.0	115.0					17																	73728266		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73728266G>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1400G>T	17.37:g.73728266G>T	ENSP00000200181:p.Arg467Leu	False	False		Somatic	0				ITGB4_ENST00000339591.3_Missense_Mutation_p.R467L|ITGB4_ENST00000450894.3_Missense_Mutation_p.R467L|ITGB4_ENST00000579662.1_Missense_Mutation_p.R467L|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.R467L	p.R467L	NM_000213.3	NP_000204.3	WXS	Illumina HiSeq	Phase_I	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		12	1587	+	all_cancers(13;1.5e-07)		467			Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.1400G>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	9.585	1.124722	0.20959	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.74737	-0.87;-0.81;-0.81	5.16	-6.43	0.01926	.	0.616465	0.14523	N	0.314320	T	0.43122	0.1233	N	0.11927	0.2	0.20196	N	0.999928	B;B;B;B;P	0.42735	0.015;0.109;0.432;0.306;0.788	B;B;B;B;B	0.37692	0.007;0.047;0.256;0.131;0.198	T	0.47018	-0.9149	10	0.49607	T	0.09	.	1.7767	0.03023	0.3493:0.0822:0.3089:0.2596	.	427;467;467;467;467	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	L	383;467;467;467	ENSP00000200181:R467L;ENSP00000344079:R467L;ENSP00000400217:R467L	ENSP00000200181:R467L	R	+	2	0	ITGB4	71239861	0.000000	0.05858	0.132000	0.22025	0.612000	0.37316	-0.551000	0.06027	-1.057000	0.03201	-0.136000	0.14681	CGC		0.637	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1	0			17:73728266
DNMT1	1786	broad.mit.edu	37	19	10283847	10283847	+	Silent	SNP	A	A	C	rs61758429		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:10283847A>C	ENST00000340748.4	-	8	874	c.639T>G	c.(637-639)gtT>gtG	p.V213V	DNMT1_ENST00000540357.1_Silent_p.V213V|DNMT1_ENST00000359526.4_Silent_p.V229V			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	213	Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GCGGTCTAGCAACTCTGTCAA	0.448																																						ENST00000340748.4		NA																	0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(637-639)gtT>gtG		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						110.0	95.0	100.0					19																	10283847		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10283847A>C	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.639T>G	19.37:g.10283847A>C		False	False		Somatic	0				DNMT1_ENST00000540357.1_Silent_p.V213V|DNMT1_ENST00000359526.4_Silent_p.V229V	p.V213V			WXS	Illumina HiSeq	Phase_I	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		8	874	-			213			Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.639T>G	CCDS12228.1																																																																																				0.448	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	0	NM_001379		19:10283847
LRP2	4036	broad.mit.edu	37	2	170177381	170177381	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:170177381C>T	ENST00000263816.3	-	2	378	c.93G>A	c.(91-93)gcG>gcA	p.A31A	LRP2_ENST00000443831.1_Silent_p.A31A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	31	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A31A(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGCGAAAATGCGCACTGTCAC	0.388																																						ENST00000263816.3		NA																	1	Substitution - coding silent(1)	p.A31A(1)	breast(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(91-93)gcG>gcA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						113.0	96.0	102.0					2																	170177381		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170177381C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.93G>A	2.37:g.170177381C>T		False	False		Somatic	0				LRP2_ENST00000443831.1_Silent_p.A31A	p.A31A	NM_004525.2	NP_004516.2	WXS	Illumina HiSeq	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	2	378	-			31			LDL-receptor class A 1.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.93G>A	CCDS2232.1																																																																																				0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	0	NM_004525		2:170177381
GRIK5	2901	broad.mit.edu	37	19	42563599	42563599	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:42563599G>A	ENST00000262895.3	-	5	588	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	GRIK5_ENST00000301218.4_Missense_Mutation_p.R197W|GRIK5_ENST00000593562.1_Missense_Mutation_p.R197W	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	197					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GTGGGGTCCCGGCTGTCGTCC	0.602																																						ENST00000262895.3		NA																	0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(589-591)Cgg>Tgg		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						147.0	115.0	126.0					19																	42563599		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42563599G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.589C>T	19.37:g.42563599G>A	ENSP00000262895:p.Arg197Trp	True	False		Somatic	0				GRIK5_ENST00000301218.4_Missense_Mutation_p.R197W|GRIK5_ENST00000593562.1_Missense_Mutation_p.R197W	p.R197W	NM_002088.4	NP_002079.3	WXS	Illumina HiSeq	Phase_I	Q16478	GRIK5_HUMAN			5	588	-		Prostate(69;0.059)	197					Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.589C>T	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894921	0.52121	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	D;D	0.83163	-1.69;-1.69	4.64	4.64	0.57946	Extracellular ligand-binding receptor (1);	0.635417	0.15154	N	0.277543	T	0.71005	0.3289	N	0.16478	0.41	0.40112	D	0.976504	B	0.18166	0.026	B	0.15052	0.012	T	0.69143	-0.5223	10	0.59425	D	0.04	.	10.6544	0.45667	0.0:0.0:0.6912:0.3088	.	197	Q16478	GRIK5_HUMAN	W	197	ENSP00000262895:R197W;ENSP00000301218:R197W	ENSP00000262895:R197W	R	-	1	2	GRIK5	47255439	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.442000	0.52900	2.289000	0.77006	0.561000	0.74099	CGG		0.602	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1	0			19:42563599
PSKH2	85481	broad.mit.edu	37	8	87060706	87060706	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:87060706C>T	ENST00000276616.2	-	3	1217	c.1143G>A	c.(1141-1143)ctG>ctA	p.L381L		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	381							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			AAAGCGCAGACAGTGGCGATT	0.433																																						ENST00000276616.2		NA																	0				NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47						c.(1141-1143)ctG>ctA		protein serine kinase H2							99.0	100.0	99.0					8																	87060706		2203	4300	6503	SO:0001819	synonymous_variant	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87060706C>T	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.1143G>A	8.37:g.87060706C>T		False	False		Somatic	0					p.L381L	NM_033126.1	NP_149117.1	WXS	Illumina HiSeq	Phase_I	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		3	1217	-			381					A0AV22	Silent	SNP	ENST00000276616.2	37	c.1143G>A	CCDS6240.1																																																																																				0.433	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	0	NM_033126		8:87060706
KRT77	374454	broad.mit.edu	37	12	53097128	53097128	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:53097128T>C	ENST00000341809.3	-	1	119	c.91A>G	c.(91-93)Agt>Ggt	p.S31G	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	31	Head.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACTGCCGGACTCCCACCACCA	0.532																																						ENST00000341809.3		NA																	0				NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(91-93)Agt>Ggt		keratin 77							82.0	88.0	86.0					12																	53097128		2203	4300	6503	SO:0001583	missense	374454					keratin filament	structural molecule activity	g.chr12:53097128T>C	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.91A>G	12.37:g.53097128T>C	ENSP00000342710:p.Ser31Gly	True	False		Somatic	0				KRT77_ENST00000537195.1_5'UTR	p.S31G	NM_175078.2	NP_778253.2	WXS	Illumina HiSeq	Phase_I	Q7Z794	K2C1B_HUMAN			1	119	-			31			Head.		Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	c.91A>G	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	T	9.588	1.125287	0.20959	.	.	ENSG00000189182	ENST00000341809	D	0.85629	-2.01	4.63	2.25	0.28309	.	.	.	.	.	T	0.77725	0.4173	L	0.46741	1.465	0.34255	D	0.679289	B	0.06786	0.001	B	0.06405	0.002	T	0.72367	-0.4315	9	0.35671	T	0.21	.	7.0093	0.24853	0.0:0.2621:0.0:0.7379	.	31	Q7Z794	K2C1B_HUMAN	G	31	ENSP00000342710:S31G	ENSP00000342710:S31G	S	-	1	0	KRT77	51383395	0.000000	0.05858	0.349000	0.25694	0.480000	0.33159	0.067000	0.14510	0.377000	0.24735	0.482000	0.46254	AGT		0.532	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	0	NM_175078		12:53097128
NTRK2	4915	broad.mit.edu	37	9	87635240	87635240	+	Silent	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr9:87635240C>A	ENST00000323115.4	+	16	2597	c.2244C>A	c.(2242-2244)acC>acA	p.T748T	NTRK2_ENST00000277120.3_Silent_p.T764T|NTRK2_ENST00000376214.1_Silent_p.T764T|NTRK2_ENST00000376213.1_Silent_p.T748T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	748	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AGATTTTCACCTATGGCAAAC	0.557										TSP Lung(25;0.17)																												ENST00000376214.1		NA																	0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(2290-2292)acC>acA		neurotrophic tyrosine kinase, receptor, type 2							129.0	118.0	122.0					9																	87635240		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87635240C>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2244C>A	9.37:g.87635240C>A		False	False	TSP Lung(25;0.17)	Somatic	0				NTRK2_ENST00000323115.4_Silent_p.T748T|NTRK2_ENST00000277120.3_Silent_p.T764T|NTRK2_ENST00000376213.1_Silent_p.T748T	p.T764T	NM_006180.3	NP_006171.2	WXS	Illumina HiSeq	Phase_I	Q16620	NTRK2_HUMAN			20	3230	+			748			Protein kinase.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.2292C>A	CCDS35050.1																																																																																				0.557	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1	0			9:87635240
BMP8A	353500	broad.mit.edu	37	1	39988771	39988771	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:39988771C>T	ENST00000331593.5	+	6	1387	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	347					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCACCAACCACGCCATCCTGC	0.677																																						ENST00000331593.5		NA																	0				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(1039-1041)caC>caT		bone morphogenetic protein 8a							175.0	148.0	157.0					1																	39988771		2203	4300	6503	SO:0001819	synonymous_variant	353500				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:39988771C>T	AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.1041C>T	1.37:g.39988771C>T		True	False		Somatic	0				RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000450157.1_RNA	p.H347H	NM_181809.3	NP_861525.2	WXS	Illumina HiSeq	Phase_I	Q7Z5Y6	BMP8A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		6	1387	+	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	347					Q5T3A5	Silent	SNP	ENST00000331593.5	37	c.1041C>T	CCDS437.1																																																																																				0.677	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	0	NM_181809		1:39988771
SVOPL	136306	broad.mit.edu	37	7	138341226	138341226	+	Silent	SNP	C	C	T	rs371993600		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:138341226C>T	ENST00000419765.3	-	6	534	c.501G>A	c.(499-501)acG>acA	p.T167T	SVOPL_ENST00000288513.5_Silent_p.T15T|SVOPL_ENST00000436657.1_Silent_p.T15T|SVOPL_ENST00000421622.1_Intron	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	167						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCGGTATTTCGTGGGCAAAA	0.353																																						ENST00000419765.3		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(499-501)acG>acA		SVOP-like		C	,	1,4405	2.1+/-5.4	0,1,2202	136.0	125.0	129.0		501,45	-6.6	1.0	7		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SVOPL	NM_001139456.1,NM_174959.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	167/493,15/341	138341226	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	136306					integral to membrane	transmembrane transporter activity	g.chr7:138341226C>T	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.501G>A	7.37:g.138341226C>T		True	False		Somatic	0				SVOPL_ENST00000421622.1_Intron|SVOPL_ENST00000436657.1_Silent_p.T15T|SVOPL_ENST00000288513.5_Silent_p.T15T	p.T167T	NM_001139456.1	NP_001132928.1	WXS	Illumina HiSeq	Phase_I	Q8N434	SVOPL_HUMAN			6	534	-			167						Silent	SNP	ENST00000419765.3	37	c.501G>A	CCDS47721.1																																																																																				0.353	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	0	NM_174959		7:138341226
UBASH3A	53347	broad.mit.edu	37	21	43838614	43838614	+	Silent	SNP	C	C	T	rs147873921		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr21:43838614C>T	ENST00000319294.6	+	7	973	c.942C>T	c.(940-942)agC>agT	p.S314S	UBASH3A_ENST00000398367.1_Silent_p.S276S|RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000291535.6_Silent_p.S276S	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	314	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S314R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGAAGCCAGCGAGGGCTGGG	0.592																																						ENST00000319294.6		NA																	1	Substitution - Missense(1)	p.S314R(1)	endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(940-942)agC>agT		ubiquitin associated and SH3 domain containing A		C	,	1,4405	2.1+/-5.4	0,1,2202	71.0	71.0	71.0		828,942	-1.1	1.0	21	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	UBASH3A	NM_001001895.2,NM_018961.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	276/624,314/662	43838614	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43838614C>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.942C>T	21.37:g.43838614C>T		False	False		Somatic	0				UBASH3A_ENST00000398367.1_Silent_p.S276S|UBASH3A_ENST00000291535.6_Silent_p.S276S	p.S314S	NM_018961.3	NP_061834.1	WXS	Illumina HiSeq	Phase_I	P57075	UBS3A_HUMAN			7	973	+			314			SH3.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.942C>T	CCDS13687.1																																																																																				0.592	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	0	NM_001001895		21:43838614
NLRP5	126206	broad.mit.edu	37	19	56538511	56538511	+	Silent	SNP	G	G	T	rs368367207		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:56538511G>T	ENST00000390649.3	+	7	912	c.912G>T	c.(910-912)gcG>gcT	p.A304A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	304	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTGCTGGGCGCAAGGTGGAC	0.562																																						ENST00000390649.3		NA																	0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(910-912)gcG>gcT		NLR family, pyrin domain containing 5							48.0	54.0	52.0					19																	56538511		2111	4222	6333	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538511G>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.912G>T	19.37:g.56538511G>T		False	False		Somatic	0					p.A304A	NM_153447.4	NP_703148.4	WXS	Illumina HiSeq	Phase_I	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	912	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	304			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.912G>T	CCDS12938.1																																																																																				0.562	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	0	NM_153447		19:56538511
CCDC108	255101	broad.mit.edu	37	2	219890812	219890812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:219890812C>T	ENST00000341552.5	-	14	2364	c.2281G>A	c.(2281-2283)Gca>Aca	p.A761T	CCDC108_ENST00000441968.1_Missense_Mutation_p.A761T|CCDC108_ENST00000453220.1_Missense_Mutation_p.A761T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	761						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCCTCGTGCCCGCACCGTC	0.597																																						ENST00000341552.5		NA																	0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2281-2283)Gca>Aca		coiled-coil domain containing 108							81.0	72.0	75.0					2																	219890812		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219890812C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2281G>A	2.37:g.219890812C>T	ENSP00000340776:p.Ala761Thr	True	False		Somatic	0				CCDC108_ENST00000441968.1_Missense_Mutation_p.A761T|CCDC108_ENST00000453220.1_Missense_Mutation_p.A761T	p.A761T	NM_194302.2	NP_919278.2	WXS	Illumina HiSeq	Phase_I	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	2364	-		Renal(207;0.0915)	761					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2281G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	7.441	0.640609	0.14386	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05580	3.42;3.42;3.42	4.87	3.09	0.35607	.	0.461082	0.18270	N	0.146344	T	0.04363	0.0120	L	0.38838	1.175	0.09310	N	1	B	0.28512	0.214	B	0.24701	0.055	T	0.42275	-0.9461	10	0.15952	T	0.53	-1.4645	3.8598	0.08991	0.1251:0.5849:0.1362:0.1538	.	761	Q6ZU64	CC108_HUMAN	T	761	ENSP00000340776:A761T;ENSP00000413377:A761T;ENSP00000409117:A761T	ENSP00000340776:A761T	A	-	1	0	CCDC108	219599056	0.004000	0.15560	0.001000	0.08648	0.273000	0.26683	1.552000	0.36244	0.671000	0.31185	-0.224000	0.12420	GCA		0.597	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	0	NM_194302		2:219890812
GSDMC	56169	broad.mit.edu	37	8	130789715	130789715	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:130789715C>T	ENST00000276708.4	-	2	1000	c.119G>A	c.(118-120)cGa>cAa	p.R40Q		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	40						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTCTTCTTTCGTAATATAAC	0.398																																						ENST00000276708.4		NA																	0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(118-120)cGa>cAa		gasdermin C							153.0	141.0	145.0					8																	130789715		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130789715C>T	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.119G>A	8.37:g.130789715C>T	ENSP00000276708:p.Arg40Gln	True	False		Somatic	0					p.R40Q	NM_031415.2	NP_113603.1	WXS	Illumina HiSeq	Phase_I	Q9BYG8	GSDMC_HUMAN			2	1000	-			40					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.119G>A	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	C	5.027	0.190676	0.09547	.	.	ENSG00000147697	ENST00000276708	T	0.23348	1.91	3.9	-0.272	0.12919	.	0.803958	0.10809	N	0.631858	T	0.07954	0.0199	N	0.11255	0.115	0.09310	N	1	P	0.35684	0.515	B	0.22753	0.041	T	0.26643	-1.0097	10	0.12430	T	0.62	.	3.0092	0.06039	0.1923:0.4599:0.0:0.3478	.	40	Q9BYG8	GSDMC_HUMAN	Q	40	ENSP00000276708:R40Q	ENSP00000276708:R40Q	R	-	2	0	GSDMC	130858897	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.989000	0.01480	-0.177000	0.10690	-0.424000	0.05967	CGA		0.398	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1	0			8:130789715
HNRNPKP3	399881	broad.mit.edu	37	11	43284450	43284450	+	RNA	SNP	A	A	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:43284450A>G	ENST00000511537.1	-	0	485					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		GCACTCTACAACTCCATAGTC	0.393																																						ENST00000511537.1		NA																	0					NA																																														0							g.chr11:43284450A>G			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43284450A>G		False	False		Somatic	0						NR_033868.1		WXS	Illumina HiSeq	Phase_I					0	485	-			NA						RNA	SNP	ENST00000511537.1	37																																																																																						0.393	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	0	NR_033868		11:43284450
FAM9A	171482	broad.mit.edu	37	X	8763195	8763195	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:8763195C>T	ENST00000543214.1	-	7	890	c.755G>A	c.(754-756)gGa>gAa	p.G252E	FAM9A_ENST00000381003.3_Missense_Mutation_p.G252E	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	252	Glu-rich.|Poly-Gly.					nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				tcctcctcctccttcttctcc	0.463																																						ENST00000543214.1		NA																	0				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18						c.(754-756)gGa>gAa		family with sequence similarity 9, member A							42.0	36.0	38.0					X																	8763195		2193	4278	6471	SO:0001583	missense	171482					nucleolus		g.chrX:8763195C>T		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.755G>A	X.37:g.8763195C>T	ENSP00000440163:p.Gly252Glu	True	False		Somatic	0				FAM9A_ENST00000381003.3_Missense_Mutation_p.G252E	p.G252E	NM_001171186.1	NP_001164657.1	WXS	Illumina HiSeq	Phase_I	Q8IZU1	FAM9A_HUMAN			7	890	-		Hepatocellular(5;0.219)	252			Glu-rich.|Poly-Gly.		B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	c.755G>A	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.786172	0.00078	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.507	-1.01	0.10169	.	.	.	.	.	T	0.15046	0.0363	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19160	-1.0314	7	0.87932	D	0	.	.	.	.	.	252	Q8IZU1	FAM9A_HUMAN	E	252	.	ENSP00000370391:G252E	G	-	2	0	FAM9A	8723195	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-1.395000	0.02516	-1.592000	0.01619	-1.314000	0.01303	GGA		0.463	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	0	NM_174951		X:8763195
KRT40	125115	broad.mit.edu	37	17	39137358	39137358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:39137358C>A	ENST00000398486.2	-	6	893	c.733G>T	c.(733-735)Gag>Tag	p.E245*	KRT40_ENST00000377755.4_Nonsense_Mutation_p.E245*	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	245	Linker 12.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTGTCCAGCTCCACACTGAGG	0.522																																						ENST00000377755.4		NA																	0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(733-735)Gag>Tag		keratin 40							113.0	122.0	119.0					17																	39137358		2065	4208	6273	SO:0001587	stop_gained	125115					intermediate filament	structural molecule activity	g.chr17:39137358C>A	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.733G>T	17.37:g.39137358C>A	ENSP00000381500:p.Glu245*	False	False		Somatic	0				KRT40_ENST00000398486.2_Nonsense_Mutation_p.E245*	p.E245*			WXS	Illumina HiSeq	Phase_I	Q6A162	K1C40_HUMAN			4	767	-		Breast(137;0.00043)	245			Linker 12.|Rod.		Q6IFU5	Nonsense_Mutation	SNP	ENST00000398486.2	37	c.733G>T	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	36	5.889692	0.97068	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	.	.	.	5.4	5.4	0.78164	.	0.000000	0.34156	N	0.004215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.1854	0.65603	0.0:0.8505:0.1495:0.0	.	.	.	.	X	245	.	ENSP00000366984:E245X	E	-	1	0	KRT40	36390884	0.999000	0.42202	1.000000	0.80357	0.908000	0.53690	3.920000	0.56446	2.688000	0.91661	0.655000	0.94253	GAG		0.522	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	0	NM_182497		17:39137358
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	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>gTt		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>A	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>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	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>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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
TRPV6	55503	broad.mit.edu	37	7	142569526	142569526	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:142569526C>A	ENST00000359396.3	-	15	2357	c.2112G>T	c.(2110-2112)agG>agT	p.R704S		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	704	Interaction with calmodulin.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCAGGTCTCTCCTCAGGGTCC	0.577																																						ENST00000359396.3		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(2110-2112)agG>agT		transient receptor potential cation channel, subfamily V, member 6							70.0	70.0	70.0					7																	142569526		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142569526C>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.2112G>T	7.37:g.142569526C>A	ENSP00000352358:p.Arg704Ser	True	False		Somatic	0					p.R704S	NM_018646.3	NP_061116	WXS	Illumina HiSeq	Phase_I	Q9H1D0	TRPV6_HUMAN			15	2357	-	Melanoma(164;0.059)		704			Interaction with calmodulin.		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.2112G>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340406	0.24339	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.76968	-1.06	5.3	1.03	0.20045	.	0.665359	0.16004	N	0.234172	T	0.61286	0.2335	L	0.36672	1.1	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.40831	-0.9542	10	0.18710	T	0.47	-7.6958	4.8576	0.13566	0.142:0.5057:0.2751:0.0771	.	704	Q9H1D0	TRPV6_HUMAN	S	704;536	ENSP00000352358:R704S	ENSP00000310825:R536S	R	-	3	2	TRPV6	142279648	0.000000	0.05858	0.000000	0.03702	0.654000	0.38779	0.010000	0.13242	0.183000	0.20059	0.561000	0.74099	AGG		0.577	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	0	NM_014274		7:142569526
ZNF93	81931	broad.mit.edu	37	19	20044700	20044700	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:20044700C>T	ENST00000343769.5	+	4	964	c.936C>T	c.(934-936)ccC>ccT	p.P312P	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GAGAGAAGCCCTACGTTTGTG	0.368																																						ENST00000343769.5		NA																	0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(934-936)ccC>ccT		zinc finger protein 93							35.0	38.0	37.0					19																	20044700		2203	4299	6502	SO:0001819	synonymous_variant	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044700C>T	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.936C>T	19.37:g.20044700C>T		True	False		Somatic	0				AC007204.2_ENST00000592245.1_lincRNA	p.P312P	NM_031218.3	NP_112495.2	WXS	Illumina HiSeq	Phase_I	P35789	ZNF93_HUMAN			4	964	+			312					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	ENST00000343769.5	37	c.936C>T	CCDS32973.1																																																																																				0.368	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	0	NM_031218		19:20044700
CROCC	9696	broad.mit.edu	37	1	17250968	17250968	+	Silent	SNP	C	C	T	rs571516644	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:17250968C>T	ENST00000375541.5	+	3	414	c.345C>T	c.(343-345)agC>agT	p.S115S	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ATGCGGTCAGCGAGAGGGTGG	0.647													c|||	4	0.000798722	0.0	0.0	5008	,	,		28321	0.001		0.0	False		,,,				2504	0.0031					ENST00000375541.5		NA																	0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(343-345)agC>agT		ciliary rootlet coiled-coil, rootletin							48.0	34.0	39.0					1																	17250968		2202	4299	6501	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17250968C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.345C>T	1.37:g.17250968C>T		False	False		Somatic	0				CROCC_ENST00000467938.1_Intron	p.S115S	NM_014675.3	NP_055490.3	WXS	Illumina HiSeq	Phase_I	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	3	414	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	115						Silent	SNP	ENST00000375541.5	37	c.345C>T	CCDS30616.1																																																																																				0.647	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	0	NM_014675		1:17250968
OR4Q3	441669	broad.mit.edu	37	14	20216249	20216249	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:20216249C>T	ENST00000331723.1	+	1	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTATGCTATCATCCTGATCA	0.507																																						ENST00000331723.1		NA																	0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(661-663)atC>atT		olfactory receptor, family 4, subfamily Q, member 3							192.0	156.0	168.0					14																	20216249		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216249C>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.663C>T	14.37:g.20216249C>T		False	False		Somatic	0					p.I221I	NM_172194.1	NP_751944.1	WXS	Illumina HiSeq	Phase_I	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	663	+	all_cancers(95;0.00108)		221					Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.663C>T	CCDS32020.1																																																																																				0.507	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2	0			14:20216249
C16orf89	146556	broad.mit.edu	37	16	5112524	5112524	+	Missense_Mutation	SNP	G	G	A	rs561235172		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:5112524G>A	ENST00000315997.5	-	2	461	c.260C>T	c.(259-261)cCg>cTg	p.P87L	C16orf89_ENST00000472572.3_Missense_Mutation_p.P87L|C16orf89_ENST00000474471.3_Missense_Mutation_p.P87L|C16orf89_ENST00000422873.1_Missense_Mutation_p.P125L|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_Missense_Mutation_p.P125L	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	87						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)	p.P125L(2)|p.P87L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CAGGCTCAGCGGCTGCAGCAG	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		16852	0.001		0.0	False		,,,				2504	0.0					ENST00000315997.5		NA																	3	Substitution - Missense(3)	p.P125L(2)|p.P87L(1)	lung(3)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(259-261)cCg>cTg		chromosome 16 open reading frame 89							53.0	57.0	55.0					16																	5112524		1920	4138	6058	SO:0001583	missense	146556					extracellular region		g.chr16:5112524G>A		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.260C>T	16.37:g.5112524G>A	ENSP00000324672:p.Pro87Leu	False	False		Somatic	0				C16orf89_ENST00000472572.3_Missense_Mutation_p.P87L|C16orf89_ENST00000474471.3_Missense_Mutation_p.P87L|C16orf89_ENST00000350219.4_Missense_Mutation_p.P125L|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.P125L	p.P87L	NM_152459.4	NP_689672.4	WXS	Illumina HiSeq	Phase_I	Q6UX73	CP089_HUMAN			2	461	-			87					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.260C>T	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	G	6.069	0.381079	0.11466	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.98	0.777	0.18538	.	0.331114	0.28268	N	0.015977	T	0.22936	0.0554	L	0.56769	1.78	0.23879	N	0.996585	B;B	0.30211	0.179;0.273	B;B	0.25140	0.026;0.058	T	0.14615	-1.0466	10	0.49607	T	0.09	-14.0929	4.1243	0.10119	0.266:0.0:0.5735:0.1606	.	87;125	Q6UX73;G3V0F0	CP089_HUMAN;.	L	87;87;87;125;125;87	ENSP00000417158:P87L;ENSP00000420566:P87L;ENSP00000390402:P125L;ENSP00000283478:P125L;ENSP00000324672:P87L	ENSP00000324672:P87L	P	-	2	0	C16orf89	5052525	0.000000	0.05858	0.119000	0.21687	0.049000	0.14656	-0.083000	0.11286	-0.062000	0.13088	-1.263000	0.01449	CCG		0.562	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	0	NM_152459		16:5112524
THSD7B	80731	broad.mit.edu	37	2	138030171	138030171	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:138030171T>A	ENST00000409968.1	+	11	2513	c.2335T>A	c.(2335-2337)Tgc>Agc	p.C779S	THSD7B_ENST00000272643.3_Missense_Mutation_p.C779S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.C748S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	779	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGCCAGGAATGCCCAGATAC	0.393																																						ENST00000409968.1		NA																	0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2335-2337)Tgc>Agc		thrombospondin, type I, domain containing 7B							120.0	125.0	123.0					2																	138030171		1942	4137	6079	SO:0001583	missense	80731							g.chr2:138030171T>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2335T>A	2.37:g.138030171T>A	ENSP00000387145:p.Cys779Ser	False	False		Somatic	0				THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.C748S|THSD7B_ENST00000272643.3_Missense_Mutation_p.C779S	p.C779S			WXS	Illumina HiSeq	Phase_I				BRCA - Breast invasive adenocarcinoma(221;0.19)	11	2513	+			NA						Missense_Mutation	SNP	ENST00000409968.1	37	c.2335T>A		.	.	.	.	.	.	.	.	.	.	T	26.9	4.780563	0.90195	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.25579	1.79;1.79;1.79	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.964	T	0.67696	-0.5604	10	0.51188	T	0.08	.	14.9927	0.71401	0.0:0.0:0.0:1.0	.	779;748	Q9C0I4;C9JKN6	THS7B_HUMAN;.	S	779;779;748	ENSP00000387145:C779S;ENSP00000272643:C779S;ENSP00000413841:C748S	ENSP00000272643:C779S	C	+	1	0	THSD7B	137746641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.047000	0.76599	2.171000	0.68590	0.533000	0.62120	TGC		0.393	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	0	XM_046570.9		2:138030171
ATP2B3	492	broad.mit.edu	37	X	152807149	152807149	+	Silent	SNP	C	C	T	rs200024105		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:152807149C>T	ENST00000349466.2	+	4	755	c.429C>T	c.(427-429)ggC>ggT	p.G143G	ATP2B3_ENST00000370186.1_Silent_p.G143G|ATP2B3_ENST00000393842.1_Silent_p.G143G|ATP2B3_ENST00000263519.4_Silent_p.G143G|ATP2B3_ENST00000370181.2_Silent_p.G143G|ATP2B3_ENST00000359149.3_Silent_p.G143G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	143					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCGGGAGGCGCAGAAGATG	0.607																																						ENST00000370186.1		NA																	0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(427-429)ggC>ggT		ATPase, Ca++ transporting, plasma membrane 3							83.0	67.0	73.0					X																	152807149		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152807149C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.429C>T	X.37:g.152807149C>T		False	False		Somatic	0				ATP2B3_ENST00000359149.3_Silent_p.G143G|ATP2B3_ENST00000263519.4_Silent_p.G143G|ATP2B3_ENST00000370181.2_Silent_p.G143G|ATP2B3_ENST00000349466.2_Silent_p.G143G|ATP2B3_ENST00000393842.1_Silent_p.G143G	p.G143G			WXS	Illumina HiSeq	Phase_I	Q16720	AT2B3_HUMAN			4	755	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		143					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.429C>T	CCDS35440.1																																																																																				0.607	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	0	NM_021949		X:152807149
IZUMO2	126123	broad.mit.edu	37	19	50666024	50666024	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:50666024C>T	ENST00000293405.3	-	2	279	c.279G>A	c.(277-279)acG>acA	p.T93T		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	93						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TTAAGTGCTGCGTTTGGTTCT	0.562																																						ENST00000293405.3		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(277-279)acG>acA		IZUMO family member 2							135.0	132.0	133.0					19																	50666024		1993	4170	6163	SO:0001819	synonymous_variant	126123					integral to membrane		g.chr19:50666024C>T	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.279G>A	19.37:g.50666024C>T		False	False		Somatic	0					p.T93T	NM_152358.2	NP_689571.2	WXS	Illumina HiSeq	Phase_I	Q6UXV1	IZUM2_HUMAN			2	279	-			93					Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Silent	SNP	ENST00000293405.3	37	c.279G>A	CCDS12792.2																																																																																				0.562	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	0	NM_152358		19:50666024
LRRC43	254050	broad.mit.edu	37	12	122687867	122687867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:122687867C>T	ENST00000339777.4	+	12	1877	c.1849C>T	c.(1849-1851)Ccg>Tcg	p.P617S	B3GNT4_ENST00000535274.1_5'Flank|LRRC43_ENST00000425921.1_Missense_Mutation_p.P432S|B3GNT4_ENST00000546192.1_5'Flank|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	617										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCAGAAAAGCCGAAAGCCGT	0.607																																						ENST00000339777.4		NA																	0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1849-1851)Ccg>Tcg		leucine rich repeat containing 43							88.0	95.0	93.0					12																	122687867		1915	4136	6051	SO:0001583	missense	254050							g.chr12:122687867C>T	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1849C>T	12.37:g.122687867C>T	ENSP00000344233:p.Pro617Ser	True	False		Somatic	0				LRRC43_ENST00000425921.1_Missense_Mutation_p.P432S	p.P617S	NM_152759.4	NP_689972.3	WXS	Illumina HiSeq	Phase_I	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	12	1877	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		617					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1849C>T	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	8.029	0.761252	0.15914	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.52526	0.66;1.08	4.59	-9.19	0.00685	.	3.517060	0.00721	N	0.000881	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34502	-0.9826	10	0.02654	T	1	0.2056	1.2819	0.02043	0.1967:0.3745:0.1692:0.2597	.	617	Q8N309	LRC43_HUMAN	S	617;488;432	ENSP00000344233:P617S;ENSP00000416628:P432S	ENSP00000289014:P488S	P	+	1	0	LRRC43	121253820	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.381000	0.02549	-2.550000	0.00480	-0.311000	0.09066	CCG		0.607	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	0	NM_152759		12:122687867
APOB	338	broad.mit.edu	37	2	21233909	21233909	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:21233909T>C	ENST00000233242.1	-	26	5958	c.5831A>G	c.(5830-5832)cAt>cGt	p.H1944R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1944					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGTAATCATGAGAGAAAGT	0.468																																						ENST00000233242.1		NA																	0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(5830-5832)cAt>cGt		apolipoprotein B	Atorvastatin(DB01076)						177.0	166.0	170.0					2																	21233909		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233909T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5831A>G	2.37:g.21233909T>C	ENSP00000233242:p.His1944Arg	True	False		Somatic	0					p.H1944R	NM_000384.2	NP_000375	WXS	Illumina HiSeq	Phase_I	P04114	APOB_HUMAN			26	5958	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1944					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.5831A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.130700	0.37630	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.03094	4.05	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000016	T	0.18130	0.0435	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.00239	-1.1888	10	0.62326	D	0.03	.	15.5233	0.75881	0.0:0.0:0.0:1.0	.	1944	P04114	APOB_HUMAN	R	1944	ENSP00000233242:H1944R	ENSP00000233242:H1944R	H	-	2	0	APOB	21087414	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.315000	0.51951	2.065000	0.61736	0.454000	0.30748	CAT		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	0			2:21233909
GHDC	84514	broad.mit.edu	37	17	40341794	40341794	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:40341794A>G	ENST00000301671.8	-	9	1961	c.1520T>C	c.(1519-1521)tTc>tCc	p.F507S	GHDC_ENST00000414034.3_3'UTR|GHDC_ENST00000593209.1_Intron|GHDC_ENST00000428494.2_Missense_Mutation_p.F468S|GHDC_ENST00000587427.1_Missense_Mutation_p.F507S			Q8N2G8	GHDC_HUMAN	GH3 domain containing	507						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CGCAGGGGGGAAGGGGGAGGA	0.716																																						ENST00000301671.8		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1519-1521)tTc>tCc		GH3 domain containing							9.0	10.0	10.0					17																	40341794		2176	4279	6455	SO:0001583	missense	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40341794A>G	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1520T>C	17.37:g.40341794A>G	ENSP00000301671:p.Phe507Ser	True	False		Somatic	0				GHDC_ENST00000414034.3_3'UTR|GHDC_ENST00000587427.1_Missense_Mutation_p.F507S|GHDC_ENST00000428494.2_Missense_Mutation_p.F468S|GHDC_ENST00000593209.1_Intron	p.F507S			WXS	Illumina HiSeq	Phase_I	Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	9	1961	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	507					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.1520T>C	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	A	0.719	-0.784245	0.02907	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000301671	.	.	.	4.76	-1.19	0.09585	.	0.485347	0.21148	N	0.079375	T	0.18800	0.0451	L	0.36672	1.1	0.24617	N	0.993693	B;B	0.18610	0.029;0.026	B;B	0.19391	0.023;0.025	T	0.13124	-1.0521	9	0.21540	T	0.41	-0.9573	0.3415	0.00334	0.3859:0.2118:0.159:0.2434	.	468;507	E9PDB5;Q8N2G8	.;GHDC_HUMAN	S	451;468;507	.	ENSP00000301671:F507S	F	-	2	0	GHDC	37595320	0.344000	0.24827	0.053000	0.19242	0.068000	0.16541	0.663000	0.25053	-0.432000	0.07297	0.454000	0.30748	TTC		0.716	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	0	NM_032484		17:40341794
OR2T10	127069	broad.mit.edu	37	1	248756293	248756293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:248756293G>C	ENST00000330500.2	-	1	807	c.777C>G	c.(775-777)taC>taG	p.Y259*	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TGGGGAGCATGTAGTTGTAAA	0.438																																						ENST00000330500.2		NA																	0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(775-777)taC>taG		olfactory receptor, family 2, subfamily T, member 10							65.0	68.0	67.0					1																	248756293		2050	4236	6286	SO:0001587	stop_gained	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756293G>C		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.777C>G	1.37:g.248756293G>C	ENSP00000329210:p.Tyr259*	False	False		Somatic	0					p.Y259*	NM_001004693.1	NP_001004693.1	WXS	Illumina HiSeq	Phase_I	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	807	-	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)		259					B2RNK7	Nonsense_Mutation	SNP	ENST00000330500.2	37	c.777C>G	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	8.049	0.765657	0.15983	.	.	ENSG00000184022	ENST00000330500	.	.	.	2.35	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.48830	D	0.999716	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6709	0.12689	0.4638:0.0:0.5362:0.0	.	.	.	.	X	259	.	ENSP00000329210:Y259X	Y	-	3	2	OR2T10	246822916	0.000000	0.05858	0.755000	0.31263	0.104000	0.19210	-0.746000	0.04829	0.183000	0.20059	-0.409000	0.06214	TAC		0.438	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	0	NM_001004693		1:248756293
UGGT2	55757	broad.mit.edu	37	13	96592266	96592266	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:96592266T>C	ENST00000376747.3	-	16	1827	c.1757A>G	c.(1756-1758)cAt>cGt	p.H586R		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	586					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AATATTAGCATGAGGAAATGT	0.333																																						ENST00000376747.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(1756-1758)cAt>cGt		UDP-glucose glycoprotein glucosyltransferase 2							116.0	113.0	114.0					13																	96592266		2202	4300	6502	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96592266T>C	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1757A>G	13.37:g.96592266T>C	ENSP00000365938:p.His586Arg	False	False		Somatic	0					p.H586R	NM_020121.3	NP_064506.3	WXS	Illumina HiSeq	Phase_I	Q9NYU1	UGGG2_HUMAN			16	1827	-			586					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.1757A>G	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011877	0.35511	.	.	ENSG00000102595	ENST00000376747	T	0.29917	1.55	5.64	4.45	0.53987	.	0.380232	0.32671	N	0.005790	T	0.26448	0.0646	L	0.48362	1.52	0.80722	D	1	B	0.14012	0.009	B	0.17098	0.017	T	0.04333	-1.0959	10	0.21014	T	0.42	-3.9518	11.5681	0.50818	0.0:0.0702:0.0:0.9298	.	586	Q9NYU1	UGGG2_HUMAN	R	586	ENSP00000365938:H586R	ENSP00000365938:H586R	H	-	2	0	UGGT2	95390267	1.000000	0.71417	0.970000	0.41538	0.974000	0.67602	3.189000	0.50965	0.960000	0.38005	0.459000	0.35465	CAT		0.333	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	0	NM_020121		13:96592266
SLC44A5	204962	broad.mit.edu	37	1	75685021	75685021	+	Missense_Mutation	SNP	G	G	A	rs202241076		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:75685021G>A	ENST00000370855.5	-	16	1300	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	SLC44A5_ENST00000370859.3_Missense_Mutation_p.A396V|SLC44A5_ENST00000535611.1_Missense_Mutation_p.A266V	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	396					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A396V(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCCGATGTCGCCAAGAAACT	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17063	0.0		0.0	False		,,,				2504	0.0					ENST00000370855.5		NA																	1	Substitution - Missense(1)	p.A396V(1)	large_intestine(1)	kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1186-1188)gCg>gTg		solute carrier family 44, member 5							86.0	80.0	82.0					1																	75685021		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75685021G>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1187C>T	1.37:g.75685021G>A	ENSP00000359892:p.Ala396Val	False	False		Somatic	0				SLC44A5_ENST00000535611.1_Missense_Mutation_p.A266V|SLC44A5_ENST00000370859.3_Missense_Mutation_p.A396V	p.A396V	NM_152697.4	NP_689910.2	WXS	Illumina HiSeq	Phase_I	Q8NCS7	CTL5_HUMAN			16	1300	-			396					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1187C>T	CCDS667.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.18	3.778685	0.70107	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.22945	1.93;1.93;1.93	5.04	5.04	0.67666	.	0.216170	0.47852	D	0.000216	T	0.40398	0.1115	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D	0.65815	0.99;0.991;0.99;0.995;0.988	P;P;P;P;P	0.57324	0.818;0.745;0.818;0.807;0.629	T	0.24941	-1.0146	10	0.27082	T	0.32	-12.0802	18.7654	0.91869	0.0:0.0:1.0:0.0	.	390;435;396;396;435	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	V	396;435;396;266;389	ENSP00000359896:A396V;ENSP00000359892:A396V;ENSP00000443090:A266V	ENSP00000359892:A396V	A	-	2	0	SLC44A5	75457609	1.000000	0.71417	0.998000	0.56505	0.103000	0.19146	7.142000	0.77339	2.504000	0.84457	0.655000	0.94253	GCG		0.393	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	0	NM_152697		1:75685021
CA8	767	broad.mit.edu	37	8	61139438	61139438	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:61139438C>G	ENST00000317995.4	-	5	834	c.570G>C	c.(568-570)caG>caC	p.Q190H	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	190					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	TTACCTTATACTGAATATCTT	0.393																																						ENST00000317995.4		NA																	0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.(568-570)caG>caC		carbonic anhydrase VIII							58.0	60.0	59.0					8																	61139438		2203	4300	6503	SO:0001583	missense	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61139438C>G	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.570G>C	8.37:g.61139438C>G	ENSP00000314407:p.Gln190His	False	False		Somatic	0				CA8_ENST00000528666.1_5'UTR	p.Q190H	NM_004056.4	NP_004047.3	WXS	Illumina HiSeq	Phase_I	P35219	CAH8_HUMAN			5	834	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	190					A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	c.570G>C	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740653	0.49045	.	.	ENSG00000178538	ENST00000317995	T	0.68331	-0.32	5.83	2.55	0.30701	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.171104	0.53938	D	0.000047	T	0.56746	0.2006	M	0.66297	2.02	0.48830	D	0.999712	P	0.37525	0.598	B	0.32022	0.139	T	0.54186	-0.8331	10	0.87932	D	0	.	5.3935	0.16257	0.1324:0.6131:0.0:0.2545	.	190	P35219	CAH8_HUMAN	H	190	ENSP00000314407:Q190H	ENSP00000314407:Q190H	Q	-	3	2	CA8	61301992	0.975000	0.34042	1.000000	0.80357	0.997000	0.91878	0.168000	0.16622	0.195000	0.20347	0.650000	0.86243	CAG		0.393	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1	0			8:61139438
MYO9B	4650	broad.mit.edu	37	19	17322900	17322900	+	Silent	SNP	G	G	A	rs534850014		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:17322900G>A	ENST00000594824.1	+	40	6402	c.6255G>A	c.(6253-6255)ccG>ccA	p.P2085P	MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2085	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCTGGGCACCGGGTGCCCGGG	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		8731	0.0		0.0	False		,,,				2504	0.001					ENST00000594824.1		NA																	0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(6253-6255)ccG>ccA		myosin IXB							5.0	6.0	6.0					19																	17322900		1701	3904	5605	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17322900G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.6255G>A	19.37:g.17322900G>A		True	False		Somatic	0				MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR	p.P2085P			WXS	Illumina HiSeq	Phase_I	Q13459	MYO9B_HUMAN			40	6402	+			2085			Tail.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.6255G>A																																																																																					0.716	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1	0			19:17322900
MYOG	4656	broad.mit.edu	37	1	203054999	203054999	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:203054999C>T	ENST00000241651.4	-	1	165	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	31					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E31K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCTGGTGGTTCGAAGCCCTGG	0.637																																						ENST00000241651.4		NA																	1	Substitution - Missense(1)	p.E31K(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						c.(91-93)Gaa>Aaa		myogenin (myogenic factor 4)							50.0	47.0	48.0					1																	203054999		2203	4300	6503	SO:0001583	missense	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203054999C>T	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.91G>A	1.37:g.203054999C>T	ENSP00000241651:p.Glu31Lys	False	False		Somatic	0					p.E31K	NM_002479.5	NP_002470.2	WXS	Illumina HiSeq	Phase_I	P15173	MYOG_HUMAN			1	165	-			31					Q53XW6	Missense_Mutation	SNP	ENST00000241651.4	37	c.91G>A	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	c	26.8	4.774527	0.90108	.	.	ENSG00000122180	ENST00000241651	T	0.80214	-1.35	5.68	5.68	0.88126	Myogenic basic muscle-specific protein (2);	0.401828	0.27654	N	0.018407	T	0.78672	0.4320	M	0.74258	2.255	0.58432	D	0.999994	B	0.33612	0.419	B	0.27170	0.077	T	0.79926	-0.1597	10	0.66056	D	0.02	.	13.0541	0.58969	0.0:0.9267:0.0:0.0733	.	31	P15173	MYOG_HUMAN	K	31	ENSP00000241651:E31K	ENSP00000241651:E31K	E	-	1	0	MYOG	201321622	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	5.539000	0.67199	2.679000	0.91253	0.558000	0.71614	GAA		0.637	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	0	NM_002479		1:203054999
TMEM131	23505	broad.mit.edu	37	2	98430514	98430514	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:98430514G>T	ENST00000186436.5	-	15	1765	c.1537C>A	c.(1537-1539)Cac>Aac	p.H513N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	513						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTATCAATGTGCATGGATGAT	0.348																																						ENST00000186436.5		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1537-1539)Cac>Aac		transmembrane protein 131							76.0	70.0	72.0					2																	98430514		1874	4110	5984	SO:0001583	missense	23505					integral to membrane		g.chr2:98430514G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1537C>A	2.37:g.98430514G>T	ENSP00000186436:p.His513Asn	False	False		Somatic	0					p.H513N	NM_015348.1	NP_056163.1	WXS	Illumina HiSeq	Phase_I	Q92545	TM131_HUMAN			15	1765	-			513						Missense_Mutation	SNP	ENST00000186436.5	37	c.1537C>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615698	0.87359	.	.	ENSG00000075568	ENST00000186436	T	0.29917	1.55	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	L	0.51422	1.61	0.80722	D	1	P	0.40578	0.722	B	0.42625	0.393	T	0.04635	-1.0937	10	0.08179	T	0.78	-7.5095	20.0784	0.97758	0.0:0.0:1.0:0.0	.	513	Q92545	TM131_HUMAN	N	513	ENSP00000186436:H513N	ENSP00000186436:H513N	H	-	1	0	TMEM131	97796946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.022000	0.93678	2.736000	0.93811	0.655000	0.94253	CAC		0.348	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	0	XM_371542		2:98430514
P2RY4	5030	broad.mit.edu	37	X	69478844	69478844	+	Missense_Mutation	SNP	C	C	T	rs201727833		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:69478844C>T	ENST00000374519.2	-	1	810	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	211					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						AGGCAGGGCACGCCAAAGAGC	0.587													C|||	1	0.000264901	0.0	0.0	3775	,	,		15288	0.0		0.001	False		,,,				2504	0.0					ENST00000374519.2		NA																	0				cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						c.(631-633)Gtg>Atg		pyrimidinergic receptor P2Y, G-protein coupled, 4							79.0	71.0	74.0					X																	69478844		2203	4300	6503	SO:0001583	missense	5030				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:69478844C>T	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.631G>A	X.37:g.69478844C>T	ENSP00000363643:p.Val211Met	False	False		Somatic	0					p.V211M	NM_002565.3	NP_002556.1	WXS	Illumina HiSeq	Phase_I	P51582	P2RY4_HUMAN			1	810	-			211					Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	c.631G>A	CCDS14398.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.92	2.081633	0.36758	.	.	ENSG00000186912	ENST00000374519	T	0.26373	1.74	4.43	-1.97	0.07503	GPCR, rhodopsin-like superfamily (1);	0.845492	0.10248	U	0.697532	T	0.20455	0.0492	L	0.38953	1.18	0.09310	N	1	P	0.47106	0.89	P	0.49421	0.61	T	0.11567	-1.0582	10	0.44086	T	0.13	.	0.2633	0.00221	0.2575:0.2715:0.2178:0.2532	.	211	P51582	P2RY4_HUMAN	M	211	ENSP00000363643:V211M	ENSP00000363643:V211M	V	-	1	0	P2RY4	69395569	0.000000	0.05858	0.069000	0.20011	0.928000	0.56348	-0.525000	0.06214	-0.351000	0.08249	-0.239000	0.12128	GTG		0.587	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	0	NM_002565		X:69478844
