#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
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	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
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
MYH7B	57644	broad.mit.edu	37	20	33586211	33586212	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:33586211_33586212delAC	ENST00000262873.7	+	31	4079_4080	c.3987_3988delAC	c.(3985-3990)ctacagfs	p.Q1330fs		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1288						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GTGGGCGACTACAGACGGAAAG	0.649																																						ENST00000262873.7		NA																	0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3985-3990)ctacagfs		myosin, heavy chain 7B, cardiac muscle, beta																																				SO:0001589	frameshift_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33586211_33586212delAC	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.3987_3988delAC	20.37:g.33586211_33586212delAC	ENSP00000262873:p.Gln1330fs	False	False		Somatic	1					p.Q1330fs	NM_020884.3	NP_065935.2	WXS	Illumina HiSeq	Phase_I	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		31	4079_4080	+			1288					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Frame_Shift_Del	DEL	ENST00000262873.7	37	c.3987_3988delAC	CCDS42869.1																																																																																				0.649	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	0	NM_020884		20:33586211
SLC12A5	57468	broad.mit.edu	37	20	44685140	44685142	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:44685140_44685142delAGA	ENST00000454036.2	+	23	3165_3167	c.3116_3118delAGA	c.(3115-3120)gagaag>gag	p.K1040del	SLC12A5_ENST00000243964.3_In_Frame_Del_p.K1017del	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1040					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCGGTGGCAGAGAAGAATAAGGG	0.635																																						ENST00000243964.3		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(3046-3051)gagaag>gag		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001651	inframe_deletion	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44685140_44685142delAGA	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3116_3118delAGA	20.37:g.44685143_44685145delAGA	ENSP00000387694:p.Lys1040del	False	False		Somatic	2				SLC12A5_ENST00000454036.1_In_Frame_Del_p.K1040del	p.K1017del	NM_020708.4	NP_065759.1	WXS	Illumina HiSeq	Phase_I	Q9H2X9	S12A5_HUMAN			23	3145_3147	+		Myeloproliferative disorder(115;0.0122)	1040					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	In_Frame_Del	DEL	ENST00000454036.2	37	c.3047_3049delAGA	CCDS46610.1																																																																																				0.635	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	0			20:44685140
ANKRD36B	57730	broad.mit.edu	37	2	98205990	98205991	+	RNA	INS	-	-	TCC			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:98205990_98205991insTCC	ENST00000443455.1	-	0	336_337							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CCCATTACCTTTCCTTCCTGTC	0.579																																						ENST00000443455.1		NA																	0					NA								ankyrin repeat domain 36B																																						57730							g.chr2:98205990_98205991insTCC	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98205991_98205993dupTCC		True	False		Somatic	1								WXS	Illumina HiSeq	Phase_I	Q8N2N9	AN36B_HUMAN			0	336_337	-			NA					Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	INS	ENST00000443455.1	37																																																																																						0.579	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	0	NM_025190		2:98205990
ANKRD50	57182	broad.mit.edu	37	4	125599951	125599952	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:125599951_125599952insA	ENST00000504087.1	-	3	1658_1659	c.621_622insT	c.(619-624)tctaccfs	p.T208fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.T29fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	208										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GATAAGCTGGTAGACGTTTGTT	0.475																																						ENST00000504087.1		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(619-624)tctaccfs		ankyrin repeat domain 50																																				SO:0001589	frameshift_variant	57182							g.chr4:125599951_125599952insA	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.622dupT	4.37:g.125599952_125599952dupA	ENSP00000425658:p.Thr208fs	False	False		Somatic	1				ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.T29fs	p.T208fs	NM_020337.2	NP_065070.1	WXS	Illumina HiSeq	Phase_I	Q9ULJ7	ANR50_HUMAN			3	1658_1659	-			208					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Frame_Shift_Ins	INS	ENST00000504087.1	37	c.621_622insT	CCDS34060.1																																																																																				0.475	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	0	NM_020337		4:125599951
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
HSD17B13	345275	broad.mit.edu	37	4	88243945	88243945	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:88243945A>G	ENST00000328546.4	-	1	113	c.49T>C	c.(49-51)Tcc>Ccc	p.S17P	HSD17B13_ENST00000302219.6_Missense_Mutation_p.S17P|RP11-529H2.2_ENST00000508163.1_RNA	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	17						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TCCAAGTAGGAGTAGATGATG	0.468																																						ENST00000328546.4		NA																	0				endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(49-51)Tcc>Ccc		hydroxysteroid (17-beta) dehydrogenase 13							79.0	73.0	75.0					4																	88243945		2203	4300	6503	SO:0001583	missense	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88243945A>G		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.49T>C	4.37:g.88243945A>G	ENSP00000333300:p.Ser17Pro	False	False		Somatic	0				RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Missense_Mutation_p.S17P	p.S17P	NM_178135.3	NP_835236.2	WXS	Illumina HiSeq	Phase_I	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	1	113	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	17					A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	37	c.49T>C	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.553115	0.45487	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.90133	-2.62;-1.97	4.81	3.6	0.41247	.	0.194975	0.35436	N	0.003214	D	0.92473	0.7610	M	0.79258	2.445	0.33675	D	0.611372	P;P	0.48503	0.911;0.856	P;P	0.53102	0.718;0.526	D	0.93413	0.6770	10	0.37606	T	0.19	.	11.291	0.49250	0.8469:0.1531:0.0:0.0	.	17;17	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	P	17	ENSP00000305438:S17P;ENSP00000333300:S17P	ENSP00000305438:S17P	S	-	1	0	HSD17B13	88462969	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.554000	0.53720	0.824000	0.34613	0.477000	0.44152	TCC		0.468	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	0	NM_178135		4:88243945
SYT5	6861	broad.mit.edu	37	19	55690401	55690401	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:55690401C>T	ENST00000354308.3	-	2	378	c.9G>A	c.(7-9)ccG>ccA	p.P3P	SYT5_ENST00000590851.1_Missense_Mutation_p.R58Q|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Silent_p.P3P	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	3					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TTGGGGGCTCCGGGAACATGG	0.677																																						ENST00000590851.1		NA																	0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(172-174)cGg>cAg		synaptotagmin V							19.0	27.0	24.0					19																	55690401		2201	4297	6498	SO:0001819	synonymous_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55690401C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.9G>A	19.37:g.55690401C>T		True	False		Somatic	0				SYT5_ENST00000537500.1_Silent_p.P3P|SYT5_ENST00000354308.3_Silent_p.P3P	p.R58Q			WXS	Illumina HiSeq	Phase_I	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	1	357	-			0					B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.173G>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	8.945	0.966705	0.18659	.	.	ENSG00000129990	ENST00000543844	.	.	.	3.54	1.3	0.21679	.	.	.	.	.	T	0.23649	0.0572	.	.	.	0.80722	D	1	B	0.34372	0.451	B	0.18871	0.023	T	0.05178	-1.0901	7	0.27785	T	0.31	.	3.9386	0.09316	0.2358:0.6379:0.0:0.1263	.	58	B7Z300	.	Q	58	.	ENSP00000441336:R58Q	R	-	2	0	SYT5	60382213	0.974000	0.33945	1.000000	0.80357	0.304000	0.27724	-0.295000	0.08298	0.450000	0.26774	0.558000	0.71614	CGG		0.677	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	0	NM_003180		19:55690401
ARHGAP21	57584	broad.mit.edu	37	10	24959236	24959236	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr10:24959236T>G	ENST00000396432.2	-	3	640	c.154A>C	c.(154-156)Acg>Ccg	p.T52P		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	51	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTTTTCAACGTAACTGTTTTG	0.343																																						ENST00000396432.2		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(154-156)Acg>Ccg		Rho GTPase activating protein 21							135.0	120.0	125.0					10																	24959236		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24959236T>G	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.154A>C	10.37:g.24959236T>G	ENSP00000379709:p.Thr52Pro	False	False		Somatic	0					p.T52P	NM_020824.3	NP_065875.3	WXS	Illumina HiSeq	Phase_I	Q5T5U3	RHG21_HUMAN			3	640	-			51			PDZ.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.154A>C	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375711	0.24857	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000416305	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.19	-0.861	0.10676	PDZ/DHR/GLGF (2);	0.700803	0.15367	N	0.266050	T	0.19046	0.0457	M	0.63843	1.955	0.09310	N	1	B;B;B	0.15719	0.014;0.011;0.002	B;B;B	0.28638	0.077;0.092;0.039	T	0.29792	-1.0000	10	0.52906	T	0.07	.	3.228	0.06739	0.1417:0.131:0.5257:0.2015	.	52;51;51	F8W9U9;Q5T5U2;Q5T5U3	.;.;RHG21_HUMAN	P	52;51;52;52;41	ENSP00000379709:T52P;ENSP00000365592:T52P;ENSP00000405018:T52P;ENSP00000400566:T41P	ENSP00000365592:T52P	T	-	1	0	ARHGAP21	24999242	0.001000	0.12720	0.006000	0.13384	0.925000	0.55904	0.156000	0.16382	-0.015000	0.14150	-0.321000	0.08615	ACG		0.343	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	0	NM_020824		10:24959236
LPA	4018	broad.mit.edu	37	6	161006101	161006101	+	Silent	SNP	C	C	T	rs372776354		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:161006101C>T	ENST00000316300.5	-	26	4310	c.4266G>A	c.(4264-4266)agG>agA	p.R1422R	LPA_ENST00000447678.1_Silent_p.R1422R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3930	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.R1422S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAATGGGATCCTCCGATGCC	0.443																																						ENST00000447678.1		NA																	1	Substitution - Missense(1)	p.R1422S(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4264-4266)agG>agA		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						210.0	207.0	208.0					6																	161006101		2166	4293	6459	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161006101C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4266G>A	6.37:g.161006101C>T		False	False		Somatic	0				LPA_ENST00000316300.5_Silent_p.R1422R	p.R1422R	NM_005577.2	NP_005568.2	WXS	Illumina HiSeq	Phase_I	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	27	4386	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3930			Kringle 13.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.4266G>A	CCDS43523.1																																																																																				0.443	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	0	NM_005577		6:161006101
FAT1	2195	broad.mit.edu	37	4	187510158	187510158	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:187510158G>A	ENST00000441802.2	-	27	13564	c.13355C>T	c.(13354-13356)cCg>cTg	p.P4452L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4452					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAATTCGGGCGGTAACGGTGG	0.537										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(13354-13356)cCg>cTg		FAT atypical cadherin 1							232.0	236.0	235.0					4																	187510158		1951	4132	6083	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187510158G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13355C>T	4.37:g.187510158G>A	ENSP00000406229:p.Pro4452Leu	False	False	HNSCC(5;0.00058)	Somatic	0					p.P4452L	NM_005245.3	NP_005236.2	WXS	Illumina HiSeq	Phase_I	Q14517	FAT1_HUMAN			27	13564	-			4452						Missense_Mutation	SNP	ENST00000441802.2	37	c.13355C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	7.230	0.599106	0.13939	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.33865	1.39	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.53249	1.67	0.51767	D	0.999933	B	0.23540	0.087	B	0.17098	0.017	T	0.11324	-1.0592	10	0.40728	T	0.16	.	19.3098	0.94182	0.0:0.0:1.0:0.0	.	4452	Q14517	FAT1_HUMAN	L	4452;4454	ENSP00000406229:P4452L	ENSP00000260147:P4454L	P	-	2	0	FAT1	187747152	1.000000	0.71417	0.104000	0.21259	0.007000	0.05969	9.101000	0.94219	2.800000	0.96347	0.455000	0.32223	CCG		0.537	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	0	NM_005245		4:187510158
HSD3B1	3283	broad.mit.edu	37	1	120057235	120057235	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:120057235G>A	ENST00000369413.3	+	4	1234	c.1089G>A	c.(1087-1089)cgG>cgA	p.R363R	HSD3B1_ENST00000528909.1_Silent_p.R363R|HSD3B1_ENST00000235547.6_Silent_p.R365R			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	363					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TTGTGGACCGGCACAAGGAGA	0.517																																						ENST00000235547.6		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(1093-1095)cgG>cgA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						45.0	39.0	41.0					1																	120057235		2203	4299	6502	SO:0001819	synonymous_variant	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120057235G>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.1089G>A	1.37:g.120057235G>A		False	False		Somatic	0				HSD3B1_ENST00000528909.1_Silent_p.R363R|HSD3B1_ENST00000369413.3_Silent_p.R363R	p.R365R	NM_000862.2	NP_000853.1	WXS	Illumina HiSeq	Phase_I	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	1234	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	363					A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	c.1095G>A	CCDS903.1																																																																																				0.517	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	0	NM_000862		1:120057235
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6		NA																RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		False	False		Somatic	0					p.P780P	NM_006267.4	NP_006258.3	WXS	Illumina HiSeq	Phase_I	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	0	NM_006267		2:109371498
MYO5C	55930	broad.mit.edu	37	15	52534277	52534277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:52534277G>A	ENST00000261839.7	-	20	2685	c.2524C>T	c.(2524-2526)Cga>Tga	p.R842*	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	842	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGGAATCCTCGGCTGTAGGCC	0.542																																						ENST00000261839.7		NA																	0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2524-2526)Cga>Tga		myosin VC							209.0	209.0	209.0					15																	52534277		2026	4188	6214	SO:0001587	stop_gained	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52534277G>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2524C>T	15.37:g.52534277G>A	ENSP00000261839:p.Arg842*	False	False		Somatic	0				MYO5C_ENST00000443683.2_Intron	p.R842*	NM_018728.3	NP_061198.2	WXS	Illumina HiSeq	Phase_I	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	20	2685	-			842			IQ 4.		Q6P1W8	Nonsense_Mutation	SNP	ENST00000261839.7	37	c.2524C>T	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	39	7.406745	0.98265	.	.	ENSG00000128833	ENST00000261839	.	.	.	5.09	3.11	0.35812	.	0.068470	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3048	0.60347	0.0:0.0:0.5797:0.4203	.	.	.	.	X	842	.	ENSP00000261839:R842X	R	-	1	2	MYO5C	50321569	0.973000	0.33851	0.975000	0.42487	0.225000	0.24961	1.711000	0.37930	0.653000	0.30826	0.650000	0.86243	CGA		0.542	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	0	NM_018728		15:52534277
TNXB	7148	broad.mit.edu	37	6	32063700	32063700	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:32063700C>T	ENST00000479795.1	-	3	2070	c.1930G>A	c.(1930-1932)Ggc>Agc	p.G644S	TNXB_ENST00000375244.3_Missense_Mutation_p.G644S|TNXB_ENST00000375247.2_Missense_Mutation_p.G644S			P22105	TENX_HUMAN	tenascin XB	644	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGTAGGGCCGGTGTAGCCT	0.687																																						ENST00000375244.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(1930-1932)Ggc>Agc		tenascin XB							16.0	18.0	17.0					6																	32063700		2119	4216	6335	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32063700C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.1930G>A	6.37:g.32063700C>T	ENSP00000418248:p.Gly644Ser	False	False		Somatic	0				TNXB_ENST00000375247.2_Missense_Mutation_p.G644S|TNXB_ENST00000479795.1_Missense_Mutation_p.G644S	p.G644S			WXS	Illumina HiSeq	Phase_I	P22105	TENX_HUMAN			3	2131	-			644			EGF-like 16.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.1930G>A		.	.	.	.	.	.	.	.	.	.	C	14.90	2.673033	0.47781	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;D	0.85013	1.81;1.81;-1.93	4.25	4.25	0.50352	.	0.000000	0.43416	D	0.000580	D	0.92773	0.7702	M	0.91561	3.22	0.40214	D	0.977668	D	0.89917	1.0	D	0.97110	1.0	D	0.93982	0.7259	10	0.59425	D	0.04	.	15.6045	0.76652	0.0:1.0:0.0:0.0	.	644	P22105-3	.	S	644	ENSP00000364393:G644S;ENSP00000364396:G644S;ENSP00000418248:G644S	ENSP00000364393:G644S	G	-	1	0	TNXB	32171678	.	.	0.189000	0.23252	0.058000	0.15608	.	.	2.198000	0.70561	0.563000	0.77884	GGC		0.687	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	0	NM_019105		6:32063700
ZKSCAN2	342357	broad.mit.edu	37	16	25251421	25251421	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:25251421A>C	ENST00000328086.7	-	7	3423	c.2620T>G	c.(2620-2622)Ttc>Gtc	p.F874V	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	874					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGGGCGCTGAAATGAGAACTG	0.458																																						ENST00000328086.7		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(2620-2622)Ttc>Gtc		zinc finger with KRAB and SCAN domains 2							86.0	81.0	83.0					16																	25251421		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251421A>C	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2620T>G	16.37:g.25251421A>C	ENSP00000331626:p.Phe874Val	True	False		Somatic	0					p.F874V	NM_001012981.4	NP_001012999.3	WXS	Illumina HiSeq	Phase_I	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	3423	-			874					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.2620T>G	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.026466	0.54683	.	.	ENSG00000155592	ENST00000328086	T	0.18338	2.22	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.173579	0.41823	D	0.000812	T	0.19886	0.0478	L	0.31120	0.905	0.36356	D	0.860369	P;D	0.53619	0.951;0.961	P;P	0.53224	0.696;0.721	T	0.10451	-1.0629	10	0.66056	D	0.02	-9.4959	8.0971	0.30835	0.913:0.0:0.087:0.0	.	670;874	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	V	874	ENSP00000331626:F874V	ENSP00000331626:F874V	F	-	1	0	ZKSCAN2	25158922	0.820000	0.29190	0.998000	0.56505	0.489000	0.33432	1.465000	0.35299	2.315000	0.78130	0.533000	0.62120	TTC		0.458	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	0	NM_001012981		16:25251421
PCDHB7	56129	broad.mit.edu	37	5	140552501	140552501	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:140552501G>A	ENST00000231137.3	+	1	259	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	29					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGGCGCCGAACCGCTTCG	0.517																																						ENST00000231137.3		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(85-87)Gaa>Aaa									166.0	147.0	153.0					5																	140552501		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552501G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.85G>A	5.37:g.140552501G>A	ENSP00000231137:p.Glu29Lys	False	False		Somatic	0					p.E29K	NM_018940.2	NP_061763.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	259	+			29					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.85G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918636	0.33908	.	.	ENSG00000113212	ENST00000231137	T	0.48836	0.8	4.78	4.78	0.61160	.	.	.	.	.	T	0.57533	0.2060	M	0.88377	2.95	0.22017	N	0.999413	B	0.25312	0.123	B	0.21708	0.036	T	0.54029	-0.8354	9	0.40728	T	0.16	.	16.7421	0.85462	0.0:0.0:1.0:0.0	.	29	Q9Y5E2	PCDB7_HUMAN	K	29	ENSP00000231137:E29K	ENSP00000231137:E29K	E	+	1	0	PCDHB7	140532685	0.877000	0.30153	0.510000	0.27712	0.294000	0.27393	5.150000	0.64869	2.353000	0.79882	0.650000	0.86243	GAA		0.517	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	0	NM_018940		5:140552501
KIF1A	547	broad.mit.edu	37	2	241697827	241697827	+	Silent	SNP	G	G	A	rs370648599		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:241697827G>A	ENST00000320389.7	-	25	2663	c.2505C>T	c.(2503-2505)acC>acT	p.T835T	KIF1A_ENST00000498729.2_Silent_p.T844T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	835					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.T835T(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTCTCCGCCGGTCACCACGT	0.637																																						ENST00000498729.2		NA																	1	Substitution - coding silent(1)	p.T835T(1)	endometrium(1)	NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2530-2532)acC>acT		kinesin family member 1A		G		1,4319		0,1,2159	59.0	69.0	66.0		2505	-5.2	0.9	2		66	0,8514		0,0,4257	no	coding-synonymous	KIF1A	NM_004321.5		0,1,6416	AA,AG,GG		0.0,0.0231,0.0078		835/1691	241697827	1,12833	2160	4257	6417	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241697827G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2505C>T	2.37:g.241697827G>A		False	False		Somatic	0				KIF1A_ENST00000320389.7_Silent_p.T835T	p.T844T	NM_001244008.1	NP_001230937.1	WXS	Illumina HiSeq	Phase_I	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	26	2778	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	835					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.2532C>T	CCDS46561.1																																																																																				0.637	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	0	NM_138483		2:241697827
ANXA2R	389289	broad.mit.edu	37	5	43040202	43040202	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:43040202C>T	ENST00000314890.3	-	0	1366				AC025171.1_ENST00000505541.1_RNA|AC025171.1_ENST00000451894.2_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor																		AGTCTCTGCACTACCATCAGC	0.502											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314890.3		NA																	0					NA								annexin A2 receptor																																						389289						receptor activity	g.chr5:43040202C>T	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232		5.37:g.43040202C>T		False	False		Somatic	0	OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913			NM_001014279.2	NP_001014301.1	WXS	Illumina HiSeq	Phase_I	Q3ZCQ2	AX2R_HUMAN			0	1366	-			NA					Q8NHX5	Translation_Start_Site	SNP	ENST00000314890.3	37		CCDS34153.1																																																																																				0.502	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	0	NM_001014279		5:43040202
UNC13C	440279	broad.mit.edu	37	15	54825264	54825264	+	Splice_Site	SNP	C	C	T	rs377163291		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:54825264C>T	ENST00000260323.11	+	25	5696	c.5696C>T	c.(5695-5697)aCa>aTa	p.T1899I	UNC13C_ENST00000545554.1_Splice_Site_p.T1899I|UNC13C_ENST00000537900.1_Splice_Site_p.T1897I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1899	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGGACAAAACGTAAGTTTTT	0.338																																						ENST00000545554.1		NA																	0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5695-5697)aCa>aTa		unc-13 homolog C (C. elegans)		C	ILE/THR	0,3610		0,0,1805	65.0	66.0	66.0		5696	4.9	1.0	15		66	1,8129		0,1,4064	no	missense-near-splice	UNC13C	NM_001080534.1	89	0,1,5869	TT,TC,CC		0.0123,0.0,0.0085	benign	1899/2215	54825264	1,11739	1805	4065	5870	SO:0001630	splice_region_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54825264C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5696+1C>T	15.37:g.54825264C>T		True	False		Somatic	0				UNC13C_ENST00000260323.11_Splice_Site_p.T1899I|UNC13C_ENST00000537900.1_Splice_Site_p.T1897I	p.T1899I			WXS	Illumina HiSeq	Phase_I	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	25	5696	+			1899			MHD2.		Q0P613|Q8ND48|Q96NP3	Splice_Site	SNP	ENST00000260323.11	37	c.5696C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047374	0.36085	0.0	1.23E-4	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.15256	2.44;2.44;2.44	5.83	4.91	0.64330	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.104815	0.64402	D	0.000004	T	0.14570	0.0352	L	0.29908	0.895	0.40999	D	0.98491	B	0.16603	0.018	B	0.16722	0.016	T	0.03863	-1.0997	10	0.39692	T	0.17	.	14.2915	0.66281	0.0:0.9288:0.0:0.0712	.	1899	Q8NB66	UN13C_HUMAN	I	1899;1899;1897	ENSP00000260323:T1899I;ENSP00000438156:T1899I;ENSP00000442569:T1897I	ENSP00000260323:T1899I	T	+	2	0	UNC13C	52612556	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.303000	0.33470	1.472000	0.48140	0.655000	0.94253	ACA		0.338	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	0	NM_173166	Missense_Mutation	15:54825264
ITPR1	3708	broad.mit.edu	37	3	4718357	4718357	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:4718357C>T	ENST00000443694.2	+	21	2794	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W	ITPR1_ENST00000423119.2_Missense_Mutation_p.R938W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.R932W|ITPR1_ENST00000357086.4_Missense_Mutation_p.R938W|ITPR1_ENST00000456211.2_Missense_Mutation_p.R923W|ITPR1_ENST00000354582.6_Missense_Mutation_p.R947W			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	947					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGTGGTGCTCCGGGGAGGAGG	0.562																																						ENST00000354582.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(2839-2841)Cgg>Tgg		inositol 1,4,5-trisphosphate receptor, type 1							74.0	79.0	77.0					3																	4718357		2050	4197	6247	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4718357C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2794C>T	3.37:g.4718357C>T	ENSP00000401671:p.Arg932Trp	True	False		Somatic	0				ITPR1_ENST00000357086.4_Missense_Mutation_p.R938W|ITPR1_ENST00000443694.2_Missense_Mutation_p.R932W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.R923W|ITPR1_ENST00000302640.8_Missense_Mutation_p.R932W|ITPR1_ENST00000423119.2_Missense_Mutation_p.R938W	p.R947W			WXS	Illumina HiSeq	Phase_I	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	24	3189	+			947					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.2839C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400893	0.62177	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	4.1	3.14	0.36123	.	0.000000	0.85682	D	0.000000	D	0.91723	0.7383	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	P;P;D	0.63283	0.821;0.895;0.913	D	0.91805	0.5455	10	0.72032	D	0.01	.	11.6166	0.51094	0.252:0.748:0.0:0.0	.	932;947;938	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	W	947;932;947;938;938;923;932	ENSP00000306253:R932W;ENSP00000346595:R947W;ENSP00000405934:R938W;ENSP00000349597:R938W;ENSP00000397885:R923W;ENSP00000401671:R932W	ENSP00000306253:R932W	R	+	1	2	ITPR1	4693357	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.115000	0.41921	2.280000	0.76307	0.313000	0.20887	CGG		0.562	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	0	NM_002222		3:4718357
MAP1B	4131	broad.mit.edu	37	5	71494871	71494871	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:71494871C>T	ENST00000296755.7	+	5	5987	c.5689C>T	c.(5689-5691)Cgg>Tgg	p.R1897W		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1897					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAGACCACCCGGACCTCAGA	0.453																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5689-5691)Cgg>Tgg		microtubule-associated protein 1B							66.0	71.0	69.0					5																	71494871		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494871C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5689C>T	5.37:g.71494871C>T	ENSP00000296755:p.Arg1897Trp	True	False		Somatic	0					p.R1897W	NM_005909.3	NP_005900.2	WXS	Illumina HiSeq	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5987	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1897					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5689C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	3.470	-0.108223	0.06924	.	.	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.52	3.67	0.42095	.	0.220565	0.30658	N	0.009152	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	D;D	0.65815	0.995;0.995	P;P	0.56823	0.807;0.714	T	0.31696	-0.9934	10	0.87932	D	0	-2.6404	11.924	0.52808	0.4852:0.5148:0.0:0.0	.	1771;1897	A2BDK6;P46821	.;MAP1B_HUMAN	W	1897	ENSP00000296755:R1897W	ENSP00000296755:R1897W	R	+	1	2	MAP1B	71530627	0.001000	0.12720	0.011000	0.14972	0.113000	0.19764	0.695000	0.25527	0.645000	0.30675	0.551000	0.68910	CGG		0.453	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	0	NM_005909		5:71494871
FBN3	84467	broad.mit.edu	37	19	8180474	8180474	+	Missense_Mutation	SNP	C	C	T	rs146523311		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:8180474C>T	ENST00000600128.1	-	30	4177	c.3763G>A	c.(3763-3765)Gag>Aag	p.E1255K	FBN3_ENST00000601739.1_Missense_Mutation_p.E1255K|FBN3_ENST00000270509.2_Missense_Mutation_p.E1255K			Q75N90	FBN3_HUMAN	fibrillin 3	1255	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTCGTGTTCTCGCAGTCCCCA	0.607																																						ENST00000600128.1		NA																	0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(3763-3765)Gag>Aag		fibrillin 3		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	88.0	69.0	76.0		3763	1.8	0.7	19	dbSNP_134	76	0,8600		0,0,4300	no	missense	FBN3	NM_032447.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	1255/2810	8180474	1,13005	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8180474C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3763G>A	19.37:g.8180474C>T	ENSP00000470498:p.Glu1255Lys	False	False		Somatic	0				FBN3_ENST00000270509.2_Missense_Mutation_p.E1255K|FBN3_ENST00000601739.1_Missense_Mutation_p.E1255K	p.E1255K			WXS	Illumina HiSeq	Phase_I	Q75N90	FBN3_HUMAN			30	4177	-			1255			EGF-like 18; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3763G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300009	0.23650	2.27E-4	0.0	ENSG00000142449	ENST00000270509	D	0.87334	-2.24	3.94	1.81	0.25067	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.056825	0.64402	U	0.000002	T	0.76807	0.4039	L	0.37750	1.13	0.53688	D	0.999971	P	0.35050	0.482	B	0.29440	0.102	T	0.68131	-0.5490	10	0.28530	T	0.3	.	9.5212	0.39135	0.0:0.8225:0.0:0.1775	.	1255	Q75N90	FBN3_HUMAN	K	1255	ENSP00000270509:E1255K	ENSP00000270509:E1255K	E	-	1	0	FBN3	8086474	0.991000	0.36638	0.727000	0.30756	0.091000	0.18340	2.896000	0.48656	0.349000	0.23975	-0.254000	0.11334	GAG		0.607	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	0	NM_032447		19:8180474
KLK15	55554	broad.mit.edu	37	19	51330356	51330356	+	Missense_Mutation	SNP	G	G	A	rs61751959	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:51330356G>A	ENST00000598239.1	-	3	289	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	KLK15_ENST00000596931.1_Missense_Mutation_p.R86W|KLK15_ENST00000416184.1_Missense_Mutation_p.R87W|KLK15_ENST00000301421.2_Missense_Mutation_p.R87W|KLK15_ENST00000326856.4_Missense_Mutation_p.R86W	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	87	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GACGTGGTCCGTAGTTGCTCT	0.652																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4		NA																	0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(256-258)Cgg>Tgg		kallikrein-related peptidase 15		G	TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	82.0	70.0	74.0		259,259,259	-0.5	0.0	19	dbSNP_129	74	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense	KLK15	NM_017509.2,NM_138563.1,NM_138564.1	101,101,101	0,8,6495	AA,AG,GG		0.0698,0.0454,0.0615	probably-damaging,probably-damaging,probably-damaging	87/257,87/162,87/172	51330356	8,12998	2203	4300	6503	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330356G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.259C>T	19.37:g.51330356G>A	ENSP00000469315:p.Arg87Trp	False	False		Somatic	0				KLK15_ENST00000596931.1_Missense_Mutation_p.R86W|KLK15_ENST00000598239.1_Missense_Mutation_p.R87W|KLK15_ENST00000301421.2_Missense_Mutation_p.R87W|KLK15_ENST00000416184.1_Missense_Mutation_p.R87W	p.R86W	NM_001277081.1	NP_001264010.1	WXS	Illumina HiSeq	Phase_I	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	385	-		all_neural(266;0.057)	87			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.256C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	18.66	3.671049	0.67814	4.54E-4	6.98E-4	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.93712	-3.27;-3.27	4.51	-0.491	0.12045	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.354502	0.20216	N	0.096801	D	0.96519	0.8864	M	0.90814	3.15	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	P;D;D;D	0.70016	0.892;0.93;0.94;0.967	D	0.92113	0.5697	10	0.87932	D	0	.	13.1286	0.59369	0.0:0.0:0.296:0.704	rs61751959	87;86;87;87	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	W	87	ENSP00000415136:R87W;ENSP00000301421:R87W	ENSP00000301421:R87W	R	-	1	2	KLK15	56022168	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	0.668000	0.25127	-0.033000	0.13736	-0.268000	0.10319	CGG		0.652	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	0	NM_017509		19:51330356
IL2RA	3559	broad.mit.edu	37	10	6063598	6063598	+	Silent	SNP	G	G	A	rs373429536		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr10:6063598G>A	ENST00000379959.3	-	4	599	c.426C>T	c.(424-426)ttC>ttT	p.F142F	IL2RA_ENST00000256876.6_Silent_p.F142F|IL2RA_ENST00000379954.1_Intron	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	142	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)	p.F142F(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCCACCACGAAATGATAAA	0.512																																						ENST00000379959.3		NA																	2	Substitution - coding silent(2)	p.F142F(2)	large_intestine(1)|lung(1)	endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(424-426)ttC>ttT		interleukin 2 receptor, alpha	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						153.0	134.0	140.0					10																	6063598		2203	4300	6503	SO:0001819	synonymous_variant	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6063598G>A	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.426C>T	10.37:g.6063598G>A		True	False		Somatic	0				IL2RA_ENST00000379954.1_Intron|IL2RA_ENST00000256876.6_Silent_p.F142F	p.F142F	NM_000417.2	NP_000408.1	WXS	Illumina HiSeq	Phase_I	P01589	IL2RA_HUMAN			4	599	-			142			Sushi 2.		Q5W007	Silent	SNP	ENST00000379959.3	37	c.426C>T	CCDS7076.1																																																																																				0.512	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	0	NM_000417		10:6063598
ADAMTS19	171019	broad.mit.edu	37	5	128863477	128863477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:128863477C>T	ENST00000274487.4	+	5	1250	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	369	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCTGAGTGTGCAGGTCAATCT	0.299																																						ENST00000274487.4		NA																	0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1105-1107)Cag>Tag		ADAM metallopeptidase with thrombospondin type 1 motif, 19							92.0	97.0	96.0					5																	128863477		2203	4300	6503	SO:0001587	stop_gained	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128863477C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1105C>T	5.37:g.128863477C>T	ENSP00000274487:p.Gln369*	False	False		Somatic	0				CTC-575N7.1_ENST00000503616.1_RNA	p.Q369*	NM_133638.3	NP_598377.3	WXS	Illumina HiSeq	Phase_I	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	5	1250	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	369			Peptidase M12B.			Nonsense_Mutation	SNP	ENST00000274487.4	37	c.1105C>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	35	5.444548	0.96187	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.41	4.41	0.53225	.	0.085473	0.47455	D	0.000231	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.326	0.90254	0.0:1.0:0.0:0.0	.	.	.	.	X	369	.	.	Q	+	1	0	ADAMTS19	128891376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.856000	0.48341	2.737000	0.93849	0.563000	0.77884	CAG		0.299	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	0	NM_133638		5:128863477
ULK1	8408	broad.mit.edu	37	12	132396530	132396530	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:132396530C>T	ENST00000321867.4	+	13	1343	c.992C>T	c.(991-993)cCg>cTg	p.P331L		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	331	Interaction with GABARAP and GABARAPL2.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTGGCCTCCCCGGCTGACACC	0.632																																						ENST00000321867.4		NA																	0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(991-993)cCg>cTg		unc-51 like autophagy activating kinase 1							51.0	47.0	48.0					12																	132396530		2203	4298	6501	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132396530C>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.992C>T	12.37:g.132396530C>T	ENSP00000324560:p.Pro331Leu	True	False		Somatic	0					p.P331L	NM_003565.2	NP_003556	WXS	Illumina HiSeq	Phase_I	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	13	1343	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		331			Interaction with GABARAP and GABARAPL2.		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.992C>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977274	0.53720	.	.	ENSG00000177169	ENST00000321867	T	0.72394	-0.65	4.87	4.87	0.63330	Protein kinase-like domain (1);	0.141351	0.47852	D	0.000218	D	0.82513	0.5053	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	P	0.59546	0.859	D	0.85704	0.1315	10	0.87932	D	0	-38.8868	17.5963	0.88013	0.0:1.0:0.0:0.0	.	331	O75385	ULK1_HUMAN	L	331	ENSP00000324560:P331L	ENSP00000324560:P331L	P	+	2	0	ULK1	130962483	1.000000	0.71417	0.303000	0.25071	0.032000	0.12392	4.382000	0.59594	2.245000	0.73994	0.561000	0.74099	CCG		0.632	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3	0			12:132396530
KL	9365	broad.mit.edu	37	13	33635841	33635841	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:33635841C>T	ENST00000380099.3	+	4	2633	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	875	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|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)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCAATGGAATCGATGACGGGC	0.517																																						ENST00000380099.3		NA																	0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2623-2625)atC>atT		klotho							114.0	113.0	113.0					13																	33635841		2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635841C>T	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2625C>T	13.37:g.33635841C>T		False	False		Somatic	0				KL_ENST00000487852.1_3'UTR	p.I875I	NM_004795.3	NP_004786.2	WXS	Illumina HiSeq	Phase_I	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	2633	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	875			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.2625C>T	CCDS9347.1																																																																																				0.517	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1	0			13:33635841
PCDH11Y	83259	broad.mit.edu	37	Y	4968431	4968431	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chrY:4968431G>C	ENST00000333703.4	+	5	3292	c.2779G>C	c.(2779-2781)Gac>Cac	p.D927H	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D938H|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D938H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	938					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCACACTAGACCTTCCTAT	0.428																																						ENST00000333703.4		NA																	0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2779-2781)Gac>Cac		protocadherin 11 Y-linked																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4968431G>C	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.2779G>C	Y.37:g.4968431G>C	ENSP00000330552:p.Asp927His	False	False		Somatic	0				PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D938H|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D938H	p.D927H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	WXS	Illumina HiSeq	Phase_I	Q9BZA8	PC11Y_HUMAN			5	3292	+			938					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.2779G>C	CCDS14776.1																																																																																				0.428	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	0	NM_032973		Y:4968431
ABCC12	94160	broad.mit.edu	37	16	48174686	48174686	+	Missense_Mutation	SNP	G	G	A	rs535991858		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:48174686G>A	ENST00000311303.3	-	4	914	c.569C>T	c.(568-570)aCg>aTg	p.T190M	ABCC12_ENST00000416054.1_Missense_Mutation_p.T190M|ABCC12_ENST00000448542.1_Missense_Mutation_p.T190M	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	190	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCGGATGGCCGTGCGGTAGTT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19848	0.001		0.0	False		,,,				2504	0.0					ENST00000311303.3		NA																	0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(568-570)aCg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							101.0	104.0	103.0					16																	48174686		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48174686G>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.569C>T	16.37:g.48174686G>A	ENSP00000311030:p.Thr190Met	False	False		Somatic	0				ABCC12_ENST00000416054.1_Missense_Mutation_p.T190M|ABCC12_ENST00000448542.1_Missense_Mutation_p.T190M	p.T190M	NM_033226.2	NP_150229.2	WXS	Illumina HiSeq	Phase_I	Q96J65	MRP9_HUMAN			4	914	-		all_cancers(37;0.0474)|all_lung(18;0.047)	190			ABC transmembrane type-1 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.569C>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641298	0.47153	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.90197	-2.63;-2.63;-2.63	6.07	4.13	0.48395	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94896	0.8350	M	0.84219	2.685	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94242	0.7486	10	0.51188	T	0.08	.	12.0291	0.53388	0.1413:0.0:0.8587:0.0	.	190;190	Q96J65-2;Q96J65	.;MRP9_HUMAN	M	190	ENSP00000311030:T190M;ENSP00000401855:T190M;ENSP00000413046:T190M	ENSP00000311030:T190M	T	-	2	0	ABCC12	46732187	1.000000	0.71417	0.755000	0.31263	0.011000	0.07611	5.520000	0.67080	0.900000	0.36469	0.655000	0.94253	ACG		0.532	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	0	NM_033226		16:48174686
GLI3	2737	broad.mit.edu	37	7	42018305	42018305	+	Missense_Mutation	SNP	C	C	T	rs148502119		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:42018305C>T	ENST00000395925.3	-	11	1624	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	514					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CACCTGCACACGAACTCCTTC	0.443									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3		NA																	0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1540-1542)Gtg>Atg		GLI family zinc finger 3		C	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	98.0	93.0	95.0		1540	5.8	1.0	7	dbSNP_134	95	0,8600		0,0,4300	yes	missense	GLI3	NM_000168.5	21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	514/1581	42018305	2,13004	2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42018305C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1540G>A	7.37:g.42018305C>T	ENSP00000379258:p.Val514Met	False	False		Somatic	0				GLI3_ENST00000479210.1_5'UTR	p.V514M	NM_000168.5	NP_000159.3	WXS	Illumina HiSeq	Phase_I	P10071	GLI3_HUMAN			11	1624	-			514					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1540G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177605	0.94846	4.54E-4	0.0	ENSG00000106571	ENST00000395925	D	0.93811	-3.29	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	D	0.97919	1.0313	10	0.87932	D	0	.	20.1381	0.98040	0.0:1.0:0.0:0.0	.	514	P10071	GLI3_HUMAN	M	514	ENSP00000379258:V514M	ENSP00000379258:V514M	V	-	1	0	GLI3	41984830	1.000000	0.71417	0.989000	0.46669	0.984000	0.73092	7.770000	0.85390	2.763000	0.94921	0.650000	0.86243	GTG		0.443	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	0	NM_000168		7:42018305
LMBR1	64327	broad.mit.edu	37	7	156520649	156520649	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:156520649T>C	ENST00000353442.5	-	12	1204	c.968A>G	c.(967-969)gAa>gGa	p.E323G	LMBR1_ENST00000354505.4_Missense_Mutation_p.E364G|LMBR1_ENST00000359422.4_Missense_Mutation_p.E171G|LMBR1_ENST00000540390.1_Missense_Mutation_p.E302G	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	323					embryonic digit morphogenesis (GO:0042733)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CATTGCTGTTTCATCAACCAA	0.363																																						ENST00000353442.5		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18						c.(967-969)gAa>gGa		limb development membrane protein 1							76.0	68.0	71.0					7																	156520649		2203	4300	6503	SO:0001583	missense	64327					integral to membrane	receptor activity	g.chr7:156520649T>C	AF107454	CCDS5945.1	7q36.3	2013-08-05	2013-08-05	2005-07-25	ENSG00000105983	ENSG00000105983			13243	protein-coding gene	gene with protein product		605522	"""chromosome 7 open reading frame 2"", ""limb region 1 homolog (mouse)"""	C7orf2		10329000, 11090342	Standard	NM_022458		Approved	ACHP, FLJ11665, ZRS	uc003wmw.4	Q8WVP7	OTTHUMG00000151510	ENST00000353442.5:c.968A>G	7.37:g.156520649T>C	ENSP00000326604:p.Glu323Gly	True	False		Somatic	0				LMBR1_ENST00000540390.1_Missense_Mutation_p.E302G|LMBR1_ENST00000359422.4_Missense_Mutation_p.E171G|LMBR1_ENST00000354505.4_Missense_Mutation_p.E364G	p.E323G	NM_022458.3	NP_071903.2	WXS	Illumina HiSeq	Phase_I	Q8WVP7	LMBR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)	12	1204	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	NA					A4D242|Q8N3E3|Q96QZ5|Q9H5N0|Q9HAG9|Q9UDN5|Q9Y6U2	Missense_Mutation	SNP	ENST00000353442.5	37	c.968A>G	CCDS5945.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793587	0.70452	.	.	ENSG00000105983	ENST00000353442;ENST00000359422;ENST00000415428;ENST00000354505;ENST00000540390	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.66	4.66	0.58398	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.40423	0.1116	L	0.31752	0.955	0.80722	D	1	D;B;D	0.89917	0.999;0.084;1.0	D;B;D	0.83275	0.995;0.042;0.996	T	0.11275	-1.0594	10	0.18276	T	0.48	-11.8648	13.7733	0.63038	0.0:0.0:0.0:1.0	.	302;364;323	B7Z633;Q8WVP7-3;Q8WVP7	.;.;LMBR1_HUMAN	G	323;171;362;364;302	ENSP00000326604:E323G;ENSP00000352392:E171G;ENSP00000408256:E362G;ENSP00000346500:E364G;ENSP00000445509:E302G	ENSP00000326604:E323G	E	-	2	0	LMBR1	156213410	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.084000	0.76866	1.750000	0.51863	0.383000	0.25322	GAA		0.363	LMBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347939.3	0	NM_022458		7:156520649
PRSS35	167681	broad.mit.edu	37	6	84233890	84233890	+	Missense_Mutation	SNP	G	G	A	rs541411659		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:84233890G>A	ENST00000369700.3	+	2	907	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	PRSS35_ENST00000536636.1_Missense_Mutation_p.E244K	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	244	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GAGGATTGCCGAAGGGAGGCC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16881	0.0		0.0	False		,,,				2504	0.0					ENST00000536636.1		NA																	0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(730-732)Gaa>Aaa		protease, serine, 35							52.0	61.0	58.0					6																	84233890		2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233890G>A	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.730G>A	6.37:g.84233890G>A	ENSP00000358714:p.Glu244Lys	False	False		Somatic	0				PRSS35_ENST00000369700.3_Missense_Mutation_p.E244K	p.E244K	NM_001170423.1	NP_001163894.1	WXS	Illumina HiSeq	Phase_I	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	1075	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	244			Peptidase S1.		A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.730G>A	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281627	0.23392	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.43294	0.95;0.95	5.65	4.76	0.60689	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.988869	0.08242	N	0.975900	T	0.09512	0.0234	N	0.04508	-0.205	0.28907	N	0.892957	B	0.28801	0.223	B	0.16722	0.016	T	0.22312	-1.0220	10	0.17832	T	0.49	-10.6501	16.2336	0.82360	0.0:0.1375:0.8625:0.0	.	244	Q8N3Z0	PRS35_HUMAN	K	244	ENSP00000440870:E244K;ENSP00000358714:E244K	ENSP00000358714:E244K	E	+	1	0	PRSS35	84290609	0.017000	0.18338	0.008000	0.14137	0.110000	0.19582	1.679000	0.37597	1.349000	0.45751	0.462000	0.41574	GAA		0.567	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	0	NM_153362		6:84233890
TP53	7157	broad.mit.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:7578370C>T	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site	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						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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CAGCTGCTCACCATCGCTATC	0.632		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"""		68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e5+1	Other conserved DNA damage response genes	tumor protein p53							48.0	46.0	47.0					17																	7578370		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578370C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.559+1G>A	17.37:g.7578370C>T		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_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site		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)	5	692	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	NA					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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774230	0.31411	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546	Intron	17:7578370
PLOD1	5351	broad.mit.edu	37	1	12030859	12030859	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:12030859G>A	ENST00000196061.4	+	17	1915	c.1888G>A	c.(1888-1890)Ggc>Agc	p.G630S	PLOD1_ENST00000376369.3_Missense_Mutation_p.G677S	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	630					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	GCTCTACCCCGGCTACTACAC	0.607																																						ENST00000196061.4		NA																	0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1888-1890)Ggc>Agc		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						55.0	49.0	51.0					1																	12030859		2202	4300	6502	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12030859G>A	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1888G>A	1.37:g.12030859G>A	ENSP00000196061:p.Gly630Ser	True	False		Somatic	0				PLOD1_ENST00000376369.3_Missense_Mutation_p.G677S	p.G630S	NM_000302.3	NP_000293.2	WXS	Illumina HiSeq	Phase_I	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	17	1915	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	630					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1888G>A	CCDS142.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864455	0.91511	.	.	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	T;T	0.65916	-0.18;-0.17	5.94	5.94	0.96194	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.89715	3.055	0.80722	D	1	B;B	0.31435	0.323;0.323	B;B	0.23275	0.03;0.045	T	0.73864	-0.3848	10	0.87932	D	0	.	19.3514	0.94389	0.0:0.0:1.0:0.0	.	677;630	B4DR87;Q02809	.;PLOD1_HUMAN	S	294;677;630	ENSP00000365548:G677S;ENSP00000196061:G630S	ENSP00000196061:G630S	G	+	1	0	PLOD1	11953446	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	9.869000	0.99810	2.826000	0.97356	0.561000	0.74099	GGC		0.607	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	0	NM_000302		1:12030859
KIF22	3835	broad.mit.edu	37	16	29814108	29814108	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:29814108C>A	ENST00000160827.4	+	9	1339	c.1299C>A	c.(1297-1299)agC>agA	p.S433R	KIF22_ENST00000400751.5_Missense_Mutation_p.S365R|KIF22_ENST00000569382.2_Missense_Mutation_p.S365R|KIF22_ENST00000561482.1_Missense_Mutation_p.S365R|KIF22_ENST00000400750.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	433				APASASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQ -> SSSLCLPETQPPTEAKAAWTRPCGAPPQLGPSACLPGE P (in Ref. 2; BAA33063). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGAAGCTAAGCAGCATGGACC	0.617																																						ENST00000561482.1		NA																	0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(1093-1095)agC>agA		kinesin family member 22							57.0	62.0	60.0					16																	29814108		2197	4298	6495	SO:0001583	missense	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29814108C>A	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1299C>A	16.37:g.29814108C>A	ENSP00000160827:p.Ser433Arg	False	False		Somatic	0				KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.S365R|KIF22_ENST00000160827.4_Missense_Mutation_p.S433R|KIF22_ENST00000400751.5_Missense_Mutation_p.S365R	p.S365R	NM_001256270.1	NP_001243199.1	WXS	Illumina HiSeq	Phase_I	Q14807	KIF22_HUMAN			9	1732	+			433					B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.1095C>A	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646600	0.47258	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.74002	-0.72;-0.8	5.67	-4.09	0.03951	.	.	.	.	.	T	0.50034	0.1592	N	0.14661	0.345	0.25229	N	0.989848	P;P	0.40731	0.483;0.728	B;B	0.37601	0.084;0.254	T	0.46020	-0.9221	9	0.23891	T	0.37	.	8.278	0.31883	0.0:0.5586:0.2028:0.2385	.	365;433	B7Z265;Q14807	.;KIF22_HUMAN	R	433;365	ENSP00000160827:S433R;ENSP00000383562:S365R	ENSP00000160827:S433R	S	+	3	2	KIF22	29721609	0.167000	0.22975	0.935000	0.37517	0.919000	0.55068	-0.212000	0.09319	-0.299000	0.08909	-0.156000	0.13503	AGC		0.617	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2	0			16:29814108
MAP1B	4131	broad.mit.edu	37	5	71495084	71495084	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr5:71495084G>A	ENST00000296755.7	+	5	6200	c.5902G>A	c.(5902-5904)Gaa>Aaa	p.E1968K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1968					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGCCCCCCCGAAGTGAGTGG	0.478																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5902-5904)Gaa>Aaa		microtubule-associated protein 1B							70.0	75.0	73.0					5																	71495084		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495084G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5902G>A	5.37:g.71495084G>A	ENSP00000296755:p.Glu1968Lys	True	False		Somatic	0					p.E1968K	NM_005909.3	NP_005900.2	WXS	Illumina HiSeq	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6200	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1968					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5902G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840480	0.32513	.	.	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.11	5.11	0.69529	.	0.436414	0.21672	N	0.070842	T	0.04679	0.0127	N	0.08118	0	0.36942	D	0.892433	D;P	0.58268	0.982;0.512	P;B	0.50825	0.651;0.14	T	0.57791	-0.7750	10	0.49607	T	0.09	-6.4359	16.7322	0.85438	0.0:0.0:1.0:0.0	.	1842;1968	A2BDK6;P46821	.;MAP1B_HUMAN	K	1968	ENSP00000296755:E1968K	ENSP00000296755:E1968K	E	+	1	0	MAP1B	71530840	0.787000	0.28750	0.992000	0.48379	0.246000	0.25737	4.449000	0.60034	2.381000	0.81170	0.551000	0.68910	GAA		0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	0	NM_005909		5:71495084
ERBB2	2064	broad.mit.edu	37	17	37863277	37863277	+	Silent	SNP	T	T	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:37863277T>A	ENST00000269571.5	+	2	267	c.108T>A	c.(106-108)ccT>ccA	p.P36P	ERBB2_ENST00000584601.1_Silent_p.P6P|ERBB2_ENST00000541774.1_Silent_p.P21P|ERBB2_ENST00000406381.2_Silent_p.P6P|ERBB2_ENST00000578199.1_Silent_p.P6P|ERBB2_ENST00000584450.1_Silent_p.P36P|ERBB2_ENST00000540042.1_Silent_p.P6P|ERBB2_ENST00000540147.1_Silent_p.P6P|ERBB2_ENST00000445658.2_Intron			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	36					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGCGGCTCCCTGCCAGTCCCG	0.642		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(16-18)ccT>ccA		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						43.0	38.0	39.0					17																	37863277		2202	4295	6497	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37863277T>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.108T>A	17.37:g.37863277T>A		True	False	TCGA GBM(5;<1E-08)	Somatic	0				ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540147.1_Silent_p.P6P|ERBB2_ENST00000584601.1_Silent_p.P6P|ERBB2_ENST00000578199.1_Silent_p.P6P|ERBB2_ENST00000269571.5_Silent_p.P36P|ERBB2_ENST00000584450.1_Silent_p.P36P|ERBB2_ENST00000541774.1_Silent_p.P21P|ERBB2_ENST00000540042.1_Silent_p.P6P	p.P6P	NM_001005862.1	NP_001005862.1	WXS	Illumina HiSeq	Phase_I	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	4	528	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	36					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.18T>A	CCDS32642.1																																																																																				0.642	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2	0			17:37863277
USP31	57478	broad.mit.edu	37	16	23119457	23119457	+	Silent	SNP	A	A	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:23119457A>G	ENST00000219689.7	-	2	680	c.681T>C	c.(679-681)caT>caC	p.H227H		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	180	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCTGGGCATCATGTTGGGAAT	0.478																																						ENST00000219689.7		NA																	0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(679-681)caT>caC		ubiquitin specific peptidase 31							100.0	96.0	97.0					16																	23119457		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23119457A>G	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.681T>C	16.37:g.23119457A>G		False	False		Somatic	0					p.H227H	NM_020718.3	NP_065769.3	WXS	Illumina HiSeq	Phase_I	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	2	680	-			227					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.681T>C	CCDS10607.1																																																																																				0.478	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	0	NM_020718		16:23119457
ZNF181	339318	broad.mit.edu	37	19	35232318	35232318	+	Silent	SNP	T	T	G	rs2607243		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:35232318T>G	ENST00000492450.1	+	4	1121	c.1032T>G	c.(1030-1032)acT>acG	p.T344T	ZNF181_ENST00000459757.2_Silent_p.T343T|ZNF181_ENST00000392232.3_Silent_p.T388T			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAATTCATACTCAAGAAAAAC	0.388																																						ENST00000392232.3		NA																	0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1162-1164)acT>acG		zinc finger protein 181							69.0	69.0	69.0					19																	35232318		2203	4300	6503	SO:0001819	synonymous_variant	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232318T>G	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1032T>G	19.37:g.35232318T>G		False	False		Somatic	0				ZNF181_ENST00000459757.2_Silent_p.T343T|ZNF181_ENST00000492450.1_Silent_p.T344T	p.T388T			WXS	Illumina HiSeq	Phase_I	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1332	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		344					B7ZKX3|Q49A75	Silent	SNP	ENST00000492450.1	37	c.1164T>G	CCDS32990.2																																																																																				0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	0	NM_001029997		19:35232318
FASTKD5	60493	broad.mit.edu	37	20	3128938	3128938	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:3128938C>T	ENST00000380266.3	-	2	1100	c.779G>A	c.(778-780)aGg>aAg	p.R260K	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	260					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GTTTAAAAACCTAGGTACTTT	0.398																																						ENST00000380266.3		NA																	0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(778-780)aGg>aAg		FAST kinase domains 5							43.0	46.0	45.0					20																	3128938		2199	4300	6499	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128938C>T	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.779G>A	20.37:g.3128938C>T	ENSP00000369618:p.Arg260Lys	False	False		Somatic	0				UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.R260K	NM_021826.4	NP_068598.1	WXS	Illumina HiSeq	Phase_I	Q7L8L6	FAKD5_HUMAN			2	1100	-			260					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.779G>A	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	0.061	-1.223539	0.01530	.	.	ENSG00000215251	ENST00000380266	T	0.14391	2.51	5.77	3.84	0.44239	.	0.385251	0.24361	N	0.039183	T	0.06781	0.0173	N	0.17082	0.46	0.09310	N	1	B	0.26195	0.144	B	0.19148	0.024	T	0.36915	-0.9728	10	0.10111	T	0.7	.	8.6173	0.33840	0.0:0.7197:0.1364:0.1439	.	260	Q7L8L6	FAKD5_HUMAN	K	260	ENSP00000369618:R260K	ENSP00000369618:R260K	R	-	2	0	FASTKD5	3076938	0.693000	0.27728	0.998000	0.56505	0.099000	0.18886	0.884000	0.28214	1.443000	0.47586	0.460000	0.39030	AGG		0.398	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	0	NM_021826		20:3128938
SLAIN1	122060	broad.mit.edu	37	13	78293775	78293775	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:78293775G>A	ENST00000466548.1	+	3	695	c.669G>A	c.(667-669)gcG>gcA	p.A223A	SLAIN1_ENST00000418532.1_Silent_p.A4A|SLAIN1_ENST00000267219.8_Silent_p.A4A|SLAIN1_ENST00000488699.1_Silent_p.A81A	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	223										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TGGAAGCAGCGAGACGTTCCC	0.468																																						ENST00000466548.1		NA																	0				breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(667-669)gcG>gcA		SLAIN motif family, member 1							378.0	301.0	327.0					13																	78293775		2203	4300	6503	SO:0001819	synonymous_variant	122060							g.chr13:78293775G>A	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.669G>A	13.37:g.78293775G>A		False	False		Somatic	0				SLAIN1_ENST00000418532.1_Silent_p.A4A|SLAIN1_ENST00000267219.8_Silent_p.A4A|SLAIN1_ENST00000488699.1_Silent_p.A81A	p.A223A	NM_001242868.1	NP_001229797.1	WXS	Illumina HiSeq	Phase_I	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	3	695	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	223					A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Silent	SNP	ENST00000466548.1	37	c.669G>A																																																																																					0.468	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	0	NM_144595		13:78293775
DCLK2	166614	broad.mit.edu	37	4	151160950	151160950	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr4:151160950G>A	ENST00000296550.7	+	11	2377	c.1623G>A	c.(1621-1623)gcG>gcA	p.A541A	DCLK2_ENST00000506325.1_Silent_p.A540A|DCLK2_ENST00000302176.8_Silent_p.A558A	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	541	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTGGGCTTGCGACTGTGGTAG	0.458																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(1621-1623)gcG>gcA		doublecortin-like kinase 2							138.0	137.0	138.0					4																	151160950		2203	4300	6503	SO:0001819	synonymous_variant	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151160950G>A	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1623G>A	4.37:g.151160950G>A		False	False		Somatic	0				DCLK2_ENST00000302176.8_Silent_p.A558A|DCLK2_ENST00000506325.1_Silent_p.A540A	p.A541A	NM_001040260.3	NP_001035350.2	WXS	Illumina HiSeq	Phase_I	Q8N568	DCLK2_HUMAN			11	2377	+	all_hematologic(180;0.151)		541			Protein kinase.		C9J5Q9|Q59GC8|Q8N399	Silent	SNP	ENST00000296550.7	37	c.1623G>A	CCDS34076.1																																																																																				0.458	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	0	NM_001040260		4:151160950
DHX38	9785	broad.mit.edu	37	16	72132878	72132878	+	Nonsense_Mutation	SNP	A	A	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:72132878A>T	ENST00000268482.3	+	6	1326	c.817A>T	c.(817-819)Aaa>Taa	p.K273*	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	273					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCTCCTACAAATATAACGA	0.592																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3		NA																	0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(817-819)Aaa>Taa		DEAH (Asp-Glu-Ala-His) box polypeptide 38							57.0	56.0	56.0					16																	72132878		2198	4300	6498	SO:0001587	stop_gained	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72132878A>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.817A>T	16.37:g.72132878A>T	ENSP00000268482:p.Lys273*	True	False		Somatic	0				DHX38_ENST00000536867.1_Intron	p.K273*	NM_014003.3	NP_054722.2	WXS	Illumina HiSeq	Phase_I	Q92620	PRP16_HUMAN			6	1326	+		Ovarian(137;0.125)	273					B4DVG8|D3DWS7|O75212|Q96HN7	Nonsense_Mutation	SNP	ENST00000268482.3	37	c.817A>T	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	A	41	8.828726	0.98970	.	.	ENSG00000140829	ENST00000268482	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7562	0.69567	1.0:0.0:0.0:0.0	.	.	.	.	X	273	.	ENSP00000268482:K273X	K	+	1	0	DHX38	70690379	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	8.784000	0.91818	1.958000	0.56883	0.460000	0.39030	AAA		0.592	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	0	NM_014003		16:72132878
WFDC10A	140832	broad.mit.edu	37	20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372643.3		NA																	0				large_intestine(2)	2						c.(79-81)aAg>aTg		WAP four-disulfide core domain 10A							164.0	128.0	140.0					20																	44258532		2203	4300	6503	SO:0001583	missense	140832					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44258532A>T	AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"""WAP four-disulfide core domain containing"""	16139	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 146"""	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.80A>T	20.37:g.44258532A>T	ENSP00000361726:p.Lys27Met	False	False		Somatic	0	OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	WFDC9_ENST00000326000.1_Intron	p.K27M	NM_080753.2	NP_542791.1	WXS	Illumina HiSeq	Phase_I	Q9H1F0	WF10A_HUMAN			1	368	+		Myeloproliferative disorder(115;0.0122)	27					A2RRE9|Q5TGZ7	Missense_Mutation	SNP	ENST00000372643.3	37	c.80A>T	CCDS13363.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394655	0.25205	.	.	ENSG00000180305	ENST00000372643	T	0.20069	2.1	2.43	-1.2	0.09554	.	3.060220	0.01594	N	0.021727	T	0.26159	0.0638	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.11542	-1.0583	9	0.37606	T	0.19	.	2.1255	0.03737	0.4267:0.0:0.3261:0.2472	.	27	Q9H1F0	WF10A_HUMAN	M	27	ENSP00000361726:K27M	ENSP00000361726:K27M	K	+	2	0	WFDC10A	43691946	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.356000	0.07661	-0.311000	0.08754	-0.274000	0.10170	AAG		0.587	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106944.2	0			20:44258532
CACNA1H	8912	broad.mit.edu	37	16	1246017	1246017	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:1246017G>A	ENST00000348261.5	+	5	885	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	213					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CATCAACCGCGTGCCTAGTAA	0.652																																						ENST00000348261.5		NA																	0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(637-639)Gtg>Atg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						41.0	49.0	47.0					16																	1246017		2016	4165	6181	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1246017G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.637G>A	16.37:g.1246017G>A	ENSP00000334198:p.Val213Met	False	False		Somatic	0				CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M	p.V213M	NM_021098.2	NP_066921.2	WXS	Illumina HiSeq	Phase_I	O95180	CAC1H_HUMAN			5	885	+		Hepatocellular(780;0.00369)	213					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.637G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447525	0.63178	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98649	-5.05;-5.05	4.23	4.23	0.50019	Ion transport (1);	0.149470	0.44688	N	0.000436	D	0.99080	0.9684	M	0.83774	2.66	0.40988	D	0.984831	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.99875	1.1103	10	0.87932	D	0	.	15.9489	0.79817	0.0:0.0:1.0:0.0	.	213;213	O95180-2;O95180	.;CAC1H_HUMAN	M	213	ENSP00000334198:V213M;ENSP00000351401:V213M	ENSP00000334198:V213M	V	+	1	0	CACNA1H	1186018	1.000000	0.71417	0.923000	0.36655	0.020000	0.10135	9.594000	0.98254	2.061000	0.61500	0.478000	0.44815	GTG		0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	0	NM_001005407		16:1246017
RYR3	6263	broad.mit.edu	37	15	34130031	34130031	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:34130031G>A	ENST00000389232.4	+	89	11920	c.11850G>A	c.(11848-11850)ggG>ggA	p.G3950G	RYR3_ENST00000415757.3_Silent_p.G3945G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3950					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.G3949G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGGAAGGGCAAAAACAGT	0.408																																						ENST00000389232.4		NA																	1	Substitution - coding silent(1)	p.G3949G(1)	lung(1)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11848-11850)ggG>ggA		ryanodine receptor 3							109.0	105.0	107.0					15																	34130031		1905	4114	6019	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130031G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11850G>A	15.37:g.34130031G>A		True	False		Somatic	0				RYR3_ENST00000415757.3_Silent_p.G3945G	p.G3950G	NM_001036.3	NP_001027.3	WXS	Illumina HiSeq	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11920	+		all_lung(180;7.18e-09)	3950			EF-hand.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.11850G>A	CCDS45210.1																																																																																				0.408	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	0			15:34130031
PASK	23178	broad.mit.edu	37	2	242065640	242065640	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:242065640C>T	ENST00000405260.1	-	10	3388	c.2690G>A	c.(2689-2691)aGc>aAc	p.S897N	PASK_ENST00000544142.1_Missense_Mutation_p.S711N|PASK_ENST00000403638.3_Missense_Mutation_p.S897N|PASK_ENST00000234040.4_Missense_Mutation_p.S897N|PASK_ENST00000539818.1_Missense_Mutation_p.S681N|PASK_ENST00000358649.4_Missense_Mutation_p.S897N	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	897					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ATGGTAGCAGCTCCCGGAGTA	0.647																																						ENST00000403638.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(2689-2691)aGc>aAc		PAS domain containing serine/threonine kinase							73.0	58.0	63.0					2																	242065640		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242065640C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2690G>A	2.37:g.242065640C>T	ENSP00000384016:p.Ser897Asn	False	False		Somatic	0				PASK_ENST00000405260.1_Missense_Mutation_p.S897N|PASK_ENST00000358649.4_Missense_Mutation_p.S897N|PASK_ENST00000234040.4_Missense_Mutation_p.S897N|PASK_ENST00000544142.1_Missense_Mutation_p.S711N|PASK_ENST00000539818.1_Missense_Mutation_p.S681N	p.S897N	NM_001252124.1	NP_001239053.1	WXS	Illumina HiSeq	Phase_I	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2781	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	897					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.2690G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	8.379	0.837154	0.16891	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.34;-0.37;0.58	4.94	3.07	0.35406	.	0.267711	0.32357	N	0.006217	T	0.68943	0.3056	L	0.53249	1.67	0.26862	N	0.967935	B;B;B;D;B	0.65815	0.245;0.36;0.2;0.995;0.245	B;B;B;P;B	0.61477	0.052;0.112;0.069;0.889;0.052	T	0.57602	-0.7783	10	0.28530	T	0.3	.	5.2403	0.15467	0.0:0.644:0.1701:0.1859	.	862;711;897;897;897	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	N	897;711;897;897;681;897	ENSP00000234040:S897N;ENSP00000441374:S711N;ENSP00000384016:S897N;ENSP00000351475:S897N;ENSP00000443083:S681N;ENSP00000384438:S897N	ENSP00000234040:S897N	S	-	2	0	PASK	241714313	0.998000	0.40836	0.992000	0.48379	0.111000	0.19643	0.836000	0.27545	1.084000	0.41184	0.561000	0.74099	AGC		0.647	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	0	NM_015148		2:242065640
ASPM	259266	broad.mit.edu	37	1	197072286	197072286	+	Missense_Mutation	SNP	C	C	T	rs149033840		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:197072286C>T	ENST00000367409.4	-	18	6351	c.6095G>A	c.(6094-6096)cGt>cAt	p.R2032H	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2032	IQ 14. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTCATACCACGATAAGCTGA	0.333																																						ENST00000367409.4		NA																	0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6094-6096)cGt>cAt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			,HIS/ARG	0,4406		0,0,2203	95.0	99.0	98.0		,6095	5.6	0.7	1	dbSNP_134	98	1,8593	1.2+/-3.3	0,1,4296	no	intron,missense	ASPM	NM_001206846.1,NM_018136.4	,29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,2032/3478	197072286	1,12999	2203	4297	6500	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072286C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6095G>A	1.37:g.197072286C>T	ENSP00000356379:p.Arg2032His	False	False		Somatic	0				ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.R2032H	NM_018136.4	NP_060606.3	WXS	Illumina HiSeq	Phase_I	Q8IZT6	ASPM_HUMAN			18	6351	-			2032			IQ 14.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6095G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	29.9	5.043488	0.93685	0.0	1.16E-4	ENSG00000066279	ENST00000367409	T	0.77098	-1.07	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000004	D	0.93012	0.7776	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95297	0.8400	10	0.87932	D	0	.	18.5928	0.91220	0.0:1.0:0.0:0.0	.	2032	Q8IZT6	ASPM_HUMAN	H	2032	ENSP00000356379:R2032H	ENSP00000356379:R2032H	R	-	2	0	ASPM	195338909	1.000000	0.71417	0.711000	0.30485	0.987000	0.75469	4.754000	0.62191	2.635000	0.89317	0.632000	0.83419	CGT		0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	NM_018136		1:197072286
FERMT2	10979	broad.mit.edu	37	14	53386031	53386031	+	Silent	SNP	C	C	T	rs567979465		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr14:53386031C>T	ENST00000395631.2	-	3	417	c.201G>A	c.(199-201)aaG>aaA	p.K67K	FERMT2_ENST00000553373.1_Silent_p.K67K|FERMT2_ENST00000399304.3_Silent_p.K67K|FERMT2_ENST00000343279.4_Silent_p.K67K|FERMT2_ENST00000341590.3_Silent_p.K67K			Q96AC1	FERM2_HUMAN	fermitin family member 2	67	Interaction with membranes containing phosphatidylinositol phosphate.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AAGTTCTCTTCTTTTCCCACC	0.393																																						ENST00000395631.2		NA																ERO1L/FERMT2(2)	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(199-201)aaG>aaA		fermitin family member 2							129.0	119.0	123.0					14																	53386031		2203	4300	6503	SO:0001819	synonymous_variant	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53386031C>T	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.201G>A	14.37:g.53386031C>T		True	False		Somatic	0				FERMT2_ENST00000553373.1_Silent_p.K67K|FERMT2_ENST00000399304.3_Silent_p.K67K|FERMT2_ENST00000343279.4_Silent_p.K67K|FERMT2_ENST00000341590.3_Silent_p.K67K	p.K67K			WXS	Illumina HiSeq	Phase_I	Q96AC1	FERM2_HUMAN			3	417	-	Breast(41;0.0342)		67					B5TJY2|Q14840|Q86TY7	Silent	SNP	ENST00000395631.2	37	c.201G>A	CCDS9713.1																																																																																				0.393	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	0	NM_006832		14:53386031
SSX2IP	117178	broad.mit.edu	37	1	85124124	85124124	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:85124124C>T	ENST00000342203.3	-	9	1218	c.955G>A	c.(955-957)Ggg>Agg	p.G319R	SSX2IP_ENST00000437941.2_Missense_Mutation_p.G292R|SSX2IP_ENST00000605755.1_Missense_Mutation_p.G292R|SSX2IP_ENST00000370612.4_Missense_Mutation_p.G319R|SSX2IP_ENST00000603677.1_Intron	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	319					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTAGTTCCCCGGCATCTTCT	0.438																																						ENST00000437941.2		NA																	0				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19						c.(874-876)Ggg>Agg		synovial sarcoma, X breakpoint 2 interacting protein							105.0	90.0	95.0					1																	85124124		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85124124C>T		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.955G>A	1.37:g.85124124C>T	ENSP00000340279:p.Gly319Arg	True	False		Somatic	0				SSX2IP_ENST00000605755.1_Missense_Mutation_p.G292R|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000342203.3_Missense_Mutation_p.G319R|SSX2IP_ENST00000370612.4_Missense_Mutation_p.G319R	p.G292R	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	WXS	Illumina HiSeq	Phase_I	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	8	1226	-			319					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.874G>A	CCDS699.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325317	0.81580	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.49720	0.77;0.77	5.76	4.77	0.60923	.	0.455024	0.25037	N	0.033632	T	0.45796	0.1360	L	0.47716	1.5	0.35549	D	0.803693	D;D;D	0.63046	0.99;0.992;0.985	P;P;P	0.53760	0.615;0.734;0.648	T	0.42766	-0.9432	10	0.46703	T	0.11	.	17.5251	0.87798	0.1322:0.8678:0.0:0.0	.	315;319;292	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	R	319;292;315;319	ENSP00000340279:G319R;ENSP00000412781:G292R	ENSP00000340279:G319R	G	-	1	0	SSX2IP	84896712	0.967000	0.33354	0.993000	0.49108	0.938000	0.57974	4.489000	0.60309	2.732000	0.93576	0.655000	0.94253	GGG		0.438	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	0	NM_014021		1:85124124
CPB2	1361	broad.mit.edu	37	13	46638808	46638808	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:46638808C>T	ENST00000181383.4	-	8	787	c.771G>A	c.(769-771)agG>agA	p.R257R	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Silent_p.R220R	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	257					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		AAGCAAAGTTCCTATTCAGGT	0.413																																						ENST00000181383.4		NA																	0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(769-771)agG>agA		carboxypeptidase B2 (plasma)							182.0	152.0	162.0					13																	46638808		2203	4300	6503	SO:0001819	synonymous_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46638808C>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.771G>A	13.37:g.46638808C>T		False	False		Somatic	0				CPB2_ENST00000439329.3_Silent_p.R220R|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA	p.R257R	NM_001872.3	NP_001863.3	WXS	Illumina HiSeq	Phase_I	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	8	787	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	257					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Silent	SNP	ENST00000181383.4	37	c.771G>A	CCDS9401.1																																																																																				0.413	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	0	NM_001872		13:46638808
NUB1	51667	broad.mit.edu	37	7	151072988	151072988	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:151072988G>A	ENST00000355851.4	+	13	1527	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	WDR86_ENST00000463000.1_5'Flank|NUB1_ENST00000413040.2_Missense_Mutation_p.D494N|NUB1_ENST00000568733.1_Missense_Mutation_p.D508N|NUB1_ENST00000566856.1_Missense_Mutation_p.D470N	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	484					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCCTGAAACCGACAACCGTCA	0.493																																						ENST00000568733.1		NA																	0				endometrium(1)|large_intestine(7)|lung(3)	11						c.(1522-1524)Gac>Aac		negative regulator of ubiquitin-like proteins 1							221.0	219.0	220.0					7																	151072988		1963	4143	6106	SO:0001583	missense	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151072988G>A	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1450G>A	7.37:g.151072988G>A	ENSP00000348110:p.Asp484Asn	False	False		Somatic	0				NUB1_ENST00000355851.4_Missense_Mutation_p.D484N|NUB1_ENST00000413040.2_Missense_Mutation_p.D494N|NUB1_ENST00000566856.1_Missense_Mutation_p.D470N	p.D508N			WXS	Illumina HiSeq	Phase_I	Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	13	1588	+			484			UBA 3.		O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37	c.1522G>A		.	.	.	.	.	.	.	.	.	.	G	0.012	-1.671641	0.00758	.	.	ENSG00000013374	ENST00000413040;ENST00000355851	T	0.42513	0.97	5.29	1.42	0.22433	UBA-like (1);	0.997169	0.08136	N	0.992432	T	0.13329	0.0323	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30475	-0.9977	10	0.02654	T	1	-13.5194	3.5859	0.07970	0.6533:0.1362:0.0787:0.1318	.	484;470	Q9Y5A7;Q9Y5A7-2	NUB1_HUMAN;.	N	470;484	ENSP00000348110:D484N	ENSP00000348110:D484N	D	+	1	0	NUB1	150703921	0.001000	0.12720	0.000000	0.03702	0.077000	0.17291	1.025000	0.30090	0.109000	0.17891	-1.421000	0.01109	GAC		0.493	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_016118		7:151072988
ARFGEF2	10564	broad.mit.edu	37	20	47569336	47569336	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:47569336G>A	ENST00000371917.4	+	5	518	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	173	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TATTTGGCCAGCAAAAATCTC	0.443																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4		NA																	0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(517-519)aGc>aAc		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							144.0	128.0	134.0					20																	47569336		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47569336G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.518G>A	20.37:g.47569336G>A	ENSP00000360985:p.Ser173Asn	False	False		Somatic	0					p.S173N	NM_006420.2	NP_006411.2	WXS	Illumina HiSeq	Phase_I	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		5	518	+			173					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.518G>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522113	0.96416	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.33654	1.4	6.06	6.06	0.98353	Armadillo-type fold (1);	0.079509	0.85682	D	0.000000	T	0.74366	0.3707	H	0.96208	3.785	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.81656	-0.0834	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	173	Q9Y6D5	BIG2_HUMAN	N	173	ENSP00000360985:S173N	ENSP00000360985:S173N	S	+	2	0	ARFGEF2	47002743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.857000	0.99534	2.882000	0.98803	0.655000	0.94253	AGC		0.443	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	0	NM_006420		20:47569336
GCC2	9648	broad.mit.edu	37	2	109092224	109092224	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:109092224A>G	ENST00000309863.6	+	9	3692	c.2978A>G	c.(2977-2979)gAa>gGa	p.E993G		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	993					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTGTGAAGGAAGAACTTGAA	0.313																																						ENST00000309863.6		NA																	0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2977-2979)gAa>gGa		GRIP and coiled-coil domain containing 2							48.0	53.0	51.0					2																	109092224		2203	4296	6499	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109092224A>G	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2978A>G	2.37:g.109092224A>G	ENSP00000307939:p.Glu993Gly	True	False		Somatic	0					p.E993G	NM_181453.3	NP_852118	WXS	Illumina HiSeq	Phase_I	Q8IWJ2	GCC2_HUMAN			9	3692	+			993					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.2978A>G	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561512	0.65538	.	.	ENSG00000135968	ENST00000309863	T	0.37752	1.18	5.69	4.47	0.54385	.	0.060927	0.64402	D	0.000005	T	0.36193	0.0958	M	0.65975	2.015	0.43719	D	0.996197	D	0.53619	0.961	P	0.44597	0.454	T	0.14643	-1.0465	10	0.35671	T	0.21	.	8.0869	0.30777	0.7272:0.1393:0.0:0.1335	.	993	Q8IWJ2	GCC2_HUMAN	G	993	ENSP00000307939:E993G	ENSP00000307939:E993G	E	+	2	0	GCC2	108458656	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	4.657000	0.61490	2.296000	0.77279	0.533000	0.62120	GAA		0.313	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	0	NM_014635		2:109092224
DSCAM	1826	broad.mit.edu	37	21	41710288	41710288	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr21:41710288C>T	ENST00000400454.1	-	8	2000	c.1523G>A	c.(1522-1524)cGa>cAa	p.R508Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	508	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTCATTGGTCGAATGCTTGC	0.403																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1522-1524)cGa>cAa		Down syndrome cell adhesion molecule							142.0	132.0	135.0					21																	41710288		1906	4132	6038	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41710288C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1523G>A	21.37:g.41710288C>T	ENSP00000383303:p.Arg508Gln	False	False		Somatic	0					p.R508Q	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	WXS	Illumina HiSeq	Phase_I	O60469	DSCAM_HUMAN			8	2000	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	508			Ig-like C2-type 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1523G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256495	0.95336	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.64260	-0.09;-0.09	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.75042	0.3796	L	0.50847	1.595	0.53688	D	0.999972	D	0.76494	0.999	D	0.68192	0.956	T	0.70963	-0.4729	10	0.35671	T	0.21	.	19.9857	0.97347	0.0:1.0:0.0:0.0	.	508	O60469	DSCAM_HUMAN	Q	508;260	ENSP00000383303:R508Q;ENSP00000385342:R260Q	ENSP00000383303:R508Q	R	-	2	0	DSCAM	40632158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.656000	0.83736	2.724000	0.93272	0.655000	0.94253	CGA		0.403	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	0	NM_001389		21:41710288
CPXM2	119587	broad.mit.edu	37	10	125557591	125557591	+	Missense_Mutation	SNP	C	C	T	rs199927775		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr10:125557591C>T	ENST00000241305.3	-	6	944	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	264	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACCATGGGGACGGGTAGCTCA	0.483																																						ENST00000241305.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(790-792)Gtc>Atc		carboxypeptidase X (M14 family), member 2							130.0	110.0	117.0					10																	125557591		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125557591C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.790G>A	10.37:g.125557591C>T	ENSP00000241305:p.Val264Ile	True	False		Somatic	0				CPXM2_ENST00000368854.3_5'UTR	p.V264I	NM_198148.2	NP_937791.2	WXS	Illumina HiSeq	Phase_I	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	6	944	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	264			F5/8 type C.		B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.790G>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	6.854	0.526842	0.13066	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.98164	-4.76	4.46	4.46	0.54185	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.450854	0.23631	N	0.046134	D	0.95850	0.8649	L	0.45051	1.395	0.25694	N	0.985655	P	0.41420	0.749	B	0.36534	0.227	D	0.90460	0.4445	10	0.23891	T	0.37	-14.947	17.3109	0.87210	0.0:1.0:0.0:0.0	.	264	Q8N436	CPXM2_HUMAN	I	264;97;264	ENSP00000241305:V264I	ENSP00000241305:V264I	V	-	1	0	CPXM2	125547581	0.000000	0.05858	0.972000	0.41901	0.126000	0.20510	0.687000	0.25407	2.292000	0.77174	0.557000	0.71058	GTC		0.483	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	0	NM_198148		10:125557591
OR7G1	125962	broad.mit.edu	37	19	9225729	9225729	+	Silent	SNP	C	C	T	rs138779373	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:9225729C>T	ENST00000541538.1	-	1	710	c.711G>A	c.(709-711)gcG>gcA	p.A237A	OR7G1_ENST00000293614.1_Silent_p.A237A	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGGTGGAAAACGCTTTATACT	0.418																																						ENST00000293614.1		NA																	0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						c.(709-711)gcG>gcA		olfactory receptor, family 7, subfamily G, member 1							94.0	95.0	95.0					19																	9225729		2203	4300	6503	SO:0001819	synonymous_variant	125962				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9225729C>T		CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.711G>A	19.37:g.9225729C>T		True	False		Somatic	0				OR7G1_ENST00000541538.1_Silent_p.A237A	p.A237A			WXS	Illumina HiSeq	Phase_I	Q8NGA0	OR7G1_HUMAN			1	710	-			237					Q6IFJ5|Q96RA1	Silent	SNP	ENST00000541538.1	37	c.711G>A	CCDS32898.2																																																																																				0.418	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1	0			19:9225729
ERBB4	2066	broad.mit.edu	37	2	212589855	212589855	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:212589855G>A	ENST00000342788.4	-	6	997	c.687C>T	c.(685-687)tgC>tgT	p.C229C	ERBB4_ENST00000436443.1_Silent_p.C229C|ERBB4_ENST00000484474.1_5'Flank|ERBB4_ENST00000402597.1_Silent_p.C229C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	229	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTCGATGGCAGCAGTCACTGA	0.483										TSP Lung(8;0.080)																												ENST00000342788.4		NA																	0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(685-687)tgC>tgT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							141.0	125.0	131.0					2																	212589855		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212589855G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.687C>T	2.37:g.212589855G>A		False	False	TSP Lung(8;0.080)	Somatic	0				ERBB4_ENST00000402597.1_Silent_p.C229C|ERBB4_ENST00000436443.1_Silent_p.C229C	p.C229C	NM_005235.2	NP_005226.1	WXS	Illumina HiSeq	Phase_I	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	6	997	-		Renal(323;0.06)|Lung NSC(271;0.197)	229			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.687C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555768	0.27827	.	.	ENSG00000178568	ENST00000260943	.	.	.	5.73	4.86	0.63082	.	.	.	.	.	T	0.70343	0.3213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69727	-0.5067	4	.	.	.	.	14.5226	0.67863	0.0703:0.0:0.9297:0.0	.	.	.	.	V	229	.	.	A	-	2	0	ERBB4	212298100	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.210000	0.58500	1.433000	0.47394	0.650000	0.86243	GCT		0.483	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	0	NM_001042599		2:212589855
RFC4	5984	broad.mit.edu	37	3	186518951	186518951	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:186518951C>T	ENST00000392481.2	-	3	446	c.165G>A	c.(163-165)caG>caA	p.Q55Q	RFC4_ENST00000433496.1_Silent_p.Q55Q|RFC4_ENST00000296273.2_Silent_p.Q55Q	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	55					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CCACTTCTTCCTGGAAAGCAA	0.383																																						ENST00000392481.2		NA																	0				breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(163-165)caG>caA		replication factor C (activator 1) 4, 37kDa							119.0	128.0	125.0					3																	186518951		2203	4300	6503	SO:0001819	synonymous_variant	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186518951C>T		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.165G>A	3.37:g.186518951C>T		False	False		Somatic	0				RFC4_ENST00000433496.1_Silent_p.Q55Q|RFC4_ENST00000296273.2_Silent_p.Q55Q	p.Q55Q	NM_181573.2	NP_853551.1	WXS	Illumina HiSeq	Phase_I	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	3	446	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		55					B4DM41|D3DNV2|Q6FHX7	Silent	SNP	ENST00000392481.2	37	c.165G>A	CCDS3283.1																																																																																				0.383	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	0	NM_002916		3:186518951
SEPT1	1731	broad.mit.edu	37	16	30393182	30393182	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:30393182G>A	ENST00000571393.1	-	5	390	c.204C>T	c.(202-204)gcC>gcT	p.A68A	SEPT1_ENST00000605106.1_Silent_p.A73A|SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000321367.3_Silent_p.A115A			Q8WYJ6	SEPT1_HUMAN	septin 1	68	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GGCGCTCAATGGCCAGGGTCT	0.562																																						ENST00000321367.3		NA																	0				breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24						c.(343-345)gcC>gcT		septin 1							109.0	107.0	108.0					16																	30393182		2197	4300	6497	SO:0001819	synonymous_variant	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30393182G>A	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.204C>T	16.37:g.30393182G>A		False	False		Somatic	0				SEPT1_ENST00000605106.1_Silent_p.A73A|SEPT1_ENST00000571393.1_Silent_p.A68A	p.A115A	NM_052838.4	NP_443070.5	WXS	Illumina HiSeq	Phase_I	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		5	390	-			68					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	ENST00000571393.1	37	c.345C>T																																																																																					0.562	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		0	NM_052838		16:30393182
PPM1F	9647	broad.mit.edu	37	22	22277807	22277807	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr22:22277807G>A	ENST00000263212.5	-	8	1128	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	PPM1F_ENST00000407142.1_Silent_p.A173A|PPM1F_ENST00000538191.1_Silent_p.A237A	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	341					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AAGCTGCATCGGCCTCCCCAG	0.632																																						ENST00000407142.1		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(517-519)gcC>gcT		protein phosphatase, Mg2+/Mn2+ dependent, 1F							40.0	45.0	43.0					22																	22277807		2203	4300	6503	SO:0001819	synonymous_variant	9647				apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr22:22277807G>A	D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1023C>T	22.37:g.22277807G>A		False	False		Somatic	0				PPM1F_ENST00000538191.1_Silent_p.A237A|PPM1F_ENST00000263212.5_Silent_p.A341A	p.A173A			WXS	Illumina HiSeq	Phase_I	P49593	PPM1F_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	6	1579	-	Colorectal(54;0.105)		341					A8K6G3|B7Z2C3|Q96PM2	Silent	SNP	ENST00000263212.5	37	c.519C>T	CCDS13796.1																																																																																				0.632	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320267.2	0	NM_014634		22:22277807
SCARF1	8578	broad.mit.edu	37	17	1538332	1538332	+	Missense_Mutation	SNP	C	C	T	rs147642060	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr17:1538332C>T	ENST00000263071.4	-	11	2262	c.2213G>A	c.(2212-2214)cGg>cAg	p.R738Q	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.R652Q	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	738	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCTTTTTCCGATTCAGGGC	0.632													C|||	6	0.00119808	0.0045	0.0	5008	,	,		16845	0.0		0.0	False		,,,				2504	0.0					ENST00000263071.4		NA																	0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2212-2214)cGg>cAg		scavenger receptor class F, member 1			GLN/ARG,,GLN/ARG	10,4396		0,10,2193	23.0	24.0	24.0		2213,,1955	2.5	0.9	17	dbSNP_134	24	1,8599		0,1,4299	yes	missense,utr-3,missense	SCARF1	NM_003693.2,NM_145350.1,NM_145352.2	43,,43	0,11,6492	TT,TC,CC		0.0116,0.227,0.0846	possibly-damaging,,possibly-damaging	738/831,,652/745	1538332	11,12995	2203	4300	6503	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538332C>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.2213G>A	17.37:g.1538332C>T	ENSP00000263071:p.Arg738Gln	False	False		Somatic	0				SCARF1_ENST00000348987.3_Missense_Mutation_p.R652Q|SCARF1_ENST00000571272.1_3'UTR	p.R738Q	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	WXS	Illumina HiSeq	Phase_I	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	2262	-			738			Gly-rich.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.2213G>A	CCDS11007.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	10.85	1.466182	0.26335	0.00227	1.16E-4	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.22539	1.95;2.62	4.89	2.46	0.29980	.	0.197318	0.25025	N	0.033728	T	0.17916	0.0430	M	0.63428	1.95	0.22918	N	0.998569	B;B	0.32781	0.384;0.145	B;B	0.26693	0.072;0.024	T	0.14227	-1.0480	10	0.26408	T	0.33	-6.2381	8.5352	0.33360	0.0:0.8531:0.0:0.1469	.	652;738	Q14162-2;Q14162	.;SREC_HUMAN	Q	738;652	ENSP00000263071:R738Q;ENSP00000323964:R652Q	ENSP00000263071:R738Q	R	-	2	0	SCARF1	1485082	0.995000	0.38212	0.865000	0.33974	0.372000	0.29890	0.814000	0.27239	0.257000	0.21650	0.550000	0.68814	CGG		0.632	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	0	NM_003693		17:1538332
HMCN1	83872	broad.mit.edu	37	1	186030997	186030997	+	Missense_Mutation	SNP	C	C	T	rs376132541	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:186030997C>T	ENST00000271588.4	+	47	7556	c.7327C>T	c.(7327-7329)Cgg>Tgg	p.R2443W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R2443W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2443	Ig-like C2-type 22.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGGATGCTACGGCTGATGCA	0.398													C|||	2	0.000399361	0.0	0.0	5008	,	,		16462	0.0		0.0	False		,,,				2504	0.002					ENST00000271588.4		NA																	0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(7327-7329)Cgg>Tgg		hemicentin 1		C	TRP/ARG	0,4406		0,0,2203	87.0	94.0	92.0		7327	4.4	0.3	1		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2443/5636	186030997	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186030997C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7327C>T	1.37:g.186030997C>T	ENSP00000271588:p.Arg2443Trp	False	False		Somatic	0				HMCN1_ENST00000367492.2_Missense_Mutation_p.R2443W	p.R2443W	NM_031935.2	NP_114141.2	WXS	Illumina HiSeq	Phase_I	Q96RW7	HMCN1_HUMAN			47	7556	+			2443			Ig-like C2-type 22.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.7327C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274075	0.80580	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.36520	1.25;1.25	5.39	4.42	0.53409	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53906	-0.8372	10	0.37606	T	0.19	.	14.5328	0.67939	0.1471:0.8529:0.0:0.0	.	2443	Q96RW7	HMCN1_HUMAN	W	2443	ENSP00000271588:R2443W;ENSP00000356462:R2443W	ENSP00000271588:R2443W	R	+	1	2	HMCN1	184297620	1.000000	0.71417	0.330000	0.25442	0.846000	0.48090	4.567000	0.60850	2.528000	0.85240	0.591000	0.81541	CGG		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	NM_031935		1:186030997
WNT3A	89780	broad.mit.edu	37	1	228246856	228246856	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:228246856G>A	ENST00000284523.1	+	4	827	c.749G>A	c.(748-750)cGc>cAc	p.R250H	WNT3A_ENST00000366753.2_Missense_Mutation_p.R250H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	250					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CGGGAGTCCCGCGGCTGGGTG	0.657																																						ENST00000284523.1		NA																	0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(748-750)cGc>cAc		wingless-type MMTV integration site family, member 3A							47.0	51.0	50.0					1																	228246856		2203	4300	6503	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228246856G>A	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.749G>A	1.37:g.228246856G>A	ENSP00000284523:p.Arg250His	True	False		Somatic	0				WNT3A_ENST00000366753.2_Missense_Mutation_p.R250H	p.R250H	NM_033131.3	NP_149122.1	WXS	Illumina HiSeq	Phase_I	P56704	WNT3A_HUMAN			4	827	+		Prostate(94;0.0405)	250					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.749G>A	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	G	34	5.345122	0.95807	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.76448	-1.02;-1.02	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.85283	0.5661	L	0.51914	1.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.987;0.993	D	0.86836	0.2014	10	0.66056	D	0.02	.	17.9461	0.89039	0.0:0.0:1.0:0.0	.	250;250	P56704;Q3SY79	WNT3A_HUMAN;.	H	250	ENSP00000284523:R250H;ENSP00000355715:R250H	ENSP00000284523:R250H	R	+	2	0	WNT3A	226313479	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.733000	0.98818	2.300000	0.77407	0.491000	0.48974	CGC		0.657	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	0	NM_033131		1:228246856
WBSCR17	64409	broad.mit.edu	37	7	71142270	71142270	+	Silent	SNP	G	G	A	rs145007893		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:71142270G>A	ENST00000333538.5	+	9	2113	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	493	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TATTGTATCCGTGCCATGGCT	0.537																																						ENST00000333538.5		NA																	0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1477-1479)ccG>ccA		Williams-Beuren syndrome chromosome region 17		G		1,4405	2.1+/-5.4	0,1,2202	181.0	180.0	180.0		1479	-7.2	0.8	7	dbSNP_134	180	0,8600		0,0,4300	no	coding-synonymous	WBSCR17	NM_022479.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		493/599	71142270	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71142270G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1479G>A	7.37:g.71142270G>A		False	False		Somatic	0				WBSCR17_ENST00000498380.2_3'UTR	p.P493P	NM_022479.1	NP_071924.1	WXS	Illumina HiSeq	Phase_I	Q6IS24	GLTL3_HUMAN			9	2113	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	493			Ricin B-type lectin.		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.1479G>A	CCDS5540.1																																																																																				0.537	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	0	NM_022479		7:71142270
IFNGR1	3459	broad.mit.edu	37	6	137524778	137524778	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:137524778C>A	ENST00000367739.4	-	5	712	c.591G>T	c.(589-591)gaG>gaT	p.E197D	IFNGR1_ENST00000543628.1_Missense_Mutation_p.E169D|IFNGR1_ENST00000478333.1_5'Flank|IFNGR1_ENST00000367735.2_3'UTR	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	197					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GGCACTGAATCTCGTCACAAT	0.378																																						ENST00000367739.4		NA																	0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(589-591)gaG>gaT		interferon gamma receptor 1	Interferon gamma-1b(DB00033)						109.0	93.0	98.0					6																	137524778		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137524778C>A		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.591G>T	6.37:g.137524778C>A	ENSP00000356713:p.Glu197Asp	False	False		Somatic	0				IFNGR1_ENST00000543628.1_Missense_Mutation_p.E169D|IFNGR1_ENST00000367735.2_3'UTR	p.E197D	NM_000416.2	NP_000407.1	WXS	Illumina HiSeq	Phase_I	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	5	712	-	Colorectal(23;0.24)		197					B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.591G>T	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866633	0.32977	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076	T;T;T	0.45276	0.9;0.9;0.9	5.34	-3.11	0.05299	Interferon gamma receptor, poxvirus/mammal (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.212273	0.23342	N	0.049224	T	0.13628	0.0330	M	0.71581	2.175	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.14578	0.007;0.011	T	0.18713	-1.0328	10	0.30078	T	0.28	-11.59	2.1319	0.03752	0.1234:0.2775:0.3634:0.2358	.	169;197	F5H5M7;P15260	.;INGR1_HUMAN	D	197;197;169;163	ENSP00000356713:E197D;ENSP00000443282:E169D;ENSP00000389249:E163D	ENSP00000356713:E197D	E	-	3	2	IFNGR1	137566471	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.316000	0.02710	-0.289000	0.09038	-0.305000	0.09177	GAG		0.378	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1	0			6:137524778
CHAMP1	283489	broad.mit.edu	37	13	115091201	115091201	+	Silent	SNP	C	C	T	rs375402608		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:115091201C>T	ENST00000361283.1	+	3	2193	c.1884C>T	c.(1882-1884)gaC>gaT	p.D628D		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	628	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AGAGCTCAGACGCTGAGCTTA	0.408																																						ENST00000361283.1		NA																	0					NA						c.(1882-1884)gaC>gaT		chromosome alignment maintaining phosphoprotein 1		C	,,	0,4406		0,0,2203	82.0	91.0	88.0		1884,1884,1884	1.6	1.0	13		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF828	NM_001164144.1,NM_001164145.1,NM_032436.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	628/813,628/813,628/813	115091201	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115091201C>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1884C>T	13.37:g.115091201C>T		False	False		Somatic	0					p.D628D	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	WXS	Illumina HiSeq	Phase_I	Q96JM3	ZN828_HUMAN			3	2193	+			628			Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.		B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.1884C>T	CCDS9545.1																																																																																				0.408	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	0	NM_032436		13:115091201
ZNF562	54811	broad.mit.edu	37	19	9764114	9764114	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:9764114G>T	ENST00000448622.1	-	6	954	c.792C>A	c.(790-792)aaC>aaA	p.N264K	ZNF562_ENST00000541032.1_Missense_Mutation_p.N227K|ZNF562_ENST00000293648.4_Missense_Mutation_p.N192K|ZNF562_ENST00000453792.2_Missense_Mutation_p.N195K|ZNF562_ENST00000537617.1_Missense_Mutation_p.N148K|ZNF562_ENST00000590155.1_Missense_Mutation_p.N263K|ZNF562_ENST00000453372.2_Missense_Mutation_p.N264K	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTTCCCACAGTTCTTAGTCT	0.378																																						ENST00000448622.1		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(790-792)aaC>aaA		zinc finger protein 562							84.0	82.0	83.0					19																	9764114		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9764114G>T	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.792C>A	19.37:g.9764114G>T	ENSP00000411784:p.Asn264Lys	False	False		Somatic	0				ZNF562_ENST00000453792.2_Missense_Mutation_p.N195K|ZNF562_ENST00000537617.1_Missense_Mutation_p.N148K|ZNF562_ENST00000453372.2_Missense_Mutation_p.N264K|ZNF562_ENST00000541032.1_Missense_Mutation_p.N227K|ZNF562_ENST00000590155.1_Missense_Mutation_p.N263K|ZNF562_ENST00000293648.4_Missense_Mutation_p.N192K	p.N264K	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	WXS	Illumina HiSeq	Phase_I	Q6V9R5	ZN562_HUMAN			6	954	-			264					Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.792C>A	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	G	0.658	-0.806919	0.02819	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.06768	3.28;3.28;3.35;3.26;3.36;3.38	1.67	-3.33	0.04958	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.02412	-0.56	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0	T	0.39643	-0.9604	9	0.54805	T	0.06	.	1.739	0.02948	0.1587:0.1235:0.163:0.5548	.	148;263;227;264;192	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	K	264;264;192;227;195;148	ENSP00000410734:N264K;ENSP00000411784:N264K;ENSP00000293648:N192K;ENSP00000442614:N227K;ENSP00000440451:N195K;ENSP00000445816:N148K	ENSP00000293648:N192K	N	-	3	2	ZNF562	9625114	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.367000	0.00069	-1.457000	0.01919	-3.756000	0.00021	AAC		0.378	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	0	NM_017656		19:9764114
TRPM6	140803	broad.mit.edu	37	9	77376995	77376995	+	Missense_Mutation	SNP	C	C	T	rs199963114		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr9:77376995C>T	ENST00000360774.1	-	26	4829	c.4592G>A	c.(4591-4593)cGc>cAc	p.R1531H	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526H|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526H|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1531H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1531					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTGTATCTGCGGAGAGGATT	0.418																																						ENST00000451710.3		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(4591-4593)cGc>cAc		transient receptor potential cation channel, subfamily M, member 6							93.0	92.0	92.0					9																	77376995		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77376995C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4592G>A	9.37:g.77376995C>T	ENSP00000354006:p.Arg1531His	False	False		Somatic	0				TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526H|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531H|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1531H	p.R1531H			WXS	Illumina HiSeq	Phase_I	Q9BX84	TRPM6_HUMAN			26	4829	-			1531					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4592G>A	CCDS6647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.535|1.535	-0.543353|-0.543353	0.04053|0.04053	.|.	.|.	ENSG00000119121|ENSG00000119121	ENST00000448641|ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449	.|T;T;T;T;T	.|0.54279	.|0.68;0.68;0.68;0.68;0.58	5.33|5.33	-5.55|-5.55	0.02536|0.02536	.|.	.|1.118960	.|0.06509	.|N	.|0.737619	.|T	.|0.28599	.|0.0708	N|N	0.05383|0.05383	-0.06|-0.06	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.10296	.|0.002;0.003;0.003	.|B;B;B	.|0.06405	.|0.001;0.002;0.002	.|T	.|0.27226	.|-1.0080	.|10	.|0.54805	.|T	.|0.06	.|.	7.9227|7.9227	0.29857|0.29857	0.1046:0.3691:0.0:0.5263|0.1046:0.3691:0.0:0.5263	.|.	.|1531;1526;1526	.|Q9BX84;Q9BX84-3;Q9BX84-2	.|TRPM6_HUMAN;.;.	.|H	-1|1531;1531;1526;1526;1531;1104	.|ENSP00000354006:R1531H;ENSP00000407341:R1531H;ENSP00000396672:R1526H;ENSP00000354962:R1526H;ENSP00000366060:R1531H	.|ENSP00000309693:R1104H	.|R	-|-	.|2	.|0	TRPM6|TRPM6	76566815|76566815	0.085000|0.085000	0.21516|0.21516	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.050000|-0.050000	0.11904|0.11904	-1.668000|-1.668000	0.01471|0.01471	-0.290000|-0.290000	0.09829|0.09829	.|CGC		0.418	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	0	NM_017662		9:77376995
MISP	126353	broad.mit.edu	37	19	758042	758042	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:758042C>T	ENST00000215582.6	+	2	1199	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	366					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GGAAGACCACCGGCGGGAGGG	0.682																																						ENST00000215582.6		NA																	0					NA						c.(1096-1098)Cgg>Tgg		mitotic spindle positioning							12.0	15.0	14.0					19																	758042		2188	4290	6478	SO:0001583	missense	126353							g.chr19:758042C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1096C>T	19.37:g.758042C>T	ENSP00000215582:p.Arg366Trp	False	False		Somatic	0					p.R366W	NM_173481.2	NP_775752.1	WXS	Illumina HiSeq	Phase_I					2	1199	+			NA						Missense_Mutation	SNP	ENST00000215582.6	37	c.1096C>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944631	0.73672	.	.	ENSG00000099812	ENST00000215582	T	0.41065	1.01	4.54	3.51	0.40186	.	0.300521	0.25692	N	0.028922	T	0.46560	0.1399	M	0.64997	1.995	0.35749	D	0.819325	D	0.55172	0.97	P	0.50970	0.655	T	0.59241	-0.7491	10	0.87932	D	0	-13.4379	7.0902	0.25279	0.1687:0.7392:0.0:0.0921	.	366	Q8IVT2	CS021_HUMAN	W	366	ENSP00000215582:R366W	ENSP00000215582:R366W	R	+	1	2	C19orf21	709042	0.001000	0.12720	0.685000	0.30070	0.914000	0.54420	0.072000	0.14617	1.038000	0.40049	0.491000	0.48974	CGG		0.682	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	0	NM_173481		19:758042
RGMA	56963	broad.mit.edu	37	15	93588701	93588701	+	Missense_Mutation	SNP	C	C	T	rs201119116	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:93588701C>T	ENST00000329082.7	-	4	1151	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	RGMA_ENST00000542321.2_Missense_Mutation_p.V278I|RGMA_ENST00000556658.1_Missense_Mutation_p.V185I|RGMA_ENST00000543599.1_Missense_Mutation_p.V278I|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000557301.1_Missense_Mutation_p.V302I|RGMA_ENST00000538818.1_Missense_Mutation_p.V185I|RGMA_ENST00000425933.2_Missense_Mutation_p.V278I	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	294					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GGCATGCGGACGGCAAAGGTC	0.622													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19417	0.0		0.001	False		,,,				2504	0.0					ENST00000329082.7		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9						c.(880-882)Gtc>Atc		repulsive guidance molecule family member a							31.0	37.0	35.0					15																	93588701		2131	4229	6360	SO:0001583	missense	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93588701C>T	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.880G>A	15.37:g.93588701C>T	ENSP00000330005:p.Val294Ile	False	False		Somatic	0				RGMA_ENST00000542321.2_Missense_Mutation_p.V278I|RGMA_ENST00000557301.1_Missense_Mutation_p.V302I|RGMA_ENST00000556658.1_Missense_Mutation_p.V185I|RGMA_ENST00000425933.2_Missense_Mutation_p.V278I|RGMA_ENST00000543599.1_Missense_Mutation_p.V278I|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000538818.1_Missense_Mutation_p.V185I	p.V294I	NM_020211.2	NP_064596	WXS	Illumina HiSeq	Phase_I	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		4	1151	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		294					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	ENST00000329082.7	37	c.880G>A	CCDS45357.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	5.222	0.226549	0.09916	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	4.76	3.81	0.43845	Repulsive guidance molecule, C-terminal (1);	0.058854	0.64402	N	0.000002	T	0.71417	0.3337	N	0.25825	0.765	0.80722	D	1	B;B	0.18741	0.024;0.03	B;B	0.15052	0.012;0.012	T	0.61491	-0.7052	10	0.02654	T	1	-9.2223	10.6561	0.45675	0.0:0.8974:0.0:0.1026	.	302;294	G3V518;Q96B86	.;RGMA_HUMAN	I	278;278;294;278;185;302	ENSP00000442498:V278I;ENSP00000404442:V278I;ENSP00000330005:V294I;ENSP00000440025:V278I;ENSP00000442546:V185I;ENSP00000452126:V302I	ENSP00000330005:V294I	V	-	1	0	RGMA	91389705	0.999000	0.42202	0.400000	0.26346	0.678000	0.39670	4.046000	0.57376	0.880000	0.35969	0.491000	0.48974	GTC		0.622	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	0	NM_020211		15:93588701
KIAA1468	57614	broad.mit.edu	37	18	59912054	59912054	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:59912054G>A	ENST00000398130.2	+	11	1910	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	KIAA1468_ENST00000256858.6_Missense_Mutation_p.D560N|RP11-173A16.2_ENST00000588561.1_RNA	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	560										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TAAAGAGCGAGATCAGCTTCT	0.378																																						ENST00000256858.6		NA																	0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1678-1680)Gat>Aat		KIAA1468							112.0	106.0	108.0					18																	59912054		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59912054G>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1678G>A	18.37:g.59912054G>A	ENSP00000381198:p.Asp560Asn	False	False		Somatic	0				KIAA1468_ENST00000398130.2_Missense_Mutation_p.D560N	p.D560N			WXS	Illumina HiSeq	Phase_I	Q9P260	K1468_HUMAN			11	1926	+		Colorectal(73;0.186)	560						Missense_Mutation	SNP	ENST00000398130.2	37	c.1678G>A	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	34	5.334181	0.95758	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.39787	1.06;1.06	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	L	0.60845	1.875	0.80722	D	1	D;D;D	0.89917	0.994;0.98;1.0	P;P;D	0.83275	0.895;0.753;0.996	T	0.57969	-0.7719	9	.	.	.	-19.5571	20.0051	0.97433	0.0:0.0:1.0:0.0	.	560;560;204	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	N	560	ENSP00000381198:D560N;ENSP00000256858:D560N	.	D	+	1	0	KIAA1468	58063034	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.715000	0.98748	2.799000	0.96334	0.650000	0.86243	GAT		0.378	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	0	NM_020854		18:59912054
NUF2	83540	broad.mit.edu	37	1	163317716	163317716	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:163317716G>A	ENST00000271452.3	+	12	1391	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	NUF2_ENST00000524800.1_Missense_Mutation_p.R324H|NUF2_ENST00000367900.3_Missense_Mutation_p.R371H	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	371	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.R371H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CAATACAAACGCACAGTAATT	0.318																																						ENST00000271452.3		NA																	1	Substitution - Missense(1)	p.R371H(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1111-1113)cGc>cAc		NUF2, NDC80 kinetochore complex component							69.0	66.0	67.0					1																	163317716		2203	4300	6503	SO:0001583	missense	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163317716G>A	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1112G>A	1.37:g.163317716G>A	ENSP00000271452:p.Arg371His	False	False		Somatic	0				NUF2_ENST00000524800.1_Missense_Mutation_p.R324H|NUF2_ENST00000367900.3_Missense_Mutation_p.R371H	p.R371H	NM_145697.2	NP_663735.2	WXS	Illumina HiSeq	Phase_I	Q9BZD4	NUF2_HUMAN			12	1391	+	all_hematologic(923;0.101)		371			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.1112G>A	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089136	0.36855	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.34859	1.45;1.34;1.34	6.03	4.13	0.48395	.	0.220012	0.49916	D	0.000130	T	0.07863	0.0197	N	0.16478	0.41	0.28144	N	0.929683	P;P	0.39352	0.669;0.669	B;B	0.27076	0.076;0.046	T	0.11372	-1.0590	9	0.44086	T	0.13	-6.6183	9.1986	0.37244	0.2248:0.0:0.7752:0.0	.	324;371	E9PQC4;Q9BZD4	.;NUF2_HUMAN	H	324;371;371	ENSP00000436888:R324H;ENSP00000356875:R371H;ENSP00000271452:R371H	ENSP00000271452:R371H	R	+	2	0	NUF2	161584340	0.995000	0.38212	0.857000	0.33713	0.990000	0.78478	1.124000	0.31320	1.521000	0.48983	0.655000	0.94253	CGC		0.318	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	0	NM_145697		1:163317716
RP11-24M17.5	0	broad.mit.edu	37	15	76074441	76074441	+	RNA	SNP	A	A	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:76074441A>T	ENST00000395215.3	+	0	620																											CGAGCTGCAGAGAAGCGGTCC	0.557																																						ENST00000395215.3		NA																	0					NA																																														0							g.chr15:76074441A>T																													15.37:g.76074441A>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	620	+			NA						RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.651	-0.071454	0.07228	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.437	0.437	0.16555	.	.	.	.	.	T	0.15478	0.0373	.	.	.	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.38001	-0.9681	6	0.02654	T	1	.	3.7635	0.08613	0.6336:0.0:0.0:0.3664	.	193	B4DZE6	.	S	193	.	ENSP00000378641:R193S	R	+	3	2	AC019294.2	73861496	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.070000	0.14573	-0.824000	0.04295	-1.485000	0.00982	AGA		0.557	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1	0			15:76074441
LAMA4	3910	broad.mit.edu	37	6	112496518	112496518	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:112496518C>T	ENST00000230538.7	-	11	1751	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	LAMA4_ENST00000389463.4_Missense_Mutation_p.E445K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E445K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E445K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	452	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACCTACGTTCGTAAGCCTCA	0.483																																						ENST00000230538.7		NA																	0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1354-1356)Gaa>Aaa		laminin, alpha 4							139.0	124.0	129.0					6																	112496518		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112496518C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1354G>A	6.37:g.112496518C>T	ENSP00000230538:p.Glu452Lys	False	False		Somatic	0				LAMA4_ENST00000424408.2_Missense_Mutation_p.E445K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E445K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E445K	p.E452K	NM_001105206.2	NP_001098676.2	WXS	Illumina HiSeq	Phase_I	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	11	1751	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	452			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1354G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694350	0.48202	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.91	5.91	0.95273	Laminin I (1);	0.213635	0.48767	D	0.000165	T	0.12433	0.0302	L	0.47716	1.5	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.58391	0.838;0.749	T	0.10683	-1.0619	10	0.11182	T	0.66	.	18.0694	0.89400	0.0:1.0:0.0:0.0	.	452;445	Q16363;Q16363-2	LAMA4_HUMAN;.	K	452;445;445;445	ENSP00000230538:E452K;ENSP00000429488:E445K;ENSP00000374114:E445K;ENSP00000416470:E445K	ENSP00000230538:E452K	E	-	1	0	LAMA4	112603211	0.981000	0.34729	0.343000	0.25615	0.031000	0.12232	2.957000	0.49137	2.813000	0.96785	0.655000	0.94253	GAA		0.483	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	0	NM_001105206		6:112496518
DCLK3	85443	broad.mit.edu	37	3	36779648	36779648	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:36779648T>C	ENST00000416516.2	-	2	993	c.503A>G	c.(502-504)aAg>aGg	p.K168R		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	168						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CATTGGGCCCTTCCCCATATC	0.567																																						ENST00000416516.2		NA																	0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(502-504)aAg>aGg		doublecortin-like kinase 3							112.0	118.0	116.0					3																	36779648		1984	4153	6137	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779648T>C	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.503A>G	3.37:g.36779648T>C	ENSP00000394484:p.Lys168Arg	True	False		Somatic	0					p.K168R	NM_033403.1	NP_208382.1	WXS	Illumina HiSeq	Phase_I	Q9C098	DCLK3_HUMAN			2	993	-			168						Missense_Mutation	SNP	ENST00000416516.2	37	c.503A>G	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	T	5.009	0.187282	0.09547	.	.	ENSG00000163673	ENST00000416516	T	0.67171	-0.25	4.7	-2.05	0.07321	.	0.350599	0.17768	N	0.162674	T	0.34832	0.0911	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.23797	-1.0178	10	0.10377	T	0.69	.	6.1062	0.20075	0.2212:0.4608:0.0:0.318	.	168	Q9C098	DCLK3_HUMAN	R	168	ENSP00000394484:K168R	ENSP00000394484:K168R	K	-	2	0	DCLK3	36754652	0.000000	0.05858	0.001000	0.08648	0.834000	0.47266	-0.855000	0.04295	-0.571000	0.06014	0.533000	0.62120	AAG		0.567	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	0	XM_047355		3:36779648
TCF4	6925	broad.mit.edu	37	18	52899837	52899837	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:52899837C>T	ENST00000356073.4	-	17	2163	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	TCF4_ENST00000567880.1_Missense_Mutation_p.E458K|TCF4_ENST00000561992.1_Missense_Mutation_p.E388K|TCF4_ENST00000568673.1_Missense_Mutation_p.E494K|TCF4_ENST00000544241.2_Missense_Mutation_p.E447K|TCF4_ENST00000566286.1_Missense_Mutation_p.E515K|TCF4_ENST00000565018.2_Missense_Mutation_p.E518K|TCF4_ENST00000543082.1_Missense_Mutation_p.E476K|TCF4_ENST00000568740.1_Missense_Mutation_p.E493K|TCF4_ENST00000537578.1_Missense_Mutation_p.E494K|TCF4_ENST00000354452.3_Missense_Mutation_p.E518K|TCF4_ENST00000398339.1_Missense_Mutation_p.E620K|TCF4_ENST00000570177.2_Missense_Mutation_p.E388K|TCF4_ENST00000537856.3_Missense_Mutation_p.E388K|TCF4_ENST00000564999.1_Missense_Mutation_p.E518K|TCF4_ENST00000564403.2_Missense_Mutation_p.E524K|TCF4_ENST00000561831.3_Missense_Mutation_p.E358K|TCF4_ENST00000566279.1_Missense_Mutation_p.E458K|TCF4_ENST00000540999.1_Missense_Mutation_p.E494K|TCF4_ENST00000457482.3_Missense_Mutation_p.E358K|TCF4_ENST00000564228.1_Missense_Mutation_p.E447K|TCF4_ENST00000570287.2_Missense_Mutation_p.E358K	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	518					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|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)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCATCACCCTCGTCATCGGAT	0.468																																						ENST00000354452.3		NA																	0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1552-1554)Gag>Aag		transcription factor 4							129.0	110.0	117.0					18																	52899837		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52899837C>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1552G>A	18.37:g.52899837C>T	ENSP00000348374:p.Glu518Lys	False	False		Somatic	0				TCF4_ENST00000561992.1_Missense_Mutation_p.E388K|TCF4_ENST00000568740.1_Missense_Mutation_p.E493K|TCF4_ENST00000566286.1_Missense_Mutation_p.E515K|TCF4_ENST00000457482.3_Missense_Mutation_p.E358K|TCF4_ENST00000565018.2_Missense_Mutation_p.E518K|TCF4_ENST00000570177.2_Missense_Mutation_p.E388K|TCF4_ENST00000356073.4_Missense_Mutation_p.E518K|TCF4_ENST00000537578.1_Missense_Mutation_p.E494K|TCF4_ENST00000540999.1_Missense_Mutation_p.E494K|TCF4_ENST00000544241.2_Missense_Mutation_p.E447K|TCF4_ENST00000566279.1_Missense_Mutation_p.E458K|TCF4_ENST00000561831.3_Missense_Mutation_p.E358K|TCF4_ENST00000543082.1_Missense_Mutation_p.E476K|TCF4_ENST00000567880.1_Missense_Mutation_p.E458K|TCF4_ENST00000537856.3_Missense_Mutation_p.E388K|TCF4_ENST00000564228.1_Missense_Mutation_p.E447K|TCF4_ENST00000564403.2_Missense_Mutation_p.E524K|TCF4_ENST00000398339.1_Missense_Mutation_p.E620K|TCF4_ENST00000568673.1_Missense_Mutation_p.E494K|TCF4_ENST00000564999.1_Missense_Mutation_p.E518K|TCF4_ENST00000570287.2_Missense_Mutation_p.E358K	p.E518K	NM_001083962.1	NP_001077431.1	WXS	Illumina HiSeq	Phase_I	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	17	2163	-			518					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1552G>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745039	0.49151	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.18810	2.51;2.22;2.47;2.46;2.48;2.51;2.48;2.19;2.49	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	L	0.49640	1.575	0.80722	D	1	B;B;B;P;D;B;B;D;B	0.65815	0.038;0.172;0.065;0.919;0.992;0.038;0.038;0.995;0.371	B;B;B;B;P;B;B;D;B	0.68192	0.007;0.017;0.025;0.394;0.905;0.007;0.007;0.956;0.095	T	0.06826	-1.0805	10	0.02654	T	1	-15.4116	17.8399	0.88712	0.0:1.0:0.0:0.0	.	494;518;358;620;518;476;447;358;515	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	K	518;358;518;476;494;494;447;388;620	ENSP00000346440:E518K;ENSP00000409447:E358K;ENSP00000348374:E518K;ENSP00000439656:E476K;ENSP00000445202:E494K;ENSP00000440731:E494K;ENSP00000441562:E447K;ENSP00000439827:E388K;ENSP00000381382:E620K	ENSP00000346440:E518K	E	-	1	0	TCF4	51050835	0.998000	0.40836	0.998000	0.56505	0.952000	0.60782	3.845000	0.55880	2.510000	0.84645	0.467000	0.42956	GAG		0.468	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	0	NM_003199		18:52899837
PPP1R16B	26051	broad.mit.edu	37	20	37536753	37536753	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr20:37536753C>T	ENST00000299824.1	+	10	1300	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R329W	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	371					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCTGTGGCAGCGGAGTGCAGC	0.602																																						ENST00000299824.1		NA																	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1111-1113)Cgg>Tgg		protein phosphatase 1, regulatory subunit 16B							110.0	95.0	100.0					20																	37536753		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37536753C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1111C>T	20.37:g.37536753C>T	ENSP00000299824:p.Arg371Trp	False	False		Somatic	0				PPP1R16B_ENST00000373331.2_Missense_Mutation_p.R329W	p.R371W	NM_015568.2	NP_056383.1	WXS	Illumina HiSeq	Phase_I	Q96T49	PP16B_HUMAN			10	1300	+		Myeloproliferative disorder(115;0.00878)	371					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1111C>T	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814832	0.70912	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.71103	-0.41;-0.54	5.26	3.2	0.36748	.	0.204892	0.41938	D	0.000796	T	0.66317	0.2777	L	0.36672	1.1	0.27630	N	0.948065	D;D	0.71674	0.998;0.995	P;P	0.51657	0.613;0.676	T	0.61247	-0.7101	10	0.72032	D	0.01	.	8.6451	0.34000	0.3461:0.5789:0.0:0.075	.	329;371	E9PFS8;Q96T49	.;PP16B_HUMAN	W	371;329	ENSP00000299824:R371W;ENSP00000362428:R329W	ENSP00000299824:R371W	R	+	1	2	PPP1R16B	36970167	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.866000	0.27954	1.476000	0.48215	0.644000	0.83932	CGG		0.602	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	0	NM_015568		20:37536753
LRRFIP1	9208	broad.mit.edu	37	2	238671269	238671269	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:238671269A>G	ENST00000392000.4	+	11	1030	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E	LRRFIP1_ENST00000244815.5_Missense_Mutation_p.K281E|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K249E	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	305					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGTGGAGGTGAAAAATGAAAT	0.433																																						ENST00000244815.5		NA																	0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(841-843)Aaa>Gaa		leucine rich repeat (in FLII) interacting protein 1							56.0	53.0	54.0					2																	238671269		2203	4300	6503	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238671269A>G	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.913A>G	2.37:g.238671269A>G	ENSP00000375857:p.Lys305Glu	True	False		Somatic	0				LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K249E|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.K305E	p.K281E	NM_004735.3	NP_004726.2	WXS	Illumina HiSeq	Phase_I	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	10	1081	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	305					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.841A>G	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.655875	0.67586	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.47528	0.84;0.84;0.84	5.69	0.0731	0.14389	.	0.837827	0.10426	N	0.676077	T	0.37785	0.1016	L	0.51422	1.61	0.21445	N	0.999689	B;B;B	0.27882	0.192;0.046;0.1	B;B;B	0.25759	0.063;0.046;0.027	T	0.29640	-1.0005	10	0.45353	T	0.12	-15.096	6.5329	0.22336	0.6466:0.1247:0.2287:0.0	.	249;305;281	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	E	249;281;305	ENSP00000289175:K249E;ENSP00000244815:K281E;ENSP00000375857:K305E	ENSP00000244815:K281E	K	+	1	0	LRRFIP1	238336008	0.972000	0.33761	0.276000	0.24689	0.948000	0.59901	0.407000	0.21049	0.095000	0.17434	0.528000	0.53228	AAA		0.433	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	0	NM_004735		2:238671269
ADCY1	107	broad.mit.edu	37	7	45699701	45699701	+	Silent	SNP	G	G	A	rs149589767		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:45699701G>A	ENST00000297323.7	+	7	1390	c.1368G>A	c.(1366-1368)ccG>ccA	p.P456P	ADCY1_ENST00000432715.1_Silent_p.P231P	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	456			P -> L (in dbSNP:rs12721473).		activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGTAGAACCGGGTTACGGAC	0.507																																						ENST00000297323.7		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1366-1368)ccG>ccA		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	A		1,4405	2.1+/-5.4	0,1,2202	169.0	151.0	157.0		1368	-11.0	0.0	7	dbSNP_134	157	0,8600		0,0,4300	no	coding-synonymous	ADCY1	NM_021116.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		456/1120	45699701	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45699701G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1368G>A	7.37:g.45699701G>A		True	False		Somatic	0				ADCY1_ENST00000432715.1_Silent_p.P231P	p.P456P	NM_021116.2	NP_066939.1	WXS	Illumina HiSeq	Phase_I	Q08828	ADCY1_HUMAN			7	1390	+			456		P -> L (in dbSNP:rs12721473).			A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.1368G>A	CCDS34631.1																																																																																				0.507	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	0	NM_021116		7:45699701
UVRAG	7405	broad.mit.edu	37	11	75851957	75851957	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:75851957G>A	ENST00000356136.3	+	15	1841	c.1600G>A	c.(1600-1602)Gtc>Atc	p.V534I	UVRAG_ENST00000528420.1_Missense_Mutation_p.V433I|UVRAG_ENST00000539288.1_Missense_Mutation_p.V162I|UVRAG_ENST00000532130.1_Missense_Mutation_p.V162I|UVRAG_ENST00000538870.1_Missense_Mutation_p.V90I|UVRAG_ENST00000533454.1_Missense_Mutation_p.V162I|UVRAG_ENST00000531818.1_Missense_Mutation_p.V162I	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	534					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TGTGACCACCGTCCCCTCCAT	0.493																																						ENST00000356136.3		NA																	0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(1600-1602)Gtc>Atc		UV radiation resistance associated							83.0	78.0	80.0					11																	75851957		2200	4292	6492	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75851957G>A	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1600G>A	11.37:g.75851957G>A	ENSP00000348455:p.Val534Ile	False	False		Somatic	0				UVRAG_ENST00000528420.1_Missense_Mutation_p.V433I|UVRAG_ENST00000531818.1_Missense_Mutation_p.V162I|UVRAG_ENST00000533454.1_Missense_Mutation_p.V162I|UVRAG_ENST00000539288.1_Missense_Mutation_p.V162I|UVRAG_ENST00000538870.1_Missense_Mutation_p.V90I|UVRAG_ENST00000532130.1_Missense_Mutation_p.V162I	p.V534I	NM_003369.3	NP_003360.2	WXS	Illumina HiSeq	Phase_I	Q9P2Y5	UVRAG_HUMAN			15	1841	+			534					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1600G>A	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	0.634	-0.816014	0.02776	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.44881	0.91	5.3	-10.6	0.00265	.	1.580430	0.03003	N	0.148498	T	0.18299	0.0439	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.22382	-1.0218	10	0.12766	T	0.61	1.0426	15.3224	0.74132	0.2482:0.0:0.6594:0.0925	.	90;534	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	I	534;433;162;162;162;162;90	ENSP00000348455:V534I	ENSP00000348455:V534I	V	+	1	0	UVRAG	75529605	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.434000	0.06939	-2.212000	0.00736	-0.768000	0.03414	GTC		0.493	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	0	NM_003369		11:75851957
CDC42BPA	8476	broad.mit.edu	37	1	227223274	227223274	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:227223274G>A	ENST00000366769.3	-	24	4420	c.3129C>T	c.(3127-3129)aaC>aaT	p.N1043N	CDC42BPA_ENST00000334218.5_Silent_p.N1043N|CDC42BPA_ENST00000366766.2_Silent_p.N1078N|CDC42BPA_ENST00000366765.3_Silent_p.N1056N|CDC42BPA_ENST00000366767.3_Silent_p.N962N|CDC42BPA_ENST00000366764.2_Silent_p.N1015N|CDC42BPA_ENST00000535525.1_Silent_p.N1023N	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTGGAGCTTTGTTTACACAAG	0.373																																						ENST00000366769.3		NA																	0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(3127-3129)aaC>aaT		CDC42 binding protein kinase alpha (DMPK-like)							95.0	95.0	95.0					1																	227223274		2203	4300	6503	SO:0001819	synonymous_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227223274G>A	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3129C>T	1.37:g.227223274G>A		True	False		Somatic	0				CDC42BPA_ENST00000366765.3_Silent_p.N1056N|CDC42BPA_ENST00000366767.3_Silent_p.N962N|CDC42BPA_ENST00000366764.2_Silent_p.N1015N|CDC42BPA_ENST00000366766.2_Silent_p.N1078N|CDC42BPA_ENST00000535525.1_Silent_p.N1023N|CDC42BPA_ENST00000334218.5_Silent_p.N1043N	p.N1043N	NM_003607.3	NP_003598.2	WXS	Illumina HiSeq	Phase_I	Q5VT25	MRCKA_HUMAN			24	4420	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1056						Silent	SNP	ENST00000366769.3	37	c.3129C>T	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	9.760	1.169942	0.21621	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000441725	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.051	0.97627	0.0:0.0:1.0:0.0	.	.	.	.	X	246;372;268	.	.	Q	-	1	0	CDC42BPA	225289897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.833000	0.48159	2.740000	0.93945	0.650000	0.86243	CAA		0.373	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	0	NM_014826		1:227223274
RNF17	56163	broad.mit.edu	37	13	25444786	25444786	+	Silent	SNP	C	C	T	rs200797570		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:25444786C>T	ENST00000255324.5	+	32	4408	c.4356C>T	c.(4354-4356)agC>agT	p.S1452S	RNF17_ENST00000381921.1_Silent_p.S1410S|RNF17_ENST00000339524.3_Silent_p.S462S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1452					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTGGAGTCAGCGGGGAATCAG	0.438																																						ENST00000255324.5		NA																	0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(4354-4356)agC>agT		ring finger protein 17							117.0	109.0	111.0					13																	25444786		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25444786C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4356C>T	13.37:g.25444786C>T		True	False		Somatic	0				RNF17_ENST00000339524.3_Silent_p.S462S|RNF17_ENST00000381921.1_Silent_p.S1410S	p.S1452S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	WXS	Illumina HiSeq	Phase_I	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	32	4408	+		Lung SC(185;0.0225)|Breast(139;0.077)	1452					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.4356C>T	CCDS9308.2																																																																																				0.438	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	0	NM_031994		13:25444786
ZIC2	7546	broad.mit.edu	37	13	100637726	100637726	+	Silent	SNP	G	G	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:100637726G>T	ENST00000376335.3	+	3	1682	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	463	Poly-Ala.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cggcggcggcggctgcggcgg	0.816																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3		NA																	0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1387-1389)gcG>gcT		Zic family member 2							2.0	3.0	3.0					13																	100637726		765	1850	2615	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637726G>T	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1389G>T	13.37:g.100637726G>T		True	False		Somatic	0				ZIC2_ENST00000477213.1_3'UTR	p.A463A	NM_007129.3	NP_009060.2	WXS	Illumina HiSeq	Phase_I	O95409	ZIC2_HUMAN			3	1682	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		463			Poly-Ala.		Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.1389G>T	CCDS9495.1																																																																																				0.816	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	0	NM_007129		13:100637726
EPHA7	2045	broad.mit.edu	37	6	93956606	93956606	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr6:93956606C>T	ENST00000369303.4	-	15	2814	c.2630G>A	c.(2629-2631)cGt>cAt	p.R877H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	877	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.R877L(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCTTTCAGCACGCTCCTTTTG	0.423																																						ENST00000369303.4		NA																	1	Substitution - Missense(1)	p.R877L(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2629-2631)cGt>cAt		EPH receptor A7							114.0	110.0	111.0					6																	93956606		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956606C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2630G>A	6.37:g.93956606C>T	ENSP00000358309:p.Arg877His	False	False		Somatic	0					p.R877H	NM_004440.3	NP_004431.1	WXS	Illumina HiSeq	Phase_I	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	15	2814	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	877			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2630G>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	35	5.526893	0.96431	.	.	ENSG00000135333	ENST00000369303	T	0.62364	0.03	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	N	0.20445	0.575	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.70716	0.97;0.942;0.966	T	0.69213	-0.5204	10	0.87932	D	0	.	19.9265	0.97104	0.0:1.0:0.0:0.0	.	873;872;877	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	H	877	ENSP00000358309:R877H	ENSP00000358309:R877H	R	-	2	0	EPHA7	94013327	1.000000	0.71417	0.870000	0.34147	0.995000	0.86356	7.726000	0.84824	2.723000	0.93209	0.591000	0.81541	CGT		0.423	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1	0			6:93956606
C9orf89	84270	broad.mit.edu	37	9	95869990	95869990	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr9:95869990G>A	ENST00000375464.2	+	2	170	c.42G>A	c.(40-42)acG>acA	p.T14T		NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	14	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TGCAGGACACGCCTTTCCTGA	0.562																																						ENST00000375464.2		NA																	0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						c.(40-42)acG>acA		chromosome 9 open reading frame 89							96.0	71.0	80.0					9																	95869990		2203	4300	6503	SO:0001819	synonymous_variant	84270				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding	g.chr9:95869990G>A	AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"""Bcl10-interacting protein with CARD"""					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.42G>A	9.37:g.95869990G>A		False	False		Somatic	0					p.T14T	NM_032310.3	NP_115686.3	WXS	Illumina HiSeq	Phase_I	Q96LW7	BINCA_HUMAN			2	170	+			14			CARD.		Q5BJH8|Q9BSY2	Silent	SNP	ENST00000375464.2	37	c.42G>A	CCDS6702.2																																																																																				0.562	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053128.1	0	NM_032310		9:95869990
LIPG	9388	broad.mit.edu	37	18	47110141	47110141	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:47110141G>A	ENST00000261292.4	+	8	1651	c.1373G>A	c.(1372-1374)cGg>cAg	p.R458Q	LIPG_ENST00000427224.2_Missense_Mutation_p.R384Q	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	458	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GAAACCCAGCGGAAGTAAGTG	0.562																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1372-1374)cGg>cAg		lipase, endothelial							26.0	24.0	25.0					18																	47110141		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47110141G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1373G>A	18.37:g.47110141G>A	ENSP00000261292:p.Arg458Gln	False	False		Somatic	0				LIPG_ENST00000427224.2_Missense_Mutation_p.R384Q	p.R458Q	NM_006033.2	NP_006024.1	WXS	Illumina HiSeq	Phase_I	Q9Y5X9	LIPE_HUMAN			8	1651	+			458			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.1373G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168290	0.38315	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	T;T	0.64438	-0.1;-0.1	5.6	-1.19	0.09585	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.314978	0.38381	N	0.001720	T	0.21509	0.0518	N	0.00885	-1.115	0.80722	D	1	B;B	0.20550	0.001;0.046	B;B	0.12837	0.001;0.008	T	0.11131	-1.0600	10	0.09084	T	0.74	-10.3611	7.2214	0.25990	0.6792:0.0:0.1813:0.1396	.	384;458	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	Q	458;384	ENSP00000261292:R458Q;ENSP00000387978:R384Q	ENSP00000261292:R458Q	R	+	2	0	LIPG	45364139	0.664000	0.27457	0.301000	0.25044	0.917000	0.54804	0.558000	0.23469	-0.126000	0.11682	0.561000	0.74099	CGG		0.562	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	0	NM_006033		18:47110141
NBPF10	100132406	broad.mit.edu	37	1	145324377	145324377	+	Missense_Mutation	SNP	C	C	A	rs77113202		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:145324377C>A	ENST00000342960.5	+	28	3607	c.3572C>A	c.(3571-3573)gCg>gAg	p.A1191E	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	778						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGTAGTAGCGCCTGAAGTC	0.483																																						ENST00000342960.5		NA																	0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3571-3573)gCg>gAg		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145324377C>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3572C>A	1.37:g.145324377C>A	ENSP00000345684:p.Ala1191Glu	False	False		Somatic	0				NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	p.A1191E	NM_001039703.4	NP_001034792.4	WXS	Illumina HiSeq	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	28	3607	+	all_hematologic(923;0.032)		1191					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3572C>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.756002	0.00085	.	.	ENSG00000163386	ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00144	0.0004	N	0.00162	-1.95	0.09310	N	1	.	.	.	.	.	.	T	0.40534	-0.9558	5	0.02654	T	1	.	.	.	.	.	.	.	.	E	1191	ENSP00000345684:A1191E	ENSP00000345684:A1191E	A	+	2	0	NBPF10	144035734	0.004000	0.15560	0.001000	0.08648	0.000000	0.00434	0.161000	0.16481	-1.406000	0.02045	0.000000	0.15137	GCG		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001039703		1:145324377
LZTS1	11178	broad.mit.edu	37	8	20107374	20107374	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr8:20107374G>A	ENST00000381569.1	-	4	2007	c.1650C>T	c.(1648-1650)taC>taT	p.Y550Y	LZTS1_ENST00000522290.1_Silent_p.Y491Y|LZTS1_ENST00000265801.6_Silent_p.Y550Y			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	550					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ACATGGCCACGTAGCTCTGCT	0.627																																						ENST00000381569.1		NA																	0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1648-1650)taC>taT		leucine zipper, putative tumor suppressor 1							117.0	117.0	117.0					8																	20107374		2203	4300	6503	SO:0001819	synonymous_variant	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107374G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1650C>T	8.37:g.20107374G>A		False	False		Somatic	0				LZTS1_ENST00000522290.1_Silent_p.Y491Y|LZTS1_ENST00000265801.6_Silent_p.Y550Y	p.Y550Y			WXS	Illumina HiSeq	Phase_I	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	2007	-			550					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	c.1650C>T	CCDS6015.1																																																																																				0.627	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	0	NM_021020		8:20107374
COL6A2	1292	broad.mit.edu	37	21	47545822	47545822	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr21:47545822C>T	ENST00000300527.4	+	26	2197	c.2093C>T	c.(2092-2094)gCg>gTg	p.A698V	COL6A2_ENST00000409416.1_Missense_Mutation_p.A698V|COL6A2_ENST00000357838.4_Missense_Mutation_p.A698V|COL6A2_ENST00000310645.5_Missense_Mutation_p.A698V|COL6A2_ENST00000397763.1_Missense_Mutation_p.A698V	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	698	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGTGGATTGCGGGCGGCACC	0.602																																						ENST00000300527.4		NA																	0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2092-2094)gCg>gTg		collagen, type VI, alpha 2							76.0	69.0	71.0					21																	47545822		2203	4300	6503	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545822C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2093C>T	21.37:g.47545822C>T	ENSP00000300527:p.Ala698Val	True	False		Somatic	0				COL6A2_ENST00000310645.5_Missense_Mutation_p.A698V|COL6A2_ENST00000409416.1_Missense_Mutation_p.A698V|COL6A2_ENST00000357838.4_Missense_Mutation_p.A698V|COL6A2_ENST00000397763.1_Missense_Mutation_p.A698V	p.A698V	NM_001849.3	NP_001840.3	WXS	Illumina HiSeq	Phase_I	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2197	+	Breast(49;0.245)		698			Nonhelical region.|VWFA 2.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2093C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559002	0.65538	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	4.21	4.21	0.49690	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.89107	0.3493	10	0.72032	D	0.01	-18.7532	16.5536	0.84479	0.0:1.0:0.0:0.0	.	698;698;698	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	V	698	ENSP00000300527:A698V;ENSP00000350497:A698V;ENSP00000312529:A698V;ENSP00000387115:A698V;ENSP00000380870:A698V	ENSP00000300527:A698V	A	+	2	0	COL6A2	46370250	1.000000	0.71417	0.030000	0.17652	0.733000	0.41908	7.562000	0.82300	1.889000	0.54706	0.491000	0.48974	GCG		0.602	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	0			21:47545822
SPATA2L	124044	broad.mit.edu	37	16	89764252	89764252	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:89764252C>T	ENST00000289805.5	-	3	833	c.765G>A	c.(763-765)gcG>gcA	p.A255A	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	255										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGCCAGCTCCGCCGGGGGCG	0.701																																						ENST00000289805.5		NA																	0				breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6						c.(763-765)gcG>gcA		spermatogenesis associated 2-like							10.0	11.0	11.0					16																	89764252		2191	4281	6472	SO:0001819	synonymous_variant	124044							g.chr16:89764252C>T	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.765G>A	16.37:g.89764252C>T		False	False		Somatic	0				SPATA2L_ENST00000335360.7_Intron	p.A255A	NM_152339.3	NP_689552.2	WXS	Illumina HiSeq	Phase_I	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	833	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	255					D3DX85|Q8NHV3	Silent	SNP	ENST00000289805.5	37	c.765G>A	CCDS10985.1																																																																																				0.701	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	0	NM_152339		16:89764252
FGD4	121512	broad.mit.edu	37	12	32754273	32754273	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:32754273A>G	ENST00000427716.2	+	6	1176	c.752A>G	c.(751-753)aAt>aGt	p.N251S	FGD4_ENST00000534526.2_Missense_Mutation_p.N388S|FGD4_ENST00000546442.1_Missense_Mutation_p.N158S|FGD4_ENST00000531134.1_Missense_Mutation_p.N336S|FGD4_ENST00000381025.3_Missense_Mutation_p.N3S|FGD4_ENST00000525053.1_Missense_Mutation_p.N363S|FGD4_ENST00000266482.3_Missense_Mutation_p.N3S	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	251	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GAGATGGTGAATAAAATCTTT	0.348																																						ENST00000427716.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(751-753)aAt>aGt		FYVE, RhoGEF and PH domain containing 4							74.0	85.0	81.0					12																	32754273		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32754273A>G	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.752A>G	12.37:g.32754273A>G	ENSP00000394487:p.Asn251Ser	False	False		Somatic	0				FGD4_ENST00000534526.2_Missense_Mutation_p.N388S|FGD4_ENST00000531134.1_Missense_Mutation_p.N336S|FGD4_ENST00000546442.1_Missense_Mutation_p.N158S|FGD4_ENST00000525053.1_Missense_Mutation_p.N363S|FGD4_ENST00000266482.3_Missense_Mutation_p.N3S|FGD4_ENST00000381025.3_Missense_Mutation_p.N3S	p.N251S	NM_139241.2	NP_640334.2	WXS	Illumina HiSeq	Phase_I	Q96M96	FGD4_HUMAN			6	1176	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		251			DH.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.752A>G	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794476	0.31777	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	4.86	4.86	0.63082	Dbl homology (DH) domain (5);	0.000000	0.53938	D	0.000056	T	0.64800	0.2631	L	0.31578	0.945	0.42950	D	0.99437	B;B;D;B	0.58970	0.236;0.071;0.984;0.288	B;B;P;B	0.57846	0.18;0.18;0.828;0.095	T	0.67534	-0.5646	10	0.49607	T	0.09	-25.0515	14.6203	0.68579	1.0:0.0:0.0:0.0	.	363;336;251;3	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	S	388;336;251;3;158;363;3	ENSP00000449273:N388S;ENSP00000431323:N336S;ENSP00000394487:N251S;ENSP00000266482:N3S;ENSP00000446695:N158S;ENSP00000433666:N363S;ENSP00000370413:N3S	ENSP00000266482:N3S	N	+	2	0	FGD4	32645540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.697000	0.68295	2.037000	0.60232	0.459000	0.35465	AAT		0.348	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	0	NM_139241		12:32754273
MBD4	8930	broad.mit.edu	37	3	129155916	129155916	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:129155916G>A	ENST00000249910.1	-	3	746	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000429544.2_Missense_Mutation_p.P191S|MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	191					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTACTTGGCGGCATAAACACA	0.443								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(571-573)Ccg>Tcg	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							145.0	153.0	151.0					3																	129155916		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129155916G>A	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.571C>T	3.37:g.129155916G>A	ENSP00000249910:p.Pro191Ser	False	False		Somatic	0				MBD4_ENST00000509587.1_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000249910.1_Missense_Mutation_p.P191S|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000507208.1_Missense_Mutation_p.P191S	p.P191S	NM_001276270.1	NP_001263199.1	WXS	Illumina HiSeq	Phase_I	O95243	MBD4_HUMAN			3	766	-			191					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.571C>T	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	G	5.883	0.347124	0.11126	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.92965	-2.93;-2.93;-3.14;-3.13	5.52	2.73	0.32206	.	1.116230	0.06686	N	0.768725	T	0.81422	0.4819	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.69785	-0.5051	10	0.56958	D	0.05	-0.0057	5.7883	0.18347	0.1473:0.0:0.5833:0.2694	.	191;191;191;191	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	S	191	ENSP00000394080:P191S;ENSP00000249910:P191S;ENSP00000424873:P191S;ENSP00000422327:P191S	ENSP00000249910:P191S	P	-	1	0	MBD4	130638606	0.004000	0.15560	0.005000	0.12908	0.003000	0.03518	0.522000	0.22909	0.289000	0.22422	-0.143000	0.13931	CCG		0.443	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	0	NM_003925		3:129155916
ATXN2L	11273	broad.mit.edu	37	16	28841228	28841228	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:28841228C>T	ENST00000336783.4	+	8	1050	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	ATXN2L_ENST00000570200.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R295C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R295C|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R295C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R295C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	295					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCGAGAGCTGCGTGCGGCCCA	0.577																																						ENST00000336783.4		NA																	0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(883-885)Cgt>Tgt		ataxin 2-like							68.0	66.0	67.0					16																	28841228		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28841228C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.883C>T	16.37:g.28841228C>T	ENSP00000338718:p.Arg295Cys	True	False		Somatic	0				ATXN2L_ENST00000395547.2_Missense_Mutation_p.R295C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R295C|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R295C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R295C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R295C	p.R295C	NM_007245.3	NP_009176.2	WXS	Illumina HiSeq	Phase_I	Q8WWM7	ATX2L_HUMAN			8	1050	+			295					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.883C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	28.0	4.882278	0.91740	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.51817	0.7;0.7;0.69;0.7;0.7	5.85	5.85	0.93711	LsmAD domain (1);	0.000000	0.64402	D	0.000001	T	0.67711	0.2922	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.997;0.998;0.998;0.998;0.997;0.997;0.998;0.997	T	0.69672	-0.5082	10	0.87932	D	0	-9.2431	14.4368	0.67287	0.148:0.8519:0.0:0.0	.	295;295;295;295;295;295;295;295	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	C	295	ENSP00000341459:R295C;ENSP00000378917:R295C;ENSP00000338718:R295C;ENSP00000372133:R295C;ENSP00000315650:R295C	ENSP00000315650:R295C	R	+	1	0	ATXN2L	28748729	0.953000	0.32496	1.000000	0.80357	0.950000	0.60333	2.191000	0.42640	2.779000	0.95612	0.491000	0.48974	CGT		0.577	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	0	NM_007245		16:28841228
DISP1	84976	broad.mit.edu	37	1	223175862	223175862	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:223175862G>A	ENST00000284476.6	+	8	1287	c.1123G>A	c.(1123-1125)Gtt>Att	p.V375I		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	375					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGAGCGAGACGTTTCTCATAC	0.527											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284476.6		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1123-1125)Gtt>Att		dispatched homolog 1 (Drosophila)							104.0	95.0	98.0					1																	223175862		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223175862G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1123G>A	1.37:g.223175862G>A	ENSP00000284476:p.Val375Ile	True	False		Somatic	0	OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2287		p.V375I	NM_032890.3	NP_116279.2	WXS	Illumina HiSeq	Phase_I	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1287	+			375					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1123G>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.730061	0.30684	.	.	ENSG00000154309	ENST00000284476	D	0.86164	-2.08	5.25	4.33	0.51752	.	0.114979	0.64402	D	0.000013	D	0.82765	0.5108	L	0.43598	1.365	0.58432	D	0.999992	P	0.43314	0.803	B	0.39935	0.314	T	0.81145	-0.1066	10	0.27785	T	0.31	-17.2678	16.1121	0.81271	0.0:0.1337:0.8663:0.0	.	375	Q96F81	DISP1_HUMAN	I	375	ENSP00000284476:V375I	ENSP00000284476:V375I	V	+	1	0	DISP1	221242485	1.000000	0.71417	0.522000	0.27862	0.672000	0.39443	5.135000	0.64777	1.433000	0.47394	0.655000	0.94253	GTT		0.527	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	0	NM_032890		1:223175862
PCDH8	5100	broad.mit.edu	37	13	53420319	53420319	+	Silent	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr13:53420319G>A	ENST00000377942.3	-	1	2456	c.2253C>T	c.(2251-2253)atC>atT	p.I751I	PCDH8_ENST00000338862.4_Silent_p.I751I	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	751					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGATGATGACGATCAGCGGCG	0.701																																					GBM(36;25 841 9273 49207)	ENST00000377942.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2251-2253)atC>atT		protocadherin 8							27.0	36.0	33.0					13																	53420319		2167	4239	6406	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420319G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2253C>T	13.37:g.53420319G>A		False	False		Somatic	0				PCDH8_ENST00000338862.4_Silent_p.I751I	p.I751I	NM_002590.3	NP_002581.2	WXS	Illumina HiSeq	Phase_I	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2456	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	751					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.2253C>T	CCDS9438.1																																																																																				0.701	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	0	NM_002590		13:53420319
WDR90	197335	broad.mit.edu	37	16	708985	708985	+	Silent	SNP	C	C	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:708985C>G	ENST00000293879.4	+	24	2985	c.2985C>G	c.(2983-2985)ctC>ctG	p.L995L	WDR90_ENST00000549091.1_Silent_p.L995L|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	995										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGTCTTCCTCTGGGATGTCC	0.642																																						ENST00000549091.1		NA																	0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(2983-2985)ctC>ctG		WD repeat domain 90							77.0	95.0	89.0					16																	708985		2110	4220	6330	SO:0001819	synonymous_variant	197335							g.chr16:708985C>G	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2985C>G	16.37:g.708985C>G		False	False		Somatic	0				WDR90_ENST00000293879.4_Silent_p.L995L	p.L995L	NM_145294.4	NP_660337.3	WXS	Illumina HiSeq	Phase_I	Q96KV7	WDR90_HUMAN			24	3077	+		Hepatocellular(780;0.0218)	995					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.2985C>G	CCDS42092.1																																																																																				0.642	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	0	NM_145294		16:708985
CIB2	10518	broad.mit.edu	37	15	78401612	78401612	+	Missense_Mutation	SNP	C	C	T	rs200697103		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr15:78401612C>T	ENST00000258930.3	-	4	639	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	CIB2_ENST00000560618.1_Missense_Mutation_p.R61Q|CIB2_ENST00000539011.1_Missense_Mutation_p.R61Q|CIB2_ENST00000557846.1_Missense_Mutation_p.R55Q	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	104	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.R104Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CTTGAGCTCTCGGGGAGCCGA	0.552																																						ENST00000258930.3		NA																	1	Substitution - Missense(1)	p.R104Q(1)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(310-312)cGa>cAa		calcium and integrin binding family member 2		C	GLN/ARG	0,4392		0,0,2196	95.0	83.0	87.0		311	4.5	1.0	15		87	3,8583	3.0+/-9.4	0,3,4290	yes	missense	CIB2	NM_006383.2	43	0,3,6486	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	104/188	78401612	3,12975	2196	4293	6489	SO:0001583	missense	10518						calcium ion binding	g.chr15:78401612C>T	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.311G>A	15.37:g.78401612C>T	ENSP00000258930:p.Arg104Gln	True	False		Somatic	0				CIB2_ENST00000539011.1_Missense_Mutation_p.R61Q|CIB2_ENST00000557846.1_Missense_Mutation_p.R55Q|CIB2_ENST00000560618.1_Missense_Mutation_p.R61Q	p.R104Q	NM_006383.2	NP_006374.1	WXS	Illumina HiSeq	Phase_I	O75838	CIB2_HUMAN			4	639	-			104			EF-hand 2.		B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	ENST00000258930.3	37	c.311G>A	CCDS10296.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114424	0.94339	0.0	3.49E-4	ENSG00000136425	ENST00000258930;ENST00000539011	T;T	0.67171	-0.25;2.96	4.46	4.46	0.54185	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	L	0.58669	1.825	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.64506	0.926;0.925	T	0.78607	-0.2138	10	0.48119	T	0.1	-16.4882	16.4633	0.84071	0.0:1.0:0.0:0.0	.	104;104	B4DDF0;O75838	.;CIB2_HUMAN	Q	104;61	ENSP00000258930:R104Q;ENSP00000442459:R61Q	ENSP00000258930:R104Q	R	-	2	0	CIB2	76188667	1.000000	0.71417	0.981000	0.43875	0.958000	0.62258	7.617000	0.83032	2.199000	0.70637	0.591000	0.81541	CGA		0.552	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	0	NM_006383		15:78401612
TMEM47	83604	broad.mit.edu	37	X	34657384	34657384	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chrX:34657384G>A	ENST00000275954.3	-	2	605	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	116						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AAGCATGACCGCAACAGGTCT	0.443																																						ENST00000275954.3		NA																	0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(346-348)gCg>gTg		transmembrane protein 47							65.0	53.0	57.0					X																	34657384		2201	4297	6498	SO:0001583	missense	83604					integral to membrane		g.chrX:34657384G>A	AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"""transmembrane 4 superfamily member 10"""	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.347C>T	X.37:g.34657384G>A	ENSP00000275954:p.Ala116Val	False	False		Somatic	0					p.A116V	NM_031442.3	NP_113630.1	WXS	Illumina HiSeq	Phase_I	Q9BQJ4	TMM47_HUMAN			2	605	-			116					Q5JR44	Missense_Mutation	SNP	ENST00000275954.3	37	c.347C>T	CCDS14235.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638349	0.87760	.	.	ENSG00000147027	ENST00000275954	T	0.69926	-0.44	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82625	-0.0365	10	0.66056	D	0.02	-7.661	17.3961	0.87445	0.0:0.0:1.0:0.0	.	116	Q9BQJ4	TMM47_HUMAN	V	116	ENSP00000275954:A116V	ENSP00000275954:A116V	A	-	2	0	TMEM47	34567305	1.000000	0.71417	0.997000	0.53966	0.862000	0.49288	9.476000	0.97823	2.321000	0.78463	0.538000	0.68166	GCG		0.443	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056209.1	0	NM_031442		X:34657384
LILRA1	11024	broad.mit.edu	37	19	55106342	55106342	+	Missense_Mutation	SNP	C	C	T	rs372024491	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:55106342C>T	ENST00000251372.3	+	4	465	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.R95W|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	95	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACACACAGGGCGGTATCGCTG	0.572													c|||	2	0.000399361	0.0	0.0	5008	,	,		19200	0.0		0.0	False		,,,				2504	0.002					ENST00000453777.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(283-285)Cgg>Tgg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1		C	TRP/ARG	0,4406		0,0,2203	121.0	115.0	117.0		283	-1.3	0.0	19		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	LILRA1	NM_006863.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	95/490	55106342	1,13005	2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106342C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.283C>T	19.37:g.55106342C>T	ENSP00000251372:p.Arg95Trp	True	False		Somatic	0				LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R95W|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR	p.R95W	NM_001278318.1	NP_001265247.1	WXS	Illumina HiSeq	Phase_I	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	453	+			95			Ig-like C2-type 1.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.283C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	8.318	0.823541	0.16678	0.0	1.16E-4	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.13778	2.56;2.56	1.58	-1.3	0.09259	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.639860	0.04121	N	0.316290	T	0.19604	0.0471	M	0.86740	2.835	0.09310	N	1	B;P	0.38440	0.097;0.631	B;B	0.32805	0.03;0.153	T	0.37842	-0.9688	10	0.72032	D	0.01	.	5.5529	0.17101	0.6042:0.3958:0.0:0.0	.	95;95	O75019-2;O75019	.;LIRA1_HUMAN	W	95	ENSP00000251372:R95W;ENSP00000413715:R95W	ENSP00000251372:R95W	R	+	1	2	LILRA1	59798154	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.728000	0.04925	-0.245000	0.09625	0.194000	0.17425	CGG		0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	0	NM_006863		19:55106342
HNRNPCL1	343069	broad.mit.edu	37	1	12908073	12908073	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:12908073T>C	ENST00000317869.6	-	2	295	c.70A>G	c.(70-72)Aac>Gac	p.N24D		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	24	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACAAGAGTGTTGAGATTCCCA	0.453																																						ENST00000317869.6		NA																	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(70-72)Aac>Gac		heterogeneous nuclear ribonucleoprotein C-like 1							191.0	177.0	182.0					1																	12908073		2203	4300	6503	SO:0001583	missense	343069							g.chr1:12908073T>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.70A>G	1.37:g.12908073T>C	ENSP00000365370:p.Asn24Asp	False	False		Somatic	0					p.N24D	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	WXS	Illumina HiSeq	Phase_I					2	295	-			NA					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.70A>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.650509	0.67472	.	.	ENSG00000179172	ENST00000317869	T	0.40225	1.04	1.09	-0.423	0.12325	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.179946	0.45361	U	0.000369	T	0.24005	0.0581	N	0.17474	0.49	0.42596	D	0.993268	B	0.31931	0.347	B	0.37989	0.262	T	0.03068	-1.1076	10	0.39692	T	0.17	.	4.9313	0.13919	0.0:0.0:0.3116:0.6884	.	24	O60812	HNRCL_HUMAN	D	24	ENSP00000365370:N24D	ENSP00000365370:N24D	N	-	1	0	HNRNPCL1	12830660	1.000000	0.71417	0.489000	0.27452	0.699000	0.40488	5.399000	0.66314	-0.107000	0.12088	0.341000	0.21757	AAC		0.453	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	0	NM_001013631		1:12908073
WDR89	112840	broad.mit.edu	37	14	64066609	64066609	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr14:64066609A>T	ENST00000394942.2	-	2	140	c.52T>A	c.(52-54)Tta>Ata	p.L18I	WDR89_ENST00000267522.3_Missense_Mutation_p.L18I|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	18										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TTGGTTCCTAAGGAACATTTA	0.368																																						ENST00000394942.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14						c.(52-54)Tta>Ata		WD repeat domain 89							68.0	69.0	69.0					14																	64066609		2203	4298	6501	SO:0001583	missense	112840							g.chr14:64066609A>T	AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"""WD repeat domain containing"""	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.52T>A	14.37:g.64066609A>T	ENSP00000378399:p.Leu18Ile	False	False		Somatic	0				WDR89_ENST00000267522.3_Missense_Mutation_p.L18I	p.L18I	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	WXS	Illumina HiSeq	Phase_I	Q96FK6	WDR89_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)	2	140	-			18						Missense_Mutation	SNP	ENST00000394942.2	37	c.52T>A	CCDS9759.1	.	.	.	.	.	.	.	.	.	.	A	3.553	-0.091356	0.07053	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	T;T;T	0.67171	-0.25;-0.25;0.96	5.93	3.42	0.39159	.	0.938409	0.09031	N	0.858708	T	0.47040	0.1424	N	0.14661	0.345	0.09310	N	0.999998	B	0.15473	0.013	B	0.09377	0.004	T	0.29579	-1.0007	10	0.20046	T	0.44	.	8.1435	0.31097	0.6475:0.2533:0.0:0.0992	.	18	Q96FK6	WDR89_HUMAN	I	18	ENSP00000378399:L18I;ENSP00000267522:L18I;ENSP00000451702:L18I	ENSP00000267522:L18I	L	-	1	2	WDR89	63136362	0.692000	0.27719	0.971000	0.41717	0.360000	0.29518	0.704000	0.25661	1.055000	0.40461	0.533000	0.62120	TTA		0.368	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	0	NM_080666		14:64066609
ZNF605	100289635	broad.mit.edu	37	12	133502024	133502024	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr12:133502024C>G	ENST00000360187.4	-	5	2209	c.1861G>C	c.(1861-1863)Gag>Cag	p.E621Q	ZNF605_ENST00000392321.3_Missense_Mutation_p.E652Q|ZNF605_ENST00000331711.7_5'Flank	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	621					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		GTCCCACACTCATTGCATCCA	0.383																																						ENST00000360187.4		NA																	0				breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1861-1863)Gag>Cag		zinc finger protein 605							120.0	115.0	116.0					12																	133502024		2203	4300	6503	SO:0001583	missense	100289635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:133502024C>G	AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"""Zinc fingers, C2H2-type"", ""-"""	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.1861G>C	12.37:g.133502024C>G	ENSP00000353314:p.Glu621Gln	False	False		Somatic	0				ZNF605_ENST00000392321.3_Missense_Mutation_p.E652Q	p.E621Q	NM_183238.3	NP_899061.1	WXS	Illumina HiSeq	Phase_I	Q86T29	ZN605_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)	5	2209	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)	621					B3KVG4|D3DXJ0|Q86T91	Missense_Mutation	SNP	ENST00000360187.4	37	c.1861G>C	CCDS31938.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835555	0.50951	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	T;T	0.52057	0.68;0.68	3.72	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35451	0.0932	L	0.32530	0.975	0.21984	N	0.999438	B;B	0.16166	0.003;0.016	B;B	0.12156	0.006;0.007	T	0.20571	-1.0271	9	0.22706	T	0.39	.	12.2303	0.54484	0.0:0.656:0.344:0.0	.	652;621	B3KVG4;Q86T29	.;ZN605_HUMAN	Q	621;652	ENSP00000353314:E621Q;ENSP00000376135:E652Q	ENSP00000353314:E621Q	E	-	1	0	ZNF605	132012097	0.000000	0.05858	0.005000	0.12908	0.937000	0.57800	0.278000	0.18753	0.325000	0.23359	0.462000	0.41574	GAG		0.383	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	0	NM_183238		12:133502024
SLC12A3	6559	broad.mit.edu	37	16	56904081	56904081	+	Silent	SNP	C	C	T	rs369387970		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr16:56904081C>T	ENST00000563236.1	+	5	700	c.675C>T	c.(673-675)ttC>ttT	p.F225F	SLC12A3_ENST00000566786.1_Silent_p.F224F|SLC12A3_ENST00000262502.5_Silent_p.F224F|SLC12A3_ENST00000438926.2_Silent_p.F225F			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	225					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTTTCGCTTTCGCCAATGCCG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.001					ENST00000438926.2		NA																	0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(673-675)ttC>ttT		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	C	,,	0,4396		0,0,2198	66.0	65.0	65.0		675,672,675	-10.8	0.0	16		65	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	,,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,,	225/1031,224/1030,225/1022	56904081	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56904081C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.675C>T	16.37:g.56904081C>T		True	False		Somatic	0				SLC12A3_ENST00000262502.5_Silent_p.F224F|SLC12A3_ENST00000566786.1_Silent_p.F224F|SLC12A3_ENST00000563236.1_Silent_p.F225F	p.F225F	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	WXS	Illumina HiSeq	Phase_I	P55017	S12A3_HUMAN			5	704	+			225					A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.675C>T	CCDS58464.1																																																																																				0.647	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1	0			16:56904081
HIVEP3	59269	broad.mit.edu	37	1	41976495	41976495	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:41976495C>T	ENST00000372583.1	-	9	7733	c.6848G>A	c.(6847-6849)gGa>gAa	p.G2283E	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2282E|HIVEP3_ENST00000372584.1_Missense_Mutation_p.G2282E|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2283E	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2283					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCCGGGCCTCCGCCGGTCCT	0.682																																						ENST00000372584.1		NA																	0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6844-6846)gGa>gAa		human immunodeficiency virus type I enhancer binding protein 3							19.0	23.0	22.0					1																	41976495		2201	4298	6499	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41976495C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6848G>A	1.37:g.41976495C>T	ENSP00000361664:p.Gly2283Glu	False	False		Somatic	0				HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2283E|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G2283E|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2282E	p.G2282E	NM_001127714.2	NP_001121186.1	WXS	Illumina HiSeq	Phase_I	Q5T1R4	ZEP3_HUMAN			8	7859	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2283					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6845G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	1.034	-0.680791	0.03353	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.04917	3.54;3.53;3.53;3.54	5.27	3.27	0.37495	.	0.615288	0.14475	N	0.317317	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46679	-0.9174	10	0.09843	T	0.71	-1.0496	4.9301	0.13912	0.0:0.6819:0.0:0.3181	.	2282;2283	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	E	2282;2283;2283;2282	ENSP00000361665:G2282E;ENSP00000361664:G2283E;ENSP00000247584:G2283E;ENSP00000410828:G2282E	ENSP00000247584:G2283E	G	-	2	0	HIVEP3	41749082	0.008000	0.16893	0.462000	0.27118	0.101000	0.19017	0.771000	0.26633	1.462000	0.47948	0.561000	0.74099	GGA		0.682	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	0	NM_024503		1:41976495
STAC	6769	broad.mit.edu	37	3	36547239	36547239	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:36547239G>A	ENST00000273183.3	+	8	1133	c.833G>A	c.(832-834)gGa>gAa	p.G278E	STAC_ENST00000457375.2_Splice_Site_p.G217E|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	278					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						ctctttcAGGGATCTCTTTCC	0.338																																						ENST00000273183.3		NA																	0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(832-834)gGa>gAa		SH3 and cysteine rich domain							41.0	43.0	42.0					3																	36547239		2203	4296	6499	SO:0001630	splice_region_variant	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36547239G>A	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.832-1G>A	3.37:g.36547239G>A		True	False		Somatic	0				STAC_ENST00000457375.2_Splice_Site_p.G217E|STAC_ENST00000476388.1_3'UTR	p.G278E	NM_003149.1	NP_003140.1	WXS	Illumina HiSeq	Phase_I	Q99469	STAC_HUMAN			8	1133	+			278					B2R8S8	Splice_Site	SNP	ENST00000273183.3	37	c.833G>A	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	8.374	0.835918	0.16820	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	T;T;T	0.75367	-0.93;1.09;1.57	5.21	-0.896	0.10557	Src homology-3 domain (1);	0.496999	0.22073	N	0.065008	T	0.48572	0.1507	N	0.24115	0.695	0.39959	D	0.974646	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.44081	-0.9351	10	0.02654	T	1	.	6.0123	0.19582	0.3402:0.1237:0.5361:0.0	.	217;278	E9PEA7;Q99469	.;STAC_HUMAN	E	278;217;210;206	ENSP00000273183:G278E;ENSP00000393713:G217E;ENSP00000398403:G206E	ENSP00000273183:G278E	G	+	2	0	STAC	36522243	0.996000	0.38824	0.975000	0.42487	0.667000	0.39255	0.231000	0.17872	-0.428000	0.07339	-0.145000	0.13849	GGA		0.338	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	0	NM_003149	Missense_Mutation	3:36547239
CKAP2L	150468	broad.mit.edu	37	2	113514074	113514074	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:113514074A>G	ENST00000302450.6	-	4	952	c.874T>C	c.(874-876)Tca>Cca	p.S292P	CKAP2L_ENST00000541405.1_Missense_Mutation_p.S127P|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	292						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGTTTCTTTGATGACTGAACT	0.403																																						ENST00000541405.1		NA																	0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(379-381)Tca>Cca		cytoskeleton associated protein 2-like							94.0	98.0	96.0					2																	113514074		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514074A>G	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.874T>C	2.37:g.113514074A>G	ENSP00000305204:p.Ser292Pro	False	False		Somatic	0				CKAP2L_ENST00000302450.6_Missense_Mutation_p.S292P	p.S127P			WXS	Illumina HiSeq	Phase_I	Q8IYA6	CKP2L_HUMAN			4	902	-			292					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.379T>C	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	A	5.274	0.235997	0.10023	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.18657	2.2;2.87	4.69	-2.55	0.06288	.	0.644272	0.13672	N	0.370817	T	0.10723	0.0262	L	0.33485	1.01	0.09310	N	1	B	0.14012	0.009	B	0.16722	0.016	T	0.27123	-1.0083	10	0.33141	T	0.24	-0.2642	0.2847	0.00249	0.3956:0.1484:0.1686:0.2874	.	292	Q8IYA6	CKP2L_HUMAN	P	127;292	ENSP00000438763:S127P;ENSP00000305204:S292P	ENSP00000305204:S292P	S	-	1	0	CKAP2L	113230545	0.527000	0.26306	0.001000	0.08648	0.091000	0.18340	0.044000	0.13992	-0.386000	0.07821	0.477000	0.44152	TCA		0.403	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	0	NM_152515		2:113514074
FAR1	84188	broad.mit.edu	37	11	13749183	13749183	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:13749183G>T	ENST00000354817.3	+	11	1482	c.1338G>T	c.(1336-1338)ttG>ttT	p.L446F	FAR1_ENST00000532502.1_Missense_Mutation_p.L70F	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	446					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						AGTACGTATTGAATGAAGAAA	0.373																																						ENST00000532502.1		NA																	0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(208-210)ttG>ttT		fatty acyl CoA reductase 1							122.0	122.0	122.0					11																	13749183		2200	4294	6494	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13749183G>T	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.1338G>T	11.37:g.13749183G>T	ENSP00000346874:p.Leu446Phe	True	False		Somatic	0				FAR1_ENST00000354817.3_Missense_Mutation_p.L446F	p.L70F			WXS	Illumina HiSeq	Phase_I	Q8WVX9	FACR1_HUMAN			2	2038	+			446					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.210G>T	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979207	0.53827	.	.	ENSG00000197601	ENST00000354817;ENST00000532502	T	0.28454	1.61	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	L	0.55834	1.745	0.51482	D	0.999929	D	0.89917	1.0	D	0.83275	0.996	T	0.23797	-1.0178	10	0.30078	T	0.28	-8.0128	16.1581	0.81680	0.0:0.1335:0.8665:0.0	.	446	Q8WVX9	FACR1_HUMAN	F	446;70	ENSP00000346874:L446F	ENSP00000346874:L446F	L	+	3	2	FAR1	13705759	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.970000	0.40520	2.783000	0.95769	0.655000	0.94253	TTG		0.373	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	0	NM_032228		11:13749183
ALS2CL	259173	broad.mit.edu	37	3	46728567	46728567	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:46728567C>T	ENST00000318962.4	-	5	523	c.440G>A	c.(439-441)gGc>gAc	p.G147D	ALS2CL_ENST00000415953.1_Missense_Mutation_p.G147D	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	147					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CAGCGATGCGCCCACCGAGCC	0.677																																						ENST00000318962.4		NA																	0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(439-441)gGc>gAc		ALS2 C-terminal like							37.0	37.0	37.0					3																	46728567		2200	4298	6498	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46728567C>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.440G>A	3.37:g.46728567C>T	ENSP00000313670:p.Gly147Asp	True	False		Somatic	0				ALS2CL_ENST00000415953.1_Missense_Mutation_p.G147D	p.G147D	NM_147129.3	NP_667340.2	WXS	Illumina HiSeq	Phase_I	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	5	523	-			147					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.440G>A	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	9.379	1.072447	0.20147	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.17528	2.27;2.27	4.18	2.22	0.28083	Dbl homology (DH) domain (1);	0.498524	0.18254	N	0.146852	T	0.10208	0.0250	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.18871	-1.0323	10	0.35671	T	0.21	.	3.9061	0.09183	0.0:0.5781:0.2013:0.2207	.	147	Q60I27	AL2CL_HUMAN	D	147	ENSP00000313670:G147D;ENSP00000413223:G147D	ENSP00000313670:G147D	G	-	2	0	ALS2CL	46703571	0.005000	0.15991	0.015000	0.15790	0.001000	0.01503	0.589000	0.23939	1.103000	0.41568	0.591000	0.81541	GGC		0.677	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	0	NM_147129		3:46728567
TBCCD1	55171	broad.mit.edu	37	3	186276243	186276243	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:186276243G>A	ENST00000424280.1	-	3	934	c.455C>T	c.(454-456)tCt>tTt	p.S152F	TBCCD1_ENST00000446782.1_Missense_Mutation_p.S56F|TBCCD1_ENST00000338733.5_Missense_Mutation_p.S152F	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	152					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CAGGTCAGGAGACTGAGATTT	0.403																																						ENST00000424280.1		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17						c.(454-456)tCt>tTt		TBCC domain containing 1							143.0	144.0	144.0					3																	186276243		2203	4300	6503	SO:0001583	missense	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186276243G>A	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.455C>T	3.37:g.186276243G>A	ENSP00000411253:p.Ser152Phe	False	False		Somatic	0				TBCCD1_ENST00000338733.5_Missense_Mutation_p.S152F|TBCCD1_ENST00000446782.1_Missense_Mutation_p.S56F	p.S152F	NM_001134415.1	NP_001127887.1	WXS	Illumina HiSeq	Phase_I	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	3	934	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		152					B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	c.455C>T	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933597	0.73442	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782;ENST00000413695;ENST00000430560	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;0.7	5.24	5.24	0.73138	.	0.207799	0.43747	D	0.000530	T	0.77579	0.4151	M	0.61703	1.905	0.43930	D	0.996586	P;P	0.50819	0.939;0.807	P;B	0.53490	0.727;0.401	T	0.75482	-0.3302	10	0.33940	T	0.23	-19.0802	10.1928	0.43037	0.0911:0.0:0.9089:0.0	.	56;152	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	F	152;152;56;152;136	ENSP00000411253:S152F;ENSP00000341652:S152F;ENSP00000397091:S56F;ENSP00000391109:S152F;ENSP00000407506:S136F	ENSP00000341652:S152F	S	-	2	0	TBCCD1	187758937	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.081000	0.76844	2.607000	0.88179	0.655000	0.94253	TCT		0.403	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	0	NM_018138		3:186276243
TEK	7010	broad.mit.edu	37	9	27158047	27158047	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr9:27158047G>T	ENST00000380036.4	+	2	713	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Nonsense_Mutation_p.E91*	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	91	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TTGGAAGAGAGAAAAGGCTAG	0.448																																						ENST00000380036.4		NA																	0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(271-273)Gaa>Taa		TEK tyrosine kinase, endothelial							119.0	115.0	116.0					9																	27158047		2203	4300	6503	SO:0001587	stop_gained	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27158047G>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.271G>T	9.37:g.27158047G>T	ENSP00000369375:p.Glu91*	True	False		Somatic	0				TEK_ENST00000406359.4_Nonsense_Mutation_p.E91*|TEK_ENST00000519097.1_Intron	p.E91*	NM_000459.3	NP_000450	WXS	Illumina HiSeq	Phase_I	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	2	713	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	91			Ig-like C2-type 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Nonsense_Mutation	SNP	ENST00000380036.4	37	c.271G>T	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	38	7.144543	0.98092	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	.	.	.	5.92	5.92	0.95590	.	0.000000	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	.	.	.	X	91	.	ENSP00000343716:E91X	E	+	1	0	TEK	27148047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.664000	0.74437	2.809000	0.96659	0.655000	0.94253	GAA		0.448	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3	0			9:27158047
IGHG1	3500	broad.mit.edu	37	14	106204162	106204162	+	RNA	SNP	C	C	T	rs587658982	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr14:106204162C>T	ENST00000390548.2	-	0	1136							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GGTCCACCACCGAGGAGAAGA	0.667													.|||	9	0.00179712	0.0015	0.0	5008	,	,		9645	0.0069		0.0	False		,,,				2504	0.0					ENST00000390548.2		NA																	0					NA															83.0	87.0	86.0					14																	106204162		860	1989	2849			0							g.chr14:106204162C>T	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106204162C>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1136	-			NA						RNA	SNP	ENST00000390548.2	37																																																																																						0.667	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	0	NG_001019		14:106204162
TBC1D10A	83874	broad.mit.edu	37	22	30722767	30722767	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr22:30722767G>A	ENST00000215790.7	-	1	268	c.104C>T	c.(103-105)aCc>aTc	p.T35I	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.T35I|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	35					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GAGTTCGTCGGTGGTTGCGGC	0.711																																						ENST00000215790.7		NA																	0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(103-105)aCc>aTc		TBC1 domain family, member 10A							24.0	30.0	28.0					22																	30722767		2200	4292	6492	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30722767G>A	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.104C>T	22.37:g.30722767G>A	ENSP00000215790:p.Thr35Ile	False	False		Somatic	0				TBC1D10A_ENST00000403477.3_Missense_Mutation_p.T35I|TBC1D10A_ENST00000490449.1_5'UTR	p.T35I	NM_031937.2	NP_114143.1	WXS	Illumina HiSeq	Phase_I	Q9BXI6	TB10A_HUMAN			1	268	-			35					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.104C>T	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535300	0.45176	.	.	ENSG00000099992	ENST00000215790;ENST00000403477	T;T	0.18174	2.23;3.53	4.13	3.1	0.35709	.	0.783594	0.11519	N	0.555865	T	0.09730	0.0239	N	0.14661	0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.12682	-1.0538	10	0.38643	T	0.18	.	6.2359	0.20762	0.1066:0.1878:0.7056:0.0	.	35;35;35	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	I	35	ENSP00000215790:T35I;ENSP00000384996:T35I	ENSP00000215790:T35I	T	-	2	0	TBC1D10A	29052767	0.815000	0.29118	0.337000	0.25536	0.754000	0.42855	1.587000	0.36622	0.843000	0.35070	0.430000	0.28490	ACC		0.711	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	0	NM_031937		22:30722767
MYH15	22989	broad.mit.edu	37	3	108172884	108172884	+	Nonsense_Mutation	SNP	G	G	A	rs201762535		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:108172884G>A	ENST00000273353.3	-	22	2484	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	810	IQ.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AATTTGATTCGCATCAGTTTG	0.448																																						ENST00000273353.3		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(2428-2430)Cga>Tga		myosin, heavy chain 15		G	stop/ARG	1,3835		0,1,1917	103.0	95.0	98.0		2428	-4.7	0.0	3		98	1,8283		0,1,4141	yes	stop-gained	MYH15	NM_014981.1		0,2,6058	AA,AG,GG		0.0121,0.0261,0.0165		810/1947	108172884	2,12118	1918	4142	6060	SO:0001587	stop_gained	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108172884G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2428C>T	3.37:g.108172884G>A	ENSP00000273353:p.Arg810*	False	False		Somatic	0					p.R810*	NM_014981.1	NP_055796.1	WXS	Illumina HiSeq	Phase_I	Q9Y2K3	MYH15_HUMAN			22	2484	-			810			IQ.			Nonsense_Mutation	SNP	ENST00000273353.3	37	c.2428C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	38	6.993775	0.97987	2.61E-4	1.21E-4	ENSG00000144821	ENST00000273353	.	.	.	5.51	-4.68	0.03309	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4871	0.16755	0.2937:0.0:0.3652:0.3411	.	.	.	.	X	810	.	ENSP00000273353:R810X	R	-	1	2	MYH15	109655574	0.146000	0.22672	0.000000	0.03702	0.931000	0.56810	-0.349000	0.07731	-0.540000	0.06265	-0.897000	0.02905	CGA		0.448	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	0	XM_036988		3:108172884
OR2M4	26245	broad.mit.edu	37	1	248402386	248402386	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:248402386G>T	ENST00000306687.1	+	1	156	c.156G>T	c.(154-156)gaG>gaT	p.E52D		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	52					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			TCTACATAGAGAAACAGCTCC	0.478																																						ENST00000306687.1		NA																	0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(154-156)gaG>gaT		olfactory receptor, family 2, subfamily M, member 4							203.0	190.0	195.0					1																	248402386		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402386G>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.156G>T	1.37:g.248402386G>T	ENSP00000306688:p.Glu52Asp	True	False		Somatic	0					p.E52D	NM_017504.1	NP_059974.1	WXS	Illumina HiSeq	Phase_I	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	156	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		52					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.156G>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.029643	0.00041	.	.	ENSG00000171180	ENST00000306687	T	0.02140	4.43	3.08	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	0.344625	0.20655	N	0.088135	T	0.00468	0.0015	N	0.00140	-2.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46735	-0.9170	10	0.02654	T	1	.	2.8665	0.05603	0.1816:0.523:0.1817:0.1137	.	52	Q96R27	OR2M4_HUMAN	D	52	ENSP00000306688:E52D	ENSP00000306688:E52D	E	+	3	2	OR2M4	246469009	0.000000	0.05858	0.096000	0.21009	0.114000	0.19823	-2.414000	0.01037	0.614000	0.30107	-0.268000	0.10319	GAG		0.478	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	0	NM_017504		1:248402386
GPR39	2863	broad.mit.edu	37	2	133402714	133402714	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:133402714C>G	ENST00000329321.3	+	2	1366	c.897C>G	c.(895-897)aaC>aaG	p.N299K	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	299					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATGCCCAACCAGATTCGGA	0.547																																						ENST00000329321.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(895-897)aaC>aaG		G protein-coupled receptor 39							88.0	76.0	80.0					2																	133402714		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402714C>G	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.897C>G	2.37:g.133402714C>G	ENSP00000327417:p.Asn299Lys	False	False		Somatic	0				LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	p.N299K	NM_001508.2	NP_001499.1	WXS	Illumina HiSeq	Phase_I	O43194	GPR39_HUMAN			2	1366	+			299					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.897C>G	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795528	0.50208	.	.	ENSG00000183840	ENST00000329321	T	0.71817	-0.6	5.3	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.108898	0.64402	D	0.000010	T	0.78104	0.4231	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	D	0.66847	0.947	T	0.77531	-0.2553	10	0.62326	D	0.03	.	9.5552	0.39334	0.0:0.7715:0.0:0.2285	.	299	O43194	GPR39_HUMAN	K	299	ENSP00000327417:N299K	ENSP00000327417:N299K	N	+	3	2	GPR39	133119184	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.664000	0.25068	0.799000	0.34018	0.650000	0.86243	AAC		0.547	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1	0			2:133402714
UBQLN4	56893	broad.mit.edu	37	1	156012004	156012004	+	Silent	SNP	G	G	A	rs192302628	byFrequency	TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:156012004G>A	ENST00000368309.3	-	8	1382	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	430					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGTTCCCCGCGAAGAGCGGCA	0.617													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18705	0.0		0.0	False		,,,				2504	0.0					ENST00000368309.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16						c.(1288-1290)ttC>ttT		ubiquilin 4							44.0	46.0	45.0					1																	156012004		2203	4300	6503	SO:0001819	synonymous_variant	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156012004G>A	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1290C>T	1.37:g.156012004G>A		False	False		Somatic	0					p.F430F	NM_020131.3	NP_064516.2	WXS	Illumina HiSeq	Phase_I	Q9NRR5	UBQL4_HUMAN			8	1382	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		430					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Silent	SNP	ENST00000368309.3	37	c.1290C>T	CCDS1127.1																																																																																				0.617	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	0	NM_020131		1:156012004
ABCB6	10058	broad.mit.edu	37	2	220080843	220080843	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr2:220080843G>A	ENST00000265316.3	-	5	1346	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	ABCB6_ENST00000439002.2_Missense_Mutation_p.R298W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	344	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTCCACCCGCCGAGACGTG	0.687																																						ENST00000265316.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1030-1032)Cgg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 6							24.0	27.0	26.0					2																	220080843		2193	4294	6487	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220080843G>A	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1030C>T	2.37:g.220080843G>A	ENSP00000265316:p.Arg344Trp	True	False		Somatic	0				ABCB6_ENST00000439002.2_Missense_Mutation_p.R298W	p.R344W	NM_005689.2	NP_005680.1	WXS	Illumina HiSeq	Phase_I	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	1346	-		Renal(207;0.0474)	344			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.1030C>T	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282959	0.40394	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.94376	-2.67;-3.41	5.07	2.06	0.26882	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.770646	0.12487	N	0.464574	D	0.94686	0.8286	M	0.71206	2.165	0.18873	N	0.999982	D;D	0.56746	0.975;0.977	P;P	0.55303	0.663;0.773	D	0.87676	0.2544	10	0.72032	D	0.01	-1.3565	12.0339	0.53415	0.0:0.4794:0.3877:0.1328	.	298;344	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	W	344;298	ENSP00000265316:R344W;ENSP00000394333:R298W	ENSP00000265316:R344W	R	-	1	2	ABCB6	219789087	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	1.031000	0.30165	0.306000	0.22856	0.650000	0.86243	CGG		0.687	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	0	NM_005689		2:220080843
OR2A14	135941	broad.mit.edu	37	7	143826573	143826573	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr7:143826573C>T	ENST00000408899.2	+	1	423	c.368C>T	c.(367-369)gCg>gTg	p.A123V		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GATCGCTATGCGGACATCTGC	0.493																																						ENST00000408899.2		NA																	0				large_intestine(4)|lung(17)|skin(1)	22						c.(367-369)gCg>gTg		olfactory receptor, family 2, subfamily A, member 14							224.0	221.0	222.0					7																	143826573		2151	4253	6404	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826573C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.368C>T	7.37:g.143826573C>T	ENSP00000386137:p.Ala123Val	False	False		Somatic	0					p.A123V	NM_001001659.1	NP_001001659.1	WXS	Illumina HiSeq	Phase_I	Q96R47	O2A14_HUMAN			1	423	+	Melanoma(164;0.0783)		123					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.368C>T	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.806132	0.00606	.	.	ENSG00000221938	ENST00000408899	T	0.00402	7.56	4.18	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.677608	0.11236	N	0.585087	T	0.00073	0.0002	N	0.00121	-2.07	0.22684	N	0.998858	B	0.02656	0.0	B	0.01281	0.0	T	0.23261	-1.0193	10	0.02654	T	1	-8.6728	8.1672	0.31233	0.0:0.099:0.0:0.901	.	123	Q96R47	O2A14_HUMAN	V	123	ENSP00000386137:A123V	ENSP00000386137:A123V	A	+	2	0	OR2A14	143457506	0.128000	0.22383	0.910000	0.35882	0.018000	0.09664	2.090000	0.41682	0.732000	0.32470	-0.415000	0.06103	GCG		0.493	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1	0			7:143826573
NLRP7	199713	broad.mit.edu	37	19	55450945	55450945	+	Silent	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr19:55450945C>T	ENST00000590030.1	-	3	1282	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	NLRP7_ENST00000340844.2_Silent_p.T414T|NLRP7_ENST00000592784.1_Silent_p.T414T|NLRP7_ENST00000588756.1_Silent_p.T414T|NLRP7_ENST00000328092.5_Silent_p.T414T|NLRP7_ENST00000446217.1_Silent_p.T442T|NLRP7_ENST00000448121.2_Silent_p.T414T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	414	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GGAGGCTCAGCGTCCGCAGCG	0.711																																						ENST00000588756.1		NA																	0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1240-1242)acG>acA		NLR family, pyrin domain containing 7							16.0	14.0	15.0					19																	55450945		2167	4243	6410	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55450945C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1242G>A	19.37:g.55450945C>T		False	False		Somatic	0				NLRP7_ENST00000328092.5_Silent_p.T414T|NLRP7_ENST00000590030.1_Silent_p.T414T|NLRP7_ENST00000448121.2_Silent_p.T414T|NLRP7_ENST00000446217.1_Silent_p.T442T|NLRP7_ENST00000592784.1_Silent_p.T414T|NLRP7_ENST00000340844.2_Silent_p.T414T	p.T414T			WXS	Illumina HiSeq	Phase_I	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1728	-			414			NACHT.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1242G>A	CCDS33109.1																																																																																				0.711	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	0	NM_139176		19:55450945
CSMD2	114784	broad.mit.edu	37	1	34092119	34092119	+	Missense_Mutation	SNP	C	C	T	rs529128430		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:34092119C>T	ENST00000373380.1	-	12	2102	c.1882G>A	c.(1882-1884)Gca>Aca	p.A628T	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.A1755T|CSMD2_ENST00000373377.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1715	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGGCTGGTGCGAGGCCTTTG	0.542																																						ENST00000373381.4		NA																	0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(5263-5265)Gca>Aca		CUB and Sushi multiple domains 2							58.0	52.0	54.0					1																	34092119		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34092119C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1882G>A	1.37:g.34092119C>T	ENSP00000362478:p.Ala628Thr	False	False		Somatic	0				CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.A628T|CSMD2_ENST00000373388.2_5'UTR	p.A1755T	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	WXS	Illumina HiSeq	Phase_I	Q7Z408	CSMD2_HUMAN			33	5439	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1715			Sushi 10.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.5263G>A		.	.	.	.	.	.	.	.	.	.	c	9.717	1.158608	0.21454	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.59083	0.29;0.29	5.87	0.757	0.18427	CUB (5);	0.497844	0.22002	N	0.065989	T	0.26340	0.0643	N	0.03903	-0.33	0.20403	N	0.999907	B;B;B	0.15473	0.002;0.013;0.002	B;B;B	0.15870	0.002;0.008;0.014	T	0.13737	-1.0498	10	0.22706	T	0.39	.	5.2569	0.15552	0.3639:0.4384:0.0:0.1976	.	628;1715;1755	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	T	1755;628	ENSP00000362479:A1755T;ENSP00000362478:A628T	ENSP00000241312:A1715T	A	-	1	0	CSMD2	33864706	0.019000	0.18553	0.012000	0.15200	0.327000	0.28475	0.209000	0.17435	0.103000	0.17682	-0.713000	0.03633	GCA		0.542	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	0	NM_052896		1:34092119
S100A3	6274	broad.mit.edu	37	1	153520200	153520200	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr1:153520200C>A	ENST00000368713.3	-	3	460	c.264G>T	c.(262-264)gaG>gaT	p.E88D	S100A3_ENST00000368712.1_Missense_Mutation_p.E88D|S100A4_ENST00000481009.1_5'Flank|S100A4_ENST00000354332.4_5'Flank|S100A4_ENST00000368714.1_Intron|S100A4_ENST00000368715.1_5'Flank|S100A4_ENST00000368716.4_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	88						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTGAAGTACTCGTGGCAGT	0.597																																						ENST00000368713.3		NA																	0				breast(1)|liver(1)|lung(1)	3						c.(262-264)gaG>gaT		S100 calcium binding protein A3							149.0	133.0	138.0					1																	153520200		2203	4300	6503	SO:0001583	missense	6274						calcium ion binding|protein binding	g.chr1:153520200C>A	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"""S100 calcium binding proteins"""	10493	protein-coding gene	gene with protein product		176992	"""S100 calcium-binding protein A3"""	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.264G>T	1.37:g.153520200C>A	ENSP00000357702:p.Glu88Asp	False	False		Somatic	0				S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Missense_Mutation_p.E88D	p.E88D	NM_002960.1	NP_002951.1	WXS	Illumina HiSeq	Phase_I	P33764	S10A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	460	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		88					D3DV51|Q6FGE4	Missense_Mutation	SNP	ENST00000368713.3	37	c.264G>T	CCDS1043.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485114	0.26598	.	.	ENSG00000188015	ENST00000368713;ENST00000368712	T;T	0.15139	2.45;2.45	5.02	-0.489	0.12052	EF-hand-like domain (1);	0.179337	0.47093	N	0.000253	T	0.03220	0.0094	L	0.41632	1.29	0.37075	D	0.898697	B	0.06786	0.001	B	0.06405	0.002	T	0.38779	-0.9645	10	0.08837	T	0.75	.	6.8995	0.24275	0.0:0.4367:0.3951:0.1682	.	88	P33764	S10A3_HUMAN	D	88	ENSP00000357702:E88D;ENSP00000357701:E88D	ENSP00000357701:E88D	E	-	3	2	S100A3	151786824	0.992000	0.36948	0.997000	0.53966	0.958000	0.62258	0.042000	0.13949	-0.037000	0.13646	0.655000	0.94253	GAG		0.597	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	0	NM_002960		1:153520200
PKNOX2	63876	broad.mit.edu	37	11	125281736	125281736	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:125281736G>A	ENST00000298282.9	+	10	1182	c.911G>A	c.(910-912)cGt>cAt	p.R304H	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.R240H	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	304					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AATATAATGCGTTCTTGGCTC	0.517																																						ENST00000298282.9		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(910-912)cGt>cAt		PBX/knotted 1 homeobox 2							139.0	138.0	138.0					11																	125281736		2064	4217	6281	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125281736G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.911G>A	11.37:g.125281736G>A	ENSP00000298282:p.Arg304His	False	False		Somatic	0				PKNOX2_ENST00000542175.1_Missense_Mutation_p.R240H|PKNOX2_ENST00000530517.1_3'UTR	p.R304H	NM_022062.2	NP_071345.2	WXS	Illumina HiSeq	Phase_I	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	10	1182	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	304					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.911G>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173199	0.94807	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.45	5.45	0.79879	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.91095	0.7197	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.987;0.98	D	0.91504	0.5221	10	0.87932	D	0	-4.6596	19.2404	0.93879	0.0:0.0:1.0:0.0	.	240;275;304	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	H	275;275;304;240;292	ENSP00000434732:R275H;ENSP00000433971:R275H;ENSP00000298282:R304H;ENSP00000441470:R240H	ENSP00000298282:R304H	R	+	2	0	PKNOX2	124786946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.048000	0.93830	2.714000	0.92807	0.561000	0.74099	CGT		0.517	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3	0			11:125281736
PHLPP1	23239	broad.mit.edu	37	18	60563163	60563163	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr18:60563163T>G	ENST00000262719.5	+	6	2597	c.2363T>G	c.(2362-2364)cTt>cGt	p.L788R	PHLPP1_ENST00000400316.4_Missense_Mutation_p.L276R			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	788					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GTGGATAAACTTTGTATGTCT	0.383																																						ENST00000400316.4		NA																	0				endometrium(2)|kidney(2)|lung(13)	17						c.(826-828)cTt>cGt		PH domain and leucine rich repeat protein phosphatase 1							118.0	112.0	114.0					18																	60563163		1852	4099	5951	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60563163T>G	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2363T>G	18.37:g.60563163T>G	ENSP00000262719:p.Leu788Arg	True	False		Somatic	0				PHLPP1_ENST00000262719.5_Missense_Mutation_p.L788R	p.L276R	NM_194449.3	NP_919431.2	WXS	Illumina HiSeq	Phase_I	O60346	PHLP1_HUMAN			6	2608	+			788					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.827T>G	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709037	0.89018	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.59638	0.25;0.25	5.07	5.07	0.68467	.	.	.	.	.	T	0.81250	0.4783	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.86211	0.1625	9	0.87932	D	0	-10.6448	15.016	0.71584	0.0:0.0:0.0:1.0	.	788	O60346	PHLP1_HUMAN	R	276;788	ENSP00000383170:L276R;ENSP00000262719:L788R	ENSP00000262719:L788R	L	+	2	0	PHLPP1	58714143	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.489000	0.81451	2.146000	0.66826	0.533000	0.62120	CTT		0.383	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	0	NM_194449		18:60563163
MCAM	4162	broad.mit.edu	37	11	119182565	119182565	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:119182565C>T	ENST00000264036.4	-	10	1252	c.1238G>A	c.(1237-1239)aGc>aAc	p.S413N	MCAM_ENST00000392814.1_Missense_Mutation_p.S362N	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	413	Ig-like C2-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCCGGGTATGCTGGGCACAGA	0.617																																						ENST00000392814.1		NA																	0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22						c.(1084-1086)aGc>aAc		melanoma cell adhesion molecule							89.0	92.0	91.0					11																	119182565		2199	4295	6494	SO:0001583	missense	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119182565C>T	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1238G>A	11.37:g.119182565C>T	ENSP00000264036:p.Ser413Asn	False	False		Somatic	0				MCAM_ENST00000264036.4_Missense_Mutation_p.S413N	p.S362N			WXS	Illumina HiSeq	Phase_I	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	5	1814	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	413			Ig-like C2-type 2.		O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	c.1085G>A	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664926	0.47572	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.15256	2.44;2.44	4.86	1.75	0.24633	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	.	.	.	.	T	0.20577	0.0495	M	0.80183	2.485	0.22354	N	0.999179	B	0.20671	0.047	B	0.20577	0.03	T	0.17684	-1.0361	9	0.38643	T	0.18	-5.4	6.2247	0.20701	0.0:0.5299:0.3693:0.1008	.	413	P43121	MUC18_HUMAN	N	413;362	ENSP00000264036:S413N;ENSP00000376561:S362N	ENSP00000264036:S413N	S	-	2	0	MCAM	118687775	0.002000	0.14202	0.803000	0.32268	0.710000	0.40934	-0.056000	0.11787	1.216000	0.43427	0.561000	0.74099	AGC		0.617	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2	0			11:119182565
APLP2	334	broad.mit.edu	37	11	129993656	129993656	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr11:129993656G>A	ENST00000263574.5	+	7	1144	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	APLP2_ENST00000278756.7_Missense_Mutation_p.A368T|APLP2_ENST00000528499.1_Intron|APLP2_ENST00000543137.1_Missense_Mutation_p.A265T|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000338167.5_Missense_Mutation_p.A358T	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	358	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TTATTGTATGGCTGTGTGTAA	0.562																																						ENST00000263574.5		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1072-1074)Gct>Act		amyloid beta (A4) precursor-like protein 2							152.0	142.0	146.0					11																	129993656		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129993656G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1072G>A	11.37:g.129993656G>A	ENSP00000263574:p.Ala358Thr	False	False		Somatic	0				APLP2_ENST00000278756.7_Missense_Mutation_p.A368T|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000543137.1_Missense_Mutation_p.A265T|APLP2_ENST00000338167.5_Missense_Mutation_p.A358T|APLP2_ENST00000528499.1_Intron	p.A358T	NM_001642.2	NP_001633.1	WXS	Illumina HiSeq	Phase_I	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	7	1144	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	358			BPTI/Kunitz inhibitor.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.1072G>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360245	0.95877	.	.	ENSG00000084234	ENST00000263574;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.61	5.61	0.85477	Proteinase inhibitor I2, Kunitz metazoa (6);	0.050804	0.85682	D	0.000000	T	0.66470	0.2792	L	0.42686	1.345	0.80722	D	1	P;D	0.89917	0.91;1.0	P;D	0.87578	0.508;0.998	T	0.61569	-0.7036	10	0.33141	T	0.24	-17.6546	18.621	0.91321	0.0:0.0:1.0:0.0	.	358;358	Q06481;Q06481-3	APLP2_HUMAN;.	T	358;358;368;265	ENSP00000263574:A358T;ENSP00000345444:A358T;ENSP00000278756:A368T;ENSP00000444122:A265T	ENSP00000263574:A358T	A	+	1	0	APLP2	129498866	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.630000	0.83225	2.631000	0.89168	0.650000	0.86243	GCT		0.562	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	0	NM_001642		11:129993656
CTNNB1	1499	broad.mit.edu	37	3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	rs121913407		TCGA-3A-A9J0-01A-11D-A40W-08	TCGA-3A-A9J0-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a6c492b-d3dc-4d8e-bb91-fef812140b6e	36b866cd-0189-43dc-8ebb-5839e55f48e1	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer). {ECO:0000269|PubMed:9065402}.|S -> F (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> P (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CACAGCTCCTTCTCTGAGTGG	0.502		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	355	Substitution - Missense(181)|Deletion - In frame(149)|Complex - deletion inframe(18)|Unknown(7)	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	liver(151)|kidney(53)|soft_tissue(47)|large_intestine(37)|adrenal_gland(28)|endometrium(9)|stomach(7)|skin(6)|pituitary(3)|prostate(3)|thyroid(2)|small_intestine(2)|bone(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(133-135)Tct>Cct		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						84.0	74.0	78.0					3																	41266136		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266136T>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.133T>C	3.37:g.41266136T>C	ENSP00000344456:p.Ser45Pro	False	False		Somatic	0				CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P	p.S45P	NM_001904.3	NP_001895.1	WXS	Illumina HiSeq	Phase_I	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	413	+			45		Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.133T>C	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440246	0.83993	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.65677	2.01	0.80722	D	1	D	0.60575	0.988	P	0.62649	0.905	T	0.69083	-0.5239	10	0.87932	D	0	-13.6823	16.3453	0.83126	0.0:0.0:0.0:1.0	.	45	P35222	CTNB1_HUMAN	P	38;45;45;45;45;38;45;45;45	ENSP00000400508:S38P;ENSP00000385604:S45P;ENSP00000412219:S45P;ENSP00000379486:S45P;ENSP00000344456:S45P;ENSP00000411226:S38P;ENSP00000379488:S45P;ENSP00000409302:S45P;ENSP00000401599:S45P	ENSP00000344456:S45P	S	+	1	0	CTNNB1	41241140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.261000	0.74972	0.533000	0.62120	TCT		0.502	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	0	NM_001098210		3:41266136
