#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
SRRM2	23524	broad.mit.edu	37	16	2813635	2813636	+	Frame_Shift_Del	DEL	TG	TG	-	rs72768765	byFrequency	TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:2813635_2813636delTG	ENST00000301740.8	+	11	3655_3656	c.3106_3107delTG	c.(3106-3108)tgtfs	p.C1036fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1036	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTCTCTCTCTGTGCAGGAGTA	0.48																																						ENST00000301740.8		NA																	0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(3106-3108)tgtfs		serine/arginine repetitive matrix 2																																				SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2813635_2813636delTG	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3106_3107delTG	16.37:g.2813637_2813638delTG	ENSP00000301740:p.Cys1036fs	True	False		Somatic	2					p.C1036fs	NM_016333.3	NP_057417.3	WXS	Illumina HiSeq	Phase_I	Q9UQ35	SRRM2_HUMAN			11	3655_3656	+			1036			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Del	DEL	ENST00000301740.8	37	c.3106_3107delTG	CCDS32373.1																																																																																				0.480	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1	0			16:2813635
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr20:46279833_46279834delGC	ENST00000371998.3	+	20	3950_3951	c.3759_3760delGC	c.(3757-3762)cagcaafs	p.QQ1253fs	NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000372004.3_Frame_Shift_Del_p.QQ1249fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55																																						ENST00000372004.3		NA																	0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3750)cagcaafs		nuclear receptor coactivator 3																																				SO:0001589	frameshift_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833_46279834delGC	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759_3760delGC	20.37:g.46279833_46279834delGC	ENSP00000361066:p.Gln1253fs	True	False		Somatic	1				NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	p.QQ1249fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina HiSeq	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3963_3964	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Frame_Shift_Del	DEL	ENST00000371998.3	37	c.3747_3748delGC	CCDS13407.1																																																																																				0.550	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	0	NM_006534		20:46279833
DGKK	139189	broad.mit.edu	37	X	50213545	50213556	+	RNA	DEL	GCGGCGGAGCCG	GCGGCGGAGCCG	-			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	GCGGCGGAGCCG	GCGGCGGAGCCG	-	-	GCGGCGGAGCCG	GCGGCGGAGCCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:50213545_50213556delGCGGCGGAGCCG	ENST00000376025.2	-	0	181_192							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGGAGAgcagcggcggagccggcggcggagc	0.693														4	0.0010596	0.0008	0.0014	3775	,	,		10178	0.0		0.0	False		,,,				2504	0.002					ENST00000376025.2		NA																	0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa				23,2795		5,10,3,1155,475						-3.9	0.0			19	82,5743		22,14,24,2121,1487	no	coding	DGKK	NM_001013742.2		27,24,27,3276,1962	A1A1,A1R,A1,RR,R		1.4077,0.8162,1.2149				105,8538						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213545_50213556delGCGGCGGAGCCG	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213545_50213556delGCGGCGGAGCCG		False	False		Somatic	1								WXS	Illumina HiSeq	Phase_I	Q5KSL6	DGKK_HUMAN			0	181_192	-	Ovarian(276;0.236)		NA					B2RP91	RNA	DEL	ENST00000376025.2	37																																																																																						0.693	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	0	NM_001013742		X:50213545
RBMX	27316	broad.mit.edu	37	X	135958816	135958817	+	Splice_Site	DEL	TG	TG	-			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:135958816_135958817delTG	ENST00000320676.7	-	5	543		c.e5-2		RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Splice_Site|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000562646.1_Splice_Site|RBMX_ENST00000565438.1_Splice_Site	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked						cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCGTCATCTGCATCAAAAAT	0.396																																						ENST00000562646.1		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.e5-2		RNA binding motif protein, X-linked																																				SO:0001630	splice_region_variant	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135958816_135958817delTG		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.389-2CA>-	X.37:g.135958816_135958817delTG		False	False		Somatic	1				RBMX_ENST00000570135.1_Splice_Site|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Splice_Site|RBMX_ENST00000320676.7_Splice_Site				WXS	Illumina HiSeq	Phase_I	P38159	HNRPG_HUMAN			5	543	-	Acute lymphoblastic leukemia(192;0.000127)		NA					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Splice_Site	DEL	ENST00000320676.7	37		CCDS14661.1																																																																																				0.396	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	0	NM_002139	Intron	X:135958816
HACL1	26061	broad.mit.edu	37	3	15613278	15613278	+	Splice_Site	DEL	T	T	-			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:15613278delT	ENST00000321169.5	-	12	1361		c.e12-2		HACL1_ENST00000457447.2_Intron|HACL1_ENST00000451445.2_Splice_Site|HACL1_ENST00000456194.2_Splice_Site|HACL1_ENST00000435217.2_Splice_Site	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1						cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTCTAAAAGCTTAAAAAAAAA	0.323																																						ENST00000451445.2		NA																	0				NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						c.e9-2		2-hydroxyacyl-CoA lyase 1							77.0	75.0	76.0					3																	15613278		2203	4300	6503	SO:0001630	splice_region_variant	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15613278delT	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.994-2A>-	3.37:g.15613278delT		False	False		Somatic	2				HACL1_ENST00000456194.2_Splice_Site|HACL1_ENST00000435217.2_Splice_Site|HACL1_ENST00000457447.2_Intron|HACL1_ENST00000321169.5_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q9UJ83	HACL1_HUMAN			9	871	-			NA					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Splice_Site	DEL	ENST00000321169.5	37		CCDS2627.1																																																																																				0.323	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	0	NM_012260	Intron	3:15613278
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158991673	158991674	+	Splice_Site	INS	-	-	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:158991673_158991674insT	ENST00000337808.6	+	1	640		c.e1+1		IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000412423.2_Splice_Site|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000527095.1_Splice_Site|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1			IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CTCTGACAGTGTAAGTTTTACA	0.406																																						ENST00000337808.6		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.e1+1																																						SO:0001630	splice_region_variant	0					cytoplasm	identical protein binding|protein binding	g.chr3:158991673_158991674insT		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000337808.6:c.63+1->T	3.37:g.158991674_158991674dupT		False	False		Somatic	1				IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000412423.2_Splice_Site|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000527095.1_Splice_Site|IQCJ-SCHIP1_ENST00000476809.1_Intron		NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	WXS	Illumina HiSeq	Phase_I	Q9P0W5	SCHI1_HUMAN			1	640	+			NA						Splice_Site	INS	ENST00000337808.6	37		CCDS3186.1																																																																																				0.406	IQCJ-SCHIP1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352557.1	0	NM_001197113	Intron	3:158991673
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)aagagafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs	True	False		Somatic	1					p.KR41fs	NM_001284.2	NP_001275.1	WXS	Illumina HiSeq	Phase_I	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2	0			5:115202418
KMT2E	55904	broad.mit.edu	37	7	104730658	104730715	+	Frame_Shift_Del	DEL	AAGAGCCCAGAAACTAAACAAAGAAAGCTTTCTCCACTGAGACTATCAGTATCAAATA	AAGAGCCCAGAAACTAAACAAAGAAAGCTTTCTCCACTGAGACTATCAGTATCAAATA	-	rs185794768|rs373311912	byFrequency	TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	AAGAGCCCAGAAACTAAACAAAGAAAGCTTTCTCCACTGAGACTATCAGTATCAAATA	AAGAGCCCAGAAACTAAACAAAGAAAGCTTTCTCCACTGAGACTATCAGTATCAAATA	-	-	AAGAGCCCAGAAACTAAACAAAGAAAGCTTTCTCCACTGAGACTATCAGTATCAAATA	AAGAGCCCAGAAACTAAACAAAGAAAGCTTTCTCCACTGAGACTATCAGTATCAAATA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:104730658_104730715delAAGAGCCCAGAAACTAAACAAAGAAAGCTTTCTCCACTGAGACTATCAGTATCAAATA	ENST00000311117.3	+	14	2106_2163	c.1561_1618delAAGAGCCCAGAAACTAAACAAAGAAAGCTTTCTCCACTGAGACTATCAGTATCAAATA	c.(1561-1620)aagagcccagaaactaaacaaagaaagctttctccactgagactatcagtatcaaataatfs	p.KSPETKQRKLSPLRLSVSNN521fs	KMT2E_ENST00000476671.1_Frame_Shift_Del_p.KSPETKQRKLSPLRLSVSNN521fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Frame_Shift_Del_p.KSPETKQRKLSPLRLSVSNN521fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.KSPETKQRKLSPLRLSVSNN521fs	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	521					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S536L(1)									CAACAAAATGAAGAGCCCAGAAACTAAACAAAGAAAGCTTTCTCCACTGAGACTATCAGTATCAAATAATCAGGTACT	0.306																																						ENST00000311117.3		NA																	1	Substitution - Missense(1)	p.S536L(1)	lung(1)		NA						c.(1561-1620)aagagcccagaaactaaacaaagaaagctttctccactgagactatcagtatcaaataatfs		lysine (K)-specific methyltransferase 2E																																				SO:0001589	frameshift_variant	55904							g.chr7:104730658_104730715delAAGAGCCCAGAAACTAAACAAAGAAAGCTTTCTCCACTGAGACTATCAGTATCAAATA	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1561_1618delAAGAGCCCAGAAACTAAACAAAGAAAGCTTTCTCCACTGAGACTATCAGTATCAAATA	7.37:g.104730658_104730715delAAGAGCCCAGAAACTAAACAAAGAAAGCTTTCTCCACTGAGACTATCAGTATCAAATA	ENSP00000312379:p.Lys521fs	True	False		Somatic	1				KMT2E_ENST00000334877.4_Frame_Shift_Del_p.KSPETKQRKLSPLRLSVSNN521fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.KSPETKQRKLSPLRLSVSNN521fs|KMT2E_ENST00000476671.1_Frame_Shift_Del_p.KSPETKQRKLSPLRLSVSNN521fs	p.KSPETKQRKLSPLRLSVSNN521fs	NM_182931.2	NP_891847.1	WXS	Illumina HiSeq	Phase_I					14	2106_2163	+			NA					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Del	DEL	ENST00000311117.3	37	c.1561_1618delAAGAGCCCAGAAACTAAACAAAGAAAGCTTTCTCCACTGAGACTATCAGTATCAAATA	CCDS34723.1																																																																																				0.306	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1	0			7:104730658
ZNF174	7727	broad.mit.edu	37	16	3452365	3452365	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:3452365G>A	ENST00000268655.4	+	1	946	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	ZSCAN32_ENST00000396852.4_5'Flank|ZNF174_ENST00000575752.1_Missense_Mutation_p.V121M|ZSCAN32_ENST00000304926.3_5'Flank|ZSCAN32_ENST00000422427.2_5'Flank|ZNF174_ENST00000571936.1_Missense_Mutation_p.V121M|ZNF174_ENST00000344823.5_Missense_Mutation_p.V121M|ZSCAN32_ENST00000573830.1_5'Flank|ZNF174_ENST00000572544.1_Missense_Mutation_p.V121M|ZSCAN32_ENST00000439568.2_5'Flank	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	121	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TGTGACCCTCGTGGAAGATTT	0.498																																						ENST00000268655.4		NA																	0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(361-363)Gtg>Atg		zinc finger protein 174							65.0	67.0	66.0					16																	3452365		2197	4300	6497	SO:0001583	missense	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3452365G>A	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.361G>A	16.37:g.3452365G>A	ENSP00000268655:p.Val121Met	False	False		Somatic	0				ZNF174_ENST00000571936.1_Missense_Mutation_p.V121M|ZNF174_ENST00000575752.1_Missense_Mutation_p.V121M|ZNF174_ENST00000344823.5_Missense_Mutation_p.V121M|ZNF174_ENST00000572544.1_Missense_Mutation_p.V121M	p.V121M	NM_003450.2	NP_003441.1	WXS	Illumina HiSeq	Phase_I	Q15697	ZN174_HUMAN			1	946	+			121			SCAN box.		Q53Y68|Q9BQ34	Missense_Mutation	SNP	ENST00000268655.4	37	c.361G>A	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380339	0.42207	.	.	ENSG00000103343	ENST00000344823;ENST00000268655	T;T	0.07021	3.23;3.23	4.5	4.5	0.54988	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.43747	D	0.000531	T	0.25232	0.0613	M	0.71206	2.165	0.36337	D	0.859256	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.986;0.992;0.973	T	0.03761	-1.1006	10	0.87932	D	0	.	10.9404	0.47270	0.0:0.1892:0.8108:0.0	.	121;121;121	Q15697;Q15697-2;Q8IZN5	ZN174_HUMAN;.;.	M	121	ENSP00000339781:V121M;ENSP00000268655:V121M	ENSP00000268655:V121M	V	+	1	0	ZNF174	3392366	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	3.912000	0.56386	2.790000	0.95986	0.655000	0.94253	GTG		0.498	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	0	NM_003450		16:3452365
CCDC27	148870	broad.mit.edu	37	1	3673402	3673402	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:3673402A>T	ENST00000294600.2	+	4	743	c.659A>T	c.(658-660)cAg>cTg	p.Q220L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	220										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GTCGCATCTCAGAGCTGCCTG	0.572																																						ENST00000294600.2		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(658-660)cAg>cTg		coiled-coil domain containing 27							50.0	49.0	49.0					1																	3673402		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3673402A>T		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.659A>T	1.37:g.3673402A>T	ENSP00000294600:p.Gln220Leu	False	False		Somatic	0					p.Q220L	NM_152492.2	NP_689705.2	WXS	Illumina HiSeq	Phase_I	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	4	743	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	220					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.659A>T	CCDS50.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.809654	0.31961	.	.	ENSG00000162592	ENST00000294600	T	0.21031	2.03	3.84	1.11	0.20524	.	0.944655	0.08686	N	0.908701	T	0.14570	0.0352	L	0.29908	0.895	0.09310	N	1	P	0.42584	0.784	B	0.40101	0.319	T	0.21484	-1.0244	10	0.66056	D	0.02	-10.1696	3.8496	0.08949	0.5575:0.2248:0.0:0.2177	.	220	Q2M243	CCD27_HUMAN	L	220	ENSP00000294600:Q220L	ENSP00000294600:Q220L	Q	+	2	0	CCDC27	3663262	0.065000	0.20965	0.006000	0.13384	0.246000	0.25737	1.393000	0.34497	0.584000	0.29591	0.260000	0.18958	CAG		0.572	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	0	NM_152492		1:3673402
RP11-337C18.8	0	broad.mit.edu	37	1	146650112	146650112	+	RNA	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:146650112G>A	ENST00000607149.1	+	0	350				RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.9_ENST00000606152.1_RNA																							TGCCTCTCAGGACTGAGGAAG	0.448																																						ENST00000607149.1		NA																	0					NA																																														0							g.chr1:146650112G>A																													1.37:g.146650112G>A		False	False		Somatic	0				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA				WXS	Illumina HiSeq	Phase_I					0	350	+			NA						RNA	SNP	ENST00000607149.1	37																																																																																						0.448	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1	0			1:146650112
COL6A2	1292	broad.mit.edu	37	21	47545202	47545202	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr21:47545202T>A	ENST00000300527.4	+	24	1897	c.1793T>A	c.(1792-1794)gTg>gAg	p.V598E	COL6A2_ENST00000409416.1_Missense_Mutation_p.V598E|COL6A2_ENST00000357838.4_Missense_Mutation_p.V598E|COL6A2_ENST00000310645.5_Missense_Mutation_p.V598E|COL6A2_ENST00000397763.1_Missense_Mutation_p.V598E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	598	Nonhelical region.				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)		ATGACCTACGTGAGGGAGACC	0.687																																						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.(1792-1794)gTg>gAg		collagen, type VI, alpha 2							98.0	97.0	97.0					21																	47545202		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.chr21:47545202T>A	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.1793T>A	21.37:g.47545202T>A	ENSP00000300527:p.Val598Glu	False	False		Somatic	0				COL6A2_ENST00000409416.1_Missense_Mutation_p.V598E|COL6A2_ENST00000397763.1_Missense_Mutation_p.V598E|COL6A2_ENST00000357838.4_Missense_Mutation_p.V598E|COL6A2_ENST00000310645.5_Missense_Mutation_p.V598E	p.V598E	NM_001849.3	NP_001840.3	WXS	Illumina HiSeq	Phase_I	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	24	1897	+	Breast(49;0.245)		598			Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1793T>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.773717	0.90108	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;T	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-1.12	4.51	4.51	0.55191	.	0.286383	0.35739	N	0.003001	D	0.95551	0.8554	M	0.65498	2.005	0.54753	D	0.999989	D;D;D	0.69078	0.995;0.997;0.994	P;D;P	0.66497	0.841;0.944;0.9	D	0.95952	0.8955	10	0.87932	D	0	-19.3525	13.8316	0.63384	0.0:0.0:0.0:1.0	.	598;598;598	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	E	598;598;598;598;598;139	ENSP00000300527:V598E;ENSP00000350497:V598E;ENSP00000312529:V598E;ENSP00000387115:V598E;ENSP00000380870:V598E;ENSP00000395751:V139E	ENSP00000300527:V598E	V	+	2	0	COL6A2	46369630	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.636000	0.83301	1.683000	0.51011	0.472000	0.43445	GTG		0.687	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1	0			21:47545202
DEK	7913	broad.mit.edu	37	6	18258216	18258216	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:18258216G>C	ENST00000397239.3	-	4	772	c.325C>G	c.(325-327)Cta>Gta	p.L109V	DEK_ENST00000244776.7_Missense_Mutation_p.L75V	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	109					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			AGTTTGTGTAGATTTCTAAGT	0.333			T	NUP214	AML																																	ENST00000397239.3		NA		Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(325-327)Cta>Gta		DEK oncogene							124.0	118.0	120.0					6																	18258216		2202	4299	6501	SO:0001583	missense	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18258216G>C	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.325C>G	6.37:g.18258216G>C	ENSP00000380414:p.Leu109Val	False	False		Somatic	0				DEK_ENST00000244776.7_Missense_Mutation_p.L75V	p.L109V	NM_003472.3	NP_003463.1	WXS	Illumina HiSeq	Phase_I	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		4	772	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	109					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	c.325C>G	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732566	0.69189	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000503715;ENST00000515742	T;T;T;T	0.75938	-0.98;-0.85;-0.19;-0.5	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	L	0.59436	1.845	0.44000	D	0.996703	D;D	0.54772	0.968;0.968	D;D	0.70716	0.97;0.97	T	0.79976	-0.1576	10	0.52906	T	0.07	-12.7977	11.3849	0.49778	0.1365:0.0:0.8635:0.0	.	75;109	B4DN37;P35659	.;DEK_HUMAN	V	109;75;42;114	ENSP00000380414:L109V;ENSP00000244776:L75V;ENSP00000425399:L42V;ENSP00000423553:L114V	ENSP00000244776:L75V	L	-	1	2	DEK	18366195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.999000	0.57031	1.631000	0.50456	0.655000	0.94253	CTA		0.333	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4	0			6:18258216
PCDHGA6	56109	broad.mit.edu	37	5	140754472	140754472	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr5:140754472C>T	ENST00000517434.1	+	1	822	c.822C>T	c.(820-822)caC>caT	p.H274H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	274	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGAGTCCACGGGGAAGTAA	0.433																																						ENST00000517434.1		NA																	0				breast(1)|large_intestine(1)	2						c.(820-822)caC>caT									53.0	54.0	54.0					5																	140754472		1890	4116	6006	SO:0001819	synonymous_variant	0							g.chr5:140754472C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.822C>T	5.37:g.140754472C>T		True	False		Somatic	0				PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	p.H274H	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	822	+			NA					A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.822C>T	CCDS54926.1																																																																																				0.433	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	0	NM_018919		5:140754472
SIDT2	51092	broad.mit.edu	37	11	117058103	117058103	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:117058103G>C	ENST00000324225.4	+	11	1556	c.1025G>C	c.(1024-1026)cGa>cCa	p.R342P	SIDT2_ENST00000431081.2_Missense_Mutation_p.R346P	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	342					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGTCACCCTCGAGTCCTGGCT	0.522																																						ENST00000324225.4		NA																	0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1024-1026)cGa>cCa		SID1 transmembrane family, member 2							179.0	136.0	151.0					11																	117058103		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117058103G>C	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1025G>C	11.37:g.117058103G>C	ENSP00000314023:p.Arg342Pro	False	False		Somatic	0				SIDT2_ENST00000431081.2_Missense_Mutation_p.R346P	p.R342P	NM_001040455.1	NP_001035545.1	WXS	Illumina HiSeq	Phase_I	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	11	1556	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	342					Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.1025G>C	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250742	0.39797	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.18810	2.19;2.22;2.21	4.93	4.93	0.64822	.	0.308789	0.32473	N	0.006059	T	0.14830	0.0358	N	0.03154	-0.405	0.34842	D	0.740825	B;P;B;P	0.40032	0.416;0.699;0.324;0.471	B;B;P;P	0.48488	0.443;0.224;0.482;0.579	T	0.28364	-1.0046	10	0.33940	T	0.23	-23.5708	12.0315	0.53399	0.0826:0.0:0.9174:0.0	.	342;346;342;342	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	P	342;342;346	ENSP00000314023:R342P;ENSP00000278951:R342P;ENSP00000399635:R346P	ENSP00000278951:R342P	R	+	2	0	SIDT2	116563313	0.924000	0.31332	1.000000	0.80357	0.972000	0.66771	4.485000	0.60279	2.576000	0.86940	0.561000	0.74099	CGA		0.522	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	0	NM_015996		11:117058103
METTL17	64745	broad.mit.edu	37	14	21458225	21458225	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr14:21458225C>T	ENST00000339374.6	+	1	297	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	METTL17_ENST00000382985.4_Missense_Mutation_p.P22S|METTL17_ENST00000556670.2_Missense_Mutation_p.P22S|METTL17_ENST00000555177.1_3'UTR	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	22					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TGGAGTGGCTCCCCAGGCCCG	0.637																																						ENST00000339374.6		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(64-66)Ccc>Tcc		methyltransferase like 17							56.0	65.0	62.0					14																	21458225		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21458225C>T	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.64C>T	14.37:g.21458225C>T	ENSP00000343041:p.Pro22Ser	True	False		Somatic	0				METTL17_ENST00000556670.2_Missense_Mutation_p.P22S|METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000382985.4_Missense_Mutation_p.P22S	p.P22S	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	WXS	Illumina HiSeq	Phase_I	Q9H7H0	MET17_HUMAN			1	297	+			22					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.64C>T	CCDS9562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.38|16.38	3.107017|3.107017	0.56291|0.56291	.|.	.|.	ENSG00000165792|ENSG00000165792	ENST00000339374;ENST00000382985|ENST00000536700;ENST00000554283	T;T|.	0.29655|.	1.62;1.56|.	6.07|6.07	2.21|2.21	0.28008|0.28008	.|.	0.791149|.	0.11842|.	N|.	0.524220|.	T|T	0.24586|0.24586	0.0596|0.0596	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.23806|.	0.091;0.006;0.003;0.006|.	B;B;B;B|.	0.17433|.	0.018;0.012;0.003;0.007|.	T|T	0.26430|0.26430	-1.0103|-1.0103	10|6	0.18710|0.87932	T|D	0.47|0	.|.	3.0434|3.0434	0.06146|0.06146	0.1452:0.5622:0.1401:0.1526|0.1452:0.5622:0.1401:0.1526	.|.	22;22;22;22|.	B4E298;Q9H7H0-3;Q9H7H0;Q9H7H0-2|.	.;.;MET17_HUMAN;.|.	S|F	22|9	ENSP00000343041:P22S;ENSP00000372445:P22S|.	ENSP00000343041:P22S|ENSP00000440779:S9F	P|S	+|+	1|2	0|0	METTL17|METTL17	20528065|20528065	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.024000|0.024000	0.10985|0.10985	-0.224000|-0.224000	0.09164|0.09164	0.141000|0.141000	0.18875|0.18875	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.637	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	0	NM_022734		14:21458225
BTG2	7832	broad.mit.edu	37	1	203276480	203276480	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:203276480T>G	ENST00000290551.4	+	2	462	c.391T>G	c.(391-393)Tcc>Gcc	p.S131A	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	131					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			ACTGGCCGCCTCCTGTGGGCT	0.652																																						ENST00000290551.4		NA																	0				haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(391-393)Tcc>Gcc		BTG family, member 2							43.0	47.0	46.0					1																	203276480		2203	4300	6503	SO:0001583	missense	7832				DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr1:203276480T>G		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.391T>G	1.37:g.203276480T>G	ENSP00000290551:p.Ser131Ala	False	False		Somatic	0					p.S131A	NM_006763.2	NP_006754.1	WXS	Illumina HiSeq	Phase_I	P78543	BTG2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.203)		2	462	+			131					A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	c.391T>G	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	T	8.763	0.924122	0.18056	.	.	ENSG00000159388	ENST00000290551	T	0.24151	1.87	5.06	3.91	0.45181	.	0.094228	0.45361	D	0.000365	T	0.19248	0.0462	L	0.44542	1.39	0.32156	N	0.58352	B	0.14805	0.011	B	0.16289	0.015	T	0.09164	-1.0687	10	0.38643	T	0.18	-12.5884	6.3092	0.21154	0.0:0.0854:0.1574:0.7572	.	131	P78543	BTG2_HUMAN	A	131	ENSP00000290551:S131A	ENSP00000290551:S131A	S	+	1	0	BTG2	201543103	1.000000	0.71417	0.995000	0.50966	0.423000	0.31445	1.427000	0.34881	1.911000	0.55334	0.260000	0.18958	TCC		0.652	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	0	NM_006763		1:203276480
ZPR1	8882	broad.mit.edu	37	11	116652933	116652933	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:116652933C>T	ENST00000227322.3	-	12	1179	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		374					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TTGGAACTGTCGCCCAGTGTG	0.458																																						ENST00000227322.3		NA																	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1120-1122)Gac>Aac		zinc finger protein 259							116.0	99.0	105.0					11																	116652933		2201	4296	6497	SO:0001583	missense	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116652933C>T																												ENST00000227322.3:c.1120G>A	11.37:g.116652933C>T	ENSP00000227322:p.Asp374Asn	False	False		Somatic	0					p.D374N	NM_003904.3	NP_003895.1	WXS	Illumina HiSeq	Phase_I	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	12	1179	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	374					Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	c.1120G>A	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.735372|5.735372	0.96865|0.96865	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000227322|ENST00000429220	T|.	0.44881|.	0.91|.	6.02|6.02	6.02|6.02	0.97574|0.97574	Zinc finger, ZPR1-type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88343|0.88343	0.6411|0.6411	H|H	0.95780|0.95780	3.72|3.72	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90566|0.90566	0.4519|0.4519	10|5	0.72032|.	D|.	0.01|.	-35.8364|-35.8364	20.5407|20.5407	0.99260|0.99260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	374|.	O75312|.	ZPR1_HUMAN|.	N|Q	374|300	ENSP00000227322:D374N|.	ENSP00000227322:D374N|.	D|R	-|-	1|2	0|0	ZNF259|ZNF259	116158143|116158143	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.861000|0.861000	0.49209|0.49209	6.708000|6.708000	0.74660|0.74660	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.458	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2	0			11:116652933
ZNF789	285989	broad.mit.edu	37	7	99084963	99084963	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:99084963C>T	ENST00000331410.5	+	5	1400	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGTGGGAAAACGTTTAGTTTT	0.403																																						ENST00000331410.5		NA																	0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(1129-1131)aCg>aTg		zinc finger protein 789							139.0	137.0	138.0					7																	99084963		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084963C>T	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.1130C>T	7.37:g.99084963C>T	ENSP00000331927:p.Thr377Met	True	False		Somatic	0				ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	p.T377M	NM_213603.2	NP_998768.2	WXS	Illumina HiSeq	Phase_I	Q5FWF6	ZN789_HUMAN			5	1400	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		377					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.1130C>T	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	C	2.833	-0.242182	0.05906	.	.	ENSG00000198556	ENST00000331410	T	0.21031	2.03	2.89	1.98	0.26296	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29684	0.0741	L	0.60455	1.87	0.19300	N	0.99998	D	0.76494	0.999	P	0.54815	0.761	T	0.09250	-1.0683	9	0.66056	D	0.02	.	5.4818	0.16727	0.2327:0.5406:0.2266:0.0	.	377	Q5FWF6	ZN789_HUMAN	M	377	ENSP00000331927:T377M	ENSP00000331927:T377M	T	+	2	0	ZNF789	98922899	0.000000	0.05858	0.232000	0.24009	0.029000	0.11900	0.055000	0.14229	0.774000	0.33427	-0.188000	0.12872	ACG		0.403	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	0	NM_213603		7:99084963
LCE1E	353135	broad.mit.edu	37	1	152759809	152759809	+	Missense_Mutation	SNP	C	C	T	rs371769442		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:152759809C>T	ENST00000368770.3	+	2	87	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	LCE1E_ENST00000368771.1_Missense_Mutation_p.P12S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	12	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTGCCAGCCCCctcccaa	0.602																																						ENST00000368770.3		NA																	0				lung(5)|stomach(1)	6						c.(34-36)Ccc>Tcc		late cornified envelope 1E		C	SER/PRO	0,4406		0,0,2203	108.0	116.0	113.0		34	0.8	1.0	1		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	LCE1E	NM_178353.1	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/119	152759809	1,13005	2203	4300	6503	SO:0001583	missense	353135				keratinization			g.chr1:152759809C>T	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.34C>T	1.37:g.152759809C>T	ENSP00000357759:p.Pro12Ser	True	False		Somatic	0				LCE1E_ENST00000368771.1_Missense_Mutation_p.P12S	p.P12S	NM_178353.1	NP_848130.1	WXS	Illumina HiSeq	Phase_I	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	87	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		12			Cys-rich.		D3DV30	Missense_Mutation	SNP	ENST00000368770.3	37	c.34C>T	CCDS1024.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308187	0.23821	0.0	1.16E-4	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.04654	3.58;3.58	4.06	0.748	0.18376	.	0.257811	0.20594	N	0.089291	T	0.02418	0.0074	M	0.77820	2.39	0.22842	N	0.998663	B	0.33612	0.419	B	0.30646	0.118	T	0.30446	-0.9978	10	0.87932	D	0	.	7.0434	0.25033	0.185:0.4545:0.3605:0.0	.	12	Q5T753	LCE1E_HUMAN	S	12	ENSP00000357760:P12S;ENSP00000357759:P12S	ENSP00000357759:P12S	P	+	1	0	LCE1E	151026433	0.240000	0.23847	0.989000	0.46669	0.997000	0.91878	-0.252000	0.08806	0.432000	0.26286	0.514000	0.50259	CCC		0.602	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	0	NM_178353		1:152759809
FLNA	2316	broad.mit.edu	37	X	153583275	153583275	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:153583275T>C	ENST00000369850.3	-	31	5371	c.5135A>G	c.(5134-5136)tAc>tGc	p.Y1712C	FLNA_ENST00000360319.4_Missense_Mutation_p.Y1704C|FLNA_ENST00000422373.1_Missense_Mutation_p.Y1704C|FLNA_ENST00000344736.4_Missense_Mutation_p.Y1704C|FLNA_ENST00000369856.3_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1712					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGGGCCGTGTAGAAGATGTC	0.617											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000422373.1		NA																	0				breast(6)	6						c.(5110-5112)tAc>tGc		filamin A, alpha							50.0	53.0	52.0					X																	153583275		2176	4244	6420	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153583275T>C	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5135A>G	X.37:g.153583275T>C	ENSP00000358866:p.Tyr1712Cys	False	False		Somatic	0	OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_ENST00000369850.3_Missense_Mutation_p.Y1712C|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Missense_Mutation_p.Y1704C|FLNA_ENST00000344736.4_Missense_Mutation_p.Y1704C	p.Y1704C	NM_001456.3	NP_001447.2	WXS	Illumina HiSeq	Phase_I	P21333	FLNA_HUMAN			30	5359	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1712					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.5111A>G	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.057671	0.55325	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7	5.12	5.12	0.69794	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.98485	0.9495	H	0.96748	3.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99605	1.0979	10	0.87932	D	0	.	14.2282	0.65873	0.0:0.0:0.0:1.0	.	1704;1712	P21333-2;P21333	.;FLNA_HUMAN	C	1704;1685;1704;1712;1704	ENSP00000353467:Y1704C;ENSP00000416926:Y1704C;ENSP00000358866:Y1712C;ENSP00000358863:Y1704C	ENSP00000358863:Y1704C	Y	-	2	0	FLNA	153236469	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	6.061000	0.71148	1.806000	0.52798	0.486000	0.48141	TAC		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3	0			X:153583275
ATP13A5	344905	broad.mit.edu	37	3	193081933	193081933	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:193081933G>T	ENST00000342358.4	-	2	317	c.200C>A	c.(199-201)cCc>cAc	p.P67H		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	67						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCTTGCAAGGGGCATGGGAT	0.537																																						ENST00000342358.4		NA																	0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(199-201)cCc>cAc		ATPase type 13A5							168.0	158.0	161.0					3																	193081933		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193081933G>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.200C>A	3.37:g.193081933G>T	ENSP00000341942:p.Pro67His	True	False		Somatic	0					p.P67H	NM_198505.2	NP_940907.2	WXS	Illumina HiSeq	Phase_I	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	2	317	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		67					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.200C>A	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558540	0.45590	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.26810	1.71;1.71	5.5	5.5	0.81552	.	1.028430	0.07696	N	0.939569	T	0.45776	0.1359	M	0.61703	1.905	0.23872	N	0.996606	P	0.42556	0.783	P	0.53450	0.726	T	0.36744	-0.9735	10	0.62326	D	0.03	-0.3321	12.9373	0.58322	0.0:0.1628:0.8372:0.0	.	67	Q4VNC0	AT135_HUMAN	H	67;89	ENSP00000341942:P67H;ENSP00000389416:P89H	ENSP00000341942:P67H	P	-	2	0	ATP13A5	194564627	0.703000	0.27826	0.735000	0.30896	0.211000	0.24417	2.071000	0.41500	2.765000	0.95021	0.650000	0.86243	CCC		0.537	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	0	NM_198505		3:193081933
UBR2	23304	broad.mit.edu	37	6	42541728	42541728	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:42541728G>C	ENST00000372899.1	+	2	593	c.335G>C	c.(334-336)tGc>tCc	p.C112S	UBR2_ENST00000372901.1_Missense_Mutation_p.C112S|UBR2_ENST00000372903.2_Missense_Mutation_p.C112S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	112					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACATATTCTTGCAGGTAAAAT	0.328																																						ENST00000372899.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(334-336)tGc>tCc		ubiquitin protein ligase E3 component n-recognin 2							64.0	68.0	67.0					6																	42541728		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42541728G>C	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.335G>C	6.37:g.42541728G>C	ENSP00000361990:p.Cys112Ser	False	False		Somatic	0				UBR2_ENST00000372903.2_Missense_Mutation_p.C112S|UBR2_ENST00000372901.1_Missense_Mutation_p.C112S	p.C112S	NM_015255.2	NP_056070.1	WXS	Illumina HiSeq	Phase_I	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		2	593	+	Colorectal(47;0.196)		112					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.335G>C	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843827	0.91197	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	D;D;D	0.97553	-4.43;-4.43;-4.43	5.68	5.68	0.88126	Zinc finger, N-recognin, metazoa (1);Zinc finger, N-recognin (2);	0.045834	0.85682	D	0.000000	D	0.99233	0.9733	H	0.97962	4.115	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.995	D	0.98951	1.0794	10	0.87932	D	0	-3.8635	19.7873	0.96444	0.0:0.0:1.0:0.0	.	112;112	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	S	112	ENSP00000361994:C112S;ENSP00000361990:C112S;ENSP00000361992:C112S	ENSP00000361990:C112S	C	+	2	0	UBR2	42649706	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.673000	0.90976	0.655000	0.94253	TGC		0.328	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	0	NM_015255		6:42541728
BRWD3	254065	broad.mit.edu	37	X	79985487	79985487	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:79985487G>A	ENST00000373275.4	-	13	1376	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	387					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AATTCTTGCCGTTCCATCTCG	0.299																																						ENST00000373275.4		NA																	0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(1159-1161)aCg>aTg		bromodomain and WD repeat domain containing 3							157.0	132.0	140.0					X																	79985487		2203	4299	6502	SO:0001583	missense	254065							g.chrX:79985487G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1160C>T	X.37:g.79985487G>A	ENSP00000362372:p.Thr387Met	False	False		Somatic	0					p.T387M	NM_153252.4	NP_694984	WXS	Illumina HiSeq	Phase_I	Q6RI45	BRWD3_HUMAN			13	1376	-			387					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1160C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237206	0.79800	.	.	ENSG00000165288	ENST00000373275	T	0.69561	-0.41	4.37	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.83953	2.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.85220	0.1026	9	.	.	.	-2.364	16.3826	0.83473	0.0:0.0:1.0:0.0	.	387	Q6RI45	BRWD3_HUMAN	M	387	ENSP00000362372:T387M	.	T	-	2	0	BRWD3	79872143	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.207000	0.77899	2.035000	0.60131	0.513000	0.50165	ACG		0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	0	NM_153252		X:79985487
OR5T3	390154	broad.mit.edu	37	11	56019769	56019769	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:56019769C>T	ENST00000303059.3	+	1	94	c.94C>T	c.(94-96)Cca>Tca	p.P32S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATACAGGAATCCACTGAAGAA	0.358																																						ENST00000303059.3		NA																	0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(94-96)Cca>Tca		olfactory receptor, family 5, subfamily T, member 3							98.0	96.0	96.0					11																	56019769		2201	4296	6497	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56019769C>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.94C>T	11.37:g.56019769C>T	ENSP00000305403:p.Pro32Ser	False	False		Somatic	0					p.P32S	NM_001004747.1	NP_001004747.1	WXS	Illumina HiSeq	Phase_I	Q8NGG3	OR5T3_HUMAN			1	94	+	Esophageal squamous(21;0.00448)		32					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.94C>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	0.416	-0.910669	0.02434	.	.	ENSG00000172489	ENST00000303059	T	0.02197	4.4	4.23	-0.0294	0.13918	.	4.020620	0.00871	U	0.002031	T	0.01222	0.0040	N	0.04705	-0.18	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.41893	-0.9483	10	0.07990	T	0.79	.	2.0557	0.03581	0.156:0.4868:0.1525:0.2047	.	32	Q8NGG3	OR5T3_HUMAN	S	32	ENSP00000305403:P32S	ENSP00000305403:P32S	P	+	1	0	OR5T3	55776345	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.396000	0.07278	0.131000	0.18576	-0.366000	0.07423	CCA		0.358	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	0	NM_001004747		11:56019769
C6orf195	154386	broad.mit.edu	37	6	2624100	2624100	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:2624100G>C	ENST00000296847.3	-	0	480					NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195											cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TTCTTATGTTGATTCTTCTAT	0.418																																						ENST00000296847.3		NA																	0				cervix(1)|endometrium(1)|lung(2)|skin(1)	5								chromosome 6 open reading frame 195							26.0	25.0	25.0					6																	2624100		1824	4027	5851			154386							g.chr6:2624100G>C	AK056496	CCDS43416.1	6p25.2	2008-10-21			ENSG00000164385	ENSG00000164385			21600	protein-coding gene	gene with protein product							Standard	NM_152554		Approved	FLJ31934, bA145H9.2	uc003mtw.2	Q96MT4	OTTHUMG00000014122	ENST00000296847.3:c.-44C>G	6.37:g.2624100G>C		False	False		Somatic	0						NM_152554.2	NP_689767.2	WXS	Illumina HiSeq	Phase_I	Q96MT4	CF195_HUMAN			0	480	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	NA					Q3SY08|Q3SY09|Q3SY10|Q5TAW4	Translation_Start_Site	SNP	ENST00000296847.3	37		CCDS43416.1																																																																																				0.418	C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039633.1	0	NM_152554		6:2624100
MUC5B	727897	broad.mit.edu	37	11	1268340	1268340	+	Silent	SNP	A	A	T	rs368194612		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:1268340A>T	ENST00000529681.1	+	31	10288	c.10230A>T	c.(10228-10230)ccA>ccT	p.P3410P	MUC5B_ENST00000447027.1_Silent_p.P3413P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3410	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cctcaactccagggacaactc	0.637																																						ENST00000447027.1		NA																	0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10237-10239)ccA>ccT		mucin 5B, oligomeric mucus/gel-forming							148.0	179.0	169.0					11																	1268340		2112	4168	6280	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268340A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10230A>T	11.37:g.1268340A>T		True	False		Somatic	0				MUC5B_ENST00000529681.1_Silent_p.P3410P|RP11-532E4.2_ENST00000532061.2_RNA	p.P3413P			WXS	Illumina HiSeq	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10297	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3410	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10239A>T	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	0	XM_001126093		11:1268340
KIF1B	23095	broad.mit.edu	37	1	10425187	10425187	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:10425187G>C	ENST00000377086.1	+	42	4598	c.4396G>C	c.(4396-4398)Gat>Cat	p.D1466H	KIF1B_ENST00000263934.6_Missense_Mutation_p.D1420H|KIF1B_ENST00000377081.1_Missense_Mutation_p.D1466H			O60333	KIF1B_HUMAN	kinesin family member 1B	1466					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAAAATCTTAGATACGTCAGT	0.448																																						ENST00000377086.1		NA																	0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(4396-4398)Gat>Cat		kinesin family member 1B							52.0	55.0	54.0					1																	10425187		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10425187G>C	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4396G>C	1.37:g.10425187G>C	ENSP00000366290:p.Asp1466His	False	False		Somatic	0				KIF1B_ENST00000263934.6_Missense_Mutation_p.D1420H|KIF1B_ENST00000377081.1_Missense_Mutation_p.D1466H	p.D1466H			WXS	Illumina HiSeq	Phase_I	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	42	4598	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1466					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4396G>C		.	.	.	.	.	.	.	.	.	.	G	27.4	4.828534	0.90955	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.80393	-1.27;-1.36;-1.37	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.89846	0.6833	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.996	D	0.90856	0.4735	10	0.87932	D	0	.	18.9755	0.92735	0.0:0.0:1.0:0.0	.	1452;1426;1466;1440;1466;1420	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	H	1466;1420;1466;1466	ENSP00000263934:D1420H;ENSP00000366290:D1466H;ENSP00000366284:D1466H	ENSP00000263934:D1420H	D	+	1	0	KIF1B	10347774	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	9.869000	0.99810	2.458000	0.83093	0.650000	0.86243	GAT		0.448	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1	0			1:10425187
BNC1	646	broad.mit.edu	37	15	83926674	83926674	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:83926674C>T	ENST00000345382.2	-	5	2590	c.2505G>A	c.(2503-2505)acG>acA	p.T835T	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.T828T	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	835					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGTGGACTTGCGTTATTGGGT	0.517																																						ENST00000345382.2		NA																	0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(2503-2505)acG>acA		basonuclin 1							121.0	104.0	109.0					15																	83926674		2203	4300	6503	SO:0001819	synonymous_variant	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83926674C>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2505G>A	15.37:g.83926674C>T		False	False		Somatic	0				RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.T828T	p.T835T	NM_001717.3	NP_001708.3	WXS	Illumina HiSeq	Phase_I	Q01954	BNC1_HUMAN			5	2590	-			835					Q15840	Silent	SNP	ENST00000345382.2	37	c.2505G>A	CCDS10324.1																																																																																				0.517	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	0	NM_001717		15:83926674
SLC25A6	293	broad.mit.edu	37	X	1508186	1508186	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:1508186C>T	ENST00000381401.5	-	2	1260	c.546G>A	c.(544-546)caG>caA	p.Q182Q	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	182					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TGATGATGCCCTGCACGGAGA	0.627																																						ENST00000381401.5		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(544-546)caG>caA		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						113.0	112.0	112.0					X																	1508186		2203	4296	6499	SO:0001819	synonymous_variant	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508186C>T	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.546G>A	X.37:g.1508186C>T		True	False		Somatic	0				SLC25A6_ENST00000475167.1_5'UTR	p.Q182Q	NM_001636.3	NP_001627.2	WXS	Illumina HiSeq	Phase_I	P12236	ADT3_HUMAN			2	1260	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	182					Q96C49	Silent	SNP	ENST00000381401.5	37	c.546G>A	CCDS14114.1																																																																																				0.627	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	0	NM_001636		X:1508186
DUOXA2	405753	broad.mit.edu	37	15	45406819	45406819	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:45406819G>A	ENST00000323030.5	+	1	301	c.16G>A	c.(16-18)Ggc>Agc	p.G6S	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	6					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CCTGTGGAACGGCGTACTGCC	0.632																																						ENST00000323030.5		NA																	0					NA						c.(16-18)Ggc>Agc		dual oxidase maturation factor 2							76.0	64.0	68.0					15																	45406819		2198	4298	6496	SO:0001583	missense	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45406819G>A	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.16G>A	15.37:g.45406819G>A	ENSP00000319705:p.Gly6Ser	False	False		Somatic	0					p.G6S	NM_207581.3	NP_997464.2	WXS	Illumina HiSeq	Phase_I	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	1	301	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	6					B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.16G>A	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836709	0.71373	.	.	ENSG00000140274	ENST00000323030;ENST00000350243	T	0.57752	0.38	4.98	4.06	0.47325	.	0.262703	0.39475	N	0.001347	T	0.54159	0.1841	L	0.32530	0.975	0.46185	D	0.998911	D	0.76494	0.999	P	0.56088	0.791	T	0.56001	-0.8051	10	0.52906	T	0.07	-18.908	12.4824	0.55852	0.0813:0.0:0.9186:0.0	.	6	Q1HG44	DOXA2_HUMAN	S	6	ENSP00000319705:G6S	ENSP00000319705:G6S	G	+	1	0	DUOXA2	43194111	1.000000	0.71417	0.040000	0.18447	0.274000	0.26718	5.890000	0.69774	1.231000	0.43661	0.591000	0.81541	GGC		0.632	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	0	NM_207581		15:45406819
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398285
KIF1B	23095	broad.mit.edu	37	1	10425500	10425500	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:10425500G>A	ENST00000377086.1	+	43	4748	c.4546G>A	c.(4546-4548)Gag>Aag	p.E1516K	KIF1B_ENST00000263934.6_Missense_Mutation_p.E1470K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E1516K			O60333	KIF1B_HUMAN	kinesin family member 1B	1516					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCTGCTGCGTGAGAGACTTGG	0.507																																						ENST00000377086.1		NA																	0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(4546-4548)Gag>Aag		kinesin family member 1B							74.0	73.0	74.0					1																	10425500		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10425500G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4546G>A	1.37:g.10425500G>A	ENSP00000366290:p.Glu1516Lys	True	False		Somatic	0				KIF1B_ENST00000263934.6_Missense_Mutation_p.E1470K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E1516K	p.E1516K			WXS	Illumina HiSeq	Phase_I	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	43	4748	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1516					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4546G>A		.	.	.	.	.	.	.	.	.	.	G	25.9	4.685715	0.88639	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.74106	-0.74;-0.81;-0.81	5.48	5.48	0.80851	.	0.109676	0.64402	D	0.000010	D	0.84880	0.5570	M	0.67397	2.05	0.80722	D	1	P;P;P;D;P;B	0.65815	0.627;0.954;0.485;0.995;0.856;0.241	B;P;B;D;B;B	0.67548	0.242;0.541;0.146;0.952;0.193;0.051	D	0.83946	0.0314	10	0.42905	T	0.14	.	19.3772	0.94517	0.0:0.0:1.0:0.0	.	1502;1476;1516;1490;1516;1470	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	K	1516;1470;1516;1516	ENSP00000263934:E1470K;ENSP00000366290:E1516K;ENSP00000366284:E1516K	ENSP00000263934:E1470K	E	+	1	0	KIF1B	10348087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.861000	0.99562	2.560000	0.86352	0.650000	0.86243	GAG		0.507	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1	0			1:10425500
FANCA	2175	broad.mit.edu	37	16	89838200	89838200	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:89838200C>T	ENST00000389301.3	-	23	2067	c.2037G>A	c.(2035-2037)gtG>gtA	p.V679V	FANCA_ENST00000568369.1_Silent_p.V679V|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	679					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTTCAGAAATCACTGCCACCT	0.527			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3		NA	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(2035-2037)gtG>gtA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							118.0	99.0	105.0					16																	89838200		2198	4300	6498	SO:0001819	synonymous_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89838200C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2037G>A	16.37:g.89838200C>T		False	False		Somatic	0				FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Silent_p.V679V	p.V679V	NM_000135.2	NP_000126.2	WXS	Illumina HiSeq	Phase_I	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	23	2067	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	679					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.2037G>A	CCDS32515.1																																																																																				0.527	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1	0			16:89838200
FAM183B	340286	broad.mit.edu	37	7	38725545	38725545	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:38725545G>A	ENST00000409072.3	-	2	995	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W				Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B	21								p.R21W(2)		endometrium(1)|lung(7)	8						TACAGCTCCCGCAAGATCTGG	0.577																																						ENST00000409072.3		NA																	2	Substitution - Missense(2)	p.R21W(2)	lung(2)	endometrium(1)|lung(7)	8						c.(61-63)Cgg>Tgg		family with sequence similarity 183, member B							96.0	99.0	98.0					7																	38725545		1974	4150	6124	SO:0001583	missense	340286							g.chr7:38725545G>A	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.61C>T	7.37:g.38725545G>A	ENSP00000386657:p.Arg21Trp	True	False		Somatic	0					p.R21W			WXS	Illumina HiSeq	Phase_I					2	995	-			NA					A4D1Y1	Missense_Mutation	SNP	ENST00000409072.3	37	c.61C>T		.	.	.	.	.	.	.	.	.	.	G	12.69	2.012918	0.35511	.	.	ENSG00000164556	ENST00000409072	.	.	.	0.9	-0.227	0.13102	.	0.452618	0.20718	N	0.086971	T	0.24661	0.0598	.	.	.	0.24891	N	0.992167	.	.	.	.	.	.	T	0.09840	-1.0656	6	0.37606	T	0.19	.	2.705	0.05159	0.4381:0.0:0.5618:0.0	.	.	.	.	W	21	.	ENSP00000386657:R21W	R	-	1	2	FAM183B	38692070	0.771000	0.28555	0.915000	0.36163	0.918000	0.54935	-0.070000	0.11523	0.308000	0.22923	0.313000	0.20887	CGG		0.577	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	0	NM_001105282		7:38725545
TCP11L1	55346	broad.mit.edu	37	11	33094069	33094069	+	Silent	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:33094069G>A	ENST00000334274.4	+	10	1777	c.1377G>A	c.(1375-1377)caG>caA	p.Q459Q	TCP11L1_ENST00000432887.1_Silent_p.Q459Q|TCP11L1_ENST00000324357.9_Silent_p.Q238Q|TCP11L1_ENST00000531632.2_Silent_p.Q459Q	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	459						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						CGGGTCATCAGAAGCCATTGC	0.463																																						ENST00000334274.4		NA																	0				kidney(1)|liver(2)|lung(2)|skin(1)	6						c.(1375-1377)caG>caA		t-complex 11, testis-specific-like 1							152.0	146.0	148.0					11																	33094069		2202	4298	6500	SO:0001819	synonymous_variant	55346							g.chr11:33094069G>A	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.1377G>A	11.37:g.33094069G>A		False	False		Somatic	0				TCP11L1_ENST00000324357.9_Silent_p.Q238Q|TCP11L1_ENST00000531632.2_Silent_p.Q459Q|TCP11L1_ENST00000432887.1_Silent_p.Q459Q	p.Q459Q	NM_018393.3	NP_060863.3	WXS	Illumina HiSeq	Phase_I	Q9NUJ3	T11L1_HUMAN			10	1777	+			459					D3DR01|Q8IVX4	Silent	SNP	ENST00000334274.4	37	c.1377G>A	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	G	8.692	0.907562	0.17833	.	.	ENSG00000176148	ENST00000528962	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	T	0.70919	0.3279	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69383	-0.5160	4	.	.	.	-34.9109	14.752	0.69533	0.0:0.1444:0.8556:0.0	.	.	.	.	K	75	.	.	E	+	1	0	TCP11L1	33050645	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.822000	0.48073	2.530000	0.85305	0.313000	0.20887	GAA		0.463	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	0	NM_018393		11:33094069
ENTHD1	150350	broad.mit.edu	37	22	40257992	40257992	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr22:40257992A>C	ENST00000325157.6	-	3	620	c.370T>G	c.(370-372)Tct>Gct	p.S124A		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	124	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ACTTGCTTAGATTTTTCCCGG	0.353																																						ENST00000325157.6		NA																	0				breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32						c.(370-372)Tct>Gct		ENTH domain containing 1							50.0	44.0	46.0					22																	40257992		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40257992A>C	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.370T>G	22.37:g.40257992A>C	ENSP00000317431:p.Ser124Ala	True	False		Somatic	0					p.S124A	NM_152512.3	NP_689725.2	WXS	Illumina HiSeq	Phase_I	Q8IYW4	ENTD1_HUMAN			3	620	-	Melanoma(58;0.0749)		124			ENTH.		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.370T>G	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990702	0.35131	.	.	ENSG00000176177	ENST00000325157	T	0.37058	1.22	6.17	5.12	0.69794	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.175744	0.40385	N	0.001101	T	0.17152	0.0412	N	0.01410	-0.885	0.28314	N	0.92253	B	0.30870	0.298	B	0.43728	0.429	T	0.43261	-0.9402	10	0.06099	T	0.92	-9.4664	9.6484	0.39881	0.845:0.0:0.0:0.155	.	124	Q8IYW4	ENTD1_HUMAN	A	124	ENSP00000317431:S124A	ENSP00000317431:S124A	S	-	1	0	ENTHD1	38587938	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	3.170000	0.50816	1.105000	0.41606	0.533000	0.62120	TCT		0.353	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	0	NM_152512		22:40257992
TTLL5	23093	broad.mit.edu	37	14	76330128	76330128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr14:76330128C>T	ENST00000298832.9	+	29	3650	c.3445C>T	c.(3445-3447)Caa>Taa	p.Q1149*	TTLL5_ENST00000554510.1_Nonsense_Mutation_p.Q658*|TTLL5_ENST00000557636.1_Nonsense_Mutation_p.Q1164*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.Q700*	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1149					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTATCAGCTTCAATTTGCCCT	0.522																																						ENST00000298832.9		NA																	0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(3445-3447)Caa>Taa		tubulin tyrosine ligase-like family, member 5							98.0	98.0	98.0					14																	76330128		2203	4300	6503	SO:0001587	stop_gained	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76330128C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3445C>T	14.37:g.76330128C>T	ENSP00000298832:p.Gln1149*	False	False		Somatic	0				TTLL5_ENST00000557636.1_Nonsense_Mutation_p.Q1164*|TTLL5_ENST00000554510.1_Nonsense_Mutation_p.Q658*|TTLL5_ENST00000556893.1_Nonsense_Mutation_p.Q700*	p.Q1149*	NM_015072.4	NP_055887.3	WXS	Illumina HiSeq	Phase_I	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	29	3650	+			1149					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Nonsense_Mutation	SNP	ENST00000298832.9	37	c.3445C>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	43	10.490315	0.99415	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	.	.	.	5.78	5.78	0.91487	.	0.432376	0.27424	N	0.019434	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	14.9992	0.71459	0.1417:0.8583:0.0:0.0	.	.	.	.	X	223;1164;1149;700;700;658	.	ENSP00000286653:Q223X	Q	+	1	0	TTLL5	75399881	0.991000	0.36638	0.999000	0.59377	0.945000	0.59286	2.927000	0.48900	2.894000	0.99253	0.655000	0.94253	CAA		0.522	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	0	NM_015072		14:76330128
ANGPTL7	10218	broad.mit.edu	37	1	11252354	11252354	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:11252354A>G	ENST00000376819.3	+	2	643	c.404A>G	c.(403-405)tAc>tGc	p.Y135C	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	135	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		TCTTCCCTCTACCAGAAGAAC	0.502																																						ENST00000376819.3		NA																	0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10						c.(403-405)tAc>tGc		angiopoietin-like 7							195.0	157.0	170.0					1																	11252354		2203	4300	6503	SO:0001583	missense	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11252354A>G	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.404A>G	1.37:g.11252354A>G	ENSP00000366015:p.Tyr135Cys	False	False		Somatic	0				MTOR_ENST00000361445.4_Intron	p.Y135C	NM_021146.2	NP_066969.1	WXS	Illumina HiSeq	Phase_I	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	2	643	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	135			Fibrinogen C-terminal.		B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	c.404A>G	CCDS128.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304749	0.81247	.	.	ENSG00000171819	ENST00000376819	T	0.77358	-1.09	6.17	6.17	0.99709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.162445	0.56097	D	0.000024	D	0.87075	0.6087	M	0.80508	2.5	0.54753	D	0.999986	D	0.69078	0.997	D	0.68353	0.957	D	0.87855	0.2660	10	0.54805	T	0.06	.	11.8437	0.52371	0.8695:0.0:0.0:0.1305	.	135	O43827	ANGL7_HUMAN	C	135	ENSP00000366015:Y135C	ENSP00000366015:Y135C	Y	+	2	0	ANGPTL7	11174941	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.667000	0.68067	2.371000	0.80710	0.533000	0.62120	TAC		0.502	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	0	NM_021146		1:11252354
FHOD3	80206	broad.mit.edu	37	18	34289290	34289290	+	Silent	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:34289290G>A	ENST00000359247.4	+	14	1893	c.1893G>A	c.(1891-1893)tcG>tcA	p.S631S	FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000445677.1_Silent_p.S610S|FHOD3_ENST00000590592.1_Silent_p.S823S|FHOD3_ENST00000257209.4_Silent_p.S648S|FHOD3_ENST00000591635.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	631	Poly-Ser.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCAGCGTCTCGTCCTCCAGCA	0.567																																						ENST00000257209.4		NA																	0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1942-1944)tcG>tcA		formin homology 2 domain containing 3							60.0	48.0	52.0					18																	34289290		2203	4300	6503	SO:0001819	synonymous_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34289290G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1893G>A	18.37:g.34289290G>A		False	False		Somatic	0				FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000359247.4_Silent_p.S631S|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Silent_p.S823S|FHOD3_ENST00000445677.1_Silent_p.S610S	p.S648S	NM_025135.2	NP_079411.2	WXS	Illumina HiSeq	Phase_I	Q2V2M9	FHOD3_HUMAN			15	2066	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	631					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37	c.1944G>A																																																																																					0.567	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	0	XM_371114		18:34289290
MXRA7	439921	broad.mit.edu	37	17	74681156	74681156	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr17:74681156C>G	ENST00000355797.3	-	3	506	c.498G>C	c.(496-498)caG>caC	p.Q166H	MXRA7_ENST00000592148.1_Missense_Mutation_p.Q209H|MXRA7_ENST00000375036.2_Missense_Mutation_p.Q166H|MXRA7_ENST00000585519.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000449428.2_Missense_Mutation_p.Q166H|MXRA7_ENST00000588114.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000589082.1_Missense_Mutation_p.Q11H	NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7	166						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CAGCCTACCTCTGCTCCTCCT	0.622																																						ENST00000355797.3		NA																	0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(496-498)caG>caC		matrix-remodelling associated 7							143.0	133.0	136.0					17																	74681156		2203	4300	6503	SO:0001583	missense	439921					integral to membrane		g.chr17:74681156C>G	BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534			7541	protein-coding gene	gene with protein product							Standard	XM_005257382		Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000355797.3:c.498G>C	17.37:g.74681156C>G	ENSP00000348050:p.Gln166His	False	False		Somatic	0				MXRA7_ENST00000589082.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000585519.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000592148.1_Missense_Mutation_p.Q209H|MXRA7_ENST00000375036.2_Missense_Mutation_p.Q166H|MXRA7_ENST00000588114.1_Missense_Mutation_p.Q11H|MXRA7_ENST00000449428.2_Missense_Mutation_p.Q166H	p.Q166H	NM_001008528.1	NP_001008528.1	WXS	Illumina HiSeq	Phase_I	P84157	MXRA7_HUMAN			3	506	-			166					Q0P5W3	Missense_Mutation	SNP	ENST00000355797.3	37	c.498G>C	CCDS32745.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573895	0.28092	.	.	ENSG00000182534	ENST00000355797;ENST00000449428;ENST00000375036;ENST00000392488	T;T;T	0.35236	1.32;1.32;1.32	5.27	1.74	0.24563	.	0.144210	0.46758	N	0.000267	T	0.21427	0.0516	N	0.25647	0.755	0.22629	N	0.998912	B;B;B	0.25390	0.125;0.063;0.063	B;B;B	0.26202	0.067;0.037;0.037	T	0.13150	-1.0520	10	0.49607	T	0.09	-18.8343	4.6255	0.12476	0.0:0.5361:0.1835:0.2804	.	166;166;166	P84157-2;P84157-3;P84157	.;.;MXRA7_HUMAN	H	166	ENSP00000348050:Q166H;ENSP00000391466:Q166H;ENSP00000364176:Q166H	ENSP00000348050:Q166H	Q	-	3	2	MXRA7	72192751	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.740000	0.26188	0.590000	0.29694	0.462000	0.41574	CAG		0.622	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450983.1	0	NM_001008529		17:74681156
SPTAN1	6709	broad.mit.edu	37	9	131386635	131386635	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:131386635C>G	ENST00000372731.4	+	45	5956	c.5846C>G	c.(5845-5847)tCa>tGa	p.S1949*	SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.S1954*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.S1954*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1949					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AACATCTCTTCAAAGATGAAG	0.527																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3		NA																	0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(5860-5862)tCa>tGa		spectrin, alpha, non-erythrocytic 1							70.0	62.0	65.0					9																	131386635		2203	4300	6503	SO:0001587	stop_gained	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131386635C>G	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5846C>G	9.37:g.131386635C>G	ENSP00000361816:p.Ser1949*	True	False		Somatic	0				SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.S1949*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.S1954*	p.S1954*	NM_001130438.2	NP_001123910.1	WXS	Illumina HiSeq	Phase_I	Q13813	SPTA2_HUMAN			46	5971	+			1949					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	c.5861C>G	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	46	12.783765	0.99696	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	.	.	.	5.23	4.32	0.51571	.	0.166830	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	14.3956	0.67007	0.0:0.9275:0.0:0.0725	.	.	.	.	X	1954;1949;1954;1929;198	.	ENSP00000350882:S1954X	S	+	2	0	SPTAN1	130426456	1.000000	0.71417	0.563000	0.28383	0.993000	0.82548	5.710000	0.68392	1.317000	0.45149	0.655000	0.94253	TCA		0.527	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	0	NM_003127		9:131386635
ALDH3A2	224	broad.mit.edu	37	17	19575061	19575061	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr17:19575061G>T	ENST00000176643.6	+	9	1681	c.1235G>T	c.(1234-1236)gGa>gTa	p.G412V	ALDH3A2_ENST00000581518.1_Missense_Mutation_p.G412V|ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.G412V|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.G412V|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.G412V			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	412			G -> R (in SLS). {ECO:0000269|PubMed:9829906}.		cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					GCTTATCACGGAAAACATAGT	0.413																																						ENST00000176643.6		NA																	0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13						c.(1234-1236)gGa>gTa		aldehyde dehydrogenase 3 family, member A2	NADH(DB00157)						112.0	112.0	112.0					17																	19575061		2203	4300	6503	SO:0001583	missense	224				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19575061G>T	L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.1235G>T	17.37:g.19575061G>T	ENSP00000176643:p.Gly412Val	True	False		Somatic	0				ALDH3A2_ENST00000395575.2_Missense_Mutation_p.G412V|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.G412V|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.G412V|ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.G412V	p.G412V			WXS	Illumina HiSeq	Phase_I	P51648	AL3A2_HUMAN			9	1681	+	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)		412		G -> R (in SLS).			Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	c.1235G>T	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	G	41	8.756577	0.98941	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.89123	-2.47;-2.47;-2.47	6.06	6.06	0.98353	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96543	0.8872	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96956	0.9698	10	0.87932	D	0	-23.5621	19.6125	0.95613	0.0:0.0:1.0:0.0	.	412;412	P51648;P51648-2	AL3A2_HUMAN;.	V	412	ENSP00000176643:G412V;ENSP00000378942:G412V;ENSP00000345774:G412V	ENSP00000176643:G412V	G	+	2	0	ALDH3A2	19515653	1.000000	0.71417	0.993000	0.49108	0.773000	0.43773	8.292000	0.89930	2.879000	0.98667	0.650000	0.86243	GGA		0.413	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1	0			17:19575061
YIPF7	285525	broad.mit.edu	37	4	44638040	44638040	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:44638040G>A	ENST00000332990.5	-	3	267	c.251C>T	c.(250-252)tCg>tTg	p.S84L	YIPF7_ENST00000415895.4_Missense_Mutation_p.S60L	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	84						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TGCGTAACCCGATGACATGAG	0.408																																						ENST00000415895.4		NA																	0				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						c.(178-180)tCg>tTg		Yip1 domain family, member 7							89.0	88.0	88.0					4																	44638040		1916	4145	6061	SO:0001583	missense	285525					endoplasmic reticulum membrane|integral to membrane		g.chr4:44638040G>A	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.251C>T	4.37:g.44638040G>A	ENSP00000332772:p.Ser84Leu	True	False		Somatic	0				YIPF7_ENST00000332990.5_Missense_Mutation_p.S84L	p.S60L			WXS	Illumina HiSeq	Phase_I	Q8N8F6	YIPF7_HUMAN			3	254	-			NA					Q3SY21|Q3SY22	Missense_Mutation	SNP	ENST00000332990.5	37	c.179C>T	CCDS54766.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207679	0.39003	.	.	ENSG00000177752	ENST00000332990	T	0.32023	1.47	5.02	5.02	0.67125	.	0.477948	0.20853	N	0.084492	T	0.33381	0.0861	L	0.60455	1.87	0.09310	N	1	P;B	0.43750	0.816;0.326	B;B	0.40134	0.32;0.069	T	0.26677	-1.0096	10	0.30078	T	0.28	-9.5458	17.5826	0.87972	0.0:0.0:1.0:0.0	.	84;84	Q8N8F6-4;Q8N8F6	.;YIPF7_HUMAN	L	84	ENSP00000332772:S84L	ENSP00000332772:S84L	S	-	2	0	YIPF7	44332797	0.978000	0.34361	0.165000	0.22776	0.058000	0.15608	2.196000	0.42686	2.636000	0.89361	0.650000	0.86243	TCG		0.408	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_182592		4:44638040
NT5C3B	115024	broad.mit.edu	37	17	39983731	39983731	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr17:39983731C>T	ENST00000435506.2	-	8	784	c.715G>A	c.(715-717)Gat>Aat	p.D239N	NT5C3B_ENST00000269534.8_Missense_Mutation_p.D231N|NT5C3B_ENST00000521789.1_Intron			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	239					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										GGAACCCCATCGGCCATGGTG	0.507																																						ENST00000269534.8		NA																	0					NA						c.(691-693)Gat>Aat		5'-nucleotidase, cytosolic IIIB							160.0	156.0	157.0					17																	39983731		2203	4300	6503	SO:0001583	missense	115024							g.chr17:39983731C>T		CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.715G>A	17.37:g.39983731C>T	ENSP00000389948:p.Asp239Asn	False	False		Somatic	0				NT5C3B_ENST00000435506.2_Missense_Mutation_p.D239N|NT5C3B_ENST00000521789.1_Intron	p.D231N	NM_052935.4	NP_443167.4	WXS	Illumina HiSeq	Phase_I					8	792	-			NA					A8MWB9|C9JKC4|Q7L3B7	Missense_Mutation	SNP	ENST00000435506.2	37	c.691G>A	CCDS11410.2	.	.	.	.	.	.	.	.	.	.	C	31	5.097530	0.94197	.	.	ENSG00000141698	ENST00000269534;ENST00000393911;ENST00000435506;ENST00000415460	D;D;D	0.83250	-1.7;-1.7;-1.7	5.28	4.32	0.51571	HAD-like domain (2);	0.048773	0.85682	D	0.000000	D	0.90256	0.6953	M	0.88310	2.945	0.58432	D	0.999999	D;D	0.63046	0.992;0.992	P;P	0.60173	0.87;0.87	D	0.89965	0.4089	10	0.31617	T	0.26	-17.3919	13.5393	0.61664	0.0:0.9246:0.0:0.0754	.	239;231	C9JKC4;Q969T7	.;5NT3L_HUMAN	N	231;273;239;209	ENSP00000269534:D231N;ENSP00000389948:D239N;ENSP00000397742:D209N	ENSP00000269534:D231N	D	-	1	0	NT5C3L	37237257	1.000000	0.71417	0.098000	0.21074	0.979000	0.70002	5.867000	0.69597	1.461000	0.47929	0.462000	0.41574	GAT		0.507	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	0	NM_052935		17:39983731
MDGA2	161357	broad.mit.edu	37	14	47504469	47504469	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr14:47504469A>T	ENST00000399232.2	-	8	1721	c.1357T>A	c.(1357-1359)Ttg>Atg	p.L453M	MDGA2_ENST00000426342.1_Missense_Mutation_p.L224M|MDGA2_ENST00000357362.3_Missense_Mutation_p.L224M|MDGA2_ENST00000439988.3_Missense_Mutation_p.L522M	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	453	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTGGTGACCAATGGTGATTTT	0.378																																						ENST00000426342.1		NA																	0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(670-672)Ttg>Atg		MAM domain containing glycosylphosphatidylinositol anchor 2							169.0	142.0	150.0					14																	47504469		1872	4104	5976	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504469A>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1357T>A	14.37:g.47504469A>T	ENSP00000382178:p.Leu453Met	False	False		Somatic	0				MDGA2_ENST00000439988.3_Missense_Mutation_p.L522M|MDGA2_ENST00000357362.3_Missense_Mutation_p.L224M|MDGA2_ENST00000399232.2_Missense_Mutation_p.L453M	p.L224M	NM_182830.3	NP_878250.2	WXS	Illumina HiSeq	Phase_I	Q7Z553	MDGA2_HUMAN			8	1416	-			453			Ig-like 2.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.670T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.99|10.99	1.506599|1.506599	0.26949|0.26949	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.|T;T;T;T	.|0.68624	.|-0.34;-0.34;-0.34;-0.34	5.52|5.52	1.83|1.83	0.25207|0.25207	.|Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.154328	.|0.28470	.|U	.|0.015227	T|T	0.50171|0.50171	0.1600|0.1600	L|L	0.33710|0.33710	1.025|1.025	0.80722|0.80722	D|D	1|1	.|B;B	.|0.33528	.|0.234;0.416	.|B;B	.|0.35114	.|0.087;0.196	T|T	0.37079|0.37079	-0.9721|-0.9721	5|10	.|0.52906	.|T	.|0.07	.|.	4.4546|4.4546	0.11637|0.11637	0.5216:0.0:0.3346:0.1439|0.5216:0.0:0.3346:0.1439	.|.	.|224;453	.|F6W3S7;Q7Z553	.|.;MDGA2_HUMAN	N|M	227|453;224;522;224	.|ENSP00000400011:L453M;ENSP00000405456:L224M;ENSP00000382178:L522M;ENSP00000349925:L224M	.|ENSP00000349925:L224M	I|L	-|-	2|1	0|2	MDGA2|MDGA2	46574219|46574219	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.971000|0.971000	0.66376|0.66376	1.154000|1.154000	0.31688|0.31688	0.068000|0.068000	0.16574|0.16574	-0.512000|-0.512000	0.04463|0.04463	ATT|TTG		0.378	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	0	NM_182830		14:47504469
DCAF8L2	347442	broad.mit.edu	37	X	27766766	27766766	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chrX:27766766G>A	ENST00000451261.2	+	5	2153	c.1754G>A	c.(1753-1755)cGt>cAt	p.R585H		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	585										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TTCCTCCTGCGTCACGTGACG	0.493																																						ENST00000451261.2		NA																	0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1753-1755)cGt>cAt		DDB1 and CUL4 associated factor 8-like 2							101.0	71.0	80.0					X																	27766766		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766766G>A		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1754G>A	X.37:g.27766766G>A	ENSP00000462745:p.Arg585His	False	False		Somatic	0					p.R585H	NM_001136533.1	NP_001130005.1	WXS	Illumina HiSeq	Phase_I					5	2153	+			NA					B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1754G>A	CCDS59162.1																																																																																				0.493	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	0	XM_293354		X:27766766
KCNA5	3741	broad.mit.edu	37	12	5155075	5155075	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:5155075G>A	ENST00000252321.3	+	1	1991	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	588					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GAAGTGTAACGTCAAGGCCAA	0.592																																						ENST00000252321.3		NA																	0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(1762-1764)Gtc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 5							39.0	39.0	39.0					12																	5155075		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5155075G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1762G>A	12.37:g.5155075G>A	ENSP00000252321:p.Val588Ile	False	False		Somatic	0					p.V588I	NM_002234.3	NP_002225.2	WXS	Illumina HiSeq	Phase_I	P22460	KCNA5_HUMAN			1	1991	+			588					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.1762G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	7.036	0.561517	0.13498	.	.	ENSG00000130037	ENST00000252321	D	0.97279	-4.32	5.5	3.64	0.41730	.	0.104471	0.38492	U	0.001664	D	0.87665	0.6234	N	0.01352	-0.895	0.21445	N	0.999687	B	0.06786	0.001	B	0.04013	0.001	T	0.78513	-0.2175	10	0.24483	T	0.36	.	9.733	0.40372	0.2849:0.5814:0.1337:0.0	.	588	P22460	KCNA5_HUMAN	I	588	ENSP00000252321:V588I	ENSP00000252321:V588I	V	+	1	0	KCNA5	5025336	0.990000	0.36364	1.000000	0.80357	0.936000	0.57629	0.640000	0.24705	0.668000	0.31126	-0.311000	0.09066	GTC		0.592	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	0	NM_002234		12:5155075
SMAD4	4089	broad.mit.edu	37	18	48604787	48604787	+	Missense_Mutation	SNP	G	G	C	rs377767385		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:48604787G>C	ENST00000342988.3	+	12	2147	c.1609G>C	c.(1609-1611)Gac>Cac	p.D537H	SMAD4_ENST00000398417.2_Missense_Mutation_p.D537H|SMAD4_ENST00000588745.1_Missense_Mutation_p.D441H|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	537	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.D537Y(3)|p.?(2)|p.L536fs*11(1)|p.L536fs*14(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCAGCTCCTAGACGAAGTACT	0.488																																						ENST00000342988.3		NA																	43	Whole gene deletion(36)|Substitution - Missense(3)|Deletion - Frameshift(2)|Unknown(2)	p.0?(36)|p.D537Y(3)|p.?(2)|p.L536fs*11(1)|p.L536fs*14(1)	pancreas(26)|large_intestine(7)|lung(3)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1609-1611)Gac>Cac		SMAD family member 4							79.0	82.0	81.0					18																	48604787		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604787G>C	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1609G>C	18.37:g.48604787G>C	ENSP00000341551:p.Asp537His	False	False		Somatic	0				SMAD4_ENST00000398417.2_Missense_Mutation_p.D537H|SMAD4_ENST00000588745.1_Missense_Mutation_p.D441H|SMAD4_ENST00000586253.1_3'UTR	p.D537H	NM_005359.5	NP_005350.1	WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2147	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	537			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1609G>C	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921809	0.73213	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98075	-4.7;-4.7	6.07	6.07	0.98685	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.000000	0.85682	D	0.000000	D	0.99133	0.9701	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99323	1.0907	10	0.87932	D	0	.	19.4308	0.94765	0.0:0.0:1.0:0.0	.	537	Q13485	SMAD4_HUMAN	H	537	ENSP00000341551:D537H;ENSP00000381452:D537H	ENSP00000341551:D537H	D	+	1	0	SMAD4	46858785	1.000000	0.71417	0.972000	0.41901	0.957000	0.61999	9.633000	0.98432	2.885000	0.99019	0.655000	0.94253	GAC		0.488	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48604787
PPBPP2	10895	broad.mit.edu	37	4	74919842	74919842	+	RNA	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:74919842G>C	ENST00000513150.1	-	0	1274					NR_026769.1				pro-platelet basic protein pseudogene 2																		CCATCTTACAGAGTGGCTCTG	0.413																																						ENST00000513150.1		NA																	0					NA																																														0							g.chr4:74919842G>C	L10403		4q13.3	2012-04-20	2012-04-20	2012-04-20	ENSG00000248848	ENSG00000248848			16981	pseudogene	pseudogene		611591	"""pro-platelet basic protein-like 2"""	PPBPL2		7887923	Standard	NR_026769		Approved	SPBPBP	uc010iim.1		OTTHUMG00000160862		4.37:g.74919842G>C		False	False		Somatic	0						NR_026769.1		WXS	Illumina HiSeq	Phase_I					0	1274	-			NA						RNA	SNP	ENST00000513150.1	37																																																																																						0.413	PPBPP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000362726.1	0			4:74919842
THSD4	79875	broad.mit.edu	37	15	71704038	71704038	+	Missense_Mutation	SNP	G	G	A	rs183837037		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:71704038G>A	ENST00000355327.3	+	7	1162	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	THSD4_ENST00000261862.6_Missense_Mutation_p.R343H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	343					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAAGGCAATCGCAAATGTGAG	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		18190	0.001		0.0	False		,,,				2504	0.0					ENST00000355327.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1027-1029)cGc>cAc		thrombospondin, type I, domain containing 4							50.0	48.0	49.0					15																	71704038		1950	4153	6103	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71704038G>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1028G>A	15.37:g.71704038G>A	ENSP00000347484:p.Arg343His	False	False		Somatic	0				THSD4_ENST00000261862.6_Missense_Mutation_p.R343H	p.R343H			WXS	Illumina HiSeq	Phase_I	Q6ZMP0	THSD4_HUMAN			7	1162	+			343					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1028G>A	CCDS10238.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.95	2.390891	0.42410	.	.	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.71817	-0.6;-0.6	5.47	3.37	0.38596	.	0.225081	0.38605	N	0.001633	T	0.54532	0.1864	N	0.13168	0.305	0.27987	N	0.935816	D;B	0.59357	0.985;0.013	P;B	0.49683	0.619;0.003	T	0.51608	-0.8684	10	0.54805	T	0.06	.	2.8813	0.05648	0.2513:0.0:0.5304:0.2183	.	343;343	Q6ZMP0-2;Q6ZMP0	.;THSD4_HUMAN	H	343	ENSP00000347484:R343H;ENSP00000261862:R343H	ENSP00000261862:R343H	R	+	2	0	THSD4	69491092	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	1.507000	0.35758	1.324000	0.45282	-0.142000	0.14014	CGC		0.423	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	0	NM_024817		15:71704038
SORCS3	22986	broad.mit.edu	37	10	106924113	106924113	+	Silent	SNP	C	C	T	rs547019749		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr10:106924113C>T	ENST00000369701.3	+	12	2012	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	595					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCATCTCCTCCGATGGGGGCA	0.433													c|||	1	0.000199681	0.0	0.0	5008	,	,		18208	0.001		0.0	False		,,,				2504	0.0				NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3		NA																	0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1783-1785)tcC>tcT		sortilin-related VPS10 domain containing receptor 3							105.0	95.0	98.0					10																	106924113		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106924113C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1785C>T	10.37:g.106924113C>T		False	False		Somatic	0					p.S595S	NM_014978.1	NP_055793.1	WXS	Illumina HiSeq	Phase_I	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	12	2012	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	595					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.1785C>T	CCDS7558.1																																																																																				0.433	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	0	NM_014978		10:106924113
NXPE4	54827	broad.mit.edu	37	11	114453438	114453438	+	Silent	SNP	G	G	A	rs73557425	byFrequency	TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:114453438G>A	ENST00000375478.3	-	3	582	c.402C>T	c.(400-402)ggC>ggT	p.G134G	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	134						extracellular vesicular exosome (GO:0070062)											GGAAATCCCCGCCATATTGCT	0.582													g|||	9	0.00179712	0.0061	0.0	5008	,	,		21741	0.001		0.0	False		,,,				2504	0.0					ENST00000375478.3		NA																	0					NA						c.(400-402)ggC>ggT		neurexophilin and PC-esterase domain family, member 4		G	,	23,4363		0,23,2170	82.0	86.0	85.0		402,	-10.0	0.1	11	dbSNP_130	85	1,8587		0,1,4293	no	coding-synonymous,intron	FAM55D	NM_001077639.1,NM_017678.2	,	0,24,6463	AA,AG,GG		0.0116,0.5244,0.185	,	134/545,	114453438	24,12950	2193	4294	6487	SO:0001819	synonymous_variant	54827							g.chr11:114453438G>A	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.402C>T	11.37:g.114453438G>A		True	False		Somatic	0				NXPE4_ENST00000424261.2_Intron	p.G134G	NM_001077639.1	NP_001071107.1	WXS	Illumina HiSeq	Phase_I					3	582	-			NA					Q6QDB4|Q9NXP5	Silent	SNP	ENST00000375478.3	37	c.402C>T	CCDS41718.1																																																																																				0.582	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	0	NM_017678		11:114453438
RBBP8	5932	broad.mit.edu	37	18	20516852	20516852	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:20516852C>G	ENST00000399722.2	+	2	389	c.38C>G	c.(37-39)tCt>tGt	p.S13C	RBBP8_ENST00000399725.2_Missense_Mutation_p.S13C|RBBP8_ENST00000327155.5_Missense_Mutation_p.S13C|RBBP8_ENST00000360790.5_Missense_Mutation_p.S13C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	13					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AGCCCTAACTCTGCAGATACA	0.358								Homologous recombination																														ENST00000399722.2		NA																	0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(37-39)tCt>tGt	Homologous recombination	retinoblastoma binding protein 8							154.0	154.0	154.0					18																	20516852		2203	4300	6503	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20516852C>G	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.38C>G	18.37:g.20516852C>G	ENSP00000382628:p.Ser13Cys	False	False		Somatic	0				RBBP8_ENST00000399725.2_Missense_Mutation_p.S13C|RBBP8_ENST00000327155.5_Missense_Mutation_p.S13C|RBBP8_ENST00000360790.5_Missense_Mutation_p.S13C	p.S13C	NM_203291.1	NP_976036.1	WXS	Illumina HiSeq	Phase_I	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		2	389	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		13					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.38C>G	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322656	0.81580	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.45276	1.16;0.9;1.16;0.93;1.16	5.42	5.42	0.78866	.	0.144596	0.48286	D	0.000188	T	0.64450	0.2599	M	0.66939	2.045	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	T	0.67150	-0.5743	10	0.87932	D	0	-13.2429	17.4189	0.87508	0.0:1.0:0.0:0.0	.	13;13;13	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	C	13	ENSP00000323050:S13C;ENSP00000382630:S13C;ENSP00000382628:S13C;ENSP00000382627:S13C;ENSP00000354024:S13C	ENSP00000323050:S13C	S	+	2	0	RBBP8	18770850	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.710000	0.54860	2.525000	0.85131	0.655000	0.94253	TCT		0.358	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	0	NM_203291		18:20516852
LMTK3	114783	broad.mit.edu	37	19	49000674	49000674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr19:49000674G>A	ENST00000600059.1	-	11	3879	c.3652C>T	c.(3652-3654)Cag>Tag	p.Q1218*	LMTK3_ENST00000270238.3_Nonsense_Mutation_p.Q1247*			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1218	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTGTTCCCCTGAGGGGGTCCC	0.662																																						ENST00000600059.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(3652-3654)Cag>Tag		lemur tyrosine kinase 3							47.0	54.0	51.0					19																	49000674		2088	4200	6288	SO:0001587	stop_gained	114783							g.chr19:49000674G>A	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.3652C>T	19.37:g.49000674G>A	ENSP00000472020:p.Gln1218*	False	False		Somatic	0				LMTK3_ENST00000270238.3_Nonsense_Mutation_p.Q1247*	p.Q1218*			WXS	Illumina HiSeq	Phase_I				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	3879	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	NA					Q4G0U1	Nonsense_Mutation	SNP	ENST00000600059.1	37	c.3652C>T		.	.	.	.	.	.	.	.	.	.	G	42	9.180309	0.99091	.	.	ENSG00000142235	ENST00000270238	.	.	.	3.8	3.8	0.43715	.	0.399027	0.19919	N	0.103125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	11.3704	0.49696	0.0:0.0:1.0:0.0	.	.	.	.	X	1247	.	ENSP00000270238:Q1247X	Q	-	1	0	LMTK3	53692486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.540000	0.45727	2.134000	0.65973	0.563000	0.77884	CAG		0.662	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	0	NM_052895		19:49000674
DMP1	1758	broad.mit.edu	37	4	88583249	88583249	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:88583249G>T	ENST00000339673.6	+	6	418	c.319G>T	c.(319-321)Gat>Tat	p.D107Y	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D91Y|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	107					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGACGATGAAGATGACAGTGG	0.507																																						ENST00000339673.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(319-321)Gat>Tat		dentin matrix acidic phosphoprotein 1							90.0	86.0	88.0					4																	88583249		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88583249G>T	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.319G>T	4.37:g.88583249G>T	ENSP00000340935:p.Asp107Tyr	False	False		Somatic	0				RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D91Y|RP11-742B18.1_ENST00000507894.1_RNA	p.D107Y	NM_004407.3	NP_004398.1	WXS	Illumina HiSeq	Phase_I	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	418	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	107					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.319G>T	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677163	0.47886	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.60171	0.21;0.21	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000023	T	0.72479	0.3465	L	0.54323	1.7	0.47862	D	0.99953	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75071	-0.3447	10	0.87932	D	0	-12.8053	16.6154	0.84909	0.0:0.0:1.0:0.0	.	91;107	Q13316-2;Q13316	.;DMP1_HUMAN	Y	107;91	ENSP00000340935:D107Y;ENSP00000282479:D91Y	ENSP00000282479:D91Y	D	+	1	0	DMP1	88802273	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	6.210000	0.72176	2.457000	0.83068	0.455000	0.32223	GAT		0.507	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1	0			4:88583249
INPP5F	22876	broad.mit.edu	37	10	121510593	121510593	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr10:121510593G>A	ENST00000361976.2	+	2	269	c.103G>A	c.(103-105)Gat>Aat	p.D35N	INPP5F_ENST00000369083.3_Missense_Mutation_p.D35N	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTTAGCTACTGATCTACTTCT	0.328											OREG0020583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361976.2		NA																	0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(103-105)Gat>Aat		inositol polyphosphate-5-phosphatase F							188.0	173.0	178.0					10																	121510593		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121510593G>A	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.103G>A	10.37:g.121510593G>A	ENSP00000354519:p.Asp35Asn	False	False		Somatic	0	OREG0020583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1512	INPP5F_ENST00000369083.3_Missense_Mutation_p.D35N	p.D35N	NM_014937.3	NP_055752.1	WXS	Illumina HiSeq	Phase_I	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	2	269	+		Lung NSC(174;0.109)|all_lung(145;0.142)	35					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.103G>A	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981610	0.93044	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.58797	0.81;0.31	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	L	0.59436	1.845	0.80722	D	1	D;D	0.67145	0.988;0.996	P;D	0.79784	0.815;0.993	T	0.73395	-0.3996	10	0.59425	D	0.04	-30.4133	19.4436	0.94836	0.0:0.0:1.0:0.0	.	35;35	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	N	35	ENSP00000354519:D35N;ENSP00000358079:D35N	ENSP00000354519:D35N	D	+	1	0	INPP5F	121500583	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	7.483000	0.81158	2.894000	0.99253	0.591000	0.81541	GAT		0.328	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	0	NM_014937		10:121510593
PRIM1	5557	broad.mit.edu	37	12	57144844	57144844	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:57144844A>G	ENST00000338193.6	-	2	275	c.239T>C	c.(238-240)aTa>aCa	p.I80T	HSD17B6_ENST00000555159.1_5'Flank|HSD17B6_ENST00000555805.1_5'Flank|PRIM1_ENST00000552408.1_5'UTR|HSD17B6_ENST00000554643.1_5'Flank|HSD17B6_ENST00000554150.1_5'Flank	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	80					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						TACTGCGCCTATATCAATCTT	0.328																																						ENST00000338193.6		NA																	0				kidney(1)|lung(6)|prostate(1)	8						c.(238-240)aTa>aCa		primase, DNA, polypeptide 1 (49kDa)							105.0	89.0	94.0					12																	57144844		1815	4068	5883	SO:0001583	missense	5557				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	g.chr12:57144844A>G	BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.239T>C	12.37:g.57144844A>G	ENSP00000350491:p.Ile80Thr	False	False		Somatic	0				PRIM1_ENST00000552408.1_5'UTR	p.I80T	NM_000946.2	NP_000937.1	WXS	Illumina HiSeq	Phase_I	P49642	PRI1_HUMAN			2	275	-			80						Missense_Mutation	SNP	ENST00000338193.6	37	c.239T>C	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350526	0.82132	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	T;T	0.55052	0.54;0.6	5.16	5.16	0.70880	.	0.049442	0.85682	D	0.000000	T	0.77532	0.4144	M	0.92880	3.355	0.80722	D	1	D;D	0.65815	0.995;0.971	D;P	0.69142	0.962;0.821	T	0.82989	-0.0183	10	0.59425	D	0.04	-11.0372	14.3283	0.66534	1.0:0.0:0.0:0.0	.	80;80	F8VSB2;P49642	.;PRI1_HUMAN	T	80;80;83	ENSP00000350491:I80T;ENSP00000450185:I83T	ENSP00000350491:I80T	I	-	2	0	PRIM1	55431111	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	8.801000	0.91905	2.100000	0.63781	0.454000	0.30748	ATA		0.328	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	0	NM_000946		12:57144844
TRIML1	339976	broad.mit.edu	37	4	189060986	189060986	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:189060986C>A	ENST00000332517.3	+	1	414	c.274C>A	c.(274-276)Cag>Aag	p.Q92K	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	92					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CGAGGATGAGCAGGGCAGCTA	0.647																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3		NA																	0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(274-276)Cag>Aag		tripartite motif family-like 1							44.0	43.0	43.0					4																	189060986		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060986C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.274C>A	4.37:g.189060986C>A	ENSP00000327738:p.Gln92Lys	False	False		Somatic	0					p.Q92K	NM_178556.3	NP_848651.2	WXS	Illumina HiSeq	Phase_I	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	414	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	92					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.274C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	3.439	-0.114406	0.06881	.	.	ENSG00000184108	ENST00000332517	T	0.61274	0.12	5.19	3.32	0.38043	.	0.645692	0.13834	N	0.359532	T	0.41465	0.1160	L	0.47716	1.5	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.35822	-0.9773	10	0.05959	T	0.93	-6.5751	5.7084	0.17921	0.1928:0.7101:0.0:0.0971	.	92	Q8N9V2	TRIML_HUMAN	K	92	ENSP00000327738:Q92K	ENSP00000327738:Q92K	Q	+	1	0	TRIML1	189297980	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.461000	0.06712	1.512000	0.48834	0.655000	0.94253	CAG		0.647	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	0	NM_178556		4:189060986
CDH11	1009	broad.mit.edu	37	16	64981819	64981819	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:64981819C>T	ENST00000268603.4	-	13	2693	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	CDH11_ENST00000566827.1_Missense_Mutation_p.R567H|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	693					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GATGTCTTTGCGGGGGATAAA	0.488			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000268603.4		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(2077-2079)cGc>cAc		cadherin 11, type 2, OB-cadherin (osteoblast)							140.0	135.0	137.0					16																	64981819		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64981819C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2078G>A	16.37:g.64981819C>T	ENSP00000268603:p.Arg693His	True	False	TSP Lung(24;0.17)	Somatic	0				CDH11_ENST00000566827.1_Missense_Mutation_p.R567H|CDH11_ENST00000394156.3_3'UTR	p.R693H	NM_001797.2	NP_001788.2	WXS	Illumina HiSeq	Phase_I	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	13	2693	-		Ovarian(137;0.0973)	693					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.2078G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591103	0.86851	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.78924	-1.22	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.90549	0.7038	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91017	0.4854	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	693	P55287	CAD11_HUMAN	H	693;676	ENSP00000268603:R693H	ENSP00000268603:R693H	R	-	2	0	CDH11	63539320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC		0.488	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	0	NM_033664		16:64981819
FAM135B	51059	broad.mit.edu	37	8	139180258	139180258	+	Missense_Mutation	SNP	G	G	A	rs370662790		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr8:139180258G>A	ENST00000395297.1	-	12	1308	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	380										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCGAGTTCCGGATATCCAGG	0.597										HNSCC(54;0.14)																												ENST00000395297.1		NA																	0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1138-1140)Cgg>Tgg		family with sequence similarity 135, member B							102.0	110.0	107.0					8																	139180258		2112	4226	6338	SO:0001583	missense	51059							g.chr8:139180258G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1138C>T	8.37:g.139180258G>A	ENSP00000378710:p.Arg380Trp	False	False	HNSCC(54;0.14)	Somatic	0					p.R380W	NM_015912.3	NP_056996.2	WXS	Illumina HiSeq	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	1308	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		380					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1138C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644994	0.67358	.	.	ENSG00000147724	ENST00000395297	D	0.90676	-2.71	5.66	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.95169	0.8434	M	0.80982	2.52	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.95690	0.8739	10	0.87932	D	0	-19.8469	14.775	0.69724	0.0:0.0:0.8544:0.1456	.	380	Q49AJ0	F135B_HUMAN	W	380	ENSP00000378710:R380W	ENSP00000276737:R380W	R	-	1	2	FAM135B	139249440	1.000000	0.71417	0.858000	0.33744	0.238000	0.25445	3.644000	0.54381	1.460000	0.47911	0.655000	0.94253	CGG		0.597	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	0	NM_015912		8:139180258
SMU1	55234	broad.mit.edu	37	9	33068870	33068870	+	Silent	SNP	G	G	A	rs113018466		TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19589	0.0		0.0	False		,,,				2504	0.0					ENST00000397149.3		NA																	0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(451-453)ggC>ggT		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)		G		10,4396	17.9+/-39.9	0,10,2193	191.0	152.0	166.0		453	-0.1	1.0	9	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	SMU1	NM_018225.2		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		151/514	33068870	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33068870G>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.453C>T	9.37:g.33068870G>A		False	False		Somatic	0				SMU1_ENST00000536631.1_5'UTR	p.G151G	NM_018225.2	NP_060695.2	WXS	Illumina HiSeq	Phase_I	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	4	503	-			151					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.453C>T	CCDS6534.1																																																																																				0.507	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	0	NM_018225		9:33068870
KIF1B	23095	broad.mit.edu	37	1	10425167	10425167	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:10425167G>C	ENST00000377086.1	+	42	4578	c.4376G>C	c.(4375-4377)aGa>aCa	p.R1459T	KIF1B_ENST00000263934.6_Missense_Mutation_p.R1413T|KIF1B_ENST00000377081.1_Missense_Mutation_p.R1459T			O60333	KIF1B_HUMAN	kinesin family member 1B	1459					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGTATGCAGAGAAGGAGAAGA	0.393																																						ENST00000377086.1		NA																	0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(4375-4377)aGa>aCa		kinesin family member 1B							45.0	48.0	47.0					1																	10425167		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10425167G>C	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4376G>C	1.37:g.10425167G>C	ENSP00000366290:p.Arg1459Thr	True	False		Somatic	0				KIF1B_ENST00000263934.6_Missense_Mutation_p.R1413T|KIF1B_ENST00000377081.1_Missense_Mutation_p.R1459T	p.R1459T			WXS	Illumina HiSeq	Phase_I	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	42	4578	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1459					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4376G>C		.	.	.	.	.	.	.	.	.	.	G	28.4	4.919984	0.92249	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.77620	-1.01;-1.11;-1.11	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.87196	0.6117	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.991;1.0;0.981	D;D;D;D;D;D	0.85130	0.997;0.996;0.996;0.992;0.997;0.943	D	0.88273	0.2931	10	0.87932	D	0	.	18.9755	0.92735	0.0:0.0:1.0:0.0	.	1445;1419;1459;1433;1459;1413	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	T	1459;1413;1459;1459	ENSP00000263934:R1413T;ENSP00000366290:R1459T;ENSP00000366284:R1459T	ENSP00000263934:R1413T	R	+	2	0	KIF1B	10347754	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.458000	0.83093	0.650000	0.86243	AGA		0.393	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1	0			1:10425167
SPHK2	56848	broad.mit.edu	37	19	49129495	49129495	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr19:49129495C>T	ENST00000245222.4	+	3	753	c.387C>T	c.(385-387)cgC>cgT	p.R129R	SPHK2_ENST00000599748.1_Silent_p.R93R|SPHK2_ENST00000600537.1_Silent_p.R70R|SPHK2_ENST00000599029.1_Silent_p.R93R|SPHK2_ENST00000599033.1_3'UTR|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000443164.1_Silent_p.R191R|SPHK2_ENST00000601712.1_Silent_p.R93R|SPHK2_ENST00000340932.3_Silent_p.R93R|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000598088.1_Silent_p.R129R|AC022154.7_ENST00000594850.1_RNA	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	129	Required for binding to sulfatide and phosphoinositides and for membrane localization.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		gggcccggcgcAGAGCCACTC	0.701																																						ENST00000443164.1		NA																	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(571-573)cgC>cgT		sphingosine kinase 2							8.0	9.0	9.0					19																	49129495		2089	4122	6211	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49129495C>T	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.387C>T	19.37:g.49129495C>T		False	False		Somatic	0				SPHK2_ENST00000245222.4_Silent_p.R129R|SPHK2_ENST00000599033.1_3'UTR|SPHK2_ENST00000599029.1_Silent_p.R93R|SPHK2_ENST00000598088.1_Silent_p.R129R|SPHK2_ENST00000599748.1_Silent_p.R93R|SPHK2_ENST00000601712.1_Silent_p.R93R|SPHK2_ENST00000600537.1_Silent_p.R70R|SPHK2_ENST00000340932.3_Silent_p.R93R	p.R191R			WXS	Illumina HiSeq	Phase_I	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	1	1278	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	129			DAGKc.		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.573C>T	CCDS12727.1																																																																																				0.701	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1	0			19:49129495
AKAP13	11214	broad.mit.edu	37	15	86212982	86212982	+	Silent	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:86212982T>C	ENST00000394518.2	+	14	5117	c.5022T>C	c.(5020-5022)ttT>ttC	p.F1674F	AKAP13_ENST00000361243.2_Silent_p.F1678F|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1674					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGCAGGGATTTAATTACTGTA	0.348																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2		NA																	0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(5020-5022)ttT>ttC		A kinase (PRKA) anchor protein 13							151.0	141.0	145.0					15																	86212982		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86212982T>C	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5022T>C	15.37:g.86212982T>C		True	False		Somatic	0				AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.F1678F|RP11-815J21.4_ENST00000558980.1_RNA	p.F1674F	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	WXS	Illumina HiSeq	Phase_I	Q12802	AKP13_HUMAN			14	5117	+			1674					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.5022T>C	CCDS32319.1																																																																																				0.348	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	NM_007200		15:86212982
ANKRD28	23243	broad.mit.edu	37	3	15718557	15718557	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:15718557C>T	ENST00000399451.2	-	26	3074	c.2707G>A	c.(2707-2709)Gaa>Aaa	p.E903K	ANKRD28_ENST00000383777.1_Missense_Mutation_p.E936K|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	903						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCACTAGTTTCATGACCCTAT	0.358																																						ENST00000399451.2		NA																	0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(2707-2709)Gaa>Aaa		ankyrin repeat domain 28							146.0	138.0	141.0					3																	15718557		1878	4121	5999	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15718557C>T	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.2707G>A	3.37:g.15718557C>T	ENSP00000382379:p.Glu903Lys	True	False		Somatic	0				ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.E936K	p.E903K	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	WXS	Illumina HiSeq	Phase_I	O15084	ANR28_HUMAN			26	3074	-			903					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.2707G>A	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	35	5.496535	0.96355	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.64991	-0.13;-0.13;-0.13	5.38	5.38	0.77491	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	L	0.35341	1.055	0.80722	D	1	P	0.51791	0.948	P	0.56343	0.796	T	0.55347	-0.8155	10	0.06365	T	0.9	.	19.4958	0.95072	0.0:1.0:0.0:0.0	.	903	O15084	ANR28_HUMAN	K	903;936;903	ENSP00000382379:E903K;ENSP00000373287:E936K;ENSP00000397341:E903K	ENSP00000373287:E936K	E	-	1	0	ANKRD28	15693561	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.647000	0.83462	2.681000	0.91329	0.650000	0.86243	GAA		0.358	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	0	NM_015199		3:15718557
GPR12	2835	broad.mit.edu	37	13	27333003	27333003	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr13:27333003G>A	ENST00000381436.2	-	1	1424	c.962C>T	c.(961-963)cCg>cTg	p.P321L	GPR12_ENST00000405846.3_Missense_Mutation_p.P321L			P47775	GPR12_HUMAN	G protein-coupled receptor 12	321					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GAGACTGGACGGGATGCAGCC	0.557																																						ENST00000405846.3		NA																	0				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(961-963)cCg>cTg		G protein-coupled receptor 12							79.0	79.0	79.0					13																	27333003		2203	4300	6503	SO:0001583	missense	0					integral to plasma membrane		g.chr13:27333003G>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.962C>T	13.37:g.27333003G>A	ENSP00000370844:p.Pro321Leu	True	False		Somatic	0				GPR12_ENST00000381436.2_Missense_Mutation_p.P321L	p.P321L	NM_005288.3	NP_005279.1	WXS	Illumina HiSeq	Phase_I	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	1183	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	321					Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.962C>T	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896130	0.72639	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.36157	1.27;1.27	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	L	0.58101	1.795	0.80722	D	1	D	0.53885	0.963	B	0.43082	0.407	T	0.44787	-0.9305	10	0.62326	D	0.03	.	19.3487	0.94376	0.0:0.0:1.0:0.0	.	321	P47775	GPR12_HUMAN	L	321	ENSP00000384932:P321L;ENSP00000370844:P321L	ENSP00000370844:P321L	P	-	2	0	GPR12	26231003	1.000000	0.71417	0.819000	0.32651	0.982000	0.71751	9.739000	0.98837	2.594000	0.87642	0.511000	0.50034	CCG		0.557	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2	0			13:27333003
SLC2A9	56606	broad.mit.edu	37	4	9998478	9998478	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr4:9998478T>C	ENST00000264784.3	-	3	390	c.337A>G	c.(337-339)Act>Gct	p.T113A	SLC2A9_ENST00000309065.3_Missense_Mutation_p.T84A|SLC2A9_ENST00000506583.1_Missense_Mutation_p.T84A	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	113					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	ATGGACACAGTCACAGACCAG	0.468																																						ENST00000506583.1		NA																	0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(250-252)Act>Gct		solute carrier family 2 (facilitated glucose transporter), member 9							145.0	124.0	131.0					4																	9998478		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9998478T>C	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.337A>G	4.37:g.9998478T>C	ENSP00000264784:p.Thr113Ala	False	False		Somatic	0				SLC2A9_ENST00000309065.3_Missense_Mutation_p.T84A|SLC2A9_ENST00000264784.3_Missense_Mutation_p.T113A	p.T84A			WXS	Illumina HiSeq	Phase_I	Q9NRM0	GTR9_HUMAN			5	467	-			113					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.250A>G	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.790410	0.70337	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;T	0.79845	0.4;-0.84;0.4;-1.31	5.21	5.21	0.72293	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.107675	0.64402	D	0.000007	T	0.81517	0.4839	L	0.33485	1.01	0.40360	D	0.979237	P;P	0.47191	0.891;0.846	P;P	0.59546	0.72;0.859	T	0.80339	-0.1424	9	.	.	.	.	11.9036	0.52697	0.0:0.0:0.0:1.0	.	84;113	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	A	84;113;84;84	ENSP00000422209:T84A;ENSP00000264784:T113A;ENSP00000311383:T84A;ENSP00000426800:T84A	.	T	-	1	0	SLC2A9	9607576	1.000000	0.71417	0.990000	0.47175	0.946000	0.59487	4.346000	0.59367	2.136000	0.66102	0.524000	0.50904	ACT		0.468	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1	0			4:9998478
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000462215.1_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368389.2_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368392.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892					cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|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)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL																																	ENST00000368395.1		NA		Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10						c.(334-336)Acc>Ccc		mucin 1, cell surface associated																																				SO:0001583	missense	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155161799T>G	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.334A>C	1.37:g.155161799T>G	ENSP00000357380:p.Thr112Pro	True	False		Somatic	0				MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000342482.4_Intron	p.T112P	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	WXS	Illumina HiSeq	Phase_I	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	405	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		892					A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Missense_Mutation	SNP	ENST00000368395.1	37	c.334A>C	CCDS55640.1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808546	0.16467	.	.	ENSG00000185499	ENST00000368395;ENST00000425082	T	0.20200	2.09	2.73	0.35	0.16037	.	2.188600	0.02617	N	0.102742	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	0.999999	D	0.65815	0.995	D	0.68483	0.958	T	0.17684	-1.0361	10	0.39692	T	0.17	.	3.1844	0.06596	0.0:0.2782:0.2183:0.5034	.	112	P15941	MUC1_HUMAN	P	112	ENSP00000357380:T112P	ENSP00000357380:T112P	T	-	1	0	MUC1	153428423	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.417000	0.07088	0.027000	0.15297	-1.038000	0.02383	ACC		0.711	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	0	NM_002456		1:155161799
MARK1	4139	broad.mit.edu	37	1	220752846	220752846	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:220752846A>C	ENST00000366917.4	+	2	468	c.202A>C	c.(202-204)Aag>Cag	p.K68Q	MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000366918.4_Missense_Mutation_p.K68Q|MARK1_ENST00000485104.1_3'UTR					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AACAATAGGGAAGGGAAATTT	0.433																																						ENST00000366918.4		NA																	0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(202-204)Aag>Cag		MAP/microtubule affinity-regulating kinase 1							94.0	89.0	90.0					1																	220752846		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220752846A>C	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.202A>C	1.37:g.220752846A>C	ENSP00000355884:p.Lys68Gln	True	False		Somatic	0				MARK1_ENST00000366917.4_Missense_Mutation_p.K68Q|MARK1_ENST00000485104.1_3'UTR|MARK1_ENST00000402574.1_5'UTR	p.K68Q			WXS	Illumina HiSeq	Phase_I	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	2	799	+			68			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.202A>C	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	A	29.7	5.032418	0.93575	.	.	ENSG00000116141	ENST00000366918;ENST00000366917	T;T	0.65364	1.78;-0.15	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	N	0.16567	0.415	0.80722	D	1	P;D;D	0.69078	0.895;0.985;0.997	B;P;P	0.61592	0.313;0.681;0.891	T	0.70622	-0.4821	10	0.87932	D	0	.	16.0789	0.80985	1.0:0.0:0.0:0.0	.	68;68;68	B4DIB3;Q9P0L2;Q9P0L2-3	.;MARK1_HUMAN;.	Q	68	ENSP00000355885:K68Q;ENSP00000355884:K68Q	ENSP00000355884:K68Q	K	+	1	0	MARK1	218819469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.192000	0.70111	0.460000	0.39030	AAG		0.433	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1	0			1:220752846
KRTAP10-2	386679	broad.mit.edu	37	21	45971155	45971155	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr21:45971155C>T	ENST00000391621.1	-	1	233	c.187G>A	c.(187-189)Gag>Aag	p.E63K	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	63	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						GCGCTGGGCTCACAGGCCGCC	0.711																																						ENST00000391621.1		NA																	0				large_intestine(1)|lung(4)|skin(1)	6						c.(187-189)Gag>Aag		keratin associated protein 10-2							33.0	38.0	36.0					21																	45971155		2197	4287	6484	SO:0001583	missense	386679					keratin filament		g.chr21:45971155C>T	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.187G>A	21.37:g.45971155C>T	ENSP00000375479:p.Glu63Lys	False	False		Somatic	0				TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	p.E63K	NM_198693.2	NP_941966.1	WXS	Illumina HiSeq	Phase_I	P60368	KR102_HUMAN			1	233	-			63			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	c.187G>A	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	c	6.060	0.379382	0.11466	.	.	ENSG00000205445	ENST00000391621	T	0.00691	5.84	2.06	2.06	0.26882	.	.	.	.	.	T	0.00695	0.0023	L	0.47716	1.5	0.21950	N	0.999454	P	0.41232	0.743	B	0.23716	0.048	T	0.53049	-0.8493	9	0.37606	T	0.19	.	7.4261	0.27100	0.0:1.0:0.0:0.0	.	63	P60368	KR102_HUMAN	K	63	ENSP00000375479:E63K	ENSP00000375479:E63K	E	-	1	0	KRTAP10-2	44795583	0.726000	0.28059	0.264000	0.24511	0.040000	0.13550	2.369000	0.44231	0.652000	0.30806	0.306000	0.20318	GAG		0.711	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1	0			21:45971155
LCE1E	353135	broad.mit.edu	37	1	152759802	152759802	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:152759802G>T	ENST00000368770.3	+	2	80	c.27G>T	c.(25-27)caG>caT	p.Q9H	LCE1E_ENST00000368771.1_Missense_Mutation_p.Q9H	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	9	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCAGCAGTGCCAGCCCC	0.602																																						ENST00000368770.3		NA																	0				lung(5)|stomach(1)	6						c.(25-27)caG>caT		late cornified envelope 1E							116.0	123.0	120.0					1																	152759802		2203	4300	6503	SO:0001583	missense	353135				keratinization			g.chr1:152759802G>T	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.27G>T	1.37:g.152759802G>T	ENSP00000357759:p.Gln9His	True	False		Somatic	0				LCE1E_ENST00000368771.1_Missense_Mutation_p.Q9H	p.Q9H	NM_178353.1	NP_848130.1	WXS	Illumina HiSeq	Phase_I	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	80	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		9			Cys-rich.		D3DV30	Missense_Mutation	SNP	ENST00000368770.3	37	c.27G>T	CCDS1024.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366615	0.24771	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.05786	3.39;3.39	4.06	3.14	0.36123	.	0.000000	0.31859	N	0.006957	T	0.08313	0.0207	M	0.87682	2.9	0.24548	N	0.994037	P	0.40794	0.729	P	0.47705	0.555	T	0.02950	-1.1090	10	0.87932	D	0	.	6.9793	0.24694	0.1244:0.0:0.8756:0.0	.	9	Q5T753	LCE1E_HUMAN	H	9	ENSP00000357760:Q9H;ENSP00000357759:Q9H	ENSP00000357759:Q9H	Q	+	3	2	LCE1E	151026426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.234000	0.32660	2.237000	0.73441	0.514000	0.50259	CAG		0.602	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	0	NM_178353		1:152759802
RNPEP	6051	broad.mit.edu	37	1	201966573	201966573	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:201966573C>T	ENST00000295640.4	+	5	1024	c.981C>T	c.(979-981)atC>atT	p.I327I	RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RNPEP_ENST00000367286.3_Silent_p.I288I|RP11-465N4.5_ENST00000608886.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	327					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCCATGAGATCTCCCACAGTT	0.542																																					GBM(19;39 479 7473 13131 19462)	ENST00000295640.4		NA																	0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(979-981)atC>atT		arginyl aminopeptidase (aminopeptidase B)							122.0	108.0	113.0					1																	201966573		2203	4300	6503	SO:0001819	synonymous_variant	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201966573C>T	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.981C>T	1.37:g.201966573C>T		False	False		Somatic	0				RNPEP_ENST00000367286.3_Silent_p.I288I|RNPEP_ENST00000471105.1_3'UTR	p.I327I	NM_020216.3	NP_064601.3	WXS	Illumina HiSeq	Phase_I	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	5	1024	+			327					Q9BVM9|Q9H1D4|Q9NPT7	Silent	SNP	ENST00000295640.4	37	c.981C>T	CCDS1418.1																																																																																				0.542	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	0	NM_020216		1:201966573
ZER1	10444	broad.mit.edu	37	9	131513437	131513437	+	Silent	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:131513437G>A	ENST00000291900.2	-	7	1555	c.1149C>T	c.(1147-1149)cgC>cgT	p.R383R	snoU13_ENST00000459043.1_RNA|ZER1_ENST00000494461.1_5'Flank	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	383					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						AACGCTCGATGCGGGCGATGT	0.627																																						ENST00000291900.2		NA																	0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(1147-1149)cgC>cgT		zyg-11 related, cell cycle regulator							60.0	51.0	54.0					9																	131513437		2203	4300	6503	SO:0001819	synonymous_variant	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131513437G>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1149C>T	9.37:g.131513437G>A		False	False		Somatic	0					p.R383R	NM_006336.2	NP_006327.2	WXS	Illumina HiSeq	Phase_I	Q7Z7L7	ZER1_HUMAN			7	1555	-			383					O00156|Q5T272|Q5T273	Silent	SNP	ENST00000291900.2	37	c.1149C>T	CCDS6910.1																																																																																				0.627	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	0	NM_006336		9:131513437
FBXO40	51725	broad.mit.edu	37	3	121345596	121345596	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:121345596G>A	ENST00000338040.4	+	4	2383	c.1969G>A	c.(1969-1971)Gtc>Atc	p.V657I		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	657					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTTTAATGAAGTCACCTCCAT	0.458																																						ENST00000338040.4		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1969-1971)Gtc>Atc		F-box protein 40							151.0	151.0	151.0					3																	121345596		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121345596G>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1969G>A	3.37:g.121345596G>A	ENSP00000337510:p.Val657Ile	False	False		Somatic	0					p.V657I	NM_016298.3	NP_057382.2	WXS	Illumina HiSeq	Phase_I	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	4	2383	+			657					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.1969G>A	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451162	0.43531	.	.	ENSG00000163833	ENST00000338040	T	0.30714	1.52	6.17	5.3	0.74995	F-box domain, Skp2-like (1);	0.244440	0.40144	N	0.001170	T	0.20333	0.0489	L	0.28608	0.87	0.37080	D	0.898954	B	0.31318	0.319	B	0.30105	0.111	T	0.07046	-1.0793	10	0.06494	T	0.89	-14.5867	13.5664	0.61822	0.0747:0.0:0.9253:0.0	.	657	Q9UH90	FBX40_HUMAN	I	657	ENSP00000337510:V657I	ENSP00000337510:V657I	V	+	1	0	FBXO40	122828286	0.692000	0.27719	0.985000	0.45067	0.990000	0.78478	1.954000	0.40362	1.626000	0.50381	0.655000	0.94253	GTC		0.458	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	0	NM_016298		3:121345596
KRT4	3851	broad.mit.edu	37	12	53202606	53202606	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:53202606C>G	ENST00000551956.1	-	5	1355	c.863G>C	c.(862-864)aGc>aCc	p.S288T	KRT4_ENST00000458244.2_Missense_Mutation_p.S268T|KRT4_ENST00000293774.4_Missense_Mutation_p.S362T			P19013	K2C4_HUMAN	keratin 4	302	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GGACGTGTCGCTGACATGGGT	0.577																																					Pancreas(190;284 2995 41444 45903)	ENST00000551956.1		NA																	0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(862-864)aGc>aCc		keratin 4							87.0	80.0	83.0					12																	53202606		2203	4300	6503	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53202606C>G		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.863G>C	12.37:g.53202606C>G	ENSP00000448220:p.Ser288Thr	False	False		Somatic	0				KRT4_ENST00000458244.2_Missense_Mutation_p.S268T|KRT4_ENST00000293774.4_Missense_Mutation_p.S362T	p.S288T			WXS	Illumina HiSeq	Phase_I	B4DRS2	B4DRS2_HUMAN			5	1355	-			288					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.863G>C	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346494	0.24426	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;T;D	0.88975	-2.45;-1.16;-2.45	5.75	1.28	0.21552	Filament (1);	0.601484	0.14726	N	0.302055	D	0.93109	0.7806	M	0.83012	2.62	0.09310	N	1	P	0.46277	0.875	P	0.49953	0.627	D	0.88388	0.3006	10	0.87932	D	0	.	22.2785	0.99969	0.0:0.2887:0.7113:0.0	.	302	P19013	K2C4_HUMAN	T	288;362;268	ENSP00000448220:S288T;ENSP00000293774:S362T;ENSP00000387904:S268T	ENSP00000293774:S362T	S	-	2	0	KRT4	51488873	0.954000	0.32549	0.007000	0.13788	0.290000	0.27261	1.644000	0.37228	0.329000	0.23460	0.655000	0.94253	AGC		0.577	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	0	NM_002272		12:53202606
ARHGAP15	55843	broad.mit.edu	37	2	143913143	143913143	+	Silent	SNP	C	C	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr2:143913143C>A	ENST00000295095.6	+	2	251	c.84C>A	c.(82-84)atC>atA	p.I28I	ARHGAP15_ENST00000409869.1_Silent_p.I28I	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	28					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAATGAGAATCAAAAATGCCA	0.448																																						ENST00000409869.1		NA																	0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(82-84)atC>atA		Rho GTPase activating protein 15							96.0	84.0	88.0					2																	143913143		2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143913143C>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.84C>A	2.37:g.143913143C>A		True	False		Somatic	0				ARHGAP15_ENST00000295095.6_Silent_p.I28I	p.I28I			WXS	Illumina HiSeq	Phase_I	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	3	261	+			28					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.84C>A	CCDS2184.1																																																																																				0.448	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	0	NM_018460		2:143913143
MBTPS1	8720	broad.mit.edu	37	16	84120998	84120998	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:84120998T>C	ENST00000343411.3	-	9	1594	c.1099A>G	c.(1099-1101)Atc>Gtc	p.I367V	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	367	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGCGGGCGATGTTATCTTCA	0.408																																						ENST00000343411.3		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1099-1101)Atc>Gtc		membrane-bound transcription factor peptidase, site 1							110.0	103.0	105.0					16																	84120998		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84120998T>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1099A>G	16.37:g.84120998T>C	ENSP00000344223:p.Ile367Val	False	False		Somatic	0				MBTPS1_ENST00000569770.1_5'UTR	p.I367V	NM_003791.2	NP_003782.1	WXS	Illumina HiSeq	Phase_I	Q14703	MBTP1_HUMAN			9	1594	-			367			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.1099A>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997441	0.54147	.	.	ENSG00000140943	ENST00000343411	T	0.38887	1.11	5.26	5.26	0.73747	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	N	0.12569	0.235	0.80722	D	1	B	0.34103	0.437	P	0.44422	0.449	T	0.36456	-0.9747	10	0.44086	T	0.13	-27.4813	15.4764	0.75485	0.0:0.0:0.0:1.0	.	367	Q14703	MBTP1_HUMAN	V	367	ENSP00000344223:I367V	ENSP00000344223:I367V	I	-	1	0	MBTPS1	82678499	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.972000	0.88022	2.113000	0.64589	0.460000	0.39030	ATC		0.408	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	0	NM_003791		16:84120998
PALMD	54873	broad.mit.edu	37	1	100111897	100111897	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:100111897G>C	ENST00000263174.4	+	1	399	c.24G>C	c.(22-24)aaG>aaC	p.K8N	PALMD_ENST00000605497.1_Missense_Mutation_p.K8N	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	8					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGCTGGTGAAGGGAAGACTCC	0.517																																						ENST00000263174.4		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(22-24)aaG>aaC		palmdelphin							115.0	109.0	111.0					1																	100111897		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100111897G>C	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.24G>C	1.37:g.100111897G>C	ENSP00000263174:p.Lys8Asn	True	False		Somatic	0				PALMD_ENST00000605497.1_Missense_Mutation_p.K8N	p.K8N	NM_017734.4	NP_060204.1	WXS	Illumina HiSeq	Phase_I	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	1	399	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	8					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.24G>C	CCDS758.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631881	0.46944	.	.	ENSG00000099260	ENST00000263174	T	0.22945	1.93	5.52	3.66	0.41972	.	0.171232	0.49916	D	0.000127	T	0.23133	0.0559	L	0.59436	1.845	0.53005	D	0.999967	D	0.54047	0.964	P	0.52672	0.706	T	0.02603	-1.1135	10	0.87932	D	0	-11.1216	9.9661	0.41725	0.2732:0.0:0.7268:0.0	.	8	Q9NP74	PALMD_HUMAN	N	8	ENSP00000263174:K8N	ENSP00000263174:K8N	K	+	3	2	PALMD	99884485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.717000	0.47227	0.702000	0.31825	0.561000	0.74099	AAG		0.517	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	0	NM_017734		1:100111897
ARIH1	25820	broad.mit.edu	37	15	72858942	72858942	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:72858942G>A	ENST00000379887.4	+	8	1264	c.950G>A	c.(949-951)tGt>tAt	p.C317Y		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	317					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						CCTGTTAAATGTAAGGTGAGT	0.318																																						ENST00000379887.4		NA																	0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(949-951)tGt>tAt		ariadne RBR E3 ubiquitin protein ligase 1							210.0	206.0	208.0					15																	72858942		2198	4297	6495	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72858942G>A	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.950G>A	15.37:g.72858942G>A	ENSP00000369217:p.Cys317Tyr	False	False		Somatic	0					p.C317Y	NM_005744.3	NP_005735.2	WXS	Illumina HiSeq	Phase_I	Q9Y4X5	ARI1_HUMAN			8	1264	+			317					B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.950G>A	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572572	0.86542	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.94280	-3.39	5.27	5.27	0.74061	Zinc finger, C6HC-type (2);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.99026	4.405	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.99809	1.1040	10	0.87932	D	0	.	18.9619	0.92680	0.0:0.0:1.0:0.0	.	317	Q9Y4X5	ARI1_HUMAN	Y	317;287	ENSP00000369217:C317Y	ENSP00000299305:C287Y	C	+	2	0	ARIH1	70645996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.204000	0.95041	2.460000	0.83146	0.644000	0.83932	TGT		0.318	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	0	NM_005744		15:72858942
PKD1L1	168507	broad.mit.edu	37	7	47869028	47869028	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr7:47869028C>G	ENST00000289672.2	-	44	6780	c.6730G>C	c.(6730-6732)Gaa>Caa	p.E2244Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2244					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTTACTTTTTCAACCTCGCCT	0.408																																						ENST00000289672.2		NA																BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(6730-6732)Gaa>Caa		polycystic kidney disease 1 like 1							69.0	76.0	73.0					7																	47869028		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47869028C>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6730G>C	7.37:g.47869028C>G	ENSP00000289672:p.Glu2244Gln	True	False		Somatic	0					p.E2244Q	NM_138295.3	NP_612152.1	WXS	Illumina HiSeq	Phase_I	Q8TDX9	PK1L1_HUMAN			44	6780	-			2244					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.6730G>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247339	0.39697	.	.	ENSG00000158683	ENST00000289672	T	0.20200	2.09	4.11	3.2	0.36748	.	1.614660	0.03691	N	0.247120	T	0.27933	0.0688	L	0.59436	1.845	0.09310	N	1	P	0.51933	0.949	B	0.43331	0.416	T	0.24584	-1.0156	10	0.44086	T	0.13	-3.216	9.4856	0.38928	0.0:0.7832:0.2168:0.0	.	2244	Q8TDX9	PK1L1_HUMAN	Q	2244	ENSP00000289672:E2244Q	ENSP00000289672:E2244Q	E	-	1	0	PKD1L1	47835553	0.006000	0.16342	0.026000	0.17262	0.179000	0.23085	1.491000	0.35583	0.905000	0.36596	0.563000	0.77884	GAA		0.408	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	0	NM_138295		7:47869028
ITGAL	3683	broad.mit.edu	37	16	30505643	30505643	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:30505643G>A	ENST00000356798.6	+	12	1504	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.G359R	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	442					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCCACAGGGCGGAGGACACTG	0.647																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6		NA																	0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1324-1326)Gga>Aga		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						44.0	44.0	44.0					16																	30505643		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30505643G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1324G>A	16.37:g.30505643G>A	ENSP00000349252:p.Gly442Arg	False	False		Somatic	0				ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.G359R|ITGAL_ENST00000568012.1_3'UTR	p.G442R	NM_002209.2	NP_002200.2	WXS	Illumina HiSeq	Phase_I	P20701	ITAL_HUMAN			12	1504	+			442					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.1324G>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671567	0.29693	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.10860	2.83;2.83	5.67	-11.3	0.00108	.	2.121790	0.01509	N	0.017858	T	0.07007	0.0178	L	0.31157	0.91	0.09310	N	1	B;B	0.16802	0.015;0.019	B;B	0.11329	0.004;0.006	T	0.09079	-1.0691	10	0.25751	T	0.34	.	9.7973	0.40742	0.0953:0.1684:0.6527:0.0836	.	359;442	Q96HB1;P20701	.;ITAL_HUMAN	R	442;359	ENSP00000349252:G442R;ENSP00000350886:G359R	ENSP00000349252:G442R	G	+	1	0	ITGAL	30413144	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.357000	0.07651	-2.335000	0.00629	-1.012000	0.02466	GGA		0.647	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2	0			16:30505643
GREB1	9687	broad.mit.edu	37	2	11742547	11742547	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr2:11742547C>T	ENST00000381486.2	+	17	2845	c.2545C>T	c.(2545-2547)Cat>Tat	p.H849Y	GREB1_ENST00000234142.5_Missense_Mutation_p.H849Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	849						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGACTTATATCATGAAAATAA	0.507																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2		NA																	0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(2545-2547)Cat>Tat		growth regulation by estrogen in breast cancer 1							152.0	152.0	152.0					2																	11742547		1901	4137	6038	SO:0001583	missense	9687					integral to membrane		g.chr2:11742547C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2545C>T	2.37:g.11742547C>T	ENSP00000370896:p.His849Tyr	False	False		Somatic	0				GREB1_ENST00000234142.5_Missense_Mutation_p.H849Y	p.H849Y	NM_014668.3	NP_055483.2	WXS	Illumina HiSeq	Phase_I	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	17	2845	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		849					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.2545C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984251	0.53827	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.47869	0.83;0.83;0.83	5.64	5.64	0.86602	.	0.252735	0.39020	N	0.001498	T	0.45155	0.1328	L	0.50333	1.59	0.80722	D	1	B;P	0.40875	0.429;0.731	B;B	0.37091	0.241;0.241	T	0.33777	-0.9855	10	0.29301	T	0.29	-41.315	19.6906	0.95999	0.0:1.0:0.0:0.0	.	483;849	C9JIG0;Q4ZG55	.;GREB1_HUMAN	Y	849;849;483	ENSP00000370896:H849Y;ENSP00000234142:H849Y;ENSP00000403886:H483Y	ENSP00000234142:H849Y	H	+	1	0	GREB1	11659998	1.000000	0.71417	0.113000	0.21522	0.687000	0.40016	5.669000	0.68081	2.649000	0.89929	0.655000	0.94253	CAT		0.507	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	0	NM_014668		2:11742547
PLEKHH2	130271	broad.mit.edu	37	2	43965587	43965587	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr2:43965587G>C	ENST00000282406.4	+	20	3161	c.3051G>C	c.(3049-3051)caG>caC	p.Q1017H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1017	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGAGCTGCAGAATGAAATTT	0.393																																						ENST00000282406.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3049-3051)caG>caC		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							92.0	94.0	94.0					2																	43965587		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43965587G>C	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3051G>C	2.37:g.43965587G>C	ENSP00000282406:p.Gln1017His	False	False		Somatic	0					p.Q1017H	NM_172069.3	NP_742066.2	WXS	Illumina HiSeq	Phase_I	Q8IVE3	PKHH2_HUMAN			20	3161	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1017			MyTH4.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3051G>C	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516918	0.64634	.	.	ENSG00000152527	ENST00000282406	D	0.91792	-2.91	5.53	3.74	0.42951	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	M	0.82517	2.595	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94785	0.7957	10	0.87932	D	0	-15.4565	9.9364	0.41554	0.2346:0.0:0.7654:0.0	.	1017;454	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	H	1017	ENSP00000282406:Q1017H	ENSP00000282406:Q1017H	Q	+	3	2	PLEKHH2	43819091	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.416000	0.52707	0.707000	0.31934	0.561000	0.74099	CAG		0.393	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	0	NM_172069		2:43965587
MAST4	375449	broad.mit.edu	37	5	66461307	66461307	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr5:66461307G>C	ENST00000403625.2	+	29	6595	c.6300G>C	c.(6298-6300)gaG>gaC	p.E2100D	MAST4_ENST00000261569.7_Missense_Mutation_p.E1906D|MAST4_ENST00000404260.3_Missense_Mutation_p.E2103D|MAST4_ENST00000405643.1_Missense_Mutation_p.E1921D|MAST4_ENST00000403666.1_Missense_Mutation_p.E1911D	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2103						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTGAGAGTGAGAAGAGTGAAA	0.562																																						ENST00000404260.3		NA																	0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6307-6309)gaG>gaC		microtubule associated serine/threonine kinase family member 4							43.0	53.0	50.0					5																	66461307		1994	4164	6158	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461307G>C	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6300G>C	5.37:g.66461307G>C	ENSP00000385727:p.Glu2100Asp	False	False		Somatic	0				MAST4_ENST00000403666.1_Missense_Mutation_p.E1911D|MAST4_ENST00000403625.2_Missense_Mutation_p.E2100D|MAST4_ENST00000261569.7_Missense_Mutation_p.E1906D|MAST4_ENST00000405643.1_Missense_Mutation_p.E1921D	p.E2103D			WXS	Illumina HiSeq	Phase_I	O15021	MAST4_HUMAN		Lung(70;0.011)	29	6617	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2103					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.6309G>C	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.68|10.68	1.417754|1.417754	0.25552|0.25552	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|T	0.65732|0.04360	-0.15;-0.15;-0.17;-0.17;-0.15|3.64	4.58|4.58	0.327|0.327	0.15913|0.15913	.|.	1.030320|1.030320	0.07702|0.07702	N|N	0.940481|0.940481	T|T	0.03477|0.03477	0.0100|0.0100	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.47911|0.47911	-0.9080|-0.9080	10|8	0.06099|0.30078	T|T	0.92|0.28	-0.9085|-0.9085	3.6607|3.6607	0.08237|0.08237	0.0968:0.4337:0.2813:0.1881|0.0968:0.4337:0.2813:0.1881	.|.	2103;1911|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	D|Q	2103;2100;1911;1921;1921;1906|1157	ENSP00000385048:E2103D;ENSP00000385727:E2100D;ENSP00000384313:E1911D;ENSP00000384099:E1921D;ENSP00000261569:E1906D|ENSP00000400551:E1157Q	ENSP00000261569:E1906D|ENSP00000400551:E1157Q	E|E	+|+	3|1	2|0	MAST4|MAST4	66497063|66497063	0.000000|0.000000	0.05858|0.05858	0.017000|0.017000	0.16124|0.16124	0.605000|0.605000	0.37080|0.37080	-0.771000|-0.771000	0.04699|0.04699	0.151000|0.151000	0.19162|0.19162	-0.145000|-0.145000	0.13849|0.13849	GAG|GAA		0.562	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2	0			5:66461307
EPG5	57724	broad.mit.edu	37	18	43460178	43460178	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr18:43460178C>T	ENST00000282041.5	-	32	5563	c.5529G>A	c.(5527-5529)gaG>gaA	p.E1843E	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1843					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCAGAAGCTGCTCCGCGGAGC	0.592											OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000282041.5		NA																	0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(5527-5529)gaG>gaA		ectopic P-granules autophagy protein 5 homolog (C. elegans)							10.0	12.0	11.0					18																	43460178		1859	4061	5920	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43460178C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5529G>A	18.37:g.43460178C>T		False	False		Somatic	0	OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	916	EPG5_ENST00000585906.1_5'UTR	p.E1843E	NM_020964.2	NP_066015.2	WXS	Illumina HiSeq	Phase_I	Q9HCE0	EPG5_HUMAN			32	5563	-			1843					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.5529G>A	CCDS11926.2																																																																																				0.592	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	0	NM_020964		18:43460178
FBXO45	200933	broad.mit.edu	37	3	196311085	196311085	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr3:196311085G>A	ENST00000311630.6	+	3	1054	c.757G>A	c.(757-759)Gct>Act	p.A253T	FBXO45_ENST00000440469.1_Missense_Mutation_p.A74T	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	253	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCTGGGGGTTGCTTTTAGAGG	0.418																																						ENST00000311630.6		NA																	0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(757-759)Gct>Act		F-box protein 45							123.0	121.0	121.0					3																	196311085		1860	4087	5947	SO:0001583	missense	200933				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding	g.chr3:196311085G>A	AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.757G>A	3.37:g.196311085G>A	ENSP00000310332:p.Ala253Thr	False	False		Somatic	0				FBXO45_ENST00000440469.1_Missense_Mutation_p.A74T	p.A253T	NM_001105573.1	NP_001099043.1	WXS	Illumina HiSeq	Phase_I	P0C2W1	FBSP1_HUMAN	Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	3	1054	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		253			B30.2/SPRY.		A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	37	c.757G>A	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629998	0.87660	.	.	ENSG00000174013	ENST00000440469;ENST00000311630	T;T	0.60548	0.18;0.18	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82756	-0.0300	10	0.87932	D	0	-10.3492	18.7709	0.91892	0.0:0.0:1.0:0.0	.	253	P0C2W1	FBSP1_HUMAN	T	74;253	ENSP00000389868:A74T;ENSP00000310332:A253T	ENSP00000310332:A253T	A	+	1	0	FBXO45	197795482	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.985000	0.93487	2.740000	0.93945	0.563000	0.77884	GCT		0.418	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2	0			3:196311085
TOX2	84969	broad.mit.edu	37	20	42694633	42694633	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr20:42694633C>T	ENST00000358131.5	+	6	1396	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Silent_p.G414G|TOX2_ENST00000423191.2_Silent_p.G372G|TOX2_ENST00000372999.1_Silent_p.G372G	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	396	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACGCCCAGGGCGCCCTCCTCA	0.711																																						ENST00000358131.5		NA																	0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(1186-1188)ggC>ggT		TOX high mobility group box family member 2							26.0	29.0	28.0					20																	42694633		2202	4297	6499	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694633C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1188C>T	20.37:g.42694633C>T		True	False		Somatic	0				TOX2_ENST00000423191.2_Silent_p.G372G|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Silent_p.G414G|TOX2_ENST00000372999.1_Silent_p.G372G	p.G396G	NM_001098798.1	NP_001092268.1	WXS	Illumina HiSeq	Phase_I	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1396	+		Myeloproliferative disorder(115;0.00452)	396			Pro-rich.		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.1188C>T	CCDS42875.1																																																																																				0.711	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	0			20:42694633
ESAM	90952	broad.mit.edu	37	11	124626110	124626110	+	Silent	SNP	T	T	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr11:124626110T>C	ENST00000278927.5	-	4	729	c.600A>G	c.(598-600)ccA>ccG	p.P200P	RP11-677M14.3_ENST00000504932.2_RNA|ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	200	Ig-like C2-type.				blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CACCTAATGCTGGTGCAAAGA	0.562																																						ENST00000278927.5		NA																	0				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(598-600)ccA>ccG		endothelial cell adhesion molecule							58.0	51.0	54.0					11																	124626110		2201	4299	6500	SO:0001819	synonymous_variant	90952				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction		g.chr11:124626110T>C	AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.600A>G	11.37:g.124626110T>C		False	False		Somatic	0				ESAM_ENST00000442070.2_Intron	p.P200P	NM_138961.2	NP_620411.2	WXS	Illumina HiSeq	Phase_I	Q96AP7	ESAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)	4	729	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	200			Ig-like C2-type.		B4DVN8|Q96T50	Silent	SNP	ENST00000278927.5	37	c.600A>G	CCDS8453.1																																																																																				0.562	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	0	NM_138961		11:124626110
SLC5A1	6523	broad.mit.edu	37	22	32464533	32464533	+	Silent	SNP	C	C	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr22:32464533C>A	ENST00000266088.4	+	5	673	c.423C>A	c.(421-423)atC>atA	p.I141I	SLC5A1_ENST00000543737.1_Silent_p.I14I	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	141					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GCCAGCGGATCCAGGTCTACC	0.602																																						ENST00000266088.4		NA																	0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(421-423)atC>atA		solute carrier family 5 (sodium/glucose cotransporter), member 1							161.0	126.0	138.0					22																	32464533		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32464533C>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.423C>A	22.37:g.32464533C>A		False	False		Somatic	0				SLC5A1_ENST00000543737.1_Silent_p.I14I	p.I141I	NM_000343.3	NP_000334.1	WXS	Illumina HiSeq	Phase_I	P13866	SC5A1_HUMAN			5	673	+			141					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.423C>A	CCDS13902.1																																																																																				0.602	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	0	NM_000343		22:32464533
TAAR9	134860	broad.mit.edu	37	6	132859638	132859638	+	RNA	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr6:132859638G>C	ENST00000434551.1	+	0	210					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		CAAACTTTCTGATTGCGTCGC	0.512																																					Colon(10;433 445 15992 45047 47213)	ENST00000434551.1		NA																	0					NA								trace amine associated receptor 9 (gene/pseudogene)							167.0	162.0	164.0					6																	132859638		2168	4283	6451			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132859638G>C	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859638G>C		False	False		Somatic	0						NM_175057.3	NP_778227.3	WXS	Illumina HiSeq	Phase_I	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	210	+	Breast(56;0.112)		NA						RNA	SNP	ENST00000434551.1	37																																																																																						0.512	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	0	NM_175057		6:132859638
RSBN1	54665	broad.mit.edu	37	1	114340098	114340098	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:114340098G>C	ENST00000261441.5	-	2	1327	c.1264C>G	c.(1264-1266)Ctc>Gtc	p.L422V		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	422						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTCTGGGAGATAAGCAGCC	0.393																																						ENST00000261441.5		NA																	0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(1264-1266)Ctc>Gtc		round spermatid basic protein 1							51.0	53.0	52.0					1																	114340098		2203	4300	6503	SO:0001583	missense	54665					nucleus		g.chr1:114340098G>C	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1264C>G	1.37:g.114340098G>C	ENSP00000261441:p.Leu422Val	False	False		Somatic	0					p.L422V	NM_018364.3	NP_060834.2	WXS	Illumina HiSeq	Phase_I	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	1327	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	422					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	ENST00000261441.5	37	c.1264C>G	CCDS862.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586901	0.46110	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	M	0.81802	2.56	0.58432	D	0.999999	D	0.67145	0.996	D	0.75484	0.986	T	0.77490	-0.2568	9	0.87932	D	0	-8.013	10.3789	0.44099	0.1484:0.0:0.8516:0.0	.	422	Q5VWQ0	RSBN1_HUMAN	V	422	.	ENSP00000261441:L422V	L	-	1	0	RSBN1	114141621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.716000	0.61916	2.824000	0.97209	0.655000	0.94253	CTC		0.393	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	0	NM_018364		1:114340098
RIN2	54453	broad.mit.edu	37	20	19981313	19981313	+	Silent	SNP	C	C	G			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr20:19981313C>G	ENST00000255006.6	+	12	2717	c.2568C>G	c.(2566-2568)ctC>ctG	p.L856L	RIN2_ENST00000440354.2_Silent_p.L374L|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	807	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GAAAGACCCTCCTTGTGAGAC	0.498																																						ENST00000255006.6		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(2566-2568)ctC>ctG		Ras and Rab interactor 2							153.0	150.0	151.0					20																	19981313		2037	4204	6241	SO:0001819	synonymous_variant	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19981313C>G	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2568C>G	20.37:g.19981313C>G		False	False		Somatic	0				RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Silent_p.L374L	p.L856L	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	WXS	Illumina HiSeq	Phase_I	Q8WYP3	RIN2_HUMAN			12	2717	+			807			Ras-associating.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	c.2568C>G	CCDS56182.1																																																																																				0.498	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1	0			20:19981313
RNPEP	6051	broad.mit.edu	37	1	201966564	201966564	+	Silent	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr1:201966564C>T	ENST00000295640.4	+	5	1015	c.972C>T	c.(970-972)atC>atT	p.I324I	RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RNPEP_ENST00000367286.3_Silent_p.I285I|RP11-465N4.5_ENST00000608886.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	324					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		ATGTCATCATCCATGAGATCT	0.547																																					GBM(19;39 479 7473 13131 19462)	ENST00000295640.4		NA																	0				breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(970-972)atC>atT		arginyl aminopeptidase (aminopeptidase B)							124.0	110.0	115.0					1																	201966564		2203	4300	6503	SO:0001819	synonymous_variant	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201966564C>T	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.972C>T	1.37:g.201966564C>T		False	False		Somatic	0				RNPEP_ENST00000367286.3_Silent_p.I285I|RNPEP_ENST00000471105.1_3'UTR	p.I324I	NM_020216.3	NP_064601.3	WXS	Illumina HiSeq	Phase_I	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	5	1015	+			324					Q9BVM9|Q9H1D4|Q9NPT7	Silent	SNP	ENST00000295640.4	37	c.972C>T	CCDS1418.1																																																																																				0.547	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	0	NM_020216		1:201966564
GLCE	26035	broad.mit.edu	37	15	69553486	69553486	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr15:69553486A>C	ENST00000261858.2	+	4	875	c.647A>C	c.(646-648)cAg>cCg	p.Q216P	GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Missense_Mutation_p.Q152P	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	216					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGATTGCACAGTATGGATTA	0.373																																						ENST00000261858.2		NA																	0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(646-648)cAg>cCg		glucuronic acid epimerase							114.0	105.0	108.0					15																	69553486		2200	4298	6498	SO:0001583	missense	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69553486A>C	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.647A>C	15.37:g.69553486A>C	ENSP00000261858:p.Gln216Pro	False	False		Somatic	0				GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Missense_Mutation_p.Q152P	p.Q216P	NM_015554.1	NP_056369.1	WXS	Illumina HiSeq	Phase_I	O94923	GLCE_HUMAN			4	875	+			216					Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	c.647A>C	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.278449	0.80692	.	.	ENSG00000138604	ENST00000261858	T	0.59502	0.26	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.81942	2.565	0.80722	D	1	D	0.61697	0.99	D	0.70487	0.969	T	0.80238	-0.1465	10	0.87932	D	0	-8.1086	15.2185	0.73288	1.0:0.0:0.0:0.0	.	216	O94923	GLCE_HUMAN	P	216	ENSP00000261858:Q216P	ENSP00000261858:Q216P	Q	+	2	0	GLCE	67340540	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.198000	0.94994	2.265000	0.75225	0.482000	0.46254	CAG		0.373	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_015554		15:69553486
ST3GAL2	6483	broad.mit.edu	37	16	70415640	70415640	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr16:70415640G>C	ENST00000393640.4	-	6	3112	c.1005C>G	c.(1003-1005)atC>atG	p.I335M	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.I335M			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	335					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CCAGCATGTCGATGATGTGGG	0.667																																						ENST00000393640.4		NA																	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11						c.(1003-1005)atC>atG		ST3 beta-galactoside alpha-2,3-sialyltransferase 2							64.0	55.0	58.0					16																	70415640		2198	4300	6498	SO:0001583	missense	6483				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr16:70415640G>C	U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"""Sialyltransferases"""	10863	protein-coding gene	gene with protein product		607188	"""sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.1005C>G	16.37:g.70415640G>C	ENSP00000377257:p.Ile335Met	False	False		Somatic	0				ST3GAL2_ENST00000342907.2_Missense_Mutation_p.I335M|RP11-529K1.4_ENST00000566960.1_RNA	p.I335M			WXS	Illumina HiSeq	Phase_I	Q16842	SIA4B_HUMAN			6	3112	-		Ovarian(137;0.0694)	335					O00654	Missense_Mutation	SNP	ENST00000393640.4	37	c.1005C>G	CCDS10890.1	.	.	.	.	.	.	.	.	.	.	g	22.1	4.248254	0.80024	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.32515	1.45;1.45	6.07	-2.78	0.05859	.	0.042535	0.85682	D	0.000000	T	0.42131	0.1189	M	0.76727	2.345	0.49798	D	0.999827	D	0.63880	0.993	P	0.59487	0.858	T	0.41716	-0.9493	10	0.66056	D	0.02	-32.3009	7.3993	0.26954	0.4899:0.0:0.4023:0.1078	.	335	Q16842	SIA4B_HUMAN	M	335	ENSP00000345477:I335M;ENSP00000377257:I335M	ENSP00000345477:I335M	I	-	3	3	ST3GAL2	68973141	0.170000	0.23016	0.988000	0.46212	0.670000	0.39368	-0.349000	0.07731	-0.283000	0.09115	-0.224000	0.12420	ATC		0.667	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	0	NM_006927		16:70415640
MRPS2	51116	broad.mit.edu	37	9	138393703	138393703	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr9:138393703G>C	ENST00000371785.1	+	4	392	c.183G>C	c.(181-183)aaG>aaC	p.K61N	C9orf116_ENST00000371789.3_5'Flank|C9orf116_ENST00000371791.1_5'Flank|C9orf116_ENST00000429260.2_5'Flank|MRPS2_ENST00000241600.5_Missense_Mutation_p.K61N|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	61					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TCAACGACAAGATTTTGAATG	0.572																																						ENST00000371785.1		NA																	0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(181-183)aaG>aaC		mitochondrial ribosomal protein S2							109.0	100.0	103.0					9																	138393703		2203	4300	6503	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138393703G>C	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.183G>C	9.37:g.138393703G>C	ENSP00000360850:p.Lys61Asn	False	False		Somatic	0				MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.K61N	p.K61N			WXS	Illumina HiSeq	Phase_I	Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	4	392	+			61					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.183G>C	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266862	0.40095	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.35236	1.81;1.81;1.32	4.7	0.553	0.17235	.	0.218719	0.45361	D	0.000376	T	0.26011	0.0634	L	0.57536	1.79	0.09310	N	1	P	0.44429	0.835	B	0.38378	0.272	T	0.18429	-1.0337	10	0.49607	T	0.09	-5.9199	2.9054	0.05719	0.2189:0.1206:0.5366:0.1239	.	61	Q9Y399	RT02_HUMAN	N	61;61;75	ENSP00000360850:K61N;ENSP00000241600:K61N;ENSP00000400082:K75N	ENSP00000241600:K61N	K	+	3	2	MRPS2	137533524	0.901000	0.30685	0.000000	0.03702	0.160000	0.22226	1.674000	0.37544	-0.203000	0.10251	0.655000	0.94253	AAG		0.572	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1	0			9:138393703
SH3GL1	6455	broad.mit.edu	37	19	4364084	4364084	+	Splice_Site	SNP	C	C	T			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr19:4364084C>T	ENST00000269886.3	-	5	644		c.e5+1		SH3GL1_ENST00000598564.1_Splice_Site|SH3GL1_ENST00000417295.2_Splice_Site|AC007292.6_ENST00000594444.1_RNA	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1						central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AGGAGCAGCACCTGGATCTCC	0.647			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	ENST00000269886.3		NA		Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26						c.e5+1		SH3-domain GRB2-like 1							35.0	31.0	32.0					19																	4364084		2203	4300	6503	SO:0001630	splice_region_variant	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4364084C>T		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.465+1G>A	19.37:g.4364084C>T		False	False		Somatic	0				SH3GL1_ENST00000598564.1_Splice_Site|SH3GL1_ENST00000417295.2_Splice_Site|AC007292.6_ENST00000594444.1_RNA		NM_003025.3	NP_003016.1	WXS	Illumina HiSeq	Phase_I	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	5	644	-			NA					B4DRA1|E7EVZ4|M0QZV5|Q99668	Splice_Site	SNP	ENST00000269886.3	37		CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.212855	0.79352	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2215	0.86958	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SH3GL1	4315084	1.000000	0.71417	0.994000	0.49952	0.761000	0.43186	7.773000	0.85462	2.315000	0.78130	0.561000	0.74099	.		0.647	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	0	NM_003025	Intron	19:4364084
CD163L1	283316	broad.mit.edu	37	12	7531847	7531847	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7919-01A-11D-2154-08	TCGA-HZ-7919-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	079bd60d-6112-4dc3-a9f8-d81ae2525b56	38e63aa2-a48f-464b-b927-ab6524cb5cc1	g.chr12:7531847C>A	ENST00000313599.3	-	9	2155	c.2098G>T	c.(2098-2100)Gct>Tct	p.A700S	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.A710S|CD163L1_ENST00000396630.1_Missense_Mutation_p.A700S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	700	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACTTTTCCAGCACACCTGCTG	0.463																																						ENST00000313599.3		NA																	0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2098-2100)Gct>Tct		CD163 molecule-like 1							102.0	79.0	87.0					12																	7531847		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531847C>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2098G>T	12.37:g.7531847C>A	ENSP00000315945:p.Ala700Ser	False	False		Somatic	0				CD163L1_ENST00000396630.1_Missense_Mutation_p.A700S|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.A710S	p.A700S			WXS	Illumina HiSeq	Phase_I	Q9NR16	C163B_HUMAN			9	2155	-			700			SRCR 7.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2098G>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100219	0.56183	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.34667	1.35;1.35;1.35	2.79	1.87	0.25490	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.483859	0.14903	U	0.291704	T	0.29976	0.0750	N	0.17922	0.545	0.23331	N	0.997896	P;D	0.55605	0.926;0.972	P;P	0.57152	0.73;0.814	T	0.11891	-1.0569	10	0.10636	T	0.68	.	6.9468	0.24522	0.0:0.8482:0.0:0.1518	.	710;700	E7EVK4;Q9NR16	.;C163B_HUMAN	S	700;710;700	ENSP00000315945:A700S;ENSP00000393474:A710S;ENSP00000379871:A700S	ENSP00000315945:A700S	A	-	1	0	CD163L1	7423114	0.103000	0.21917	0.599000	0.28851	0.548000	0.35241	-0.006000	0.12833	1.492000	0.48499	0.455000	0.32223	GCT		0.463	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	0	NM_174941		12:7531847
